#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRDM16	63976	broad.mit.edu	37	1	3342265	3342265	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:3342265G>A	ENST00000270722.5	+	13	3109	c.3060G>A	c.(3058-3060)caG>caA	p.Q1020Q	PRDM16_ENST00000378398.3_Silent_p.Q1020Q|PRDM16_ENST00000378391.2_Silent_p.Q1020Q|PRDM16_ENST00000442529.2_Silent_p.Q1019Q|PRDM16_ENST00000511072.1_Silent_p.Q1021Q|PRDM16_ENST00000514189.1_Silent_p.Q1020Q|PRDM16_ENST00000441472.2_Silent_p.Q1019Q|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1020	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				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)		TCGGGCAGCAGACCAACCTGG	0.647			T	EVI1	"""MDS, AML"""																																	uc001akf.2		NA		Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		0				lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(3058-3060)CAG>CAA		PR domain containing 16 isoform 1							77.0	88.0	84.0					1																	3342265		2129	4240	6369	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|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|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.chr1:3342265G>A	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.3060G>A	1.37:g.3342265G>A						PRDM16_uc001akc.2_Silent_p.Q1019Q|PRDM16_uc001akd.2_Silent_p.Q1019Q|PRDM16_uc001ake.2_Silent_p.Q1020Q|PRDM16_uc009vlh.2_Silent_p.Q720Q	p.Q1020Q	NM_022114	NP_071397	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)	13	3140	+	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)	1020			Mediates interaction with SKI and regulation of TGF-beta signaling.|C2H2-type 10.|Interaction with CTBP1 and CTBP2 (By similarity).		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	c.3060G>A	CCDS41236.2																																																																																				0.647	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		24	104	0	0	0	0	24	104				
PLEKHM2	23207	broad.mit.edu	37	1	16046258	16046258	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:16046258C>T	ENST00000375799.3	+	6	722	c.495C>T	c.(493-495)taC>taT	p.Y165Y	PLEKHM2_ENST00000375793.2_Silent_p.Y165Y|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	165	Interaction with KIF5B.				Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TGGCCCCCTACATGCCCGACT	0.587																																						uc010obo.1		NA																	0				ovary(1)	1						c.(493-495)TAC>TAT		pleckstrin homology domain containing, family M							100.0	99.0	99.0					1																	16046258		1973	4143	6116	SO:0001819	synonymous_variant	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16046258C>T	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.495C>T	1.37:g.16046258C>T							p.Y165Y	NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	6	722	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	165			Interaction with KIF5B.		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	ENST00000375799.3	37	c.495C>T	CCDS44063.1																																																																																				0.587	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		14	83	0	0	0	0	14	83				
UBR4	23352	broad.mit.edu	37	1	19487411	19487411	+	Splice_Site	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:19487411C>T	ENST00000375254.3	-	38	5433	c.5406G>A	c.(5404-5406)caG>caA	p.Q1802Q	UBR4_ENST00000375217.2_Splice_Site_p.Q1802Q|UBR4_ENST00000375226.2_Splice_Site_p.Q1802Q|UBR4_ENST00000375267.2_Splice_Site_p.Q1802Q	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1802					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCAGCCCCACCTGGTTCTGTA	0.512																																						uc001bbi.2		NA																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(5404-5406)CAG>CAA		retinoblastoma-associated factor 600							44.0	43.0	43.0					1																	19487411		2203	4300	6503	SO:0001630	splice_region_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19487411C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5406+1G>A	1.37:g.19487411C>T						UBR4_uc001bbm.1_Silent_p.Q1013Q	p.Q1802Q	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	38	5410	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1802					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.5406G>A	CCDS189.1																																																																																				0.512	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	Silent	12	36	0	0	0	0	12	36				
ALPL	249	broad.mit.edu	37	1	21903944	21903944	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:21903944G>T	ENST00000374840.3	+	12	1628	c.1378G>T	c.(1378-1380)Gcc>Tcc	p.A460S	ALPL_ENST00000374830.1_Missense_Mutation_p.A106S|ALPL_ENST00000539907.1_Missense_Mutation_p.A383S|ALPL_ENST00000374832.1_Missense_Mutation_p.A460S|ALPL_ENST00000374829.1_Missense_Mutation_p.A106S|ALPL_ENST00000425315.2_Missense_Mutation_p.A460S|ALPL_ENST00000540617.1_Missense_Mutation_p.A405S	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	460					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	GGAGGACGTGGCCGTCTTCTC	0.667																																						uc001bet.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1378-1380)GCC>TCC		tissue-nonspecific alkaline phosphatase	Amifostine(DB01143)						41.0	40.0	40.0					1																	21903944		2199	4293	6492	SO:0001583	missense	249				response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr1:21903944G>T	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.1378G>T	1.37:g.21903944G>T	ENSP00000363973:p.Ala460Ser					ALPL_uc010odn.1_Missense_Mutation_p.A408S|ALPL_uc010odo.1_Missense_Mutation_p.A405S|ALPL_uc010odp.1_Missense_Mutation_p.A383S|ALPL_uc001beu.3_Missense_Mutation_p.A460S	p.A460S	NM_000478	NP_000469	P05186	PPBT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	12	1635	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	460					A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	37	c.1378G>T	CCDS217.1	.	.	.	.	.	.	.	.	.	.	g	19.35	3.810413	0.70797	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315;ENST00000374830;ENST00000374829	D;D;D;D;D;D;D	0.96011	-3.88;-3.88;-3.88;-3.88;-3.88;-3.88;-3.88	4.91	2.98	0.34508	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.96436	0.8837	M	0.73319	2.225	0.52501	D	0.999952	B;D;D	0.61697	0.194;0.99;0.98	B;D;D	0.70935	0.427;0.971;0.917	D	0.94761	0.7936	10	0.48119	T	0.1	-2.0153	8.0021	0.30304	0.0894:0.1617:0.7489:0.0	.	383;408;460	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	S	383;405;460;460;460;106;106	ENSP00000437674:A383S;ENSP00000442672:A405S;ENSP00000363973:A460S;ENSP00000363965:A460S;ENSP00000394765:A460S;ENSP00000363963:A106S;ENSP00000363962:A106S	ENSP00000363962:A106S	A	+	1	0	ALPL	21776531	1.000000	0.71417	0.176000	0.23000	0.753000	0.42808	9.153000	0.94687	0.632000	0.30432	0.556000	0.70494	GCC		0.667	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		7	66	1	0	2.77e-08	2.99e-08	7	66				
NRD1	4898	broad.mit.edu	37	1	52280475	52280475	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:52280475G>C	ENST00000354831.7	-	14	1843	c.1654C>G	c.(1654-1656)Ctt>Gtt	p.L552V	NRD1_ENST00000544028.1_Missense_Mutation_p.L352V|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Missense_Mutation_p.L420V|NRD1_ENST00000352171.7_Missense_Mutation_p.L484V	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	483					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AACAGTGCAAGAGCCCAGCAT	0.378																																						uc001ctc.3		NA																	0					0						c.(1654-1656)CTT>GTT		nardilysin isoform a							51.0	47.0	48.0					1																	52280475		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52280475G>C	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1654C>G	1.37:g.52280475G>C	ENSP00000346890:p.Leu552Val					NRD1_uc009vzb.2_Missense_Mutation_p.L247V|NRD1_uc001ctd.3_Missense_Mutation_p.L484V|NRD1_uc001cte.2_Missense_Mutation_p.L420V|NRD1_uc001ctf.2_Missense_Mutation_p.L484V|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Missense_Mutation_p.L352V	p.L552V	NM_002525	NP_002516	O43847	NRDC_HUMAN			14	1976	-			483					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.1654C>G	CCDS559.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533051	0.45073	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.07567	3.18;3.18;3.18;3.18	5.89	5.89	0.94794	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.061971	0.64402	D	0.000003	T	0.07818	0.0196	N	0.26042	0.785	0.53688	D	0.999971	B;P;P	0.43857	0.374;0.674;0.819	B;B;B	0.39771	0.102;0.24;0.309	T	0.37502	-0.9703	10	0.30854	T	0.27	-11.9351	15.7068	0.77588	0.0:0.136:0.864:0.0	.	484;483;552	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	V	484;552;420;484;352	ENSP00000262679:L484V;ENSP00000346890:L552V;ENSP00000444416:L420V;ENSP00000442262:L352V	ENSP00000262679:L484V	L	-	1	0	NRD1	52053063	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.742000	0.55097	2.783000	0.95769	0.655000	0.94253	CTT		0.378	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		11	54	0	0	0	0	11	54				
C1orf168	199920	broad.mit.edu	37	1	57254662	57254662	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:57254662G>A	ENST00000343433.6	-	3	983	c.903C>T	c.(901-903)ccC>ccT	p.P301P	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	301										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCTGAGTCTTGGGAACAGCAG	0.602																																						uc001cym.3		NA																	0				ovary(3)|skin(2)	5						c.(901-903)CCC>CCT		hypothetical protein LOC199920							144.0	129.0	134.0					1																	57254662		2203	4300	6503	SO:0001819	synonymous_variant	199920							g.chr1:57254662G>A	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.903C>T	1.37:g.57254662G>A						C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Silent_p.P301P	p.P301P	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN			3	1309	-			301					Q63HM3|Q6ZUY6	Silent	SNP	ENST00000343433.6	37	c.903C>T	CCDS30729.1																																																																																				0.602	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		38	158	0	0	0	0	38	158				
WLS	79971	broad.mit.edu	37	1	68659750	68659750	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:68659750G>A	ENST00000262348.4	-	2	520	c.267C>T	c.(265-267)gaC>gaT	p.D89D	WLS_ENST00000540432.1_Silent_p.D89D|WLS_ENST00000370971.1_Silent_p.D89D|WLS_ENST00000370976.3_Intron|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000354777.2_Silent_p.D87D	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	89					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						AAAACACGATGTCATTGGCTT	0.463																																						uc001def.1		NA																	0					0						c.(265-267)GAC>GAT		G protein-coupled receptor 177 isoform 1							216.0	171.0	186.0					1																	68659750		2203	4300	6503	SO:0001819	synonymous_variant	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68659750G>A	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.267C>T	1.37:g.68659750G>A						uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Silent_p.D87D|WLS_uc001deg.1_Intron|WLS_uc001deh.1_Silent_p.D89D|WLS_uc009wbf.1_Silent_p.D44D	p.D89D	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN			2	538	-			89			Lumenal (Potential).		B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Silent	SNP	ENST00000262348.4	37	c.267C>T	CCDS642.1																																																																																				0.463	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		18	86	0	0	0	0	18	86				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000342960.5_Silent_p.L384L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						uc001end.3		NA																	6	Substitution - coding silent(6)		prostate(2)|kidney(2)|central_nervous_system(2)		0						c.(1150-1152)TTA>TTG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L	p.L384L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		7	236	0	0	0	0	7	236				
MTMR11	10903	broad.mit.edu	37	1	149905309	149905309	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:149905309G>A	ENST00000439741.2	-	10	1225	c.975C>T	c.(973-975)ctC>ctT	p.L325L	MTMR11_ENST00000406732.3_Silent_p.L297L|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Silent_p.L253L	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	325	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CAGGCAGGCAGAGGGCCCTCA	0.557																																						uc001etl.3		NA																	0				central_nervous_system(1)	1						c.(973-975)CTC>CTT		myotubularin related protein 11 isoform a							115.0	113.0	114.0					1																	149905309		2203	4300	6503	SO:0001819	synonymous_variant	10903						phosphatase activity	g.chr1:149905309G>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.975C>T	1.37:g.149905309G>A						MTMR11_uc001etm.1_Silent_p.L253L|MTMR11_uc010pbm.1_Silent_p.L297L|MTMR11_uc010pbn.1_Silent_p.L167L	p.L325L	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		10	1226	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		325			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Silent	SNP	ENST00000439741.2	37	c.975C>T	CCDS53360.1																																																																																				0.557	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		57	188	0	0	0	0	57	188				
ARNT	405	broad.mit.edu	37	1	150808789	150808789	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:150808789C>T	ENST00000358595.5	-	7	867	c.667G>A	c.(667-669)Gag>Aag	p.E223K	ARNT_ENST00000515192.1_Missense_Mutation_p.E214K|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000354396.2_Missense_Mutation_p.E223K|ARNT_ENST00000505755.1_Missense_Mutation_p.E208K	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	223	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAAAGCTGCTCACGAAGTTTA	0.448			T	ETV6	AML																																	uc001evr.1		NA		Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				skin(4)|lung(3)|central_nervous_system(1)|kidney(1)	9						c.(667-669)GAG>AAG		aryl hydrocarbon receptor nuclear translocator							116.0	91.0	100.0					1																	150808789		2203	4300	6503	SO:0001583	missense	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150808789C>T	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.667G>A	1.37:g.150808789C>T	ENSP00000351407:p.Glu223Lys					ARNT_uc001evs.1_Missense_Mutation_p.E208K|ARNT_uc009wmb.1_Missense_Mutation_p.E214K|ARNT_uc009wmc.1_Missense_Mutation_p.E223K|ARNT_uc009wmd.1_Missense_Mutation_p.E208K|ARNT_uc009wme.1_Missense_Mutation_p.E223K|ARNT_uc010pcl.1_Missense_Mutation_p.E207K	p.E223K	NM_001668	NP_001659	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	810	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		223			PAS 1.		B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.667G>A	CCDS970.1	.	.	.	.	.	.	.	.	.	.	C	36	5.810302	0.96975	.	.	ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.52	5.52	0.82312	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	M	0.73753	2.245	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.964;1.0;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.998;0.998;0.999;0.913;0.996;0.996;0.998	T	0.14035	-1.0487	10	0.62326	D	0.03	.	19.8024	0.96513	0.0:1.0:0.0:0.0	.	207;223;208;223;214;208;223	B4E3L5;A6NGV6;A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;.;.;ARNT_HUMAN	K	223;223;223;214;207;208	ENSP00000351407:E223K;ENSP00000346372:E223K;ENSP00000423851:E214K;ENSP00000427571:E208K	ENSP00000346372:E223K	E	-	1	0	ARNT	149075413	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.752000	0.94435	0.655000	0.94253	GAG		0.448	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			28	84	0	0	0	0	28	84				
MRPL9	65005	broad.mit.edu	37	1	151732598	151732598	+	Missense_Mutation	SNP	C	C	A	rs200843412		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:151732598C>A	ENST00000368830.3	-	7	816	c.732G>T	c.(730-732)aaG>aaT	p.K244N	MRPL9_ENST00000467306.1_5'UTR|MRPL9_ENST00000368829.3_Missense_Mutation_p.K210N|OAZ3_ENST00000315067.8_5'Flank|OAZ3_ENST00000321531.5_5'Flank|RP11-98D18.15_ENST00000601684.1_RNA	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	244					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATCTTTTGGTCTTGGGCTTCT	0.493																																						uc001eyv.2		NA																	0				ovary(1)	1						c.(730-732)AAG>AAT		mitochondrial ribosomal protein L9 precursor							88.0	86.0	87.0					1																	151732598		2203	4300	6503	SO:0001583	missense	65005				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:151732598C>A	AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"""Mitochondrial ribosomal proteins / large subunits"""	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.732G>T	1.37:g.151732598C>A	ENSP00000357823:p.Lys244Asn					MRPL9_uc009wmz.2_RNA	p.K244N	NM_031420	NP_113608	Q9BYD2	RM09_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	817	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		244					B2RD99|Q5SZR2|Q9BSW8	Missense_Mutation	SNP	ENST00000368830.3	37	c.732G>T	CCDS1003.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.15	3.316259	0.60524	.	.	ENSG00000143436	ENST00000368830;ENST00000368829	T;T	0.35421	1.36;1.31	5.16	4.25	0.50352	.	0.485919	0.21142	N	0.079461	T	0.24392	0.0591	L	0.55481	1.735	0.33012	D	0.527599	D	0.54207	0.965	P	0.47603	0.551	T	0.11012	-1.0605	10	0.51188	T	0.08	-13.5699	9.5217	0.39140	0.0:0.9053:0.0:0.0947	.	244	Q9BYD2	RM09_HUMAN	N	244;210	ENSP00000357823:K244N;ENSP00000357822:K210N	ENSP00000357822:K210N	K	-	3	2	MRPL9	149999222	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	1.744000	0.38268	1.403000	0.46800	0.650000	0.86243	AAG		0.493	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036653.2	NM_031420		25	70	1	0	1.64e-13	1.82e-13	25	70				
ATP8B2	57198	broad.mit.edu	37	1	154309988	154309988	+	Silent	SNP	C	C	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:154309988C>A	ENST00000368489.3	+	12	1101	c.1101C>A	c.(1099-1101)ctC>ctA	p.L367L	ATP8B2_ENST00000341822.2_Silent_p.L353L|RNU7-57P_ENST00000459540.1_RNA|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Silent_p.L334L	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	353					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCATCATCCTCAACACCGTTG	0.532																																						uc001fey.1		NA																	0				ovary(1)|skin(1)	2						c.(1057-1059)CTC>CTA		ATPase, class I, type 8B, member 2 isoform b							414.0	339.0	364.0					1																	154309988		2203	4300	6503	SO:0001819	synonymous_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154309988C>A	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1101C>A	1.37:g.154309988C>A						ATP8B2_uc001few.2_Silent_p.L334L|ATP8B2_uc001fex.2_Silent_p.L367L	p.L353L	NM_001005855	NP_001005855	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		11	1248	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		353			Helical; (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	ENST00000368489.3	37	c.1059C>A	CCDS1066.1																																																																																				0.532	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		117	403	1	0	1.39e-60	1.57e-60	117	403				
PBXIP1	57326	broad.mit.edu	37	1	154926182	154926182	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:154926182C>T	ENST00000368463.3	-	2	87	c.16G>A	c.(16-18)Gac>Aac	p.D6N	PBXIP1_ENST00000539880.1_Missense_Mutation_p.D6N|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000368460.3_Missense_Mutation_p.D6N|PBXIP1_ENST00000368465.1_Intron|PBXIP1_ENST00000542459.1_Intron	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	6					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTATCAGAGTCTGGGCAGGAG	0.607																																						uc001ffr.2		NA																	0				large_intestine(1)	1						c.(16-18)GAC>AAC		pre-B-cell leukemia homeobox interacting protein							49.0	46.0	47.0					1																	154926182		2203	4300	6503	SO:0001583	missense	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154926182C>T	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.16G>A	1.37:g.154926182C>T	ENSP00000357448:p.Asp6Asn					PBXIP1_uc001ffs.2_Intron|PBXIP1_uc010pep.1_Intron|PBXIP1_uc009woy.1_RNA	p.D6N	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		2	75	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		6					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	c.16G>A	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	c	17.61	3.431221	0.62844	.	.	ENSG00000163346	ENST00000368463;ENST00000351146;ENST00000539880;ENST00000368460	T;T	0.27256	2.41;1.68	4.52	4.52	0.55395	.	0.560598	0.17414	N	0.175094	T	0.22898	0.0553	L	0.51422	1.61	0.80722	D	1	P	0.44139	0.827	P	0.49192	0.602	T	0.01393	-1.1366	10	0.56958	D	0.05	-18.6655	12.6126	0.56560	0.0:1.0:0.0:0.0	.	6	Q96AQ6	PBIP1_HUMAN	N	6	ENSP00000357448:D6N;ENSP00000440142:D6N	ENSP00000295523:D6N	D	-	1	0	PBXIP1	153192806	1.000000	0.71417	0.969000	0.41365	0.898000	0.52572	2.507000	0.45442	2.353000	0.79882	0.306000	0.20318	GAC		0.607	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		10	24	0	0	0	0	10	24				
USH2A	7399	broad.mit.edu	37	1	216369938	216369938	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:216369938G>A	ENST00000307340.3	-	19	4594	c.4208C>T	c.(4207-4209)tCt>tTt	p.S1403F	USH2A_ENST00000366943.2_Missense_Mutation_p.S1403F|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.S1403F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1403	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGATTGTTCAGAAAGCATATT	0.408										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(4207-4209)TCT>TTT		usherin isoform B							196.0	178.0	184.0					1																	216369938		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216369938G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4208C>T	1.37:g.216369938G>A	ENSP00000305941:p.Ser1403Phe	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.S1403F	p.S1403F	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	19	4595	-			1403			Extracellular (Potential).|Fibronectin type-III 4.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4208C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557964	0.65538	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.58652	0.32;0.32;0.32	5.7	5.7	0.88788	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.170836	0.28119	N	0.016528	T	0.75722	0.3888	M	0.72479	2.2	0.32345	N	0.559276	D;D	0.76494	0.985;0.999	P;D	0.72338	0.807;0.977	T	0.79904	-0.1606	10	0.59425	D	0.04	.	18.0216	0.89257	0.0:0.0:1.0:0.0	.	1403;1403	O75445-2;O75445	.;USH2A_HUMAN	F	1403	ENSP00000305941:S1403F;ENSP00000355910:S1403F;ENSP00000355909:S1403F	ENSP00000305941:S1403F	S	-	2	0	USH2A	214436561	1.000000	0.71417	0.568000	0.28447	0.651000	0.38670	4.021000	0.57196	2.683000	0.91414	0.655000	0.94253	TCT		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		39	129	0	0	0	0	39	129				
CHML	1122	broad.mit.edu	37	1	241798757	241798757	+	Silent	SNP	G	G	A	rs113330678	byFrequency	TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:241798757G>A	ENST00000366553.1	-	1	475	c.312C>T	c.(310-312)taC>taT	p.Y104Y	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	104					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.Y104Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCTGACTGGCGTAGCAAAAAG	0.438													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20719	0.0		0.0	False		,,,				2504	0.0					uc001hzd.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(4)|skin(2)	6						c.(310-312)TAC>TAT		choroideremia-like Rab escort protein 2		G	,	1,4405	2.1+/-5.4	0,1,2202	189.0	191.0	191.0		312,	-2.3	1.0	1	dbSNP_132	191	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,intron	CHML,OPN3	NM_001821.3,NM_014322.2	,	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	,	104/657,	241798757	2,13000	2203	4298	6501	SO:0001819	synonymous_variant	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241798757G>A	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.312C>T	1.37:g.241798757G>A						OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	p.Y104Y	NM_001821	NP_001812	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	476	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	104					B2RAB9|Q17RE0|Q9H1Y4	Silent	SNP	ENST00000366553.1	37	c.312C>T	CCDS31073.1																																																																																				0.438	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		116	342	0	0	0	0	116	342				
OR2W3	343171	broad.mit.edu	37	1	248059077	248059077	+	Silent	SNP	C	C	T	rs201464457		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:248059077C>T	ENST00000360358.3	+	1	189	c.189C>T	c.(187-189)ctC>ctT	p.L63L	OR2W3_ENST00000537741.1_Silent_p.L63L	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L63L(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACTTCTTCCTCGCCCACCTTT	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18624	0.0		0.0	False		,,,				2504	0.0					uc001idp.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(187-189)CTC>CTT		olfactory receptor, family 2, subfamily W,		C		0,4406		0,0,2203	212.0	171.0	185.0		189	2.4	1.0	1		185	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR2W3	NM_001001957.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		63/315	248059077	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059077C>T	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.189C>T	1.37:g.248059077C>T						OR2W3_uc010pzb.1_Silent_p.L63L	p.L63L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	458	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		63			Helical; Name=2; (Potential).		Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	37	c.189C>T	CCDS31099.1																																																																																				0.572	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		49	261	0	0	0	0	49	261				
CAMK1D	57118	broad.mit.edu	37	10	12866500	12866500	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:12866500C>T	ENST00000378847.3	+	9	1207	c.870C>T	c.(868-870)caC>caT	p.H290H	CAMK1D_ENST00000378845.1_Silent_p.H290H	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	290	Autoinhibitory domain. {ECO:0000250}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		AAAACATCCACGAGTCCGTCA	0.517																																						uc001ilo.2		NA																	0				ovary(1)|stomach(1)	2						c.(868-870)CAC>CAT		calcium/calmodulin-dependent protein kinase ID							98.0	84.0	89.0					10																	12866500		2203	4300	6503	SO:0001819	synonymous_variant	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12866500C>T	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.870C>T	10.37:g.12866500C>T						CAMK1D_uc001iln.2_Silent_p.H290H	p.H290H	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	9	1105	+			290			Autoinhibitory domain (By similarity).		B0YIY0|Q9HD31	Silent	SNP	ENST00000378847.3	37	c.870C>T	CCDS7091.1																																																																																				0.517	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		7	42	0	0	0	0	7	42				
RHOBTB1	9886	broad.mit.edu	37	10	62670718	62670718	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:62670718C>T	ENST00000337910.5	-	4	560	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	RNU2-72P_ENST00000411175.1_RNA|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.E75K	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	75	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ACACTCACTTCATCAACAACA	0.488																																						uc001jli.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(223-225)GAA>AAA		Rho-related BTB domain containing 1							153.0	119.0	130.0					10																	62670718		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62670718C>T	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.223G>A	10.37:g.62670718C>T	ENSP00000338671:p.Glu75Lys					RHOBTB1_uc001jlh.2_Missense_Mutation_p.E75K|RHOBTB1_uc001jlj.2_Missense_Mutation_p.E75K|RHOBTB1_uc001jlk.2_Missense_Mutation_p.E75K|RHOBTB1_uc009xpe.1_Missense_Mutation_p.E75K|RHOBTB1_uc001jlm.2_Missense_Mutation_p.E75K	p.E75K	NM_014836	NP_055651	O94844	RHBT1_HUMAN			5	661	-	Prostate(12;0.0112)		75			Rho-like.			Missense_Mutation	SNP	ENST00000337910.5	37	c.223G>A	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	C	36	5.721448	0.96839	.	.	ENSG00000072422	ENST00000357917;ENST00000337910;ENST00000536302	T;T	0.21932	1.98;1.98	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	N	0.17764	0.52	0.80722	D	1	P	0.46578	0.88	P	0.54544	0.755	T	0.03619	-1.1019	10	0.72032	D	0.01	.	19.857	0.96762	0.0:1.0:0.0:0.0	.	75	O94844	RHBT1_HUMAN	K	75	ENSP00000350595:E75K;ENSP00000338671:E75K	ENSP00000338671:E75K	E	-	1	0	RHOBTB1	62340724	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.724000	0.84798	2.693000	0.91896	0.555000	0.69702	GAA		0.488	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			17	75	0	0	0	0	17	75				
CCAR1	55749	broad.mit.edu	37	10	70520875	70520875	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:70520875G>C	ENST00000265872.6	+	16	2151	c.2032G>C	c.(2032-2034)Gaa>Caa	p.E678Q	MIR1254-1_ENST00000408257.1_RNA|CCAR1_ENST00000543719.1_Missense_Mutation_p.E663Q|CCAR1_ENST00000535016.1_Missense_Mutation_p.E663Q	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	678	Glu-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ACAAAAAGAAGAACAGAAGGA	0.348																																						uc001joo.2		NA																	0				ovary(6)|large_intestine(1)	7						c.(2032-2034)GAA>CAA		cell-cycle and apoptosis regulatory protein 1							82.0	83.0	83.0					10																	70520875		2203	4300	6503	SO:0001583	missense	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70520875G>C	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2032G>C	10.37:g.70520875G>C	ENSP00000265872:p.Glu678Gln					CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.E483Q|CCAR1_uc009xpx.1_Missense_Mutation_p.E652Q|CCAR1_uc001jon.1_Missense_Mutation_p.E624Q|CCAR1_uc010qiz.1_Missense_Mutation_p.E663Q|CCAR1_uc010qja.1_Missense_Mutation_p.E663Q|CCAR1_uc010qjb.1_RNA	p.E678Q	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN			16	2151	+			678			Glu-rich.		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	c.2032G>C	CCDS7282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.062306|4.062306	0.76187|0.76187	.|.	.|.	ENSG00000060339|ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012|ENST00000543706	T;T;T;T;T;T|.	0.29655|.	1.56;1.7;1.7;1.74;1.78;1.77|.	5.62|5.62	5.62|5.62	0.85841|0.85841	DNA-binding SAP (1);|.	0.124363|.	0.52532|.	D|.	0.000069|.	T|T	0.72779|0.72779	0.3503|0.3503	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D;D;D|.	0.67145|.	0.989;0.993;0.996|.	D;D;D|.	0.78314|.	0.979;0.979;0.991|.	T|T	0.69206|0.69206	-0.5206|-0.5206	10|5	0.49607|.	T|.	0.09|.	-20.0184|-20.0184	19.2688|19.2688	0.94000|0.94000	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	663;678;652|.	Q8IX12-2;Q8IX12;F5H2E6|.	.;CCAR1_HUMAN;.|.	Q|T	678;663;663;663;652;483|47	ENSP00000265872:E678Q;ENSP00000441820:E663Q;ENSP00000445254:E663Q;ENSP00000439252:E663Q;ENSP00000438610:E652Q;ENSP00000439642:E483Q|.	ENSP00000265872:E678Q|.	E|R	+|+	1|2	0|0	CCAR1|CCAR1	70190881|70190881	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.218000|9.218000	0.95166|0.95166	2.646000|2.646000	0.89796|0.89796	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.348	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		33	99	0	0	0	0	33	99				
USP54	159195	broad.mit.edu	37	10	75331188	75331188	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:75331188G>A	ENST00000339859.4	-	3	331	c.231C>T	c.(229-231)tgC>tgT	p.C77C	USP54_ENST00000428547.1_Silent_p.C77C|USP54_ENST00000408019.1_Silent_p.C77C|USP54_ENST00000319786.7_Silent_p.C77C|USP54_ENST00000394811.2_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	77	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CCTTGAGAGCGCAAAAGATGC	0.433																																					Colon(195;880 2046 8854 25025 38456)	uc001juo.2		NA																	0				breast(3)|lung(2)|kidney(1)	6						c.(229-231)TGC>TGT		ubiquitin specific peptidase 54							120.0	108.0	112.0					10																	75331188		1901	4133	6034	SO:0001819	synonymous_variant	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75331188G>A	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.231C>T	10.37:g.75331188G>A						USP54_uc001jup.2_Silent_p.C77C|USP54_uc010qkl.1_Silent_p.C77C	p.C77C	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			2	248	-	Prostate(51;0.0112)		77					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	ENST00000339859.4	37	c.231C>T	CCDS7329.2																																																																																				0.433	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		4	134	0	0	0	0	4	134				
TM9SF3	56889	broad.mit.edu	37	10	98311125	98311125	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:98311125C>G	ENST00000371142.4	-	7	1052	c.836G>C	c.(835-837)gGa>gCa	p.G279A	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	279						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		AAATACATCTCCATGCACCTG	0.353																																						uc001kmm.3		NA																	0					0						c.(835-837)GGA>GCA		transmembrane 9 superfamily member 3 precursor							182.0	172.0	176.0					10																	98311125		2203	4300	6503	SO:0001583	missense	56889					integral to membrane	binding	g.chr10:98311125C>G	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.836G>C	10.37:g.98311125C>G	ENSP00000360184:p.Gly279Ala					TM9SF3_uc010qot.1_Missense_Mutation_p.G279A|TM9SF3_uc001kmn.1_Missense_Mutation_p.G48A	p.G279A	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	7	1053	-		Colorectal(252;0.158)	279					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	ENST00000371142.4	37	c.836G>C	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905865	0.92107	.	.	ENSG00000077147	ENST00000371142;ENST00000443638	T;T	0.52295	0.67;0.67	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.72391	0.3454	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	0.987;1.0	P;D	0.87578	0.826;0.998	T	0.76358	-0.2988	10	0.66056	D	0.02	-10.5	18.0329	0.89290	0.0:1.0:0.0:0.0	.	211;279	Q8WUB5;Q9HD45	.;TM9S3_HUMAN	A	279;235	ENSP00000360184:G279A;ENSP00000401152:G235A	ENSP00000360184:G279A	G	-	2	0	TM9SF3	98301115	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.594000	0.82698	2.518000	0.84900	0.650000	0.86243	GGA		0.353	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		34	157	0	0	0	0	34	157				
POLL	27343	broad.mit.edu	37	10	103344392	103344392	+	Silent	SNP	G	G	A	rs41540413		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:103344392G>A	ENST00000370162.3	-	5	1352	c.858C>T	c.(856-858)ctC>ctT	p.L286L	DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_Silent_p.L286L|POLL_ENST00000456836.2_Intron|POLL_ENST00000339310.3_Intron|POLL_ENST00000463515.1_5'Flank|POLL_ENST00000370168.3_5'Flank|POLL_ENST00000370172.1_Silent_p.L198L|POLL_ENST00000299206.4_Silent_p.L286L|POLL_ENST00000370158.3_Intron|POLL_ENST00000436284.2_Missense_Mutation_p.S144L	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	286					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGAAGCTCTTGAGGGCATTGA	0.562								DNA polymerases (catalytic subunits)																														uc001ktg.1		NA																	0					0						c.(856-858)CTC>CTT	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase lambda							66.0	56.0	59.0					10																	103344392		2203	4297	6500	SO:0001819	synonymous_variant	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103344392G>A	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.858C>T	10.37:g.103344392G>A						DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001kti.1_Silent_p.L286L|POLL_uc001ktj.1_Silent_p.L286L|POLL_uc001ktf.2_Intron|POLL_uc001ktk.1_Intron|POLL_uc010qqa.1_Intron|POLL_uc010qqb.1_Intron|POLL_uc001ktm.2_Silent_p.L286L|POLL_uc001ktl.2_Silent_p.L198L|POLL_uc010qqc.1_Intron|POLL_uc010qqd.1_Missense_Mutation_p.S144L	p.L286L	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	4	1624	-		Colorectal(252;0.234)	286					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Silent	SNP	ENST00000370162.3	37	c.858C>T	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309205	0.60414	.	.	ENSG00000166169	ENST00000370164;ENST00000436284;ENST00000454524	.	.	.	6.04	5.13	0.70059	.	.	.	.	.	T	0.49983	0.1589	.	.	.	0.26073	N	0.9812	P	0.51537	0.946	P	0.51742	0.678	T	0.42749	-0.9433	6	.	.	.	-3.3048	12.9333	0.58299	0.0:0.1244:0.7461:0.1295	.	144	B7Z1M4	.	L	144	.	.	S	-	2	0	POLL	103334382	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	0.944000	0.29043	1.553000	0.49476	0.561000	0.74099	TCA		0.562	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		42	107	0	0	0	0	42	107				
POLL	27343	broad.mit.edu	37	10	103344516	103344516	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:103344516G>C	ENST00000370162.3	-	5	1228	c.734C>G	c.(733-735)tCa>tGa	p.S245*	DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_Nonsense_Mutation_p.S245*|POLL_ENST00000456836.2_Intron|POLL_ENST00000339310.3_Intron|POLL_ENST00000463515.1_5'Flank|POLL_ENST00000370168.3_5'Flank|POLL_ENST00000370172.1_Nonsense_Mutation_p.S157*|POLL_ENST00000299206.4_Nonsense_Mutation_p.S245*|POLL_ENST00000370158.3_Intron|POLL_ENST00000436284.2_Missense_Mutation_p.Q103E	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	245					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CTTCTGGCTTGAGGGCTGTGC	0.582								DNA polymerases (catalytic subunits)																														uc001ktg.1		NA																	0					0						c.(733-735)TCA>TGA	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase lambda							64.0	60.0	61.0					10																	103344516		2203	4300	6503	SO:0001587	stop_gained	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103344516G>C	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.734C>G	10.37:g.103344516G>C	ENSP00000359181:p.Ser245*					DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001kti.1_Nonsense_Mutation_p.S245*|POLL_uc001ktj.1_Nonsense_Mutation_p.S245*|POLL_uc001ktf.2_Intron|POLL_uc001ktk.1_Intron|POLL_uc010qqa.1_Intron|POLL_uc010qqb.1_Intron|POLL_uc001ktm.2_Nonsense_Mutation_p.S245*|POLL_uc001ktl.2_Nonsense_Mutation_p.S157*|POLL_uc010qqc.1_Intron|POLL_uc010qqd.1_Missense_Mutation_p.Q103E	p.S245*	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	4	1500	-		Colorectal(252;0.234)	245					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Nonsense_Mutation	SNP	ENST00000370162.3	37	c.734C>G	CCDS7513.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	7.914724|7.914724	0.98560|0.98560	.|.	.|.	ENSG00000166169|ENSG00000166169	ENST00000370164;ENST00000436284;ENST00000454524|ENST00000299206;ENST00000370174;ENST00000370169;ENST00000370172;ENST00000370162;ENST00000370157;ENST00000426919;ENST00000413344	.|.	.|.	.|.	6.04|6.04	5.14|5.14	0.70334|0.70334	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.63663|.	0.2530|.	.|.	.|.	.|.	0.32870|0.32870	D|D	0.509152|0.509152	B|.	0.26708|.	0.157|.	B|.	0.21917|.	0.037|.	T|.	0.74636|.	-0.3599|.	7|.	0.02654|0.52906	T|T	1|0.07	-22.226|-22.226	15.5249|15.5249	0.75894|0.75894	0.0661:0.0:0.9339:0.0|0.0661:0.0:0.9339:0.0	.|.	103|.	B7Z1M4|.	.|.	E|X	103|245;245;245;157;245;245;256;245	.|.	ENSP00000359183:Q103E|ENSP00000299206:S245X	Q|S	-|-	1|2	0|0	POLL|POLL	103334506|103334506	1.000000|1.000000	0.71417|0.71417	0.849000|0.849000	0.33467|0.33467	0.986000|0.986000	0.74619|0.74619	9.464000|9.464000	0.97655|0.97655	1.568000|1.568000	0.49683|0.49683	0.561000|0.561000	0.74099|0.74099	CAA|TCA		0.582	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		26	66	0	0	0	0	26	66				
ACADSB	36	broad.mit.edu	37	10	124803982	124803982	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:124803982G>C	ENST00000358776.4	+	7	895	c.881G>C	c.(880-882)aGa>aCa	p.R294T	ACADSB_ENST00000368869.4_Missense_Mutation_p.R192T|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	294	Substrate binding.				branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	AATGAAGGTAGAATAGGAATT	0.358																																						uc001lhb.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(880-882)AGA>ACA		acyl-Coenzyme A dehydrogenase, short/branched	L-Isoleucine(DB00167)						112.0	105.0	107.0					10																	124803982		2203	4300	6503	SO:0001583	missense	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124803982G>C	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.881G>C	10.37:g.124803982G>C	ENSP00000357873:p.Arg294Thr					ACADSB_uc010qub.1_Missense_Mutation_p.R192T	p.R294T	NM_001609	NP_001600	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	7	998	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	294			Substrate binding.		B4DQ51|Q5SQN6|Q96CX7	Missense_Mutation	SNP	ENST00000358776.4	37	c.881G>C	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435759	0.83885	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.99735	-6.58;-6.58	5.7	5.7	0.88788	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99902	0.9953	H	0.99927	4.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95951	0.8954	10	0.87932	D	0	.	19.8241	0.96610	0.0:0.0:1.0:0.0	.	294	P45954	ACDSB_HUMAN	T	192;294	ENSP00000357862:R192T;ENSP00000357873:R294T	ENSP00000357873:R294T	R	+	2	0	ACADSB	124793972	1.000000	0.71417	0.927000	0.36925	0.747000	0.42532	9.726000	0.98782	2.669000	0.90835	0.591000	0.81541	AGA		0.358	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609		20	72	0	0	0	0	20	72				
EDRF1	26098	broad.mit.edu	37	10	127414362	127414362	+	Silent	SNP	C	C	T	rs150180630	byFrequency	TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:127414362C>T	ENST00000356792.4	+	6	979	c.747C>T	c.(745-747)ttC>ttT	p.F249F	C10orf137_ENST00000337623.3_Silent_p.F249F	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTGCTCCCTTCGAAATGCCTT	0.463																																						uc001liq.1		NA																	0				ovary(5)|large_intestine(3)|lung(2)	10						c.(745-747)TTC>TTT		erythroid differentiation-related factor 1		C	,	1,4405	2.1+/-5.4	0,1,2202	87.0	82.0	84.0		747,747	2.1	1.0	10	dbSNP_134	84	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	C10orf137	NM_001202438.1,NM_015608.2	,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,	249/1239,249/1205	127414362	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127414362C>T																												ENST00000356792.4:c.747C>T	10.37:g.127414362C>T						C10orf137_uc001lin.2_Silent_p.F249F|C10orf137_uc001lio.1_Silent_p.F249F|C10orf137_uc001lip.1_5'UTR	p.F249F	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN			6	1040	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	249					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Silent	SNP	ENST00000356792.4	37	c.747C>T	CCDS55733.1																																																																																				0.463	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			21	76	0	0	0	0	21	76				
OR52J3	119679	broad.mit.edu	37	11	5068023	5068023	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:5068023G>C	ENST00000380370.1	+	1	268	c.268G>C	c.(268-270)Gat>Cat	p.D90H		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTCTGGTTTGATGCTCACGA	0.498																																						uc010qyv.1		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(268-270)GAT>CAT		olfactory receptor, family 52, subfamily J,							140.0	119.0	126.0					11																	5068023		2201	4298	6499	SO:0001583	missense	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068023G>C	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.268G>C	11.37:g.5068023G>C	ENSP00000369728:p.Asp90His						p.D90H	NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	268	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	90			Extracellular (Potential).		Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	c.268G>C	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	G	2.696	-0.271992	0.05716	.	.	ENSG00000205495	ENST00000380370	T	0.03242	4.0	4.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.670897	0.12930	N	0.427413	T	0.02156	0.0067	N	0.26130	0.795	0.30831	N	0.736755	B	0.13594	0.008	B	0.15484	0.013	T	0.40384	-0.9566	10	0.07644	T	0.81	.	1.5928	0.02657	0.1922:0.1634:0.4765:0.168	.	90	Q8NH60	O52J3_HUMAN	H	90	ENSP00000369728:D90H	ENSP00000369728:D90H	D	+	1	0	OR52J3	5024599	0.000000	0.05858	1.000000	0.80357	0.438000	0.31896	-1.999000	0.01467	0.962000	0.38057	-0.140000	0.14226	GAT		0.498	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		19	112	0	0	0	0	19	112				
KIF18A	81930	broad.mit.edu	37	11	28104463	28104463	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:28104463G>C	ENST00000263181.6	-	9	1492	c.1202C>G	c.(1201-1203)aCt>aGt	p.T401S		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	401					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						ATTTTCATTAGTGAAGGCTTT	0.279																																						uc001msc.2		NA																	0				ovary(2)	2						c.(1201-1203)ACT>AGT		kinesin family member 18A							90.0	89.0	89.0					11																	28104463		2198	4290	6488	SO:0001583	missense	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28104463G>C	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.1202C>G	11.37:g.28104463G>C	ENSP00000263181:p.Thr401Ser						p.T401S	NM_031217	NP_112494	Q8NI77	KI18A_HUMAN			9	1384	-			401			Potential.		Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	c.1202C>G	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.229472	0.00280	.	.	ENSG00000121621	ENST00000263181	T	0.71222	-0.55	5.33	1.25	0.21368	.	1.060680	0.07174	N	0.852860	T	0.47930	0.1472	N	0.15975	0.35	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.26815	-1.0092	10	0.09084	T	0.74	.	5.4921	0.16781	0.203:0.0:0.5547:0.2423	.	401	Q8NI77	KI18A_HUMAN	S	401	ENSP00000263181:T401S	ENSP00000263181:T401S	T	-	2	0	KIF18A	28061039	0.832000	0.29368	0.001000	0.08648	0.028000	0.11728	1.076000	0.30729	0.043000	0.15746	0.650000	0.86243	ACT		0.279	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		23	75	0	0	0	0	23	75				
APLNR	187	broad.mit.edu	37	11	57004030	57004030	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:57004030G>A	ENST00000606794.1	-	1	645	c.449C>T	c.(448-450)aCg>aTg	p.T150M		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	150					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						AAGAACTGCCGTGGCCACGGC	0.647																																						uc001njo.2		NA																	0				lung(5)|ovary(1)	6						c.(448-450)ACG>ATG		apelin receptor							36.0	33.0	34.0					11																	57004030		2200	4294	6494	SO:0001583	missense	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57004030G>A	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.449C>T	11.37:g.57004030G>A	ENSP00000475344:p.Thr150Met					APLNR_uc001njn.3_RNA	p.T150M	NM_005161	NP_005152	P35414	APJ_HUMAN			1	898	-			150			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000606794.1	37	c.449C>T	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602779	0.46423	.	.	ENSG00000134817	ENST00000257254	T	0.71817	-0.6	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.148268	0.46758	D	0.000265	T	0.73450	0.3588	L	0.41573	1.285	0.36667	D	0.878255	D	0.61080	0.989	P	0.55923	0.787	T	0.79212	-0.1896	10	0.56958	D	0.05	-21.3249	14.1108	0.65120	0.0:0.1506:0.8494:0.0	.	150	P35414	APJ_HUMAN	M	150	ENSP00000257254:T150M	ENSP00000257254:T150M	T	-	2	0	APLNR	56760606	0.963000	0.33076	0.960000	0.40013	0.532000	0.34746	1.867000	0.39499	2.448000	0.82819	0.555000	0.69702	ACG		0.647	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		5	33	0	0	0	0	5	33				
VWCE	220001	broad.mit.edu	37	11	61039224	61039224	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:61039224G>C	ENST00000335613.5	-	14	2094	c.1708C>G	c.(1708-1710)Ctt>Gtt	p.L570V	VWCE_ENST00000535710.1_Missense_Mutation_p.L35V	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	570	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTGTCGTCAAGAGAGCAGCCT	0.532																																						uc001nra.2		NA																	0				ovary(1)	1						c.(1708-1710)CTT>GTT		von Willebrand factor C and EGF domains							112.0	83.0	93.0					11																	61039224		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61039224G>C	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1708C>G	11.37:g.61039224G>C	ENSP00000334186:p.Leu570Val					VWCE_uc001nrb.2_RNA	p.L570V	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			14	1987	-			570			VWFC 4.		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.1708C>G	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450142	0.43531	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.70869	-0.52;-0.52	4.77	4.77	0.60923	von Willebrand factor, type C (2);	0.000000	0.38959	N	0.001508	T	0.69886	0.3161	N	0.13043	0.29	0.30515	N	0.769054	D	0.63880	0.993	D	0.76071	0.987	T	0.67868	-0.5559	10	0.32370	T	0.25	.	12.3905	0.55356	0.0:0.1694:0.8306:0.0	.	570	Q96DN2	VWCE_HUMAN	V	570;35	ENSP00000334186:L570V;ENSP00000442570:L35V	ENSP00000334186:L570V	L	-	1	0	VWCE	60795800	1.000000	0.71417	0.986000	0.45419	0.480000	0.33159	2.724000	0.47285	2.187000	0.69744	0.455000	0.32223	CTT		0.532	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		2	16	0	0	0	0	2	16				
LGALS12	85329	broad.mit.edu	37	11	63283757	63283757	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:63283757G>A	ENST00000394618.3	+	9	1194	c.903G>A	c.(901-903)gcG>gcA	p.A301A	LGALS12_ENST00000415491.2_Silent_p.A240A|LGALS12_ENST00000255684.5_Silent_p.A292A|LGALS12_ENST00000425950.2_Silent_p.A231A|LGALS12_ENST00000340246.5_Silent_p.A302A	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	301	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						TGAAGCTGGCGCTCAATGGGC	0.632																																						uc001nxa.2		NA																	0				ovary(2)	2						c.(901-903)GCG>GCA		lectin, galactoside-binding, soluble, 12 isoform							47.0	47.0	47.0					11																	63283757		2201	4298	6499	SO:0001819	synonymous_variant	85329				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding	g.chr11:63283757G>A	AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.903G>A	11.37:g.63283757G>A						LGALS12_uc001nxb.2_Silent_p.A292A|LGALS12_uc001nxc.2_Silent_p.A302A|LGALS12_uc001nxd.2_Silent_p.A240A|LGALS12_uc001nxe.2_Silent_p.A231A|LGALS12_uc009yot.2_Silent_p.A261A	p.A301A	NM_033101	NP_149092	Q96DT0	LEG12_HUMAN			9	1244	+			301			Galectin 2.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000394618.3	37	c.903G>A	CCDS8045.1																																																																																				0.632	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	NM_033101		19	50	0	0	0	0	19	50				
PYGM	5837	broad.mit.edu	37	11	64519416	64519416	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:64519416T>A	ENST00000164139.3	-	14	2146	c.1748A>T	c.(1747-1749)cAt>cTt	p.H583L	PYGM_ENST00000377432.3_Missense_Mutation_p.H495L|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	583					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGTGATGACATGGAGGCAGTT	0.517																																						uc001oax.3		NA																	0				ovary(2)	2						c.(1747-1749)CAT>CTT		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)						169.0	145.0	153.0					11																	64519416		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64519416T>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1748A>T	11.37:g.64519416T>A	ENSP00000164139:p.His583Leu					PYGM_uc001oay.3_Missense_Mutation_p.H495L	p.H583L	NM_005609	NP_005600	P11217	PYGM_HUMAN			14	2565	-			583					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.1748A>T	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.843828	0.91197	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.93906	-3.23;-3.31	5.19	5.19	0.71726	.	0.000000	0.52532	D	0.000067	D	0.97736	0.9257	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.98698	1.0699	10	0.87932	D	0	-27.7848	13.0359	0.58870	0.0:0.0:0.0:1.0	.	495;583	A6NDY6;P11217	.;PYGM_HUMAN	L	495;583;564	ENSP00000366650:H495L;ENSP00000164139:H583L	ENSP00000164139:H583L	H	-	2	0	PYGM	64275992	1.000000	0.71417	0.442000	0.26870	0.949000	0.60115	7.832000	0.86757	2.179000	0.69175	0.459000	0.35465	CAT		0.517	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		20	95	0	0	0	0	20	95				
CCDC67	159989	broad.mit.edu	37	11	93148192	93148192	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:93148192G>A	ENST00000298050.3	+	13	1650	c.1550G>A	c.(1549-1551)aGa>aAa	p.R517K	CCDC67_ENST00000525646.1_Missense_Mutation_p.R259K	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	517					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GAGCCAAACAGAAGTACAATG	0.398																																						uc001pdq.2		NA																	0				ovary(1)	1						c.(1549-1551)AGA>AAA		coiled-coil domain containing 67							225.0	211.0	215.0					11																	93148192		1942	4150	6092	SO:0001583	missense	159989							g.chr11:93148192G>A	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.1550G>A	11.37:g.93148192G>A	ENSP00000298050:p.Arg517Lys					CCDC67_uc001pdo.1_Missense_Mutation_p.R517K	p.R517K	NM_181645	NP_857596	Q05D60	CCD67_HUMAN			13	1650	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	517					Q8NEF1|Q96LL7	Missense_Mutation	SNP	ENST00000298050.3	37	c.1550G>A	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	G	3.194	-0.165209	0.06461	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000525646	T;T;T	0.18174	2.23;2.23;2.23	5.46	-3.36	0.04913	.	1.165730	0.06146	N	0.673357	T	0.10766	0.0263	L	0.51422	1.61	0.09310	N	1	B;B	0.22211	0.007;0.066	B;B	0.18561	0.009;0.022	T	0.37033	-0.9723	10	0.07482	T	0.82	.	1.5087	0.02492	0.1485:0.2144:0.3051:0.332	.	517;509	Q05D60;Q6ZRU6	CCD67_HUMAN;.	K	517;517;259	ENSP00000432111:R517K;ENSP00000298050:R517K;ENSP00000435079:R259K	ENSP00000298050:R517K	R	+	2	0	CCDC67	92787840	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	-0.359000	0.07632	-0.442000	0.07190	-0.819000	0.03115	AGA		0.398	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		91	113	0	0	0	0	91	113				
C11orf88	399949	broad.mit.edu	37	11	111385713	111385713	+	Silent	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:111385713G>C	ENST00000375618.4	+	1	204	c.204G>C	c.(202-204)cgG>cgC	p.R68R	BTG4_ENST00000525791.1_5'Flank|MIR34B_ENST00000385076.1_RNA|C11orf88_ENST00000529167.1_Silent_p.R68R|MIR34C_ENST00000384831.1_RNA|C11orf88_ENST00000332814.6_Silent_p.R68R|BTG4_ENST00000356018.2_5'Flank|RP11-794P6.6_ENST00000530283.1_RNA	NM_001100388.1	NP_001093858.1	Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	68										endometrium(1)|large_intestine(3)|lung(2)	6						CGGTGGCGCGGCCCAGGAGGA	0.602											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pln.3		NA																	0					0						c.(202-204)CGG>CGC		hypothetical protein LOC399949 isoform 2							36.0	42.0	40.0					11																	111385713		2152	4277	6429	SO:0001819	synonymous_variant	399949							g.chr11:111385713G>C	BC039505, AK128145	CCDS41712.1, CCDS41713.1	11q23.1	2012-08-10			ENSG00000183644	ENSG00000183644			25061	protein-coding gene	gene with protein product	"""hypothetical gene supported by BC039505"""					12477932	Standard	NM_001100388		Approved	FLJ46266	uc009yyd.3	Q6PI97	OTTHUMG00000166720	ENST00000375618.4:c.204G>C	11.37:g.111385713G>C			OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1434	BTG4_uc001plj.2_5'Flank|BTG4_uc001plk.2_5'Flank|C11orf88_uc009yyd.2_Silent_p.R68R|C11orf88_uc001plo.1_Silent_p.R68R	p.R68R	NM_001100388	NP_001093858	Q6PI97	CK088_HUMAN			1	204	+			68					E9PAN0|Q6ZRL3	Silent	SNP	ENST00000375618.4	37	c.204G>C	CCDS41713.1																																																																																				0.602	C11orf88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391181.1	NM_001100388		17	70	0	0	0	0	17	70				
SLC6A13	6540	broad.mit.edu	37	12	333247	333247	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:333247G>A	ENST00000343164.4	-	11	1274	c.1222C>T	c.(1222-1224)Cac>Tac	p.H408Y	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Missense_Mutation_p.H316Y	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	408					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.H408N(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CGGAACACGTGAGGGTACATG	0.562																																						uc001qic.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1222-1224)CAC>TAC		solute carrier family 6 (neurotransmitter							119.0	99.0	106.0					12																	333247		2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:333247G>A	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1222C>T	12.37:g.333247G>A	ENSP00000339260:p.His408Tyr					SLC6A13_uc009zdj.1_Missense_Mutation_p.H398Y|SLC6A13_uc010sdl.1_Missense_Mutation_p.H316Y	p.H408Y	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		11	1275	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		408					B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.1222C>T	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	G	9.477	1.097249	0.20552	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.74002	-0.8;-0.8	5.5	-6.91	0.01649	.	0.858034	0.10712	N	0.642732	T	0.66117	0.2757	L	0.39633	1.23	0.09310	N	1	B;B;B	0.28584	0.216;0.008;0.002	B;B;B	0.43082	0.407;0.179;0.115	T	0.66256	-0.5969	10	0.56958	D	0.05	.	5.6855	0.17801	0.0629:0.36:0.2322:0.3449	.	316;387;408	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	Y	316;387;408	ENSP00000407104:H316Y;ENSP00000339260:H408Y	ENSP00000318097:H387Y	H	-	1	0	SLC6A13	203508	0.000000	0.05858	0.003000	0.11579	0.212000	0.24457	-0.330000	0.07925	-0.952000	0.03649	-0.479000	0.04858	CAC		0.562	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		25	61	0	0	0	0	25	61				
CHD4	1108	broad.mit.edu	37	12	6691446	6691446	+	Splice_Site	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:6691446C>T	ENST00000357008.2	-	30	4535	c.4372G>A	c.(4372-4374)Gca>Aca	p.A1458T	CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000309577.6_Splice_Site_p.A1486T|RP5-940J5.6_ENST00000501075.2_RNA|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544484.1_Splice_Site_p.A1483T|CHD4_ENST00000544040.1_Splice_Site_p.A1451T	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1458					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GAGACATATGCCCTGTGTAAA	0.488																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NA																	0				central_nervous_system(2)	2						c.(4372-4374)GCA>ACA		chromodomain helicase DNA binding protein 4							55.0	55.0	55.0					12																	6691446		2203	4300	6503	SO:0001630	splice_region_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6691446C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4371-1G>A	12.37:g.6691446C>T						CHD4_uc001qpn.2_Missense_Mutation_p.A1451T|CHD4_uc001qpp.2_Missense_Mutation_p.A1483T|uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	p.A1458T	NM_001273	NP_001264	Q14839	CHD4_HUMAN			30	4536	-			1458					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.4372G>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054834	0.75960	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.92249	-2.95;-3.0;-2.95;-2.99	5.76	5.76	0.90799	Domain of unknown function DUF1086 (1);	0.000000	0.85682	D	0.000000	D	0.96543	0.8872	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.97110	0.998;1.0;0.995	D	0.96563	0.9417	10	0.87932	D	0	-7.5132	19.9813	0.97326	0.0:1.0:0.0:0.0	.	1486;1458;1451	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	T	1483;1451;1486;1458;1432	ENSP00000440392:A1483T;ENSP00000440542:A1451T;ENSP00000312419:A1486T;ENSP00000349508:A1458T	ENSP00000312419:A1486T	A	-	1	0	CHD4	6561707	1.000000	0.71417	1.000000	0.80357	0.424000	0.31475	7.461000	0.80834	2.726000	0.93360	0.655000	0.94253	GCA		0.488	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	Missense_Mutation	21	70	0	0	0	0	21	70				
ATN1	1822	broad.mit.edu	37	12	7045557	7045557	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:7045557C>T	ENST00000356654.4	+	5	1364	c.1127C>T	c.(1126-1128)tCa>tTa	p.S376L	ATN1_ENST00000396684.2_Missense_Mutation_p.S376L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	376	Poly-Ser.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TTTCCTTATTCATCCTCTAGT	0.602																																						uc001qrw.1		NA																	0				ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(1126-1128)TCA>TTA		atrophin-1							94.0	94.0	94.0					12																	7045557		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045557C>T	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1127C>T	12.37:g.7045557C>T	ENSP00000349076:p.Ser376Leu					ATN1_uc001qrx.1_Missense_Mutation_p.S376L|ATN1_uc001qry.1_Missense_Mutation_p.S375L	p.S376L	NM_001007026	NP_001007027	P54259	ATN1_HUMAN			5	1364	+			376			Poly-Ser.		Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.1127C>T	CCDS31734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.30|11.30	1.598066|1.598066	0.28445|0.28445	.|.	.|.	ENSG00000111676|ENSG00000111676	ENST00000229279|ENST00000356654;ENST00000396684;ENST00000544325	.|T;T;T	.|0.54279	.|0.58;0.58;0.58	3.95|3.95	3.95|3.95	0.45737|0.45737	.|.	.|0.331507	.|0.16967	.|U	.|0.192244	T|T	0.38321|0.38321	0.1036|0.1036	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B	.|0.25441	.|0.126;0.072	.|B;B	.|0.28916	.|0.096;0.067	T|T	0.19877|0.19877	-1.0292|-1.0292	6|10	0.02654|0.22706	T|T	1|0.39	.|.	11.8918|11.8918	0.52633|0.52633	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|376;376	.|Q86V38;P54259	.|.;ATN1_HUMAN	Y|L	5|376	.|ENSP00000349076:S376L;ENSP00000379915:S376L;ENSP00000441744:S376L	ENSP00000229279:H5Y|ENSP00000349076:S376L	H|S	+|+	1|2	0|0	ATN1|ATN1	6915818|6915818	0.000000|0.000000	0.05858|0.05858	0.071000|0.071000	0.20095|0.20095	0.291000|0.291000	0.27294|0.27294	0.866000|0.866000	0.27954|0.27954	1.918000|1.918000	0.55548|0.55548	0.586000|0.586000	0.80456|0.80456	CAT|TCA		0.602	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		44	134	0	0	0	0	44	134				
KMT2D	8085	broad.mit.edu	37	12	49434325	49434325	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:49434325G>A	ENST00000301067.7	-	31	7227	c.7228C>T	c.(7228-7230)Cga>Tga	p.R2410*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2410	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R2140*(1)									GCAGGCACTCGGGAGAAAGGG	0.647																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		1	Substitution - Nonsense(1)		haematopoietic_and_lymphoid_tissue(1)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(7228-7230)CGA>TGA		myeloid/lymphoid or mixed-lineage leukemia 2							23.0	27.0	26.0					12																	49434325		2092	4222	6314	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49434325G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7228C>T	12.37:g.49434325G>A	ENSP00000301067:p.Arg2410*	HNSCC(34;0.089)					p.R2410*	NM_003482	NP_003473	O14686	MLL2_HUMAN			31	7228	-			2410			Pro-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.7228C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	47	13.515879	0.99747	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.21	4.29	0.51040	.	0.000000	0.31438	N	0.007660	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.9235	0.63948	0.0:0.0:0.8414:0.1586	.	.	.	.	X	2410	.	ENSP00000301067:R2410X	R	-	1	2	MLL2	47720592	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	2.281000	0.43452	1.270000	0.44297	0.591000	0.81541	CGA		0.647	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			8	41	0	0	0	0	8	41				
ESPL1	9700	broad.mit.edu	37	12	53680494	53680494	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:53680494C>T	ENST00000257934.4	+	18	4065	c.3974C>T	c.(3973-3975)tCt>tTt	p.S1325F	ESPL1_ENST00000552462.1_Missense_Mutation_p.S1325F	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1325					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AAGTTAGCCTCTGCTCCCCTG	0.562																																					Colon(53;1069 1201 2587 5382)	uc001sck.2		NA																	0				lung(1)|kidney(1)|skin(1)	3						c.(3973-3975)TCT>TTT		separase							49.0	42.0	44.0					12																	53680494		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53680494C>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3974C>T	12.37:g.53680494C>T	ENSP00000257934:p.Ser1325Phe					ESPL1_uc001scj.2_Missense_Mutation_p.S1000F|ESPL1_uc010soe.1_Intron	p.S1325F	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			18	4065	+			1325						Missense_Mutation	SNP	ENST00000257934.4	37	c.3974C>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969148	0.53614	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.13196	2.61;2.61	5.26	4.36	0.52297	.	0.719801	0.14622	N	0.308329	T	0.28499	0.0705	M	0.71581	2.175	0.18873	N	0.999989	D	0.58970	0.984	P	0.53861	0.736	T	0.08249	-1.0731	10	0.87932	D	0	.	11.7036	0.51585	0.0:0.8222:0.1778:0.0	.	1325	Q14674	ESPL1_HUMAN	F	1325;1000;1325	ENSP00000257934:S1325F;ENSP00000449831:S1325F	ENSP00000257934:S1325F	S	+	2	0	ESPL1	51966761	0.130000	0.22417	0.314000	0.25224	0.795000	0.44927	0.751000	0.26348	1.439000	0.47511	0.561000	0.74099	TCT		0.562	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		16	49	0	0	0	0	16	49				
ARHGAP9	64333	broad.mit.edu	37	12	57872434	57872434	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:57872434C>G	ENST00000356411.2	-	3	561	c.423G>C	c.(421-423)agG>agC	p.R141S	ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R141S|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R220S|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.R212S|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R141S|ARHGAP9_ENST00000430041.2_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	141					positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TGCTGACGCTCCTACACATTT	0.577																																						uc001sod.2		NA																	0				lung(1)	1						c.(634-636)AGG>AGC		Rho GTPase activating protein 9 isoform 1							96.0	90.0	92.0					12																	57872434		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57872434C>G	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.423G>C	12.37:g.57872434C>G	ENSP00000348782:p.Arg141Ser					ARHGAP9_uc001snz.2_5'Flank|ARHGAP9_uc001soa.2_5'Flank|ARHGAP9_uc001sob.2_Missense_Mutation_p.R141S|ARHGAP9_uc001soc.2_Missense_Mutation_p.R141S|ARHGAP9_uc001soe.1_Missense_Mutation_p.R220S|ARHGAP9_uc010sro.1_Missense_Mutation_p.R141S	p.R212S	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		6	829	-			141					B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.636G>C		.	.	.	.	.	.	.	.	.	.	C	13.43	2.234853	0.39498	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000552249	T;T;T;T;T	0.55760	2.63;2.59;1.29;2.6;0.5	4.49	2.13	0.27403	.	0.600221	0.15879	N	0.240159	T	0.56673	0.2001	L	0.37630	1.12	0.26345	N	0.977302	D;P;D;P;P	0.57899	0.97;0.888;0.981;0.827;0.734	P;P;D;P;B	0.69824	0.816;0.459;0.966;0.526;0.326	T	0.43523	-0.9386	10	0.62326	D	0.03	.	5.7933	0.18373	0.0:0.2253:0.0:0.7747	.	141;220;141;141;141	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9	.;.;RHG09_HUMAN;.;.	S	141;141;141;212;190;59	ENSP00000377380:R141S;ENSP00000348782:R141S;ENSP00000394307:R141S;ENSP00000377386:R212S;ENSP00000448358:R59S	ENSP00000344852:R190S	R	-	3	2	ARHGAP9	56158701	1.000000	0.71417	0.972000	0.41901	0.049000	0.14656	0.507000	0.22675	0.356000	0.24157	-0.302000	0.09304	AGG		0.577	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		38	158	0	0	0	0	38	158				
FAM19A2	338811	broad.mit.edu	37	12	62261196	62261196	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:62261196C>G	ENST00000416284.3	-	2	1595	c.11G>C	c.(10-12)aGa>aCa	p.R4T	FAM19A2_ENST00000551449.1_Missense_Mutation_p.R4T|FAM19A2_ENST00000551619.1_Missense_Mutation_p.R4T	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	4						cytoplasm (GO:0005737)				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		CTGTAAGTATCTCTTACTCAT	0.313																																						uc001sqw.2		NA																	0				ovary(1)	1						c.(10-12)AGA>ACA		family with sequence similarity 19 (chemokine							86.0	88.0	87.0					12																	62261196		2203	4297	6500	SO:0001583	missense	338811					cytoplasm		g.chr12:62261196C>G	AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.11G>C	12.37:g.62261196C>G	ENSP00000393987:p.Arg4Thr					FAM19A2_uc001sqx.2_Missense_Mutation_p.R4T|FAM19A2_uc001sqy.2_RNA	p.R4T	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)	2	1524	-			4					B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Missense_Mutation	SNP	ENST00000416284.3	37	c.11G>C	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148788	0.78001	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000551449;ENST00000552075;ENST00000549958;ENST00000548780	.	.	.	6.08	6.08	0.98989	.	0.071064	0.56097	D	0.000038	T	0.42381	0.1200	L	0.27053	0.805	0.34818	D	0.738428	P	0.35700	0.516	B	0.32289	0.143	T	0.46512	-0.9186	8	.	.	.	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	4	Q8N3H0	F19A2_HUMAN	T	4;4;4;5;11;5	.	.	R	-	2	0	FAM19A2	60547463	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.548000	0.67255	2.894000	0.99253	0.655000	0.94253	AGA		0.313	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539		23	113	0	0	0	0	23	113				
CPM	1368	broad.mit.edu	37	12	69250400	69250400	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:69250400C>T	ENST00000551568.1	-	9	1209	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q	CPM_ENST00000546373.1_Silent_p.Q383Q|CPM_ENST00000338356.3_Silent_p.Q383Q	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	383					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CACTGAAGTTCTGGGATTTCT	0.393																																						uc001sup.2		NA																	0					0						c.(1147-1149)CAG>CAA		carboxypeptidase M precursor							101.0	100.0	101.0					12																	69250400		2203	4300	6503	SO:0001819	synonymous_variant	1368				anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	g.chr12:69250400C>T	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"""renal carboxypeptidase"", ""urinary carboxypeptidase B"""	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.1149G>A	12.37:g.69250400C>T						CPM_uc001sur.2_Silent_p.Q383Q|CPM_uc001suq.2_Silent_p.Q383Q	p.Q383Q	NM_198320	NP_938079	P14384	CBPM_HUMAN	all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		9	1210	-	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		383					B2R800|Q9H2K9	Silent	SNP	ENST00000551568.1	37	c.1149G>A	CCDS8987.1																																																																																				0.393	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320		32	124	0	0	0	0	32	124				
CDK17	5128	broad.mit.edu	37	12	96691104	96691104	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:96691104C>G	ENST00000261211.3	-	9	1420	c.817G>C	c.(817-819)Gac>Cac	p.D273H	CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000542666.1_Missense_Mutation_p.D220H|CDK17_ENST00000543119.2_Missense_Mutation_p.D273H	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TGTTTCAGGTCTTTATCCTGG	0.338																																						uc001tep.1		NA																	0				ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7						c.(817-819)GAC>CAC		PCTAIRE protein kinase 2							165.0	136.0	145.0					12																	96691104		2203	4300	6503	SO:0001583	missense	5128						ATP binding|cyclin-dependent protein kinase activity	g.chr12:96691104C>G		CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.817G>C	12.37:g.96691104C>G	ENSP00000261211:p.Asp273His					CDK17_uc009ztk.2_Missense_Mutation_p.D273H|CDK17_uc010svb.1_Missense_Mutation_p.D220H	p.D273H	NM_002595	NP_002586	Q00537	CDK17_HUMAN			9	1306	-			273			Protein kinase.		A8K1U6|B2RCQ2|Q8NEB8	Missense_Mutation	SNP	ENST00000261211.3	37	c.817G>C	CCDS9061.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884330	0.91814	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	T;T;T	0.53206	0.63;0.63;0.63	5.37	5.37	0.77165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79953	0.4535	H	0.96142	3.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.86226	0.1634	10	0.87932	D	0	-15.2261	19.0867	0.93206	0.0:1.0:0.0:0.0	.	273;273	A8K1U6;Q00537	.;CDK17_HUMAN	H	273;273;220	ENSP00000261211:D273H;ENSP00000444459:D273H;ENSP00000442926:D220H	ENSP00000261211:D273H	D	-	1	0	CDK17	95215235	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.794000	0.85869	2.677000	0.91161	0.655000	0.94253	GAC		0.338	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595		9	67	0	0	0	0	9	67				
MYBPC1	4604	broad.mit.edu	37	12	102046500	102046500	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:102046500G>C	ENST00000550270.1	+	15	1496	c.1496G>C	c.(1495-1497)gGt>gCt	p.G499A	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000549145.1_Missense_Mutation_p.G512A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.G524A|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000547405.1_Missense_Mutation_p.G473A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.G524A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.G487A|MYBPC1_ENST00000392934.3_Missense_Mutation_p.G486A|MYBPC1_ENST00000547509.1_Missense_Mutation_p.G485A|MYBPC1_ENST00000536007.1_Missense_Mutation_p.G480A|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000452455.2_Missense_Mutation_p.G499A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.G499A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.G499A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.G499A|MYBPC1_ENST00000545503.2_Missense_Mutation_p.G499A|MYBPC1_ENST00000551300.1_Missense_Mutation_p.G400A			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	499	Ig-like C2-type 4.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GAAGATGAAGGTGATTATGTA	0.358																																						uc001tii.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(1495-1497)GGT>GCT		myosin binding protein C, slow type isoform 3							252.0	237.0	242.0					12																	102046500		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102046500G>C		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1496G>C	12.37:g.102046500G>C	ENSP00000449702:p.Gly499Ala					MYBPC1_uc001tig.2_Missense_Mutation_p.G524A|MYBPC1_uc010svq.1_Missense_Mutation_p.G486A|MYBPC1_uc001tih.2_Missense_Mutation_p.G524A|MYBPC1_uc001tij.2_Missense_Mutation_p.G499A|MYBPC1_uc010svr.1_Missense_Mutation_p.G499A|MYBPC1_uc010svs.1_Missense_Mutation_p.G499A|MYBPC1_uc010svt.1_Missense_Mutation_p.G487A|MYBPC1_uc010svu.1_Missense_Mutation_p.G480A|MYBPC1_uc001tik.2_Missense_Mutation_p.G473A	p.G499A	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			15	1598	+			499			Ig-like C2-type 4.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.1496G>C	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144875	0.77888	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.98	5.98	0.97165	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.248375	0.28236	N	0.016100	T	0.81192	0.4771	M	0.69463	2.115	0.80722	D	1	B;P;B;P;P;P;P;P;B;P	0.39216	0.177;0.664;0.116;0.664;0.478;0.526;0.613;0.664;0.196;0.613	B;P;B;P;B;P;B;P;B;P	0.48454	0.411;0.578;0.206;0.578;0.314;0.491;0.325;0.524;0.359;0.511	T	0.75651	-0.3244	10	0.25751	T	0.34	.	20.4447	0.99122	0.0:0.0:1.0:0.0	.	480;487;499;499;486;473;499;499;524;524	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	A	473;499;499;499;486;485;524;512;499;524;499;480;487;524;400;499	ENSP00000448175:G473A;ENSP00000400908:G499A;ENSP00000388989:G499A;ENSP00000353822:G499A;ENSP00000376665:G486A;ENSP00000447362:G485A;ENSP00000354845:G524A;ENSP00000447660:G512A;ENSP00000447900:G499A;ENSP00000440034:G499A;ENSP00000446128:G480A;ENSP00000442847:G487A;ENSP00000354849:G524A;ENSP00000447116:G400A;ENSP00000449702:G499A	ENSP00000353822:G499A	G	+	2	0	MYBPC1	100570631	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.411000	0.73298	2.834000	0.97654	0.655000	0.94253	GGT		0.358	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			54	199	0	0	0	0	54	199				
STAB2	55576	broad.mit.edu	37	12	104064480	104064480	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:104064480G>C	ENST00000388887.2	+	22	2470	c.2266G>C	c.(2266-2268)Gat>Cat	p.D756H	RP11-341G23.3_ENST00000550175.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCAGTGTGCAGATAGCCTCGG	0.502																																						uc001tjw.2		NA																	0				ovary(9)|skin(5)	14						c.(2266-2268)GAT>CAT		stabilin 2 precursor							74.0	66.0	69.0					12																	104064480		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104064480G>C	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2266G>C	12.37:g.104064480G>C	ENSP00000373539:p.Asp756His						p.D756H	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			22	2452	+			756			Extracellular (Potential).|EGF-like 6.			Missense_Mutation	SNP	ENST00000388887.2	37	c.2266G>C	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407382	0.83230	.	.	ENSG00000136011	ENST00000388887	D	0.87887	-2.31	5.33	4.45	0.53987	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.401073	0.26176	N	0.025899	D	0.92407	0.7590	M	0.90309	3.105	0.38066	D	0.936225	D	0.58970	0.984	P	0.54372	0.75	D	0.94246	0.7489	10	0.72032	D	0.01	.	12.7214	0.57144	0.0803:0.0:0.9197:0.0	.	756	Q8WWQ8	STAB2_HUMAN	H	756	ENSP00000373539:D756H	ENSP00000373539:D756H	D	+	1	0	STAB2	102588610	1.000000	0.71417	0.014000	0.15608	0.363000	0.29612	7.185000	0.77714	1.256000	0.44068	0.655000	0.94253	GAT		0.502	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			11	28	0	0	0	0	11	28				
CKAP4	10970	broad.mit.edu	37	12	106633144	106633144	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:106633144C>T	ENST00000378026.4	-	2	1603	c.1467G>A	c.(1465-1467)ctG>ctA	p.L489L	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	489						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CACTCCTCTTCAGCTCCTCCA	0.662																																						uc001tlk.2		NA																	0					0						c.(1465-1467)CTG>CTA		cytoskeleton-associated protein 4							51.0	49.0	50.0					12																	106633144		2203	4300	6503	SO:0001819	synonymous_variant	10970					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		g.chr12:106633144C>T	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.1467G>A	12.37:g.106633144C>T							p.L489L	NM_006825	NP_006816	Q07065	CKAP4_HUMAN			2	1551	-			489					Q504S5|Q53ES6	Silent	SNP	ENST00000378026.4	37	c.1467G>A	CCDS9103.1																																																																																				0.662	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			32	89	0	0	0	0	32	89				
SFSWAP	6433	broad.mit.edu	37	12	132195869	132195869	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:132195869G>A	ENST00000261674.4	+	1	236	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	SFSWAP_ENST00000541286.1_Missense_Mutation_p.R32Q	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	32					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GGGGGCAGCCGAGTGGAGCTC	0.697																																						uc001uja.1		NA																	0					0						c.(94-96)CGA>CAA		splicing factor, arginine/serine-rich 8							35.0	47.0	43.0					12																	132195869		2203	4300	6503	SO:0001583	missense	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132195869G>A	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.95G>A	12.37:g.132195869G>A	ENSP00000261674:p.Arg32Gln					SFRS8_uc010tbn.1_Missense_Mutation_p.R32Q|SFRS8_uc001ujb.1_5'UTR|SFRS8_uc001uiz.1_5'UTR	p.R32Q	NM_004592	NP_004583	Q12872	SFSWA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)	1	235	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		32					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	c.95G>A	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740150	0.69304	.	.	ENSG00000061936	ENST00000261674;ENST00000541286	T;T	0.09630	2.96;2.97	3.93	3.03	0.35002	.	0.533866	0.19051	N	0.124035	T	0.06962	0.0177	N	0.24115	0.695	0.33935	D	0.642498	B;B	0.19935	0.04;0.024	B;B	0.12837	0.008;0.003	T	0.22906	-1.0203	10	0.19147	T	0.46	-6.7622	10.0674	0.42313	0.0952:0.0:0.9048:0.0	.	32;32	F5H6B8;Q12872	.;SFSWA_HUMAN	Q	32	ENSP00000261674:R32Q;ENSP00000437738:R32Q	ENSP00000261674:R32Q	R	+	2	0	SFSWAP	130761822	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.378000	0.59568	0.995000	0.38917	0.561000	0.74099	CGA		0.697	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		8	32	0	0	0	0	8	32				
SLC7A1	6541	broad.mit.edu	37	13	30096553	30096553	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr13:30096553C>G	ENST00000380752.5	-	8	1476	c.1090G>C	c.(1090-1092)Gcc>Ccc	p.A364P	SLC7A1_ENST00000473577.1_5'Flank	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	364					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCAGCCATGGCATAGATAACC	0.498																																						uc001uso.2		NA																	0					0						c.(1090-1092)GCC>CCC		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						225.0	193.0	204.0					13																	30096553		2203	4300	6503	SO:0001583	missense	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30096553C>G	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1090G>C	13.37:g.30096553C>G	ENSP00000370128:p.Ala364Pro						p.A364P	NM_003045	NP_003036	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	8	1477	-		Lung SC(185;0.0257)|Breast(139;0.238)	364			Cytoplasmic (Potential).		Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	c.1090G>C	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	C	34	5.323808	0.95708	.	.	ENSG00000139514	ENST00000380752	D	0.91124	-2.79	4.89	4.89	0.63831	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97685	0.9241	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99116	1.0848	10	0.87932	D	0	.	17.5927	0.88001	0.0:1.0:0.0:0.0	.	364	P30825	CTR1_HUMAN	P	364	ENSP00000370128:A364P	ENSP00000370128:A364P	A	-	1	0	SLC7A1	28994553	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.560000	0.82277	2.717000	0.92951	0.650000	0.86243	GCC		0.498	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		30	150	0	0	0	0	30	150				
PCDH9	5101	broad.mit.edu	37	13	67800883	67800883	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr13:67800883C>A	ENST00000377865.2	-	1	1824	c.1690G>T	c.(1690-1692)Gat>Tat	p.D564Y	PCDH9_ENST00000456367.1_Missense_Mutation_p.D564Y|PCDH9_ENST00000544246.1_Missense_Mutation_p.D564Y|PCDH9_ENST00000377861.3_Missense_Mutation_p.D564Y|PCDH9_ENST00000328454.5_Missense_Mutation_p.D564Y			Q9HC56	PCDH9_HUMAN	protocadherin 9	564	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCATTCTCATCCAGAACAGTA	0.428																																						uc001vik.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(1690-1692)GAT>TAT		protocadherin 9 isoform 1 precursor							87.0	92.0	90.0					13																	67800883		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67800883C>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1690G>T	13.37:g.67800883C>A	ENSP00000367096:p.Asp564Tyr					PCDH9_uc001vil.2_Missense_Mutation_p.D564Y|PCDH9_uc010thl.1_Missense_Mutation_p.D564Y|PCDH9_uc001vin.3_Missense_Mutation_p.D564Y	p.D564Y	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	2382	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	564			Extracellular (Potential).|Cadherin 5.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1690G>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932301	0.52866	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	5.78	5.78	0.91487	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92941	0.7754	H	0.99130	4.44	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.95171	0.8290	10	0.87932	D	0	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	564;564;564;564	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	Y	564	ENSP00000442186:D564Y;ENSP00000367096:D564Y;ENSP00000401699:D564Y;ENSP00000332060:D564Y;ENSP00000367092:D564Y	ENSP00000332060:D564Y	D	-	1	0	PCDH9	66698884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.894000	0.99253	0.655000	0.94253	GAT		0.428	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		33	155	1	0	1.75e-11	1.92e-11	33	155				
RBM26	64062	broad.mit.edu	37	13	79933752	79933752	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr13:79933752G>A	ENST00000438737.2	-	10	1927	c.1487C>T	c.(1486-1488)tCt>tTt	p.S496F	RBM26_ENST00000267229.7_Missense_Mutation_p.S496F|RBM26_ENST00000438724.1_Missense_Mutation_p.S496F			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	496					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		AGGCTCTCCAGAACCAATGGT	0.363																																						uc001vkz.2		NA																	0				ovary(1)	1						c.(1501-1503)TCT>TTT		RNA binding motif protein 26							158.0	152.0	154.0					13																	79933752		2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79933752G>A	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.1487C>T	13.37:g.79933752G>A	ENSP00000387531:p.Ser496Phe					RBM26_uc001vky.2_Missense_Mutation_p.S496F|RBM26_uc001vla.2_Missense_Mutation_p.S496F|RBM26_uc001vkx.2_Missense_Mutation_p.S208F	p.S501F	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	10	1516	-		Acute lymphoblastic leukemia(28;0.0279)	496					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.1502C>T		.	.	.	.	.	.	.	.	.	.	G	19.19	3.779853	0.70222	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.50001	0.76;0.76	5.68	5.68	0.88126	.	0.351713	0.32161	N	0.006496	T	0.41236	0.1150	L	0.27053	0.805	0.39173	D	0.962622	P;P;P	0.45902	0.815;0.868;0.815	B;B;B	0.42422	0.387;0.289;0.387	T	0.20140	-1.0284	9	.	.	.	-19.1019	20.1467	0.98079	0.0:0.0:1.0:0.0	.	496;496;496	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	F	496;497;496;496	ENSP00000267229:S496F;ENSP00000390222:S496F	.	S	-	2	0	RBM26	78831753	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.432000	0.66514	2.838000	0.97847	0.655000	0.94253	TCT		0.363	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		70	202	0	0	0	0	70	202				
TGDS	23483	broad.mit.edu	37	13	95233394	95233394	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr13:95233394G>C	ENST00000261296.5	-	6	626	c.506C>G	c.(505-507)tCt>tGt	p.S169C	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	169					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					AGCTGCTTTAGATGATGCATA	0.299																																						uc001vlw.2		NA																	0					0						c.(505-507)TCT>TGT		TDP-glucose 4,6-dehydratase							84.0	83.0	83.0					13																	95233394		2203	4299	6502	SO:0001583	missense	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95233394G>C	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	20324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 2E, member 1"""					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.506C>G	13.37:g.95233394G>C	ENSP00000261296:p.Ser169Cys					TGDS_uc001vlx.2_RNA	p.S169C	NM_014305	NP_055120	O95455	TGDS_HUMAN			6	627	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		169					Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Missense_Mutation	SNP	ENST00000261296.5	37	c.506C>G	CCDS9471.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137871	0.77775	.	.	ENSG00000088451	ENST00000261296	D	0.91792	-2.91	5.44	5.44	0.79542	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.113194	0.64402	D	0.000007	D	0.97564	0.9202	H	0.96460	3.825	0.58432	D	0.999999	D	0.89917	1.0	D	0.77004	0.989	D	0.98616	1.0665	10	0.87932	D	0	.	19.2599	0.93964	0.0:0.0:1.0:0.0	.	169	O95455	TGDS_HUMAN	C	169	ENSP00000261296:S169C	ENSP00000261296:S169C	S	-	2	0	TGDS	94031395	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.466000	0.80914	2.549000	0.85964	0.655000	0.94253	TCT		0.299	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305		16	77	0	0	0	0	16	77				
HOMEZ	57594	broad.mit.edu	37	14	23745733	23745733	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr14:23745733C>T	ENST00000357460.5	-	2	868	c.704G>A	c.(703-705)aGg>aAg	p.R235K	HOMEZ_ENST00000561013.1_Missense_Mutation_p.R237K|HOMEZ_ENST00000431326.2_Missense_Mutation_p.R237K	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTTGGGACCCCTGCCTGCCTG	0.542																																						uc001wja.2		NA																	0					0						c.(703-705)AGG>AAG		homeodomain leucine zipper protein							76.0	78.0	77.0					14																	23745733		2069	4207	6276	SO:0001583	missense	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23745733C>T	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.704G>A	14.37:g.23745733C>T	ENSP00000350049:p.Arg235Lys					HOMEZ_uc001wjb.2_Missense_Mutation_p.R237K	p.R235K	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	852	-	all_cancers(95;5.54e-06)		235					A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	c.704G>A	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030274	0.35797	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.23552	1.9;1.9	6.17	2.42	0.29668	.	0.303345	0.34178	N	0.004189	T	0.13756	0.0333	L	0.27053	0.805	0.21984	N	0.999434	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.35895	-0.9770	10	0.06757	T	0.87	-1.1954	9.2313	0.37439	0.0:0.7164:0.0:0.2836	.	237;235	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	K	235;237	ENSP00000350049:R235K;ENSP00000406579:R237K	ENSP00000350049:R235K	R	-	2	0	HOMEZ	22815573	0.557000	0.26546	0.972000	0.41901	0.923000	0.55619	0.116000	0.15561	0.190000	0.20209	0.655000	0.94253	AGG		0.542	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		37	105	0	0	0	0	37	105				
SLC22A17	51310	broad.mit.edu	37	14	23816792	23816792	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr14:23816792G>A	ENST00000206544.8	-	7	1429	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	SLC22A17_ENST00000354772.3_Missense_Mutation_p.R365W|SLC22A17_ENST00000397267.1_Missense_Mutation_p.R365W|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397260.3_Missense_Mutation_p.R254W	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	365					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGGATGCCCCGGCGGCCAAAT	0.632																																						uc001wjl.2		NA																	0					0						c.(1093-1095)CGG>TGG		solute carrier family 22, member 17 isoform a							48.0	54.0	52.0					14																	23816792		2203	4300	6503	SO:0001583	missense	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23816792G>A	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.1093C>T	14.37:g.23816792G>A	ENSP00000206544:p.Arg365Trp					SLC22A17_uc010akk.2_Missense_Mutation_p.R147W|SLC22A17_uc001wjn.2_RNA|SLC22A17_uc001wjm.2_Missense_Mutation_p.R365W	p.R365W	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	7	1149	-	all_cancers(95;7.12e-06)		365					A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Missense_Mutation	SNP	ENST00000206544.8	37	c.1093C>T	CCDS9593.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808469	0.70797	.	.	ENSG00000092096	ENST00000354772;ENST00000397260;ENST00000206544;ENST00000397267	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.04	5.04	0.67666	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.153974	0.43110	D	0.000614	D	0.92528	0.7627	M	0.83223	2.63	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93343	0.6711	10	0.87932	D	0	-20.177	15.4089	0.74902	0.0:0.0:1.0:0.0	.	365;365	Q8WUG5-2;Q8WUG5	.;S22AH_HUMAN	W	365;254;365;365	ENSP00000346824:R365W;ENSP00000380430:R254W;ENSP00000206544:R365W;ENSP00000380437:R365W	ENSP00000206544:R365W	R	-	1	2	SLC22A17	22886632	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.459000	0.53021	2.629000	0.89072	0.655000	0.94253	CGG		0.632	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372		24	62	0	0	0	0	24	62				
CLMN	79789	broad.mit.edu	37	14	95670229	95670229	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr14:95670229G>A	ENST00000298912.4	-	9	1570	c.1457C>T	c.(1456-1458)tCt>tTt	p.S486F		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	486					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GACCTTGTCAGAGGAGGATTC	0.468																																						uc001yef.2		NA																	0					0						c.(1456-1458)TCT>TTT		calmin							64.0	64.0	64.0					14																	95670229		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95670229G>A	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1457C>T	14.37:g.95670229G>A	ENSP00000298912:p.Ser486Phe						p.S486F	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	1573	-			486					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.1457C>T	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.506255	0.44558	.	.	ENSG00000165959	ENST00000298912	D	0.93426	-3.22	5.48	3.27	0.37495	.	0.382551	0.19415	N	0.114851	D	0.91838	0.7417	L	0.59436	1.845	0.09310	N	1	P	0.50272	0.933	P	0.48030	0.564	D	0.85636	0.1273	10	0.72032	D	0.01	.	7.4957	0.27487	0.1011:0.1737:0.7252:0.0	.	486	Q96JQ2	CLMN_HUMAN	F	486	ENSP00000298912:S486F	ENSP00000298912:S486F	S	-	2	0	CLMN	94739982	0.046000	0.20272	0.018000	0.16275	0.007000	0.05969	1.778000	0.38614	1.273000	0.44346	0.655000	0.94253	TCT		0.468	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			25	50	0	0	0	0	25	50				
SYNE3	161176	broad.mit.edu	37	14	95906119	95906119	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr14:95906119C>A	ENST00000334258.5	-	12	2090	c.2076G>T	c.(2074-2076)agG>agT	p.R692S	SYNE3_ENST00000554873.1_Missense_Mutation_p.R449S|SYNE3_ENST00000557275.1_Missense_Mutation_p.R692S	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	692					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CTGCCACCAGCCTCTAAAGGA	0.607																																						uc001yei.3		NA																	0				central_nervous_system(1)	1						c.(2074-2076)AGG>AGT		nesprin-3							40.0	43.0	42.0					14																	95906119		2203	4300	6503	SO:0001583	missense	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95906119C>A	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2076G>T	14.37:g.95906119C>A	ENSP00000334308:p.Arg692Ser					C14orf49_uc010avi.2_Missense_Mutation_p.R692S	p.R692S	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	12	2091	-		all_cancers(154;0.0937)	692			Spectrin 2.|Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.2076G>T	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830287	0.50845	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.51817	0.69;0.69;0.69	5.34	2.56	0.30785	.	0.146500	0.31624	N	0.007330	T	0.51635	0.1686	M	0.72894	2.215	0.80722	D	1	P;P	0.45768	0.837;0.866	P;P	0.51170	0.53;0.661	T	0.44967	-0.9293	10	0.31617	T	0.26	-8.4042	6.8117	0.23809	0.0:0.6638:0.0:0.3362	.	692;692	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	S	692;449;692	ENSP00000334308:R692S;ENSP00000452154:R449S;ENSP00000450562:R692S	ENSP00000334308:R692S	R	-	3	2	C14orf49	94975872	0.013000	0.17824	0.942000	0.38095	0.922000	0.55478	-0.352000	0.07701	0.655000	0.30866	0.561000	0.74099	AGG		0.607	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		24	63	1	0	3.01e-09	3.28e-09	24	63				
PACS2	23241	broad.mit.edu	37	14	105850745	105850745	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr14:105850745C>G	ENST00000325438.8	+	17	2328	c.1824C>G	c.(1822-1824)ttC>ttG	p.F608L	PACS2_ENST00000430725.2_Missense_Mutation_p.F533L|PACS2_ENST00000458164.2_Missense_Mutation_p.F612L|PACS2_ENST00000547217.1_Missense_Mutation_p.F578L|PACS2_ENST00000551743.1_Missense_Mutation_p.F122L|PACS2_ENST00000447393.1_Missense_Mutation_p.F612L			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	608					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ACAACAACTTCTTCCAGGACC	0.677																																						uc001yqt.2		NA																	0				pancreas(1)	1						c.(1822-1824)TTC>TTG		phosphofurin acidic cluster sorting protein 2							49.0	40.0	44.0					14																	105850745		2203	4299	6502	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105850745C>G	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1824C>G	14.37:g.105850745C>G	ENSP00000321834:p.Phe608Leu					PACS2_uc001yqs.2_Missense_Mutation_p.F533L|PACS2_uc001yqv.2_Missense_Mutation_p.F612L|PACS2_uc001yqu.2_Missense_Mutation_p.F612L	p.F608L	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	17	1999	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	608					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.1824C>G	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	C	6.119	0.390174	0.11581	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743	T;T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13;1.13	4.44	2.6	0.31112	.	0.174032	0.48286	N	0.000183	T	0.11537	0.0281	N	0.00525	-1.395	0.39424	D	0.966964	B;B;B;B	0.16396	0.001;0.001;0.017;0.002	B;B;B;B	0.25140	0.004;0.002;0.058;0.004	T	0.32851	-0.9891	10	0.02654	T	1	-23.3706	10.0712	0.42335	0.0:0.8436:0.0:0.1564	.	612;612;608;609	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	L	533;608;612;612;578;122	ENSP00000393524:F533L;ENSP00000321834:F608L;ENSP00000399732:F612L;ENSP00000393559:F612L;ENSP00000449525:F578L;ENSP00000449254:F122L	ENSP00000321834:F608L	F	+	3	2	PACS2	104921790	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.990000	0.40717	0.431000	0.26258	0.655000	0.94253	TTC		0.677	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		12	35	0	0	0	0	12	35				
RASL12	51285	broad.mit.edu	37	15	65357567	65357567	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr15:65357567C>T	ENST00000220062.4	-	2	424	c.148G>A	c.(148-150)Gac>Aac	p.D50N	RASL12_ENST00000434605.2_Missense_Mutation_p.D39N|RASL12_ENST00000421977.3_Intron	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	50					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						AAGTTGGGGTCATATTCACTG	0.572																																						uc002aoi.1		NA																	0				skin(1)	1						c.(148-150)GAC>AAC		RAS-like, family 12 protein							133.0	98.0	110.0					15																	65357567		2202	4299	6501	SO:0001583	missense	51285				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr15:65357567C>T	AF233588	CCDS10200.1	15q11.2-q22.33	2014-05-09			ENSG00000103710	ENSG00000103710			30289	protein-coding gene	gene with protein product	"""Ras family member Ris"""					12107412	Standard	NM_016563		Approved	RIS	uc002aoi.1	Q9NYN1	OTTHUMG00000133115	ENST00000220062.4:c.148G>A	15.37:g.65357567C>T	ENSP00000220062:p.Asp50Asn					RASL12_uc002aoj.1_Intron|RASL12_uc010uir.1_Missense_Mutation_p.D39N	p.D50N	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN			2	363	-			50					B2RC29|B4DJW2|B4DU82	Missense_Mutation	SNP	ENST00000220062.4	37	c.148G>A	CCDS10200.1	.	.	.	.	.	.	.	.	.	.	C	33	5.270382	0.95429	.	.	ENSG00000103710	ENST00000220062;ENST00000434605	T;T	0.76968	-1.06;-1.06	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89515	0.6737	M	0.82193	2.58	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.77004	0.989;0.952	D	0.90297	0.4327	10	0.87932	D	0	.	19.7917	0.96461	0.0:1.0:0.0:0.0	.	39;50	B4DU82;Q9NYN1	.;RASLC_HUMAN	N	50;39	ENSP00000220062:D50N;ENSP00000412787:D39N	ENSP00000220062:D50N	D	-	1	0	RASL12	63144620	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.658000	0.74407	2.688000	0.91661	0.563000	0.77884	GAC		0.572	RASL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256782.2	NM_016563		8	20	0	0	0	0	8	20				
WHAMM	123720	broad.mit.edu	37	15	83495204	83495204	+	Missense_Mutation	SNP	G	G	A	rs199867688		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr15:83495204G>A	ENST00000286760.4	+	7	1600	c.1501G>A	c.(1501-1503)Gaa>Aaa	p.E501K		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	501	Mediates interaction with microtubules. {ECO:0000269|PubMed:23027905}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						GCAACAGGCTGAAGAAAGCAT	0.408													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19689	0.0		0.0	False		,,,				2504	0.0					uc002bje.2		NA																	0					0						c.(1501-1503)GAA>AAA		WAS protein homolog associated with actin, golgi							137.0	131.0	133.0					15																	83495204		1927	4134	6061	SO:0001583	missense	123720					cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding	g.chr15:83495204G>A	AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"""WAS protein homology region 2 domain containing 1"""	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.1501G>A	15.37:g.83495204G>A	ENSP00000286760:p.Glu501Lys						p.E501K	NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN			7	2007	+			501					Q8N1J9	Missense_Mutation	SNP	ENST00000286760.4	37	c.1501G>A	CCDS45333.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	9.284	1.048822	0.19827	.	.	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.06933	3.24	5.67	2.66	0.31614	.	0.406919	0.28859	N	0.013907	T	0.04452	0.0122	N	0.19112	0.55	0.28072	N	0.932553	B	0.28350	0.208	B	0.25759	0.063	T	0.40117	-0.9580	10	0.08837	T	0.75	.	8.8222	0.35032	0.1654:0.1581:0.6766:0.0	.	501	Q8TF30	WHAMM_HUMAN	K	501	ENSP00000286760:E501K	ENSP00000234505:E501K	E	+	1	0	WHAMM	81292258	0.579000	0.26725	0.497000	0.27552	0.989000	0.77384	0.834000	0.27518	0.730000	0.32425	0.557000	0.71058	GAA		0.408	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1			37	133	0	0	0	0	37	133				
ZNF592	9640	broad.mit.edu	37	15	85341666	85341666	+	Silent	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr15:85341666C>G	ENST00000560079.2	+	7	2985	c.2697C>G	c.(2695-2697)ctC>ctG	p.L899L	ZNF592_ENST00000299927.3_Silent_p.L899L	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	899					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGTGCCCACTCTTGTTCGTGC	0.567																																						uc002bld.2		NA																	0				ovary(4)|skin(2)	6						c.(2695-2697)CTC>CTG		zinc finger protein 592							67.0	57.0	61.0					15																	85341666		2203	4299	6502	SO:0001819	synonymous_variant	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85341666C>G	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.2697C>G	15.37:g.85341666C>G						ZNF592_uc010upb.1_RNA	p.L899L	NM_014630	NP_055445	Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		7	3033	+			899			C2H2-type 8.		Q2M1T2|Q504Y9	Silent	SNP	ENST00000560079.2	37	c.2697C>G	CCDS32317.1																																																																																				0.567	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		29	60	0	0	0	0	29	60				
AGBL1	123624	broad.mit.edu	37	15	87097594	87097594	+	Silent	SNP	T	T	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr15:87097594T>C	ENST00000441037.2	+	20	2777	c.2682T>C	c.(2680-2682)acT>acC	p.T894T	AGBL1_ENST00000421325.2_Silent_p.T894T|AGBL1_ENST00000389298.3_Silent_p.T625T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	894					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TACTGTAGACTCTTCCCAAAA	0.418																																						uc002blz.1		NA																	0					0						c.(2680-2682)ACT>ACC		ATP/GTP binding protein-like 1							27.0	27.0	27.0					15																	87097594		1850	4095	5945	SO:0001819	synonymous_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:87097594T>C	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2682T>C	15.37:g.87097594T>C							p.T894T	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			20	2762	+			894					A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	c.2682T>C	CCDS58398.1																																																																																				0.418	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		4	7	0	0	0	0	4	7				
WDR90	197335	broad.mit.edu	37	16	711778	711778	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:711778C>T	ENST00000293879.4	+	31	3855	c.3855C>T	c.(3853-3855)atC>atT	p.I1285I	WDR90_ENST00000549091.1_Silent_p.I1285I			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1285										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGGCAGACATCAGCCTTCAGG	0.647																																						uc002cii.1		NA																	0				ovary(1)	1						c.(3853-3855)ATC>ATT		WD repeat domain 90							46.0	54.0	51.0					16																	711778		2129	4243	6372	SO:0001819	synonymous_variant	197335							g.chr16:711778C>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3855C>T	16.37:g.711778C>T						WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Silent_p.I812I|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Silent_p.I459I|WDR90_uc002cin.1_5'UTR	p.I1285I	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			31	3909	+		Hepatocellular(780;0.0218)	1285			WD 14.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.3855C>T	CCDS42092.1																																																																																				0.647	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		32	101	0	0	0	0	32	101				
WDR90	197335	broad.mit.edu	37	16	716485	716485	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:716485C>T	ENST00000293879.4	+	38	4771	c.4771C>T	c.(4771-4773)Cta>Tta	p.L1591L	RHOT2_ENST00000315082.4_5'Flank|WDR90_ENST00000547944.1_Silent_p.L190L|WDR90_ENST00000549091.1_Silent_p.L1593L|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000315764.4_Intron			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1591								p.L1591V(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGGCACAGACCTATGGCTGGC	0.632																																						uc002cii.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4771-4773)CTA>TTA		WD repeat domain 90							33.0	42.0	39.0					16																	716485		2033	4175	6208	SO:0001819	synonymous_variant	197335							g.chr16:716485C>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4771C>T	16.37:g.716485C>T						WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Silent_p.L206L|WDR90_uc010uul.1_Intron|WDR90_uc002cio.1_Silent_p.L190L|WDR90_uc010bqx.1_Intron|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank	p.L1591L	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			38	4825	+		Hepatocellular(780;0.0218)	1591			WD 20.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.4771C>T	CCDS42092.1																																																																																				0.632	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		13	36	0	0	0	0	13	36				
GLYR1	84656	broad.mit.edu	37	16	4863755	4863755	+	Missense_Mutation	SNP	C	C	T	rs200059061		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:4863755C>T	ENST00000321919.9	-	12	1178	c.1102G>A	c.(1102-1104)Gtc>Atc	p.V368I	GLYR1_ENST00000591451.1_Missense_Mutation_p.V362I|GLYR1_ENST00000436648.5_Missense_Mutation_p.V287I|GLYR1_ENST00000381983.3_Missense_Mutation_p.V351I	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	368					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						AGCTCAGTGACGGTGTCAGCG	0.592																																						uc002cxx.3		NA																	0					0						c.(1102-1104)GTC>ATC		cytokine-like nuclear factor n-pac							72.0	55.0	61.0					16																	4863755		2197	4300	6497	SO:0001583	missense	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4863755C>T	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1102G>A	16.37:g.4863755C>T	ENSP00000322716:p.Val368Ile					GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.V282I|GLYR1_uc002cya.2_Missense_Mutation_p.V362I|GLYR1_uc010uxv.1_Missense_Mutation_p.V287I	p.V368I	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN			12	1139	-			368					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	37	c.1102G>A	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067751	0.36470	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.68479	-0.02;-0.01;-0.33	5.37	5.37	0.77165	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);	0.050393	0.85682	D	0.000000	T	0.51312	0.1667	N	0.12961	0.28	0.45995	D	0.998808	B;B;B;B	0.09022	0.0;0.002;0.002;0.001	B;B;B;B	0.12837	0.004;0.005;0.005;0.008	T	0.43163	-0.9408	10	0.20519	T	0.43	-24.889	18.2373	0.89954	0.0:1.0:0.0:0.0	.	287;362;351;368	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	I	368;351;287	ENSP00000322716:V368I;ENSP00000371413:V351I;ENSP00000390276:V287I	ENSP00000322716:V368I	V	-	1	0	GLYR1	4803756	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	5.551000	0.67274	2.667000	0.90743	0.655000	0.94253	GTC		0.592	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		6	29	0	0	0	0	6	29				
TMC7	79905	broad.mit.edu	37	16	19063127	19063127	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:19063127C>G	ENST00000304381.5	+	13	1990	c.1860C>G	c.(1858-1860)atC>atG	p.I620M	TMC7_ENST00000421369.3_Missense_Mutation_p.I510M|TMC7_ENST00000569532.1_Missense_Mutation_p.I620M	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	620					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTCTGACAATCAGCATATCAC	0.413																																						uc002dfq.2		NA																	0				skin(2)|ovary(1)	3						c.(1858-1860)ATC>ATG		transmembrane channel-like 7 isoform a							249.0	233.0	239.0					16																	19063127		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19063127C>G	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1860C>G	16.37:g.19063127C>G	ENSP00000304710:p.Ile620Met					TMC7_uc002dfp.2_Missense_Mutation_p.I620M|TMC7_uc010vap.1_Missense_Mutation_p.I510M	p.I620M	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN			13	1990	+			620			Helical; (Potential).		E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.1860C>G	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482427	0.63962	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.73047	-0.6;-0.71	5.62	5.62	0.85841	.	0.294870	0.33753	N	0.004584	T	0.62024	0.2394	L	0.34521	1.04	0.38110	D	0.937527	B;P	0.36712	0.413;0.566	B;B	0.40165	0.19;0.321	T	0.67569	-0.5637	10	0.56958	D	0.05	.	10.1571	0.42829	0.0:0.8527:0.0:0.1473	.	620;620	Q7Z402;B3KSZ3	TMC7_HUMAN;.	M	620;510	ENSP00000304710:I620M;ENSP00000397081:I510M	ENSP00000304710:I620M	I	+	3	3	TMC7	18970628	0.997000	0.39634	0.998000	0.56505	0.996000	0.88848	1.151000	0.31651	2.634000	0.89283	0.655000	0.94253	ATC		0.413	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		70	316	0	0	0	0	70	316				
SEPHS2	22928	broad.mit.edu	37	16	30456439	30456439	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:30456439C>T	ENST00000478753.2	-	1	1063	c.610G>A	c.(610-612)Gag>Aag	p.E204K	SEPHS2_ENST00000542752.1_Missense_Mutation_p.E147K|SEPHS2_ENST00000500504.2_Missense_Mutation_p.E204K			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	204					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CCTCCTTCCTCAGCCGCATCC	0.517																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	uc010ves.1		NA																	0				breast(2)	2						c.(610-612)GAG>AAG		selenophosphate synthetase 2							114.0	112.0	112.0					16																	30456439		2147	4235	6382	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456439C>T	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.610G>A	16.37:g.30456439C>T	ENSP00000418669:p.Glu204Lys					SEPHS2_uc002dyh.1_Missense_Mutation_p.E147K|SEPHS2_uc010vet.1_Missense_Mutation_p.E86K	p.E204K	NM_012248	NP_036380	Q99611	SPS2_HUMAN			2	786	-			204					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.610G>A		.	.	.	.	.	.	.	.	.	.	C	9.886	1.202888	0.22121	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.29397	1.57;1.57;1.57	5.46	5.46	0.80206	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.000000	0.85682	D	0.000000	T	0.20333	0.0489	N	0.20357	0.565	0.80722	D	1	B;B	0.15141	0.012;0.002	B;B	0.20577	0.03;0.004	T	0.05257	-1.0896	10	0.06365	T	0.9	-25.8708	17.1792	0.86850	0.0:1.0:0.0:0.0	.	204;147	Q99611;F5H8F9	SPS2_HUMAN;.	K	204;147;155;204	ENSP00000418669:E204K;ENSP00000443601:E147K;ENSP00000426234:E204K	ENSP00000390233:E155K	E	-	1	0	SEPHS2	30363940	1.000000	0.71417	0.955000	0.39395	0.036000	0.12997	7.438000	0.80431	2.726000	0.93360	0.655000	0.94253	GAG		0.517	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		34	106	0	0	0	0	34	106				
SETD1A	9739	broad.mit.edu	37	16	30976423	30976423	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:30976423G>A	ENST00000262519.8	+	7	2046	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	454	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCCTGAGAGAGAAGAAGTTCG	0.697																																						uc002ead.1		NA																	0				ovary(2)|skin(1)	3						c.(1360-1362)GAA>AAA		SET domain containing 1A							19.0	24.0	22.0					16																	30976423		2185	4280	6465	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30976423G>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1360G>A	16.37:g.30976423G>A	ENSP00000262519:p.Glu454Lys						p.E454K	NM_014712	NP_055527	O15047	SET1A_HUMAN			7	2046	+			454			Pro-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.1360G>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298471	0.60195	.	.	ENSG00000099381	ENST00000262519	D	0.93953	-3.32	5.55	5.55	0.83447	.	0.617905	0.15835	N	0.242303	D	0.85440	0.5697	N	0.08118	0	0.33048	D	0.53237	P	0.52842	0.956	B	0.38500	0.275	D	0.88251	0.2916	10	0.41790	T	0.15	.	16.4092	0.83701	0.0:0.0:1.0:0.0	.	454	O15047	SET1A_HUMAN	K	454	ENSP00000262519:E454K	ENSP00000262519:E454K	E	+	1	0	SETD1A	30883924	0.999000	0.42202	0.997000	0.53966	0.814000	0.46013	3.671000	0.54576	2.601000	0.87937	0.561000	0.74099	GAA		0.697	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		11	41	0	0	0	0	11	41				
RPGRIP1L	23322	broad.mit.edu	37	16	53730193	53730193	+	Missense_Mutation	SNP	G	G	A	rs565245381		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:53730193G>A	ENST00000379925.3	-	3	150	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.R34W|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.R34W|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.R34W|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R34W|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R34W	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	34					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TTCATTGTCCGTGTTGTTGAA	0.373																																						uc002ehp.2		NA																	0				ovary(1)	1						c.(100-102)CGG>TGG		RPGRIP1-like isoform a							153.0	153.0	153.0					16																	53730193		2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53730193G>A		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.100C>T	16.37:g.53730193G>A	ENSP00000369257:p.Arg34Trp					RPGRIP1L_uc002eho.3_Missense_Mutation_p.R34W|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.R34W|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.R34W|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R34W|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.R34W|RPGRIP1L_uc010cby.1_Missense_Mutation_p.R34W	p.R34W	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN			3	164	-		all_cancers(37;0.0973)	34					A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.100C>T	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273020	0.40194	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.77750	-0.91;-1.12	5.67	2.2	0.27929	.	0.461453	0.23672	N	0.045714	T	0.62183	0.2407	N	0.19112	0.55	0.31325	N	0.685555	B;B;B;B	0.23490	0.05;0.086;0.05;0.069	B;B;B;B	0.16289	0.007;0.007;0.004;0.015	T	0.63225	-0.6685	10	0.51188	T	0.08	-1.0741	11.962	0.53013	0.2216:0.0:0.7784:0.0	.	34;34;34;34	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	W	34	ENSP00000369257:R34W;ENSP00000262135:R34W	ENSP00000262135:R34W	R	-	1	2	RPGRIP1L	52287694	0.987000	0.35691	0.884000	0.34674	0.994000	0.84299	2.559000	0.45888	0.752000	0.32923	0.563000	0.77884	CGG		0.373	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		65	230	0	0	0	0	65	230				
CNOT1	23019	broad.mit.edu	37	16	58608533	58608533	+	Silent	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:58608533G>C	ENST00000317147.5	-	16	2291	c.1959C>G	c.(1957-1959)gcC>gcG	p.A653A	CNOT1_ENST00000441024.2_Silent_p.A653A|CNOT1_ENST00000569240.1_Silent_p.A653A	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	653					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTTGCAGACAGGCCAACATTG	0.423																																						uc002env.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(1957-1959)GCC>GCG		CCR4-NOT transcription complex, subunit 1							117.0	105.0	109.0					16																	58608533		2198	4300	6498	SO:0001819	synonymous_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58608533G>C	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1959C>G	16.37:g.58608533G>C						CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.A653A|CNOT1_uc002enx.2_Silent_p.A653A|CNOT1_uc002enz.1_Silent_p.A82A	p.A653A	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	16	2252	-			653					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	c.1959C>G	CCDS10799.1																																																																																				0.423	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		32	105	0	0	0	0	32	105				
FUK	197258	broad.mit.edu	37	16	70513582	70513582	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:70513582G>A	ENST00000288078.6	+	24	3486	c.3254G>A	c.(3253-3255)tGa>tAa	p.*1085*	FUK_ENST00000571514.1_Silent_p.*576*|FUK_ENST00000378912.2_Silent_p.*1091*	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	0						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCTTTCCCATGAAGCTGGCTT	0.592																																						uc002eyy.2		NA																	0				ovary(1)	1						c.(3253-3255)TGA>TAA		fucokinase							61.0	69.0	66.0					16																	70513582		2003	4172	6175	SO:0001819	synonymous_variant	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70513582G>A		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.3254G>A	16.37:g.70513582G>A						FUK_uc010cft.2_Silent_p.*1091*|FUK_uc002eyz.2_Silent_p.*576*	p.*1085*	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN			24	3312	+		Ovarian(137;0.0694)	1085					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	c.3254G>A	CCDS10891.2																																																																																				0.592	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		13	45	0	0	0	0	13	45				
SLC35G6	643664	broad.mit.edu	37	17	7386198	7386198	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:7386198T>A	ENST00000412468.2	+	2	1010	c.895T>A	c.(895-897)Tat>Aat	p.Y299N	POLR2A_ENST00000322644.6_5'Flank|POLR2A_ENST00000572844.1_5'Flank|ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	299	EamA 2.					integral component of membrane (GO:0016021)											ACTGCAGTATTATATGCTCCA	0.577																																						uc010cmj.1		NA																	0					0						c.(895-897)TAT>AAT		acyl-malonyl condensing enzyme 1-like 3							175.0	163.0	167.0					17																	7386198		2203	4300	6503	SO:0001583	missense	643664					integral to membrane		g.chr17:7386198T>A		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"""Solute carriers"""	31351	protein-coding gene	gene with protein product			"""transmembrane protein 21B"", ""acyl-malonyl condensing enzyme 1-like 3"""	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.895T>A	17.37:g.7386198T>A	ENSP00000396523:p.Tyr299Asn					ZBTB4_uc002ghd.3_Intron|POLR2A_uc002ghe.2_5'Flank|POLR2A_uc002ghf.3_5'Flank	p.Y299N	NM_001102614	NP_001096084	P0C7Q6	AMCL3_HUMAN			2	1010	+		Prostate(122;0.173)	299			DUF6 2.|Helical; (Potential).			Missense_Mutation	SNP	ENST00000412468.2	37	c.895T>A	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	T	5.455	0.269121	0.10349	.	.	ENSG00000181222	ENST00000412468	T	0.52295	0.67	4.38	4.38	0.52667	.	.	.	.	.	T	0.29620	0.0739	N	0.14661	0.345	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.10941	-1.0608	9	0.42905	T	0.14	-4.1708	7.8045	0.29193	0.0:0.0972:0.0:0.9028	.	299	P0C7Q6	S35G6_HUMAN	N	299	ENSP00000396523:Y299N	ENSP00000396523:Y299N	Y	+	1	0	SLC35G6	7326922	0.347000	0.24853	0.895000	0.35142	0.151000	0.21798	1.647000	0.37260	1.756000	0.51951	0.482000	0.46254	TAT		0.577	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		55	170	0	0	0	0	55	170				
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R282W	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)CGG>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	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	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	53	0	0	0	0	19	53				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	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		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)CGC>CAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	p.R175H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	71	0	0	0	0	25	71				
ALOX12B	242	broad.mit.edu	37	17	7983140	7983140	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:7983140C>T	ENST00000319144.4	-	7	1134	c.874G>A	c.(874-876)Gac>Aac	p.D292N	AC129492.6_ENST00000399413.3_5'UTR|ALOX12B_ENST00000577351.1_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	292	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GCCACCATGTCGTCTGTGACG	0.677										Multiple Myeloma(8;0.094)																												uc002gjy.1		NA																	0					0						c.(874-876)GAC>AAC		arachidonate 12-lipoxygenase, 12R type							39.0	36.0	37.0					17																	7983140		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7983140C>T	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.874G>A	17.37:g.7983140C>T	ENSP00000315167:p.Asp292Asn	Multiple Myeloma(8;0.094)				uc010cnq.1_RNA	p.D292N	NM_001139	NP_001130	O75342	LX12B_HUMAN			7	1135	-			292			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.874G>A	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908866	0.52439	.	.	ENSG00000179477	ENST00000319144	T	0.78003	-1.14	4.25	2.22	0.28083	Lipoxygenase, C-terminal (3);	0.981185	0.08375	N	0.955418	T	0.69360	0.3102	L	0.41824	1.3	0.24107	N	0.99586	B	0.22276	0.067	B	0.24701	0.055	T	0.56733	-0.7930	10	0.38643	T	0.18	-8.0521	7.9838	0.30198	0.1595:0.7531:0.0:0.0874	.	292	O75342	LX12B_HUMAN	N	292	ENSP00000315167:D292N	ENSP00000315167:D292N	D	-	1	0	ALOX12B	7923865	0.340000	0.24792	0.886000	0.34754	0.865000	0.49528	2.955000	0.49121	0.555000	0.29079	-1.130000	0.01982	GAC		0.677	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			13	35	0	0	0	0	13	35				
ALOX12B	242	broad.mit.edu	37	17	7983186	7983186	+	Silent	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:7983186C>G	ENST00000319144.4	-	7	1088	c.828G>C	c.(826-828)ctG>ctC	p.L276L	AC129492.6_ENST00000399413.3_5'UTR|ALOX12B_ENST00000577351.1_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	276	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGCGGCGGATCAGGCCGGGGT	0.652										Multiple Myeloma(8;0.094)																												uc002gjy.1		NA																	0					0						c.(826-828)CTG>CTC		arachidonate 12-lipoxygenase, 12R type							34.0	33.0	33.0					17																	7983186		2203	4300	6503	SO:0001819	synonymous_variant	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7983186C>G	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.828G>C	17.37:g.7983186C>G		Multiple Myeloma(8;0.094)				uc010cnq.1_RNA	p.L276L	NM_001139	NP_001130	O75342	LX12B_HUMAN			7	1089	-			276			Lipoxygenase.			Silent	SNP	ENST00000319144.4	37	c.828G>C	CCDS11129.1																																																																																				0.652	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			7	35	0	0	0	0	7	35				
DNAH9	1770	broad.mit.edu	37	17	11738200	11738200	+	Silent	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:11738200C>G	ENST00000262442.4	+	49	9560	c.9492C>G	c.(9490-9492)ctC>ctG	p.L3164L	DNAH9_ENST00000454412.2_Silent_p.L3164L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3164	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGCAGCTCTCAACACCCTGA	0.572																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(9490-9492)CTC>CTG		dynein, axonemal, heavy chain 9 isoform 2							109.0	79.0	89.0					17																	11738200		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11738200C>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9492C>G	17.37:g.11738200C>G						DNAH9_uc010coo.2_Silent_p.L2458L	p.L3164L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	49	9560	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3164			Stalk (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.9492C>G	CCDS11160.1																																																																																				0.572	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	31	0	0	0	0	4	31				
NSRP1	84081	broad.mit.edu	37	17	28512309	28512309	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:28512309G>A	ENST00000247026.5	+	7	1357	c.1294G>A	c.(1294-1296)Gat>Aat	p.D432N	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	432					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						tgaaaataatgataaatacag	0.378																																						uc002heu.2		NA																	0					0						c.(1294-1296)GAT>AAT		coiled-coil domain containing 55 isoform 1							51.0	49.0	50.0					17																	28512309		2203	4300	6503	SO:0001583	missense	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28512309G>A	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.1294G>A	17.37:g.28512309G>A	ENSP00000247026:p.Asp432Asn					CCDC55_uc002hev.2_Missense_Mutation_p.D378N|CCDC55_uc010wbl.1_Missense_Mutation_p.D378N|CCDC55_uc010wbm.1_Missense_Mutation_p.D378N|CCDC55_uc002hex.2_Missense_Mutation_p.D378N	p.D432N	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN			7	1322	+			432					Q6FI71	Missense_Mutation	SNP	ENST00000247026.5	37	c.1294G>A	CCDS11255.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910235	0.52439	.	.	ENSG00000126653	ENST00000247026;ENST00000540900	T	0.47528	0.84	5.26	4.29	0.51040	.	0.494166	0.22101	N	0.064606	T	0.40423	0.1116	L	0.47716	1.5	0.80722	D	1	B	0.15473	0.013	B	0.12837	0.008	T	0.22977	-1.0201	10	0.31617	T	0.26	-4.3773	11.9535	0.52968	0.0814:0.0:0.9186:0.0	.	432	Q9H0G5	NSRP1_HUMAN	N	432;363	ENSP00000247026:D432N	ENSP00000247026:D432N	D	+	1	0	NSRP1	25536435	1.000000	0.71417	0.867000	0.34043	0.995000	0.86356	4.649000	0.61433	1.551000	0.49450	0.644000	0.83932	GAT		0.378	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		10	34	0	0	0	0	10	34				
NAGLU	4669	broad.mit.edu	37	17	40689478	40689478	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:40689478G>A	ENST00000225927.2	+	2	547	c.446G>A	c.(445-447)cGc>cAc	p.R149H	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	149					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GACTGGGCCCGCTGGGAGCGA	0.627																																						uc002hzv.2		NA																	0					0						c.(445-447)CGC>CAC		alpha-N-acetylglucosaminidase precursor	N-Acetyl-D-glucosamine(DB00141)						134.0	118.0	124.0					17																	40689478		2203	4300	6503	SO:0001583	missense	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40689478G>A		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.446G>A	17.37:g.40689478G>A	ENSP00000225927:p.Arg149His						p.R149H	NM_000263	NP_000254	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	2	786	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	149						Missense_Mutation	SNP	ENST00000225927.2	37	c.446G>A	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901269	0.92035	.	.	ENSG00000108784	ENST00000225927	D	0.98987	-5.3	4.3	3.33	0.38152	Alpha-N-acetylglucosaminidase, tim-barrel domain (1);	0.000000	0.85682	D	0.000000	D	0.99345	0.9770	M	0.93375	3.41	0.49483	D	0.999795	D	0.89917	1.0	D	0.74348	0.983	D	0.99078	1.0836	10	0.87932	D	0	-20.5556	11.4866	0.50356	0.09:0.0:0.91:0.0	.	149	P54802	ANAG_HUMAN	H	149	ENSP00000225927:R149H	ENSP00000225927:R149H	R	+	2	0	NAGLU	37943004	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.396000	0.73234	1.142000	0.42291	-0.254000	0.11334	CGC		0.627	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		4	133	0	0	0	0	4	133				
EFCAB13	124989	broad.mit.edu	37	17	45422422	45422422	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:45422422G>A	ENST00000331493.2	+	8	886	c.475G>A	c.(475-477)Gat>Aat	p.D159N	EFCAB13_ENST00000517484.1_Missense_Mutation_p.D159N	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	159						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										GACATTATATGATGAAGTAAC	0.313																																						uc002iln.2		NA																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(475-477)GAT>AAT		hypothetical protein LOC124989							102.0	110.0	107.0					17																	45422422		2203	4298	6501	SO:0001583	missense	124989						calcium ion binding	g.chr17:45422422G>A	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.475G>A	17.37:g.45422422G>A	ENSP00000332111:p.Asp159Asn					C17orf57_uc002ilm.2_Missense_Mutation_p.D159N|C17orf57_uc002ill.1_Missense_Mutation_p.D11N|C17orf57_uc010daz.1_Missense_Mutation_p.D159N	p.D159N	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN			8	886	+			159					G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.475G>A	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053390	0.36181	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.67698	0.03;-0.28	4.05	1.92	0.25849	.	0.598725	0.14948	N	0.289062	T	0.52773	0.1755	L	0.40543	1.245	0.19775	N	0.999959	B;B;B	0.17852	0.006;0.024;0.006	B;B;B	0.14578	0.007;0.011;0.007	T	0.50162	-0.8860	10	0.87932	D	0	-15.1433	5.4759	0.16695	0.2789:0.0:0.7211:0.0	.	159;159;159	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	N	159	ENSP00000332111:D159N;ENSP00000430048:D159N	ENSP00000332111:D159N	D	+	1	0	C17orf57	42777421	0.984000	0.35163	0.626000	0.29213	0.129000	0.20672	1.020000	0.30027	0.744000	0.32741	0.484000	0.47621	GAT		0.313	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		48	175	0	0	0	0	48	175				
COX11	1353	broad.mit.edu	37	17	53040725	53040725	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:53040725C>G	ENST00000299335.3	-	3	728	c.590G>C	c.(589-591)gGa>gCa	p.G197A	COX11_ENST00000571584.1_Missense_Mutation_p.G197A|COX11_ENST00000573912.1_5'Flank	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	197					hydrogen ion transmembrane transport (GO:1902600)|negative regulation of glucokinase activity (GO:0033132)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						TGTAGAAATTCCAATTACTGG	0.323																																						uc010wng.1		NA																	0				ovary(1)	1						c.(589-591)GGA>GCA		COX11 homolog, cytochrome c oxidase assembly							67.0	69.0	69.0					17																	53040725		2203	4299	6502	SO:0001583	missense	1353				respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity	g.chr17:53040725C>G	AF044321	CCDS11583.1, CCDS58579.1	17q22	2012-10-15	2012-10-15			ENSG00000166260		"""Mitochondrial respiratory chain complex assembly factors"""	2261	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit 11"", ""cytochrome c oxidase assembly protein COX11"""	603648	"""COX11 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX11 cytochrome c oxidase assembly homolog (yeast)"""			9878253	Standard	NM_004375		Approved	COX11P	uc010wng.1	Q9Y6N1		ENST00000299335.3:c.590G>C	17.37:g.53040725C>G	ENSP00000299335:p.Gly197Ala					COX11_uc010wne.1_RNA|COX11_uc010wnf.1_RNA|COX11_uc002iue.2_RNA|COX11_uc010wnh.1_Missense_Mutation_p.G197A	p.G197A	NM_004375	NP_004366	Q9Y6N1	COX11_HUMAN			3	647	-			197			Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential).		D3DTY5|I3L220|Q6FHB7|Q9BRX0|Q9UME8	Missense_Mutation	SNP	ENST00000299335.3	37	c.590G>C	CCDS11583.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650965	0.67472	.	.	ENSG00000166260	ENST00000299335	T	0.61158	0.13	5.23	4.22	0.49857	Cytochrome c oxidase assembly protein CtaG/Cox11, domain (2);	0.000000	0.85682	D	0.000000	T	0.73079	0.3541	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75836	-0.3177	10	0.87932	D	0	5.2489	14.4975	0.67700	0.1466:0.8534:0.0:0.0	.	197;197	B4DI26;Q9Y6N1	.;COX11_HUMAN	A	197	ENSP00000299335:G197A	ENSP00000299335:G197A	G	-	2	0	COX11	50395724	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.836000	0.69375	2.719000	0.93026	0.650000	0.86243	GGA		0.323	COX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439182.1	NM_004375		26	94	0	0	0	0	26	94				
KCNJ2	3759	broad.mit.edu	37	17	68171901	68171901	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:68171901G>A	ENST00000243457.3	+	2	1104	c.721G>A	c.(721-723)Gag>Aag	p.E241K	KCNJ2_ENST00000535240.1_Missense_Mutation_p.E241K	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	241					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TTCTGAAGGGGAGTATATCCC	0.448																																						uc010dfg.2		NA																	0					0						c.(721-723)GAG>AAG		potassium inwardly-rectifying channel J2							96.0	97.0	96.0					17																	68171901		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171901G>A	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.721G>A	17.37:g.68171901G>A	ENSP00000243457:p.Glu241Lys					KCNJ2_uc002jir.2_Missense_Mutation_p.E241K	p.E241K	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	1122	+	Breast(10;1.64e-08)		241			Cytoplasmic (By similarity).		O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.721G>A	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767918	0.69878	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.96427	-4.01;-4.01	5.86	4.89	0.63831	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98526	0.9508	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99032	1.0821	9	.	.	.	.	15.4016	0.74845	0.0677:0.0:0.9323:0.0	.	241	P63252	IRK2_HUMAN	K	241	ENSP00000441848:E241K;ENSP00000243457:E241K	.	E	+	1	0	KCNJ2	65683496	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	9.869000	0.99810	2.776000	0.95493	0.655000	0.94253	GAG		0.448	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		33	87	0	0	0	0	33	87				
EXOC7	23265	broad.mit.edu	37	17	74085376	74085376	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:74085376C>T	ENST00000335146.7	-	9	1133	c.1080G>A	c.(1078-1080)gaG>gaA	p.E360E	EXOC7_ENST00000332065.5_Silent_p.E278E|EXOC7_ENST00000607838.1_Silent_p.E332E|EXOC7_ENST00000411744.2_Silent_p.E301E|EXOC7_ENST00000467929.2_Silent_p.E268E|EXOC7_ENST00000405575.4_Silent_p.E332E|EXOC7_ENST00000589210.1_Silent_p.E309E			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	360					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			AGGCATCGGTCTCCACGTCCA	0.637																																						uc002jqs.2		NA																	0					0						c.(1078-1080)GAG>GAA		exocyst complex component 7 isoform 4							106.0	90.0	95.0					17																	74085376		2203	4300	6503	SO:0001819	synonymous_variant	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74085376C>T	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.1080G>A	17.37:g.74085376C>T						EXOC7_uc010dgv.1_Silent_p.E256E|EXOC7_uc002jqq.2_Silent_p.E309E|EXOC7_uc010wsw.1_Silent_p.E332E|EXOC7_uc010wsx.1_Silent_p.E301E|EXOC7_uc002jqr.2_Silent_p.E278E|EXOC7_uc010wsv.1_Silent_p.E268E	p.E360E	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		9	1175	-			360					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Silent	SNP	ENST00000335146.7	37	c.1080G>A	CCDS45782.1																																																																																				0.637	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		18	45	0	0	0	0	18	45				
RPTOR	57521	broad.mit.edu	37	17	78681774	78681774	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:78681774A>G	ENST00000306801.3	+	4	844	c.482A>G	c.(481-483)aAc>aGc	p.N161S	RPTOR_ENST00000544334.2_Missense_Mutation_p.N161S|RPTOR_ENST00000570891.1_Missense_Mutation_p.N161S|RPTOR_ENST00000537330.1_5'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	161					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCCACAGTCAACGGGGAGGTC	0.592																																						uc002jyt.1		NA																	0				lung(4)|urinary_tract(1)|ovary(1)	6						c.(481-483)AAC>AGC		raptor isoform 1							53.0	51.0	51.0					17																	78681774		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78681774A>G		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.482A>G	17.37:g.78681774A>G	ENSP00000307272:p.Asn161Ser					RPTOR_uc002jys.2_Missense_Mutation_p.N161S|RPTOR_uc010wuf.1_5'UTR|RPTOR_uc010wug.1_Missense_Mutation_p.N161S	p.N161S	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN			4	1287	+			161					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.482A>G	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.729047	0.48833	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.43294	0.95;0.98	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	L	0.50993	1.605	0.80722	D	1	D;D	0.56035	0.974;0.968	D;P	0.70487	0.969;0.779	T	0.50792	-0.8786	10	0.23302	T	0.38	.	15.264	0.73646	1.0:0.0:0.0:0.0	.	161;161	F5H7J5;Q8N122	.;RPTOR_HUMAN	S	161	ENSP00000307272:N161S;ENSP00000442479:N161S	ENSP00000307272:N161S	N	+	2	0	RPTOR	76296369	1.000000	0.71417	0.936000	0.37596	0.905000	0.53344	9.193000	0.94954	2.011000	0.59026	0.533000	0.62120	AAC		0.592	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		11	28	0	0	0	0	11	28				
GAREM	64762	broad.mit.edu	37	18	29867529	29867529	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr18:29867529C>A	ENST00000269209.6	-	4	1034	c.1031G>T	c.(1030-1032)cGt>cTt	p.R344L	GAREM_ENST00000578619.1_5'Flank|RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000399218.4_Missense_Mutation_p.R344L			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	344					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										TTTCACATCACGGACAGCCCG	0.562																																						uc002kxl.2		NA																	0				ovary(1)|skin(1)	2						c.(1030-1032)CGT>CTT		family with sequence similarity 59, member A							92.0	94.0	93.0					18																	29867529		2203	4300	6503	SO:0001583	missense	64762							g.chr18:29867529C>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1031G>T	18.37:g.29867529C>A	ENSP00000269209:p.Arg344Leu					FAM59A_uc002kxk.1_Missense_Mutation_p.R344L	p.R344L	NM_022751	NP_073588	Q9H706	FA59A_HUMAN			4	1087	-			344					Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	c.1031G>T	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470899	0.63625	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.36699	1.24;1.24	5.55	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.52354	0.1729	L	0.42245	1.32	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	T	0.55995	-0.8052	10	0.87932	D	0	-15.1039	14.7468	0.69494	0.0:0.9299:0.0:0.0701	.	344;344	Q9H706;Q9H706-3	FA59A_HUMAN;.	L	344	ENSP00000382165:R344L;ENSP00000269209:R344L	ENSP00000269209:R344L	R	-	2	0	FAM59A	28121527	1.000000	0.71417	0.984000	0.44739	0.452000	0.32318	7.398000	0.79919	1.488000	0.48433	-0.258000	0.10820	CGT		0.562	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		33	67	1	0	4.34e-12	4.79e-12	33	67				
MYO5B	4645	broad.mit.edu	37	18	47563335	47563335	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr18:47563335C>T	ENST00000285039.7	-	4	639	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	114	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGCAACTGTTCATAAGGATTA	0.468																																						uc002leb.2		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(340-342)GAA>AAA		myosin VB							129.0	121.0	124.0					18																	47563335		2017	4184	6201	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47563335C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.340G>A	18.37:g.47563335C>T	ENSP00000285039:p.Glu114Lys					MYO5B_uc002lec.1_Missense_Mutation_p.E113K	p.E114K	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	4	628	-			114			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.340G>A	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064461	0.55432	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.86366	-2.11	5.52	5.52	0.82312	Myosin head, motor domain (3);	0.052636	0.64402	D	0.000001	T	0.65698	0.2716	N	0.01197	-0.965	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.14023	0.01;0.002	T	0.66031	-0.6024	10	0.06099	T	0.92	.	14.0493	0.64725	0.0:0.8489:0.1511:0.0	.	113;114	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	K	114;113	ENSP00000285039:E114K	ENSP00000285039:E114K	E	-	1	0	MYO5B	45817333	0.999000	0.42202	0.978000	0.43139	0.999000	0.98932	3.994000	0.56994	2.752000	0.94435	0.655000	0.94253	GAA		0.468	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			17	40	0	0	0	0	17	40				
POLRMT	5442	broad.mit.edu	37	19	618526	618526	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:618526G>T	ENST00000588649.2	-	17	3468	c.3384C>A	c.(3382-3384)gaC>gaA	p.D1128E	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1128	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGGGAGGAGTCCAGCGAGT	0.662																																						uc002lpf.1		NA																	0				ovary(1)|pancreas(1)	2						c.(3382-3384)GAC>GAA		mitochondrial DNA-directed RNA polymerase							178.0	117.0	138.0					19																	618526		2201	4298	6499	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:618526G>T		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.3384C>A	19.37:g.618526G>T	ENSP00000465759:p.Asp1128Glu						p.D1128E	NM_005035	NP_005026	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	17	3440	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	1128			Mediates interaction with TEFM.		O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.3384C>A	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	15.53	2.859959	0.51482	.	.	ENSG00000099821	ENST00000215591	D	0.94000	-3.33	4.64	-0.57	0.11753	.	0.000000	0.85682	D	0.000000	D	0.96984	0.9015	H	0.97635	4.045	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.94088	0.7350	10	0.87932	D	0	-47.2599	5.5363	0.17013	0.2371:0.0:0.6263:0.1367	.	1128	O00411	RPOM_HUMAN	E	1128	ENSP00000215591:D1128E	ENSP00000215591:D1128E	D	-	3	2	POLRMT	569526	1.000000	0.71417	0.972000	0.41901	0.142000	0.21351	3.893000	0.56243	0.049000	0.15920	0.313000	0.20887	GAC		0.662	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		11	30	1	0	6.4e-05	6.78e-05	11	30				
TUBB4A	10382	broad.mit.edu	37	19	6501305	6501305	+	Missense_Mutation	SNP	G	G	C	rs369521667		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:6501305G>C	ENST00000264071.2	-	3	641	c.270C>G	c.(268-270)ttC>ttG	p.F90L	TUBB4A_ENST00000598006.1_Missense_Mutation_p.S76W|TUBB4A_ENST00000596926.1_Missense_Mutation_p.F90L|TUBB4A_ENST00000540257.1_Missense_Mutation_p.F90L|TUBB4A_ENST00000601152.1_Missense_Mutation_p.S65W			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	90					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CACCAAACACGAAGTTGTCCG	0.592																																						uc002mfg.1		NA																	0				ovary(2)	2						c.(268-270)TTC>TTG		tubulin, beta 4							43.0	39.0	41.0					19																	6501305		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6501305G>C	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.270C>G	19.37:g.6501305G>C	ENSP00000264071:p.Phe90Leu					TUBB4_uc002mff.1_Missense_Mutation_p.F18L	p.F90L	NM_006087	NP_006078	P04350	TBB4_HUMAN		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	3	377	-		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	90					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.270C>G	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	5.745	0.321877	0.10845	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	T;T	0.67345	-0.26;-0.26	3.82	-1.22	0.09494	.	0.000000	0.64402	U	0.000001	T	0.54711	0.1875	L	0.45352	1.415	0.43047	D	0.994648	B	0.15141	0.012	B	0.23419	0.046	T	0.35847	-0.9772	10	0.87932	D	0	.	9.3304	0.38018	0.6543:0.0:0.3457:0.0	.	90	P04350	TBB4A_HUMAN	L	90	ENSP00000264071:F90L;ENSP00000443590:F90L	ENSP00000264071:F90L	F	-	3	2	TUBB4	6452305	0.989000	0.36119	0.981000	0.43875	0.216000	0.24613	0.501000	0.22578	-0.843000	0.04189	-0.693000	0.03709	TTC		0.592	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		11	57	0	0	0	0	11	57				
MUC16	94025	broad.mit.edu	37	19	9056712	9056712	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:9056712G>A	ENST00000397910.4	-	3	30937	c.30734C>T	c.(30733-30735)tCc>tTc	p.S10245F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10247	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTGGGAAGGAGGTTATCCC	0.463																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(30733-30735)TCC>TTC		mucin 16							73.0	73.0	73.0					19																	9056712		1920	4123	6043	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056712G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30734C>T	19.37:g.9056712G>A	ENSP00000381008:p.Ser10245Phe						p.S10245F	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	30938	-			10247			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.30734C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.664	0.685496	0.14973	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	3.24	3.24	0.37175	.	.	.	.	.	T	0.05135	0.0137	N	0.08118	0	.	.	.	D	0.76494	0.999	D	0.83275	0.996	T	0.45716	-0.9242	8	0.87932	D	0	.	10.2371	0.43290	0.0:0.0:1.0:0.0	.	10245	B5ME49	.	F	10245	ENSP00000381008:S10245F	ENSP00000381008:S10245F	S	-	2	0	MUC16	8917712	0.000000	0.05858	0.014000	0.15608	0.075000	0.17131	0.204000	0.17335	2.108000	0.64289	0.467000	0.42956	TCC		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		24	62	0	0	0	0	24	62				
CCDC151	115948	broad.mit.edu	37	19	11545748	11545748	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:11545748C>T	ENST00000356392.4	-	1	177	c.90G>A	c.(88-90)agG>agA	p.R30R	PRKCSH_ENST00000591462.1_5'Flank|PRKCSH_ENST00000592741.1_5'Flank|PRKCSH_ENST00000587327.1_5'Flank|PRKCSH_ENST00000412601.1_5'Flank|PRKCSH_ENST00000589838.1_5'Flank|CCDC151_ENST00000591179.1_Silent_p.R30R|CCDC151_ENST00000586836.1_Intron|PRKCSH_ENST00000252455.2_5'Flank|CCDC151_ENST00000545100.1_Intron	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	30										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CCGAAGCCTCCCTGCCCTTGA	0.667											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mrs.2		NA																	0				ovary(1)	1						c.(88-90)AGG>AGA		coiled-coil domain containing 151							50.0	55.0	53.0					19																	11545748		1990	4150	6140	SO:0001819	synonymous_variant	115948							g.chr19:11545748C>T		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.90G>A	19.37:g.11545748C>T			OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	673	CCDC151_uc010dxz.2_Silent_p.R30R|PRKCSH_uc002mrt.2_5'Flank|PRKCSH_uc002mru.2_5'Flank|PRKCSH_uc010xlz.1_5'Flank|PRKCSH_uc010dya.2_5'Flank|PRKCSH_uc002mrv.1_5'Flank|PRKCSH_uc010dyb.2_5'Flank	p.R30R	NM_145045	NP_659482	A5D8V7	CC151_HUMAN			1	233	-			30					B4DXT0|Q96CG5	Silent	SNP	ENST00000356392.4	37	c.90G>A	CCDS42501.1																																																																																				0.667	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		25	97	0	0	0	0	25	97				
CLASRP	11129	broad.mit.edu	37	19	45561076	45561076	+	Missense_Mutation	SNP	C	C	T	rs553509118		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:45561076C>T	ENST00000221455.3	+	7	631	c.533C>T	c.(532-534)gCg>gTg	p.A178V	CLASRP_ENST00000544944.2_Missense_Mutation_p.A178V|CLASRP_ENST00000391953.4_Missense_Mutation_p.A116V	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	178					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GTAGAGAAGGCGGCAGAAAAG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		19725	0.0		0.0	False		,,,				2504	0.001					uc002pak.2		NA																	0					0						c.(532-534)GCG>GTG		splicing factor, arginine/serine-rich 16							164.0	122.0	136.0					19																	45561076		2203	4300	6503	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45561076C>T	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.533C>T	19.37:g.45561076C>T	ENSP00000221455:p.Ala178Val					SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Missense_Mutation_p.A116V|SFRS16_uc002pam.2_Missense_Mutation_p.A178V|SFRS16_uc002pan.1_RNA	p.A178V	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	7	631	+		Ovarian(192;0.0728)|all_neural(266;0.112)	178					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.533C>T	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	C	2.843	-0.240007	0.05944	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.48836	1.42;1.41;0.8;1.42	4.95	-2.45	0.06481	.	0.513425	0.14342	N	0.325647	T	0.23370	0.0565	N	0.14661	0.345	0.09310	N	0.999999	B;B;B	0.33494	0.414;0.414;0.206	B;B;B	0.21151	0.033;0.031;0.02	T	0.07849	-1.0751	10	0.25106	T	0.35	-5.8528	12.7783	0.57461	0.0:0.6914:0.0:0.3086	.	116;178;178	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	V	178;178;116;178	ENSP00000221455:A178V;ENSP00000375814:A178V;ENSP00000375815:A116V;ENSP00000438702:A178V	ENSP00000221455:A178V	A	+	2	0	CLASRP	50252916	0.000000	0.05858	0.030000	0.17652	0.333000	0.28666	-0.550000	0.06034	-0.436000	0.07254	-0.484000	0.04775	GCG		0.612	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		27	131	0	0	0	0	27	131				
SLC8A2	6543	broad.mit.edu	37	19	47935484	47935484	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:47935484C>T	ENST00000236877.6	-	9	2724	c.2329G>A	c.(2329-2331)Gtt>Att	p.V777I	SLC8A2_ENST00000539381.1_Missense_Mutation_p.V240I|SLC8A2_ENST00000542837.1_Missense_Mutation_p.V533I|SLC8A2_ENST00000601757.1_5'Flank	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	777					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TTGAGGCCAACGGTGCAGCCG	0.607																																						uc002pgx.2		NA																	0				skin(3)|ovary(1)	4						c.(2329-2331)GTT>ATT		solute carrier family 8 member 2 precursor							98.0	83.0	88.0					19																	47935484		2203	4300	6503	SO:0001583	missense	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935484C>T	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2329G>A	19.37:g.47935484C>T	ENSP00000236877:p.Val777Ile					SLC8A2_uc010xyq.1_Missense_Mutation_p.V533I|SLC8A2_uc010xyr.1_Missense_Mutation_p.V240I|SLC8A2_uc010ele.2_Missense_Mutation_p.V777I	p.V777I	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2607	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	777			Helical; (Potential).		B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	c.2329G>A	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	C	8.755	0.922209	0.17982	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000539381;ENST00000542837	T;T;T	0.62788	-0.0;-0.0;-0.0	4.05	3.01	0.34805	Sodium/calcium exchanger membrane region (1);	0.092799	0.41396	D	0.000886	T	0.31702	0.0805	N	0.13043	0.29	0.50813	D	0.999899	P;P	0.41784	0.605;0.762	B;B	0.30179	0.033;0.112	T	0.43458	-0.9390	10	0.02654	T	1	.	10.6048	0.45388	0.0:0.9029:0.0:0.0971	.	605;777	E9PGS7;Q9UPR5	.;NAC2_HUMAN	I	605;777;240;533	ENSP00000236877:V777I;ENSP00000440588:V240I;ENSP00000437536:V533I	ENSP00000236877:V777I	V	-	1	0	SLC8A2	52627296	0.300000	0.24435	1.000000	0.80357	0.995000	0.86356	0.905000	0.28504	1.063000	0.40649	0.558000	0.71614	GTT		0.607	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			14	89	0	0	0	0	14	89				
CCDC114	93233	broad.mit.edu	37	19	48801464	48801464	+	Silent	SNP	G	G	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:48801464G>T	ENST00000315396.7	-	11	1945	c.1263C>A	c.(1261-1263)ctC>ctA	p.L421L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	421					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GCACTGTCAGGAGCTCCACCA	0.652																																						uc002pir.2		NA																	0				ovary(1)	1						c.(1261-1263)CTC>CTA		coiled-coil domain containing 114 isoform 2							54.0	55.0	55.0					19																	48801464		2203	4300	6503	SO:0001819	synonymous_variant	93233							g.chr19:48801464G>T	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1263C>A	19.37:g.48801464G>T						CCDC114_uc002piq.2_Silent_p.L230L|CCDC114_uc002pio.2_Silent_p.L458L|CCDC114_uc002pis.1_Silent_p.L101L|CCDC114_uc002pit.1_Silent_p.L458L	p.L421L	NM_144577	NP_653178	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	11	1946	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	421					Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	c.1263C>A	CCDS12714.2																																																																																				0.652	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		13	63	1	0	5.51e-06	5.84e-06	13	63				
HAS1	3036	broad.mit.edu	37	19	52216936	52216936	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:52216936C>T	ENST00000222115.1	-	5	1515	c.1481G>A	c.(1480-1482)cGg>cAg	p.R494Q	HAS1_ENST00000601714.1_Missense_Mutation_p.R501Q|HAS1_ENST00000540069.2_Missense_Mutation_p.R493Q	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	494					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGCCAGCTTCCGCCGGCCCGA	0.687																																					NSCLC(132;636 2450 45807 47979)	uc002pxo.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1480-1482)CGG>CAG		hyaluronan synthase 1							6.0	6.0	6.0					19																	52216936		1983	3948	5931	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52216936C>T	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1481G>A	19.37:g.52216936C>T	ENSP00000222115:p.Arg494Gln					HAS1_uc010epc.1_Missense_Mutation_p.R94Q|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxn.1_Missense_Mutation_p.R501Q|HAS1_uc002pxp.1_Missense_Mutation_p.R493Q	p.R494Q	NM_001523	NP_001514	Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1516	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	494			Extracellular (Potential).		Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.1481G>A	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	c	18.15	3.560782	0.65538	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.30981	1.51;1.51	3.31	2.25	0.28309	.	0.154565	0.44285	U	0.000467	T	0.30135	0.0755	L	0.34521	1.04	0.31824	N	0.625635	D;D;D	0.60575	0.988;0.98;0.98	P;P;P	0.55161	0.77;0.594;0.594	T	0.30621	-0.9972	10	0.56958	D	0.05	-15.5069	5.0652	0.14578	0.0:0.7084:0.0:0.2916	.	493;494;493	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	Q	493;494	ENSP00000445021:R493Q;ENSP00000222115:R494Q	ENSP00000222115:R494Q	R	-	2	0	HAS1	56908748	0.000000	0.05858	0.141000	0.22245	0.755000	0.42902	0.675000	0.25232	0.699000	0.31761	0.174000	0.16983	CGG		0.687	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		5	4	0	0	0	0	5	4				
PPP2R1A	5518	broad.mit.edu	37	19	52709301	52709301	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:52709301C>T	ENST00000322088.6	+	3	313	c.255C>T	c.(253-255)taC>taT	p.Y85Y	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000444322.2_Intron	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	85	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GCCCAGAGTACGTGCACTGCC	0.612			Mis		clear cell ovarian carcinoma																																	uc002pyp.2		NA		Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(253-255)TAC>TAT		alpha isoform of regulatory subunit A, protein							134.0	109.0	117.0					19																	52709301		2203	4300	6503	SO:0001819	synonymous_variant	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52709301C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.255C>T	19.37:g.52709301C>T						PPP2R1A_uc010ydk.1_Intron|PPP2R1A_uc010epm.1_Silent_p.Y125Y|PPP2R1A_uc002pyq.2_Translation_Start_Site	p.Y85Y	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	3	414	+			85			PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 3.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Silent	SNP	ENST00000322088.6	37	c.255C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	6.368	0.435998	0.12104	.	.	ENSG00000105568	ENST00000391791	.	.	.	3.23	-6.46	0.01908	.	.	.	.	.	T	0.68952	0.3057	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75354	-0.3347	5	0.72032	D	0.01	-9.0111	14.74	0.69445	0.0:0.1648:0.0:0.8352	.	.	.	.	M	64	.	ENSP00000375668:T64M	T	+	2	0	PPP2R1A	57401113	0.999000	0.42202	0.445000	0.26908	0.349000	0.29174	0.412000	0.21131	-1.757000	0.01316	-1.174000	0.01732	ACG		0.612	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		26	118	0	0	0	0	26	118				
ZNF160	90338	broad.mit.edu	37	19	53578367	53578367	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:53578367G>C	ENST00000429604.1	-	5	500	c.85C>G	c.(85-87)Cag>Gag	p.Q29E	ZNF160_ENST00000599056.1_Missense_Mutation_p.Q29E|ZNF160_ENST00000355147.5_Missense_Mutation_p.Q29E|ZNF160_ENST00000601421.1_5'UTR|ZNF160_ENST00000418871.1_Missense_Mutation_p.Q29E|ZNF160_ENST00000599729.1_5'Flank	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	29	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)		AAGATCCTCTGAGCAGGGTCC	0.453																																						uc010eqk.2		NA																	0				central_nervous_system(1)	1						c.(85-87)CAG>GAG		zinc finger protein 160							141.0	129.0	133.0					19																	53578367		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53578367G>C	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.85C>G	19.37:g.53578367G>C	ENSP00000406201:p.Gln29Glu					ZNF160_uc002qaq.3_Missense_Mutation_p.Q29E|ZNF160_uc002qar.3_Missense_Mutation_p.Q29E|ZNF160_uc002qas.3_Missense_Mutation_p.Q29E	p.Q29E	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	5	501	-			29			KRAB.		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.85C>G	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	9.551	1.115842	0.20795	.	.	ENSG00000170949	ENST00000429604;ENST00000418871;ENST00000355147	T;T;T	0.09073	3.02;3.02;3.02	2.46	2.46	0.29980	Krueppel-associated box (4);	.	.	.	.	T	0.36799	0.0980	H	0.94503	3.545	0.09310	N	1	D;D	0.76494	0.999;0.992	D;D	0.91635	0.999;0.987	T	0.13308	-1.0514	9	0.87932	D	0	.	10.0991	0.42493	0.0:0.0:1.0:0.0	.	29;29	Q9BVY9;Q9HCG1	.;ZN160_HUMAN	E	29	ENSP00000406201:Q29E;ENSP00000409597:Q29E;ENSP00000347273:Q29E	ENSP00000347273:Q29E	Q	-	1	0	ZNF160	58270179	0.980000	0.34600	0.084000	0.20598	0.159000	0.22180	3.028000	0.49705	1.357000	0.45904	0.462000	0.41574	CAG		0.453	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		68	134	0	0	0	0	68	134				
FCAR	2204	broad.mit.edu	37	19	55401040	55401040	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:55401040G>A	ENST00000355524.3	+	5	685	c.675G>A	c.(673-675)acG>acA	p.T225T	FCAR_ENST00000345937.4_Silent_p.T129T|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000359272.4_Silent_p.T213T|FCAR_ENST00000391723.3_Missense_Mutation_p.A189T|FCAR_ENST00000353758.4_Silent_p.T116T|FCAR_ENST00000391725.3_Silent_p.T203T|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000391724.3_Silent_p.T191T|FCAR_ENST00000391726.3_Silent_p.T117T	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	225					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		ATTACACGACGCAGAACTTGA	0.527																																						uc002qhr.1		NA																	0				ovary(1)|skin(1)	2						c.(673-675)ACG>ACA		Fc alpha receptor isoform a precursor							338.0	332.0	334.0					19																	55401040		2203	4300	6503	SO:0001819	synonymous_variant	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55401040G>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.675G>A	19.37:g.55401040G>A						FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Silent_p.T176T|FCAR_uc010esi.1_Silent_p.T102T|FCAR_uc002qhu.1_Silent_p.T129T|FCAR_uc002qhv.1_Silent_p.T203T|FCAR_uc002qhw.1_Silent_p.T213T|FCAR_uc002qhx.1_Silent_p.T117T|FCAR_uc002qhy.1_Silent_p.T191T|FCAR_uc002qhz.1_Missense_Mutation_p.A189T|FCAR_uc002qia.1_Silent_p.T116T	p.T225T	NM_002000	NP_001991	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	5	872	+			225			Extracellular (Potential).		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Silent	SNP	ENST00000355524.3	37	c.675G>A	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	g	10.22	1.288853	0.23478	.	.	ENSG00000186431	ENST00000391723	T	0.00580	6.43	3.9	-0.872	0.10638	.	.	.	.	.	T	0.00328	0.0010	.	.	.	0.09310	N	1	P	0.39665	0.682	B	0.25405	0.06	T	0.45071	-0.9286	7	.	.	.	.	3.9638	0.09423	0.3122:0.177:0.5108:0.0	.	189	Q92588	.	T	189	ENSP00000375603:A189T	.	A	+	1	0	FCAR	60092852	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.693000	0.05121	-0.123000	0.11745	-0.224000	0.12420	GCA		0.527	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		123	537	0	0	0	0	123	537				
TMEM150B	284417	broad.mit.edu	37	19	55824413	55824413	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:55824413G>A	ENST00000326652.4	-	8	698	c.516C>T	c.(514-516)ctC>ctT	p.L172L	TMEM150B_ENST00000438693.1_Silent_p.L172L|CTD-2105E13.14_ENST00000596786.1_RNA	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	172						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						AGCAGGCGTGGAGGACGATCA	0.687																																						uc010esw.1		NA																	0					0						c.(514-516)CTC>CTT		transmembrane protein 150B precursor							26.0	33.0	30.0					19																	55824413		2176	4273	6449	SO:0001819	synonymous_variant	284417					integral to membrane		g.chr19:55824413G>A	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"""transmembrane protein 224"""	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.516C>T	19.37:g.55824413G>A						TMEM150B_uc010yfu.1_Silent_p.L172L|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA	p.L172L	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN			8	689	-			172			Helical; (Potential).		B7ZW71	Silent	SNP	ENST00000326652.4	37	c.516C>T	CCDS42629.1																																																																																				0.687	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1	NM_001085488		5	15	0	0	0	0	5	15				
ZIM3	114026	broad.mit.edu	37	19	57646830	57646830	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:57646830G>C	ENST00000269834.1	-	5	1260	c.875C>G	c.(874-876)tCa>tGa	p.S292*	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AATGAGGGTTGAGTTCTGCCT	0.378																																						uc002qnz.1		NA																	0				pancreas(1)|skin(1)	2						c.(874-876)TCA>TGA		zinc finger, imprinted 3							116.0	114.0	115.0					19																	57646830		2203	4300	6503	SO:0001587	stop_gained	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646830G>C	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.875C>G	19.37:g.57646830G>C	ENSP00000269834:p.Ser292*						p.S292*	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1261	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	292			C2H2-type 5.		Q14CA6	Nonsense_Mutation	SNP	ENST00000269834.1	37	c.875C>G	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610711	0.66558	.	.	ENSG00000141946	ENST00000269834	.	.	.	2.53	2.53	0.30540	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.287	0.26344	0.1445:0.0:0.8555:0.0	.	.	.	.	X	292	.	ENSP00000269834:S292X	S	-	2	0	ZIM3	62338642	0.000000	0.05858	0.018000	0.16275	0.076000	0.17211	0.143000	0.16115	1.392000	0.46585	0.313000	0.20887	TCA		0.378	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			118	195	0	0	0	0	118	195				
VN1R1	57191	broad.mit.edu	37	19	57966870	57966870	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:57966870C>T	ENST00000321039.3	-	1	984	c.985G>A	c.(985-987)Gat>Aat	p.D329N	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_5'UTR	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	329					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		ATATGAGTATCACTCATGATG	0.463																																						uc002qos.1		NA																	0				ovary(1)	1						c.(985-987)GAT>AAT		vomeronasal 1 receptor 1							89.0	92.0	91.0					19																	57966870		2203	4300	6503	SO:0001583	missense	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57966870C>T	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.985G>A	19.37:g.57966870C>T	ENSP00000322339:p.Asp329Asn					ZNF547_uc002qpm.3_Intron	p.D329N	NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	1	985	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	329			Cytoplasmic (Potential).		B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	c.985G>A	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959268	0.53400	.	.	ENSG00000178201	ENST00000321039	T	0.27557	1.66	4.07	2.98	0.34508	.	.	.	.	.	T	0.31040	0.0784	L	0.41906	1.305	0.09310	N	1	P	0.47841	0.901	P	0.49665	0.618	T	0.10730	-1.0617	9	0.62326	D	0.03	.	5.5716	0.17200	0.0:0.6851:0.206:0.1089	.	329	Q9GZP7	VN1R1_HUMAN	N	329	ENSP00000322339:D329N	ENSP00000322339:D329N	D	-	1	0	VN1R1	62658682	0.038000	0.19896	0.008000	0.14137	0.004000	0.04260	1.865000	0.39479	1.019000	0.39547	0.638000	0.83543	GAT		0.463	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		30	99	0	0	0	0	30	99				
NT5C1B	93034	broad.mit.edu	37	2	18745214	18745214	+	Missense_Mutation	SNP	C	C	T	rs140939592	byFrequency	TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:18745214C>T	ENST00000359846.2	-	10	1758	c.1681G>A	c.(1681-1683)Gaa>Aaa	p.E561K	NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E561K|NT5C1B_ENST00000600945.1_Missense_Mutation_p.E561K|NT5C1B_ENST00000304081.4_Missense_Mutation_p.E501K	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	561					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AAAAGAGCTTCGTCTATCTCT	0.537													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16275	0.0		0.0	False		,,,				2504	0.0					uc002rcz.2		NA																	0				skin(2)|ovary(1)	3						c.(1681-1683)GAA>AAA		5' nucleotidase, cytosolic IB isoform 1		C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,,LYS/GLU,LYS/GLU	8,4398	14.3+/-33.2	0,8,2195	82.0	83.0	83.0		1681,1630,1732,1687,,1681,1501	6.2	1.0	2	dbSNP_134	83	0,8600		0,0,4300	yes	missense,missense,missense,missense,intron,missense,missense	NT5C1B,NT5C1B-RDH14	NM_001002006.2,NM_001199086.1,NM_001199087.1,NM_001199088.1,NM_001199103.1,NM_001199104.1,NM_033253.3	56,56,56,56,,56,56	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging,probably-damaging	561/611,544/594,578/628,563/613,,561/603,501/551	18745214	8,12998	2203	4300	6503	SO:0001583	missense	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18745214C>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1681G>A	2.37:g.18745214C>T	ENSP00000352904:p.Glu561Lys					NT5C1B_uc002rcy.2_Missense_Mutation_p.E561K|NT5C1B_uc010exr.2_Intron|NT5C1B_uc010yju.1_Missense_Mutation_p.E501K|NT5C1B_uc002rda.2_Missense_Mutation_p.E501K|NT5C1B_uc010yjv.1_Missense_Mutation_p.E578K|NT5C1B_uc010yjw.1_Missense_Mutation_p.E544K|NT5C1B_uc010exs.2_Missense_Mutation_p.E563K	p.E561K	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN			10	1785	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	561					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.1681G>A	CCDS33150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.021598|6.021598	0.97211|0.97211	0.001816|0.001816	0.0|0.0	ENSG00000250741;ENSG00000185013;ENSG00000185013|ENSG00000185013	ENST00000532967;ENST00000304081;ENST00000359846|ENST00000418427	.|.	.|.	.|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90542|0.90542	0.7036|0.7036	H|H	0.96720|0.96720	3.87|3.87	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;0.999;0.999;1.0;0.997|.	D|D	0.92388|0.92388	0.5919|0.5919	9|5	0.87932|.	D|.	0|.	-29.6765|-29.6765	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	544;578;501;544;501;561;561|.	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;Q96P26-2;Q96P26;Q96P26-4|.	.;.;.;.;.;5NT1B_HUMAN;.|.	K|Q	561;501;561|215	.|.	ENSP00000305979:E501K|.	E|R	-|-	1|2	0|0	NT5C1B-RDH14;NT5C1B|NT5C1B	18608695|18608695	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.776000|7.776000	0.85560|0.85560	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.537	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			38	118	0	0	0	0	38	118				
XDH	7498	broad.mit.edu	37	2	31621533	31621533	+	Silent	SNP	G	G	A	rs118042822		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:31621533G>A	ENST00000379416.3	-	5	387	c.339C>T	c.(337-339)tgC>tgT	p.C113C		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	113					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.C113C(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TGCAGAACCCGCACTGGGAGC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20320	0.001		0.0	False		,,,				2504	0.0				Colon(66;682 1445 30109 40147)	uc002rnv.1		NA																	1	Substitution - coding silent(1)		pancreas(1)	skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(337-339)TGC>TGT		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						115.0	119.0	117.0					2																	31621533		2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31621533G>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.339C>T	2.37:g.31621533G>A							p.C113C	NM_000379	NP_000370	P47989	XDH_HUMAN			5	418	-	Acute lymphoblastic leukemia(172;0.155)		113				Iron-sulfur (2Fe-2S) 2.	Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.339C>T	CCDS1775.1																																																																																				0.552	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		55	176	0	0	0	0	55	176				
FAM98A	25940	broad.mit.edu	37	2	33813507	33813507	+	Silent	SNP	A	A	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:33813507A>G	ENST00000238823.8	-	4	557	c.417T>C	c.(415-417)ggT>ggC	p.G139G	FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000403368.1_Silent_p.G139G|FAM98A_ENST00000441530.2_Intron			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	139							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					AGACCTCACTACCGCCTCCTT	0.413																																						uc002rpa.1		NA																	0				ovary(1)	1						c.(415-417)GGT>GGC		hypothetical protein LOC25940							135.0	128.0	131.0					2																	33813507		2203	4300	6503	SO:0001819	synonymous_variant	25940							g.chr2:33813507A>G		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.417T>C	2.37:g.33813507A>G						FAM98A_uc010yne.1_Intron|FAM98A_uc010ynd.1_5'Flank|FAM98A_uc002roz.1_Silent_p.G16G	p.G139G	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN			4	491	-	all_hematologic(175;0.115)		139					B2RNA2|Q9Y3Y6	Silent	SNP	ENST00000238823.8	37	c.417T>C	CCDS33179.1																																																																																				0.413	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		41	180	0	0	0	0	41	180				
USP34	9736	broad.mit.edu	37	2	61447483	61447483	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:61447483C>T	ENST00000398571.2	-	67	8085	c.8009G>A	c.(8008-8010)cGg>cAg	p.R2670Q	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2670					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAAAAGAAACCGCTCGACCCA	0.378																																						uc002sbe.2		NA																	0				ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(8008-8010)CGG>CAG		ubiquitin specific protease 34							208.0	207.0	207.0					2																	61447483		1825	4072	5897	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61447483C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8009G>A	2.37:g.61447483C>T	ENSP00000381577:p.Arg2670Gln						p.R2670Q	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		67	8031	-			2670					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.8009G>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005480	0.74932	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.33216	1.42	6.04	6.04	0.98038	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.38799	0.1054	N	0.14661	0.345	0.80722	D	1	D	0.64830	0.994	D	0.64042	0.921	T	0.11792	-1.0573	10	0.26408	T	0.33	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	2670	Q70CQ2	UBP34_HUMAN	Q	2518;2518;2670	ENSP00000381577:R2670Q	ENSP00000263989:R2518Q	R	-	2	0	USP34	61300987	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.579000	0.82511	2.873000	0.98535	0.563000	0.77884	CGG		0.378	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			103	383	0	0	0	0	103	383				
GCFC2	6936	broad.mit.edu	37	2	75921517	75921517	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:75921517C>T	ENST00000321027.3	-	6	1003	c.870G>A	c.(868-870)ctG>ctA	p.L290L	GCFC2_ENST00000409857.3_Silent_p.L252L|GCFC2_ENST00000541687.1_Missense_Mutation_p.E252K	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	290					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										CATACTCCCTCAGGTGTGAGC	0.299																																						uc002sno.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(868-870)CTG>CTA		hypothetical protein LOC6936							168.0	171.0	170.0					2																	75921517		2203	4300	6503	SO:0001819	synonymous_variant	6936				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:75921517C>T	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.870G>A	2.37:g.75921517C>T						C2orf3_uc010ffs.2_5'UTR|C2orf3_uc002snn.2_Silent_p.L121L|C2orf3_uc010fft.2_5'UTR	p.L290L	NM_003203	NP_003194	P16383	GCF_HUMAN			6	1000	-			290			Potential.		A4UHQ8|O95032|Q53TY0|Q6P2F2	Silent	SNP	ENST00000321027.3	37	c.870G>A	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	C	4.453	0.083876	0.08583	.	.	ENSG00000005436	ENST00000541687	T	0.30981	1.51	5.29	2.55	0.30701	.	.	.	.	.	T	0.16128	0.0388	.	.	.	0.20403	N	0.999902	.	.	.	.	.	.	T	0.31613	-0.9937	6	0.11182	T	0.66	-0.3198	7.5774	0.27944	0.0:0.6628:0.0:0.3372	.	.	.	.	K	252	ENSP00000437767:E252K	ENSP00000437767:E252K	E	-	1	0	C2orf3	75775025	0.647000	0.27304	0.999000	0.59377	0.883000	0.51084	0.409000	0.21082	0.343000	0.23821	-0.119000	0.15052	GAG		0.299	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		51	178	0	0	0	0	51	178				
RFTN2	130132	broad.mit.edu	37	2	198498526	198498526	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:198498526C>G	ENST00000295049.4	-	4	1170	c.634G>C	c.(634-636)Gag>Cag	p.E212Q		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	212					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						AGTTCTTCCTCAATTCCGCTT	0.403																																						uc002uuo.3		NA																	0					0						c.(634-636)GAG>CAG		raftlin family member 2							236.0	212.0	220.0					2																	198498526		2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198498526C>G	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.634G>C	2.37:g.198498526C>G	ENSP00000295049:p.Glu212Gln						p.E212Q	NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN			4	1036	-			212					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.634G>C	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074592	0.94000	.	.	ENSG00000162944	ENST00000295049	T	0.33865	1.39	5.27	5.27	0.74061	.	1.539810	0.03847	N	0.271650	T	0.61274	0.2334	M	0.64997	1.995	0.36624	D	0.87593	D	0.71674	0.998	P	0.62089	0.898	T	0.45963	-0.9225	10	0.33940	T	0.23	-15.6437	17.4389	0.87560	0.0:1.0:0.0:0.0	.	212	Q52LD8	RFTN2_HUMAN	Q	212	ENSP00000295049:E212Q	ENSP00000295049:E212Q	E	-	1	0	RFTN2	198206771	0.976000	0.34144	0.124000	0.21820	0.972000	0.66771	3.425000	0.52771	2.619000	0.88677	0.655000	0.94253	GAG		0.403	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		65	155	0	0	0	0	65	155				
STK36	27148	broad.mit.edu	37	2	219562684	219562684	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:219562684C>T	ENST00000295709.3	+	25	3296	c.3017C>T	c.(3016-3018)gCc>gTc	p.A1006V	STK36_ENST00000392105.3_Missense_Mutation_p.A985V|STK36_ENST00000392106.2_Missense_Mutation_p.A985V|STK36_ENST00000440309.1_Missense_Mutation_p.A1006V	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GGTGTCTTGGCCGACCTCAGG	0.547																																						uc002viu.2		NA																	0				ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11						c.(3016-3018)GCC>GTC		serine/threonine kinase 36							136.0	121.0	126.0					2																	219562684		2203	4300	6503	SO:0001583	missense	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219562684C>T	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.3017C>T	2.37:g.219562684C>T	ENSP00000295709:p.Ala1006Val					STK36_uc002viv.2_Missense_Mutation_p.A985V|STK36_uc002viw.2_Missense_Mutation_p.A184V|STK36_uc002vix.2_Missense_Mutation_p.A51V	p.A1006V	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	25	3283	+		Renal(207;0.0915)	1006						Missense_Mutation	SNP	ENST00000295709.3	37	c.3017C>T	CCDS2421.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.04|14.04	2.417916|2.417916	0.42918|0.42918	.|.	.|.	ENSG00000163482|ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309|ENST00000431040	T;T;T;T|.	0.71222|.	-0.53;-0.54;-0.55;-0.53|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|.	0.45126|.	D|.	0.000386|.	T|T	0.42131|0.42131	0.1189|0.1189	N|N	0.24115|0.24115	0.695|0.695	0.32123|0.32123	N|N	0.587796|0.587796	P;P;P|.	0.43662|.	0.666;0.814;0.544|.	B;B;B|.	0.42214|.	0.194;0.38;0.162|.	T|T	0.47686|0.47686	-0.9098|-0.9098	10|5	0.46703|.	T|.	0.11|.	-3.3237|-3.3237	14.1373|14.1373	0.65295|0.65295	0.1588:0.8412:0.0:0.0|0.1588:0.8412:0.0:0.0	.|.	985;985;1006|.	A8MU99;Q9NRP7-2;Q9NRP7|.	.;.;STK36_HUMAN|.	V|S	1006;985;985;1006|199	ENSP00000295709:A1006V;ENSP00000375955:A985V;ENSP00000375954:A985V;ENSP00000394095:A1006V|.	ENSP00000295709:A1006V|.	A|P	+|+	2|1	0|0	STK36|STK36	219270928|219270928	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.015000|0.015000	0.08874|0.08874	3.771000|3.771000	0.55318|0.55318	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.547	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			4	172	0	0	0	0	4	172				
FARP2	9855	broad.mit.edu	37	2	242312558	242312558	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:242312558G>A	ENST00000264042.3	+	2	206	c.36G>A	c.(34-36)caG>caA	p.Q12Q	FARP2_ENST00000479427.1_3'UTR|FARP2_ENST00000373287.4_Silent_p.Q12Q|FARP2_ENST00000545004.1_Silent_p.Q12Q	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	12					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GAGTCCTGCAGACTGCAGGGA	0.488																																						uc002wbi.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(34-36)CAG>CAA		FERM, RhoGEF and pleckstrin domain protein 2							59.0	61.0	61.0					2																	242312558		2203	4300	6503	SO:0001819	synonymous_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242312558G>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.36G>A	2.37:g.242312558G>A						FARP2_uc010zoq.1_Silent_p.Q12Q|FARP2_uc010zor.1_Silent_p.Q12Q	p.Q12Q	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	2	153	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	12					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	c.36G>A	CCDS33424.1																																																																																				0.488	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			36	79	0	0	0	0	36	79				
SIRPG	55423	broad.mit.edu	37	20	1629897	1629897	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr20:1629897G>A	ENST00000303415.3	-	2	295	c.231C>T	c.(229-231)atC>atT	p.I77I	SIRPG_ENST00000216927.4_Silent_p.I77I|SIRPG_ENST00000344103.4_Silent_p.I77I|SIRPG_ENST00000381583.2_Silent_p.I77I|SIRPG_ENST00000381580.1_Silent_p.I44I|RP11-77C3.3_ENST00000456177.1_RNA	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	77	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TTTGATTGTAGATTAATTCCC	0.517																																						uc002wfm.1		NA																	0				ovary(1)	1						c.(229-231)ATC>ATT		signal-regulatory protein gamma isoform 1							208.0	185.0	193.0					20																	1629897		2203	4300	6503	SO:0001819	synonymous_variant	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1629897G>A	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.231C>T	20.37:g.1629897G>A						SIRPG_uc002wfn.1_Silent_p.I77I|SIRPG_uc002wfo.1_Silent_p.I77I	p.I77I	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN			2	296	-			77			Extracellular (Potential).|Ig-like V-type.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	ENST00000303415.3	37	c.231C>T	CCDS13020.2																																																																																				0.517	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		44	146	0	0	0	0	44	146				
EPB41L1	2036	broad.mit.edu	37	20	34806864	34806864	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr20:34806864G>A	ENST00000338074.2	+	18	2496	c.2335G>A	c.(2335-2337)Gaa>Aaa	p.E779K	EPB41L1_ENST00000373941.1_Missense_Mutation_p.E778K|EPB41L1_ENST00000373950.2_Missense_Mutation_p.E670K|EPB41L1_ENST00000202028.5_Missense_Mutation_p.E677K|EPB41L1_ENST00000441639.1_Missense_Mutation_p.E677K|EPB41L1_ENST00000373946.3_Missense_Mutation_p.E599K	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	779	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GGTGGCCACGGAAATCCGTTC	0.582																																						uc002xfb.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2335-2337)GAA>AAA		erythrocyte membrane protein band 4.1-like 1							50.0	43.0	45.0					20																	34806864		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34806864G>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.2335G>A	20.37:g.34806864G>A	ENSP00000337168:p.Glu779Lys					EPB41L1_uc002xeu.2_Missense_Mutation_p.E677K|EPB41L1_uc010zvo.1_Missense_Mutation_p.E751K|EPB41L1_uc002xev.2_Missense_Mutation_p.E778K|EPB41L1_uc002xew.2_Missense_Mutation_p.E670K|EPB41L1_uc002xex.2_Missense_Mutation_p.E599K|EPB41L1_uc002xey.2_Missense_Mutation_p.E529K|EPB41L1_uc002xez.2_Missense_Mutation_p.E677K|EPB41L1_uc010gfq.2_Missense_Mutation_p.E877K	p.E779K	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN			18	2506	+	Breast(12;0.0239)		779			Carboxyl-terminal (CTD).		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.2335G>A	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556026	0.86231	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941;ENST00000454226	D;D;D;D;D;D	0.84442	-1.85;-1.68;-1.85;-1.77;-1.74;-1.78	4.31	4.31	0.51392	.	.	.	.	.	D	0.88228	0.6380	L	0.49126	1.545	0.38063	D	0.93612	P;P;P;P;D;B	0.63046	0.713;0.917;0.883;0.774;0.992;0.039	P;P;B;B;D;B	0.64687	0.678;0.743;0.379;0.318;0.928;0.028	D	0.88311	0.2956	9	0.40728	T	0.16	.	12.1583	0.54089	0.0:0.0:1.0:0.0	.	751;779;599;670;670;677	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	K	677;670;751;670;677;599;779;778;140	ENSP00000202028:E677K;ENSP00000363061:E670K;ENSP00000399214:E677K;ENSP00000363057:E599K;ENSP00000337168:E779K;ENSP00000363052:E778K	ENSP00000202028:E677K	E	+	1	0	EPB41L1	34270278	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.435000	0.66532	2.213000	0.71641	0.313000	0.20887	GAA		0.582	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		10	38	0	0	0	0	10	38				
PTPRT	11122	broad.mit.edu	37	20	40979290	40979290	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr20:40979290G>A	ENST00000373187.1	-	11	1842	c.1843C>T	c.(1843-1845)Cag>Tag	p.Q615*	PTPRT_ENST00000373201.1_Nonsense_Mutation_p.Q615*|PTPRT_ENST00000373198.4_Nonsense_Mutation_p.Q615*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.Q615*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.Q615*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.Q615*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.Q615*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	615	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCCCGGGACTGAGCGGGTTTC	0.527																																						uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(1843-1845)CAG>TAG		protein tyrosine phosphatase, receptor type, T							165.0	173.0	170.0					20																	40979290		2043	4197	6240	SO:0001587	stop_gained	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40979290G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1843C>T	20.37:g.40979290G>A	ENSP00000362283:p.Gln615*					PTPRT_uc010ggj.2_Nonsense_Mutation_p.Q615*	p.Q615*	NM_007050	NP_008981	O14522	PTPRT_HUMAN			11	2027	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	615			Extracellular (Potential).|Fibronectin type-III 4.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_Mutation	SNP	ENST00000373187.1	37	c.1843C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	42	9.586342	0.99213	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.91	4.94	0.65067	.	0.170937	0.52532	D	0.000063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	16.8826	0.86067	0.0:0.1283:0.8717:0.0	.	.	.	.	X	615	.	ENSP00000348408:Q615X	Q	-	1	0	PTPRT	40412704	1.000000	0.71417	0.903000	0.35520	0.941000	0.58515	9.569000	0.98170	1.446000	0.47643	0.655000	0.94253	CAG		0.527	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			30	139	0	0	0	0	30	139				
OSER1	51526	broad.mit.edu	37	20	42825779	42825779	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr20:42825779C>T	ENST00000372970.2	-	6	972	c.792G>A	c.(790-792)gtG>gtA	p.V264V	OSER1_ENST00000255174.2_Silent_p.V264V			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	264					cellular response to hydrogen peroxide (GO:0070301)												CCTCAATGGTCACATCATCCA	0.488																																						uc002xlk.2		NA																	0					0						c.(790-792)GTG>GTA		oxidative stress responsive 1							116.0	109.0	111.0					20																	42825779		2203	4300	6503	SO:0001819	synonymous_variant	51526							g.chr20:42825779C>T	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"""peroxide-inducible transcript 1"", ""oxidative stress-responsive 1"""		"""chromosome 20 open reading frame 111"""	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.792G>A	20.37:g.42825779C>T							p.V264V	NM_016470	NP_057554	Q9NX31	CT111_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	929	-		Myeloproliferative disorder(115;0.028)	264					B2RCK4|O95912|Q9NZ84|Q9P0R8	Silent	SNP	ENST00000372970.2	37	c.792G>A	CCDS13327.1																																																																																				0.488	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470		30	159	0	0	0	0	30	159				
STAU1	6780	broad.mit.edu	37	20	47734390	47734390	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr20:47734390G>A	ENST00000371856.2	-	11	1843	c.1433C>T	c.(1432-1434)tCa>tTa	p.S478L	STAU1_ENST00000371828.3_Missense_Mutation_p.S403L|STAU1_ENST00000347458.5_Missense_Mutation_p.S397L|STAU1_ENST00000371802.1_Missense_Mutation_p.S403L|STAU1_ENST00000340954.7_Missense_Mutation_p.S397L|STAU1_ENST00000360426.4_Missense_Mutation_p.S397L|STAU1_ENST00000371792.1_Missense_Mutation_p.S395L	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	478					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TACGTGGCCTGAAGAGATGTT	0.537																																						uc002xud.2		NA																	0				ovary(4)|kidney(1)	5						c.(1432-1434)TCA>TTA		staufen isoform b							113.0	105.0	107.0					20																	47734390		2203	4300	6503	SO:0001583	missense	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47734390G>A		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1433C>T	20.37:g.47734390G>A	ENSP00000360922:p.Ser478Leu					STAU1_uc002xua.2_Missense_Mutation_p.S397L|STAU1_uc002xub.2_Missense_Mutation_p.S403L|STAU1_uc002xuc.2_Missense_Mutation_p.S397L|STAU1_uc002xue.2_Missense_Mutation_p.S397L|STAU1_uc002xuf.2_Missense_Mutation_p.S403L|STAU1_uc002xug.2_Missense_Mutation_p.S478L	p.S478L	NM_017453	NP_059347	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		11	1844	-			478					A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	c.1433C>T	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139373	0.56936	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.62	5.62	0.85841	.	0.237818	0.38959	N	0.001504	T	0.18759	0.0450	N	0.03608	-0.345	0.50313	D	0.999865	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.08126	-1.0737	10	0.52906	T	0.07	-10.4449	19.6778	0.95943	0.0:0.0:1.0:0.0	.	478;403	O95793;Q5JW29	STAU1_HUMAN;.	L	403;397;478;397;397;397;403;395	ENSP00000360893:S403L;ENSP00000345425:S397L;ENSP00000360922:S478L;ENSP00000353604:S397L;ENSP00000323443:S397L;ENSP00000360867:S403L;ENSP00000360857:S395L	ENSP00000345425:S397L	S	-	2	0	STAU1	47167797	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.366000	0.66122	2.645000	0.89757	0.650000	0.86243	TCA		0.537	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		24	93	0	0	0	0	24	93				
PI4KA	5297	broad.mit.edu	37	22	21115663	21115663	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr22:21115663G>A	ENST00000572273.1	-	23	2776	c.2546C>T	c.(2545-2547)tCa>tTa	p.S849L	PI4KA_ENST00000466162.1_5'UTR|PI4KA_ENST00000255882.6_Missense_Mutation_p.S907L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	849					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGGATCTGTTGAACGCAGTAC	0.393																																					GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3		NA																	0				lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(2545-2547)TCA>TTA		phosphatidylinositol 4-kinase type 3 alpha							89.0	81.0	84.0					22																	21115663		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21115663G>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2546C>T	22.37:g.21115663G>A	ENSP00000458238:p.Ser849Leu						p.S849L	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		23	2777	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	849					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.2546C>T		.	.	.	.	.	.	.	.	.	.	G	18.69	3.678088	0.68042	.	.	ENSG00000241973	ENST00000255882	T	0.43294	0.95	5.29	5.29	0.74685	.	0.060482	0.64402	D	0.000002	T	0.48822	0.1521	M	0.73962	2.25	0.80722	D	1	B	0.06786	0.001	B	0.17722	0.019	T	0.46034	-0.9220	10	0.48119	T	0.1	-11.4691	19.1301	0.93402	0.0:0.0:1.0:0.0	.	849	P42356	PI4KA_HUMAN	L	849	ENSP00000255882:S849L	ENSP00000255882:S849L	S	-	2	0	PI4KA	19445663	1.000000	0.71417	0.958000	0.39756	0.634000	0.38068	9.193000	0.94954	2.767000	0.95098	0.655000	0.94253	TCA		0.393	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		23	46	0	0	0	0	23	46				
CHDH	55349	broad.mit.edu	37	3	53852082	53852082	+	Missense_Mutation	SNP	G	G	A	rs574370935	byFrequency	TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:53852082G>A	ENST00000315251.6	-	9	1944	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	503					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GCTTTTGCCCGCACAAAGGCA	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		19077	0.002		0.0	False		,,,				2504	0.0					uc003dgz.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1507-1509)CGG>TGG		choline dehydrogenase precursor	Choline(DB00122)						104.0	99.0	101.0					3																	53852082		2203	4300	6503	SO:0001583	missense	55349				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:53852082G>A	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.1507C>T	3.37:g.53852082G>A	ENSP00000319851:p.Arg503Trp						p.R503W	NM_018397	NP_060867	Q8NE62	CHDH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	9	1947	-		Hepatocellular(537;0.152)	503					Q9NY17	Missense_Mutation	SNP	ENST00000315251.6	37	c.1507C>T	CCDS2873.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403049	0.83230	.	.	ENSG00000016391	ENST00000315251	T	0.55234	0.53	5.69	4.74	0.60224	Glucose-methanol-choline oxidoreductase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81278	0.4789	H	0.97635	4.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.86899	0.2053	10	0.87932	D	0	-44.1731	13.3832	0.60780	0.0:0.0:0.7318:0.2682	.	503	Q8NE62	CHDH_HUMAN	W	503	ENSP00000319851:R503W	ENSP00000319851:R503W	R	-	1	2	CHDH	53827122	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.555000	0.53727	2.676000	0.91093	0.655000	0.94253	CGG		0.582	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		4	141	0	0	0	0	4	141				
TFG	10342	broad.mit.edu	37	3	100463729	100463729	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:100463729G>A	ENST00000240851.4	+	7	1114	c.774G>A	c.(772-774)ccG>ccA	p.P258P	TFG_ENST00000490574.1_Silent_p.P258P|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000476228.1_Silent_p.P254P|TFG_ENST00000418917.2_Silent_p.P254P	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	258					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CACAGCAGCCGCAGGCTCCAC	0.468			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	uc003due.2		NA		Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"""E, L"""	NTRK1|ALK		papillary thyroid|ALCL|NSCLC	TFG/ALK(7)	0				haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1)	11						c.(772-774)CCG>CCA		TRK-fused							114.0	112.0	113.0					3																	100463729		2203	4300	6503	SO:0001819	synonymous_variant	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100463729G>A	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.774G>A	3.37:g.100463729G>A						TFG_uc003duf.2_Silent_p.P258P|TFG_uc003dug.2_Silent_p.P254P|TFG_uc003duh.2_Silent_p.P254P|TFG_uc003dui.2_Silent_p.P258P	p.P258P	NM_006070	NP_006061	Q92734	TFG_HUMAN			7	1223	+			258					D3DN49|G5E9V1|Q15656|Q969I2	Silent	SNP	ENST00000240851.4	37	c.774G>A	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	G	7.450	0.642579	0.14451	.	.	ENSG00000114354	ENST00000443578	.	.	.	5.63	-11.3	0.00108	.	.	.	.	.	T	0.60090	0.2242	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.80752	-0.1242	5	0.72032	D	0.01	-9.5101	8.4185	0.32685	0.424:0.394:0.1134:0.0685	.	.	.	.	H	254	.	ENSP00000409727:R254H	R	+	2	0	TFG	101946419	0.000000	0.05858	0.001000	0.08648	0.917000	0.54804	-3.834000	0.00354	-5.428000	0.00014	-1.084000	0.02203	CGC		0.468	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		19	103	0	0	0	0	19	103				
TIMMDC1	51300	broad.mit.edu	37	3	119236073	119236073	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:119236073G>A	ENST00000494664.1	+	6	820	c.618G>A	c.(616-618)ctG>ctA	p.L206L	TIMMDC1_ENST00000493694.1_Silent_p.L72L	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	206						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						GAGGCCTGCTGATGGCATTTC	0.453																																						uc003ecn.2		NA																	0					0						c.(616-618)CTG>CTA		hypothetical protein LOC51300							102.0	106.0	105.0					3																	119236073		2203	4300	6503	SO:0001819	synonymous_variant	51300					integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr3:119236073G>A	AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"""chromosome 3 open reading frame 1"""	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.618G>A	3.37:g.119236073G>A						C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_RNA	p.L206L	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	6	831	+			206			Helical; (Potential).		D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Silent	SNP	ENST00000494664.1	37	c.618G>A	CCDS33831.1																																																																																				0.453	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589		29	144	0	0	0	0	29	144				
CD80	941	broad.mit.edu	37	3	119248743	119248743	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:119248743C>T	ENST00000264246.3	-	5	1104	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	CD80_ENST00000383669.3_Intron|CD80_ENST00000383668.3_Intron|CD80_ENST00000478182.1_Missense_Mutation_p.A248T	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	248					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	AAGGTAATGGCCCAGGATGGG	0.403																																					Melanoma(132;135 1764 1806 5833 14593)	uc003ecq.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(742-744)GCC>ACC		CD80 antigen precursor	Abatacept(DB01281)						136.0	125.0	129.0					3																	119248743		2203	4300	6503	SO:0001583	missense	941				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding	g.chr3:119248743C>T		CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1700	protein-coding gene	gene with protein product	"""B-lymphocyte activation antigen B7"""	112203	"""CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)"", ""CD80 molecule """	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.742G>A	3.37:g.119248743C>T	ENSP00000264246:p.Ala248Thr					CD80_uc010hqt.1_Intron|CD80_uc010hqu.1_Intron	p.A248T	NM_005191	NP_005182	P33681	CD80_HUMAN			5	1137	-			248			Helical; (Potential).		Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	37	c.742G>A	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	C	7.875	0.728932	0.15507	.	.	ENSG00000121594	ENST00000264246;ENST00000478182	T;T	0.01369	4.97;4.97	4.24	-8.49	0.00931	.	2.998870	0.01543	N	0.019314	T	0.00784	0.0026	N	0.03608	-0.345	0.09310	N	0.999995	B	0.12013	0.005	B	0.06405	0.002	T	0.42378	-0.9455	10	0.34782	T	0.22	7.3743	5.1983	0.15250	0.0814:0.1115:0.2424:0.5647	.	248	P33681	CD80_HUMAN	T	248	ENSP00000264246:A248T;ENSP00000418364:A248T	ENSP00000264246:A248T	A	-	1	0	CD80	120731433	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.733000	0.00192	-3.778000	0.00108	-0.471000	0.05019	GCC		0.403	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	NM_005191		20	114	0	0	0	0	20	114				
EFCC1	79825	broad.mit.edu	37	3	128755858	128755858	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:128755858G>A	ENST00000480450.1	+	6	1488	c.1488G>A	c.(1486-1488)ctG>ctA	p.L496L	EFCC1_ENST00000436022.2_Silent_p.L59L			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	496							calcium ion binding (GO:0005509)										ATGAGCACCTGAGGCTGGAGC	0.627																																						uc011bkt.1		NA																	0					0						c.(1486-1488)CTG>CTA		coiled-coil domain containing 48							64.0	66.0	65.0					3																	128755858		2203	4300	6503	SO:0001819	synonymous_variant	79825							g.chr3:128755858G>A	AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"""EF-hand domain containing"""	25692	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 73"", ""coiled-coil domain containing 48"""	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1488G>A	3.37:g.128755858G>A							p.L496L	NM_024768	NP_079044	Q9HA90	CCD48_HUMAN			6	1488	+			496			Potential.		A8MYE2	Silent	SNP	ENST00000480450.1	37	c.1488G>A	CCDS3054.2																																																																																				0.627	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1	NM_024768		20	65	0	0	0	0	20	65				
AMOTL2	51421	broad.mit.edu	37	3	134086483	134086483	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:134086483G>A	ENST00000422605.2	-	3	1063	c.897C>T	c.(895-897)gcC>gcT	p.A299A	AMOTL2_ENST00000249883.5_Silent_p.A299A|AMOTL2_ENST00000513145.1_Silent_p.A299A|AMOTL2_ENST00000514516.1_Silent_p.A357A|AMOTL2_ENST00000511759.1_5'Flank			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	299					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						AGGAGGCCTGGGCACTCACTG	0.667																																						uc003eqf.2		NA																	0				large_intestine(1)	1						c.(1069-1071)GCC>GCT		angiomotin like 2							32.0	35.0	34.0					3																	134086483		2203	4300	6503	SO:0001819	synonymous_variant	51421							g.chr3:134086483G>A	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.897C>T	3.37:g.134086483G>A						AMOTL2_uc003eqg.1_Silent_p.A299A|AMOTL2_uc003eqh.1_Silent_p.A299A|AMOTL2_uc003eqe.1_5'Flank	p.A357A	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN			3	1188	-			299					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Silent	SNP	ENST00000422605.2	37	c.1071C>T																																																																																					0.667	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		27	88	0	0	0	0	27	88				
GRK7	131890	broad.mit.edu	37	3	141497261	141497261	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:141497261C>T	ENST00000264952.2	+	1	272	c.135C>T	c.(133-135)tgC>tgT	p.C45C		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	45					protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TGCAGGGCTGCGCGGAGCTCC	0.687																																						uc011bnd.1		NA																	0				lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(133-135)TGC>TGT		G-protein-coupled receptor kinase 7 precursor							16.0	19.0	18.0					3																	141497261		2197	4288	6485	SO:0001819	synonymous_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141497261C>T		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.135C>T	3.37:g.141497261C>T							p.C45C	NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN			1	219	+			45						Silent	SNP	ENST00000264952.2	37	c.135C>T	CCDS3120.1																																																																																				0.687	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		12	33	0	0	0	0	12	33				
RAP2B	5912	broad.mit.edu	37	3	152880843	152880843	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:152880843G>C	ENST00000323534.2	+	1	815	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	121					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GGTGGACCTGGAGGGTGAGCG	0.627																																						uc003ezr.2		NA																	0				lung(2)	2						c.(361-363)GAG>CAG		RAP2B, member of RAS oncogene family precursor							78.0	65.0	70.0					3																	152880843		2203	4300	6503	SO:0001583	missense	5912				Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chr3:152880843G>C		CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"""Ras-related protein RAP-2B"", ""small GTP binding protein"", ""Ras family small GTP binding protein RAP2B"""	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.361G>C	3.37:g.152880843G>C	ENSP00000319096:p.Glu121Gln						p.E121Q	NM_002886	NP_002877	P61225	RAP2B_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	815	+			121					P17964|Q96EG5|Q9CXG0	Missense_Mutation	SNP	ENST00000323534.2	37	c.361G>C	CCDS3170.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578517	0.65878	.	.	ENSG00000181467	ENST00000323534	T	0.78003	-1.14	4.67	4.67	0.58626	Small GTP-binding protein domain (1);	0.067823	0.56097	U	0.000026	T	0.76543	0.4002	M	0.75150	2.29	0.80722	D	1	P	0.38711	0.643	B	0.34418	0.182	T	0.80091	-0.1527	10	0.49607	T	0.09	.	16.3249	0.82975	0.0:0.0:1.0:0.0	.	121	P61225	RAP2B_HUMAN	Q	121	ENSP00000319096:E121Q	ENSP00000319096:E121Q	E	+	1	0	RAP2B	154363533	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.405000	0.80007	2.412000	0.81896	0.563000	0.77884	GAG		0.627	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	NM_002886		43	75	0	0	0	0	43	75				
SLC7A14	57709	broad.mit.edu	37	3	170184960	170184960	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:170184960C>G	ENST00000231706.5	-	8	2514	c.2199G>C	c.(2197-2199)caG>caC	p.Q733H	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	733					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CATCTGACATCTGTTGGTAAT	0.532																																						uc003fgz.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(2197-2199)CAG>CAC		solute carrier family 7 (cationic amino acid							117.0	105.0	110.0					3																	170184960		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170184960C>G	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.2199G>C	3.37:g.170184960C>G	ENSP00000231706:p.Gln733His					CLDN11_uc011bpt.1_Intron|uc003fha.1_5'Flank	p.Q733H	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		8	2515	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		733					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.2199G>C	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559733	0.45590	.	.	ENSG00000013293	ENST00000231706	D	0.88124	-2.34	5.9	5.04	0.67666	.	0.253729	0.33792	N	0.004546	D	0.87629	0.6225	N	0.24115	0.695	0.51767	D	0.999931	D	0.57571	0.98	D	0.66979	0.948	D	0.88512	0.3090	10	0.62326	D	0.03	.	11.7898	0.52063	0.0:0.849:0.0:0.151	.	733	Q8TBB6	S7A14_HUMAN	H	733	ENSP00000231706:Q733H	ENSP00000231706:Q733H	Q	-	3	2	SLC7A14	171667654	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	2.581000	0.46077	1.520000	0.48965	0.655000	0.94253	CAG		0.532	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		48	208	0	0	0	0	48	208				
EIF4G1	1981	broad.mit.edu	37	3	184043113	184043113	+	Silent	SNP	G	G	A	rs553609598	byFrequency	TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:184043113G>A	ENST00000346169.2	+	19	3184	c.2913G>A	c.(2911-2913)acG>acA	p.T971T	EIF4G1_ENST00000342981.4_Silent_p.T972T|EIF4G1_ENST00000411531.1_Silent_p.T932T|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Silent_p.T776T|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000319274.6_Silent_p.T971T|EIF4G1_ENST00000427845.1_Silent_p.T885T|EIF4G1_ENST00000435046.2_Silent_p.T775T|EIF4G1_ENST00000350481.5_Silent_p.T807T|EIF4G1_ENST00000441154.1_Silent_p.T808T|EIF4G1_ENST00000424196.1_Silent_p.T978T|EIF4G1_ENST00000392537.2_Silent_p.T884T|EIF4G1_ENST00000382330.3_Silent_p.T978T|EIF4G1_ENST00000352767.3_Silent_p.T978T|EIF4G1_ENST00000414031.1_Silent_p.T931T	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	971	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAAAGAAGACGTCATCCCGCA	0.522													G|||	4	0.000798722	0.0	0.0	5008	,	,		20822	0.0		0.0	False		,,,				2504	0.0041					uc003fnp.2		NA																	0				lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2911-2913)ACG>ACA		eukaryotic translation initiation factor 4							111.0	109.0	110.0					3																	184043113		2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184043113G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2913G>A	3.37:g.184043113G>A						EIF4G1_uc003fno.1_Silent_p.T912T|EIF4G1_uc010hxw.1_Silent_p.T807T|EIF4G1_uc003fnt.2_Silent_p.T682T|EIF4G1_uc003fnq.2_Silent_p.T884T|EIF4G1_uc003fnr.2_Silent_p.T807T|EIF4G1_uc010hxx.2_Silent_p.T978T|EIF4G1_uc003fns.2_Silent_p.T931T|EIF4G1_uc010hxy.2_Silent_p.T978T|EIF4G1_uc003fnv.3_Silent_p.T972T|EIF4G1_uc003fnu.3_Silent_p.T971T|EIF4G1_uc003fnw.2_Silent_p.T978T|EIF4G1_uc003fnx.2_Silent_p.T776T|EIF4G1_uc003fny.3_Silent_p.T775T|SNORD66_uc003fnz.2_5'Flank	p.T971T	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		19	3111	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		971			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.2913G>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	7.518	0.656034	0.14580	.	.	ENSG00000114867	ENST00000448284	.	.	.	5.53	-9.65	0.00537	.	.	.	.	.	T	0.31888	0.0811	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40757	-0.9546	4	.	.	.	-13.1435	1.2634	0.02006	0.454:0.2045:0.1999:0.1415	.	.	.	.	H	23	.	.	R	+	2	0	EIF4G1	185525807	0.000000	0.05858	0.824000	0.32777	0.913000	0.54294	-1.966000	0.01509	-1.605000	0.01593	-0.378000	0.06908	CGT		0.522	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		32	162	0	0	0	0	32	162				
WHSC1	7468	broad.mit.edu	37	4	1976646	1976646	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:1976646C>A	ENST00000382895.3	+	21	3860	c.3429C>A	c.(3427-3429)agC>agA	p.S1143R	WHSC1_ENST00000508803.1_Missense_Mutation_p.S1143R|SCARNA22_ENST00000503991.1_RNA|WHSC1_ENST00000382892.2_Missense_Mutation_p.S1143R|WHSC1_ENST00000382891.5_Missense_Mutation_p.S1143R|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.S491R	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1143	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGAATCACAGCTGCCAGCCCA	0.507			T	IGH@	MM																																	uc003gdz.3		NA		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(3427-3429)AGC>AGA		Wolf-Hirschhorn syndrome candidate 1 protein							128.0	129.0	129.0					4																	1976646		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1976646C>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3429C>A	4.37:g.1976646C>A	ENSP00000372351:p.Ser1143Arg					WHSC1_uc003geb.3_Missense_Mutation_p.S1143R|WHSC1_uc003gec.3_Missense_Mutation_p.S1143R|WHSC1_uc003ged.3_Missense_Mutation_p.S1143R|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.S362R|WHSC1_uc011bvh.1_Missense_Mutation_p.S204R|WHSC1_uc010icf.2_Missense_Mutation_p.S491R	p.S1143R	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	19	3605	+		all_epithelial(65;1.34e-05)	1143			SET.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.3429C>A	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549210	0.86127	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53;-3.53	4.96	4.12	0.48240	SET domain (3);	0.000000	0.64402	D	0.000005	D	0.98305	0.9438	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.98948	1.0793	10	0.87932	D	0	.	13.2587	0.60093	0.0:0.9234:0.0:0.0766	.	491;1143	A2A2T2;O96028	.;NSD2_HUMAN	R	1143;1143;1143;1143;491	ENSP00000423972:S1143R;ENSP00000372347:S1143R;ENSP00000372348:S1143R;ENSP00000372351:S1143R;ENSP00000372344:S491R	ENSP00000372344:S491R	S	+	3	2	WHSC1	1946444	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.198000	0.51035	1.330000	0.45394	0.467000	0.42956	AGC		0.507	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		53	109	1	0	1.77e-36	1.99e-36	53	109				
HGFAC	3083	broad.mit.edu	37	4	3444828	3444828	+	Missense_Mutation	SNP	G	G	A	rs554424799		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:3444828G>A	ENST00000382774.3	+	3	465	c.350G>A	c.(349-351)cGc>cAc	p.R117H	HGFAC_ENST00000511533.1_Missense_Mutation_p.R117H	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	117	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TACGGGGGCCGCATGCTGCAT	0.721													G|||	1	0.000199681	0.0	0.0	5008	,	,		14389	0.001		0.0	False		,,,				2504	0.0					uc003ghc.2		NA																	0				central_nervous_system(2)	2						c.(349-351)CGC>CAC		HGF activator preproprotein							17.0	22.0	20.0					4																	3444828		2193	4289	6482	SO:0001583	missense	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3444828G>A	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.350G>A	4.37:g.3444828G>A	ENSP00000372224:p.Arg117His					HGFAC_uc010icw.2_Missense_Mutation_p.R117H	p.R117H	NM_001528	NP_001519	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	3	353	+			117			Fibronectin type-II.		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	c.350G>A	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.313041	0.23908	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	T;T	0.50548	0.74;0.74	3.16	2.17	0.27698	Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.000000	0.64402	U	0.000005	T	0.36635	0.0974	L	0.52759	1.655	0.31138	N	0.706937	B;B	0.30973	0.302;0.139	B;B	0.29598	0.063;0.104	T	0.46925	-0.9156	10	0.59425	D	0.04	.	6.6572	0.22994	0.0:0.0:0.7172:0.2828	.	117;117	D6RAR4;Q04756	.;HGFA_HUMAN	H	117	ENSP00000372224:R117H;ENSP00000421801:R117H	ENSP00000372224:R117H	R	+	2	0	HGFAC	3414626	0.997000	0.39634	0.988000	0.46212	0.213000	0.24496	1.277000	0.33167	1.709000	0.51313	0.306000	0.20318	CGC		0.721	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			3	16	0	0	0	0	3	16				
TBC1D19	55296	broad.mit.edu	37	4	26719590	26719590	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:26719590G>A	ENST00000264866.4	+	14	1268	c.990G>A	c.(988-990)ttG>ttA	p.L330L	TBC1D19_ENST00000511789.1_Silent_p.L265L	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	330	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CATCTGTGTTGAGTCACTTTG	0.303																																						uc003gsf.3		NA																	0				breast(1)	1						c.(988-990)TTG>TTA		TBC1 domain family, member 19							160.0	148.0	152.0					4																	26719590		2203	4300	6503	SO:0001819	synonymous_variant	55296					intracellular	Rab GTPase activator activity	g.chr4:26719590G>A	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.990G>A	4.37:g.26719590G>A						TBC1D19_uc010iew.2_Silent_p.L330L|TBC1D19_uc011bxu.1_Silent_p.L265L	p.L330L	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN			14	1260	+		Breast(46;0.0503)	330			Rab-GAP TBC.		B9A6M0|Q9NUX1	Silent	SNP	ENST00000264866.4	37	c.990G>A	CCDS3439.1																																																																																				0.303	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		34	105	0	0	0	0	34	105				
ANKRD17	26057	broad.mit.edu	37	4	73990774	73990774	+	Splice_Site	SNP	A	A	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:73990774A>G	ENST00000358602.4	-	18	3464	c.3348T>C	c.(3346-3348)ggT>ggC	p.G1116G	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Splice_Site_p.G1003G|ANKRD17_ENST00000330838.6_Splice_Site_p.G865G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1116					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTGGAGTAAAACCTGGAGAAA	0.378																																						uc003hgp.2		NA																	0				ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(3346-3348)GGT>GGC		ankyrin repeat domain protein 17 isoform a							88.0	86.0	87.0					4																	73990774		2203	4300	6503	SO:0001630	splice_region_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73990774A>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3347-1T>C	4.37:g.73990774A>G						ANKRD17_uc003hgo.2_Silent_p.G1003G|ANKRD17_uc003hgq.2_Silent_p.G865G|ANKRD17_uc003hgr.2_Silent_p.G1115G|ANKRD17_uc011cbd.1_Silent_p.G681G	p.G1116G	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		18	3465	-	Breast(15;0.000295)		1116			ANK 17.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.3348T>C	CCDS34004.1																																																																																				0.378	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	Silent	28	84	0	0	0	0	28	84				
LAMTOR3	8649	broad.mit.edu	37	4	100808471	100808471	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:100808471C>T	ENST00000499666.2	-	4	277	c.85G>A	c.(85-87)Gga>Aga	p.G29R	LAMTOR3_ENST00000515100.1_5'UTR|LAMTOR3_ENST00000226522.8_Missense_Mutation_p.G29R	NM_001243736.1|NM_021970.3	NP_001230665.1|NP_068805.1	Q9UHA4	LTOR3_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 3	29					cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Ragulator complex (GO:0071986)				endometrium(1)|large_intestine(1)|lung(1)	3						ACAGGTACTCCATCTCTATCT	0.279																																						uc003hvg.2		NA																	0					0						c.(85-87)GGA>AGA		MAPK scaffold protein 1							54.0	49.0	51.0					4																	100808471		2202	4296	6498	SO:0001583	missense	8649				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	Ragulator complex	protein binding	g.chr4:100808471C>T	AF201947	CCDS3652.1, CCDS58920.1	4q24-q26	2012-02-28	2011-02-15	2011-02-15	ENSG00000109270	ENSG00000109270			15606	protein-coding gene	gene with protein product	"""MEK partner 1"""	603296	"""mitogen-activated protein kinase kinase 1 interacting protein 1"", ""MAPK scaffold protein 1"""	MAP2K1IP1, MAPKSP1		9733512, 15016825	Standard	NM_021970		Approved	MP1, MAPBP, Ragulator3	uc003hvg.2	Q9UHA4	OTTHUMG00000131050	ENST00000499666.2:c.85G>A	4.37:g.100808471C>T	ENSP00000424183:p.Gly29Arg					MAPKSP1_uc003hvi.2_RNA|MAPKSP1_uc003hvh.2_Missense_Mutation_p.G29R	p.G29R	NM_021970	NP_068805	Q9UHA4	LTOR3_HUMAN			4	334	-			29					B2R4A1|J3KMX4|Q9H364	Missense_Mutation	SNP	ENST00000499666.2	37	c.85G>A	CCDS3652.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469290	0.84533	.	.	ENSG00000109270	ENST00000499666;ENST00000226522	.	.	.	4.72	4.72	0.59763	.	0.052164	0.85682	D	0.000000	D	0.84875	0.5569	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.88351	0.2981	9	0.87932	D	0	.	18.0646	0.89387	0.0:1.0:0.0:0.0	.	29;29	Q53FH6;Q9UHA4	.;LTOR3_HUMAN	R	29	.	ENSP00000226522:G29R	G	-	1	0	LAMTOR3	101027494	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.137000	0.77295	2.343000	0.79666	0.467000	0.42956	GGA		0.279	LAMTOR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253698.2	NM_021970		7	35	0	0	0	0	7	35				
PAPSS1	9061	broad.mit.edu	37	4	108552816	108552816	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:108552816C>G	ENST00000265174.4	-	11	1979	c.1707G>C	c.(1705-1707)aaG>aaC	p.K569N		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	569					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CCATACGCTTCTTTTTCTTGT	0.423																																						uc003hyk.2		NA																	0				ovary(1)	1						c.(1705-1707)AAG>AAC		3'-phosphoadenosine 5'-phosphosulfate synthase							132.0	131.0	132.0					4																	108552816		2203	4300	6503	SO:0001583	missense	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	g.chr4:108552816C>G	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.1707G>C	4.37:g.108552816C>G	ENSP00000265174:p.Lys569Asn						p.K569N	NM_005443	NP_005434	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	11	1791	-		Hepatocellular(203;0.217)	569			Adenylyl-sulfate kinase.		O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	c.1707G>C	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983146	0.34942	.	.	ENSG00000138801	ENST00000265174	T	0.30981	1.51	5.62	4.78	0.61160	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.042791	0.85682	D	0.000000	T	0.31389	0.0795	L	0.59967	1.855	0.80722	D	1	P	0.48294	0.908	B	0.40864	0.342	T	0.07849	-1.0751	10	0.33940	T	0.23	-15.3357	14.32	0.66479	0.0:0.9295:0.0:0.0705	.	569	O43252	PAPS1_HUMAN	N	569	ENSP00000265174:K569N	ENSP00000265174:K569N	K	-	3	2	PAPSS1	108772265	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	0.741000	0.26202	1.382000	0.46385	0.650000	0.86243	AAG		0.423	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			45	174	0	0	0	0	45	174				
CASP6	839	broad.mit.edu	37	4	110612108	110612108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:110612108G>A	ENST00000265164.2	-	6	618	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	CASP6_ENST00000510324.1_5'UTR|CASP6_ENST00000352981.3_Nonsense_Mutation_p.Q92*|AC004067.5_ENST00000608733.1_RNA	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	181					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		TTCTCTGTCTGATTATCTACT	0.488																																						uc003hzn.1		NA																	0				ovary(1)|breast(1)	2						c.(541-543)CAG>TAG		caspase 6 isoform alpha preproprotein							198.0	176.0	183.0					4																	110612108		2203	4300	6503	SO:0001587	stop_gained	839				cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding	g.chr4:110612108G>A	U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"""Caspases"""	1507	protein-coding gene	gene with protein product		601532	"""caspase 6, apoptosis-related cysteine protease"""			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.541C>T	4.37:g.110612108G>A	ENSP00000265164:p.Gln181*					CASP6_uc003hzo.1_Nonsense_Mutation_p.Q92*	p.Q181*	NM_001226	NP_001217	P55212	CASP6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000171)	6	619	-		Hepatocellular(203;0.217)	181					Q9BQE7	Nonsense_Mutation	SNP	ENST00000265164.2	37	c.541C>T	CCDS3684.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609114	0.87258	.	.	ENSG00000138794	ENST00000352981;ENST00000265164	.	.	.	5.57	0.444	0.16592	.	23.347700	0.00166	N	0.000000	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	3.9621	0.09415	0.0737:0.205:0.2361:0.4853	.	.	.	.	X	92;181	.	ENSP00000265164:Q181X	Q	-	1	0	CASP6	110831557	0.000000	0.05858	0.000000	0.03702	0.747000	0.42532	0.347000	0.20014	0.030000	0.15379	0.650000	0.86243	CAG		0.488	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254866.1	NM_001226		24	84	0	0	0	0	24	84				
DCHS2	54798	broad.mit.edu	37	4	155256201	155256201	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:155256201C>T	ENST00000357232.4	-	8	1034	c.1035G>A	c.(1033-1035)ttG>ttA	p.L345L	DCHS2_ENST00000339452.1_Silent_p.L844L|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	345	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGAGACCATCAACGAAAGTG	0.408																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(1033-1035)TTG>TTA		dachsous 2 isoform 1							99.0	103.0	102.0					4																	155256201		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155256201C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1035G>A	4.37:g.155256201C>T						DCHS2_uc003inx.2_Silent_p.L844L	p.L345L	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	8	1035	-	all_hematologic(180;0.208)	Renal(120;0.0854)	345			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.1035G>A	CCDS3785.1																																																																																				0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		25	90	0	0	0	0	25	90				
SNX25	83891	broad.mit.edu	37	4	186185722	186185722	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:186185722C>T	ENST00000504273.1	+	4	664	c.370C>T	c.(370-372)Ctc>Ttc	p.L124F	SNX25_ENST00000264694.8_Missense_Mutation_p.L124F			Q9H3E2	SNX25_HUMAN	sorting nexin 25	124	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				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)		TGTGCAGTCTCTCAGCTTACG	0.403																																						uc003ixh.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(370-372)CTC>TTC		sorting nexin 25							168.0	157.0	161.0					4																	186185722		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186185722C>T	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.370C>T	4.37:g.186185722C>T	ENSP00000426255:p.Leu124Phe						p.L124F	NM_031953	NP_114159	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)	4	559	+		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)	124			PXA.		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.370C>T	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	C	8.312	0.822435	0.16678	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.09723	2.95;2.95	5.17	4.33	0.51752	Phox-associated domain (2);	0.229992	0.37437	N	0.002082	T	0.11281	0.0275	L	0.38175	1.15	0.33679	D	0.611834	B	0.06786	0.001	B	0.08055	0.003	T	0.05517	-1.0880	10	0.66056	D	0.02	-10.3368	15.5535	0.76173	0.0:0.7229:0.277:0.0	.	124	Q9H3E2	SNX25_HUMAN	F	124	ENSP00000426255:L124F;ENSP00000264694:L124F	ENSP00000264694:L124F	L	+	1	0	SNX25	186422716	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.902000	0.56310	1.420000	0.47138	-0.203000	0.12734	CTC		0.403	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		43	93	0	0	0	0	43	93				
PRDM9	56979	broad.mit.edu	37	5	23526395	23526395	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:23526395C>G	ENST00000296682.3	+	11	1380	c.1198C>G	c.(1198-1200)Cag>Gag	p.Q400E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	400					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTTTTCAAGTCAGAAATTTCT	0.473										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1198-1200)CAG>GAG		PR domain containing 9							132.0	125.0	127.0					5																	23526395		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526395C>G	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1198C>G	5.37:g.23526395C>G	ENSP00000296682:p.Gln400Glu	HNSCC(3;0.000094)					p.Q400E	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1380	+			400			C2H2-type 1.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1198C>G	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	6.815	0.519404	0.13005	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.07688	3.17	2.75	0.862	0.19056	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.547037	0.13841	N	0.359007	T	0.07863	0.0197	L	0.42245	1.32	0.09310	N	1	P	0.46656	0.882	B	0.43701	0.428	T	0.24693	-1.0153	10	0.49607	T	0.09	-0.4627	4.067	0.09864	0.0:0.6099:0.2438:0.1463	.	400	Q9NQV7	PRDM9_HUMAN	E	400;194	ENSP00000296682:Q400E	ENSP00000253473:Q194E	Q	+	1	0	PRDM9	23562152	0.118000	0.22208	0.842000	0.33263	0.026000	0.11368	-0.542000	0.06091	0.194000	0.20326	-0.362000	0.07510	CAG		0.473	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		34	203	0	0	0	0	34	203				
ADAMTS12	81792	broad.mit.edu	37	5	33649669	33649669	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:33649669G>A	ENST00000504830.1	-	8	1659	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R442C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	442	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCAAGAAGCGGGTGATGTAC	0.532										HNSCC(64;0.19)																												uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1324-1326)CGC>TGC		ADAM metallopeptidase with thrombospondin type 1							143.0	118.0	126.0					5																	33649669		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33649669G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1324C>T	5.37:g.33649669G>A	ENSP00000422554:p.Arg442Cys	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.R442C	p.R442C	NM_030955	NP_112217	P58397	ATS12_HUMAN			8	1487	-			442			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1324C>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	34	5.325994	0.95708	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.03580	3.88;3.88	5.73	5.73	0.89815	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.01839	-1.1263	10	0.87932	D	0	.	19.907	0.97012	0.0:0.0:1.0:0.0	.	442;442	P58397-3;P58397	.;ATS12_HUMAN	C	442	ENSP00000422554:R442C;ENSP00000344847:R442C	ENSP00000344847:R442C	R	-	1	0	ADAMTS12	33685426	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.874000	0.87199	2.712000	0.92718	0.549000	0.68633	CGC		0.532	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		9	132	0	0	0	0	9	132				
NIPBL	25836	broad.mit.edu	37	5	36985741	36985741	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:36985741A>G	ENST00000282516.8	+	10	2958	c.2459A>G	c.(2458-2460)aAt>aGt	p.N820S	NIPBL_ENST00000448238.2_Missense_Mutation_p.N820S|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	820					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GACCATGATAATAAACAAAAA	0.438																																						uc003jkl.3		NA																	0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(2458-2460)AAT>AGT		delangin isoform A							67.0	66.0	66.0					5																	36985741		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36985741A>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2459A>G	5.37:g.36985741A>G	ENSP00000282516:p.Asn820Ser					NIPBL_uc003jkk.3_Missense_Mutation_p.N820S|NIPBL_uc003jkm.1_Missense_Mutation_p.N699S	p.N820S	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	2958	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		820					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.2459A>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	0.832	-0.745078	0.03065	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.92647	-3.08;-3.08	5.99	-0.896	0.10557	.	0.596414	0.19538	N	0.111878	T	0.80014	0.4546	N	0.12182	0.205	0.19300	N	0.999973	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.62224	-0.6899	10	0.07325	T	0.83	-1.0918	12.345	0.55116	0.586:0.0:0.414:0.0	.	820;820	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	S	820	ENSP00000282516:N820S;ENSP00000406266:N820S	ENSP00000282516:N820S	N	+	2	0	NIPBL	37021498	1.000000	0.71417	0.952000	0.39060	0.739000	0.42172	0.790000	0.26900	-0.101000	0.12219	-0.242000	0.12053	AAT		0.438	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		6	129	0	0	0	0	6	129				
DAB2	1601	broad.mit.edu	37	5	39392478	39392478	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:39392478C>T	ENST00000320816.6	-	4	786	c.319G>A	c.(319-321)Gag>Aag	p.E107K	DAB2_ENST00000339788.6_Missense_Mutation_p.E107K|DAB2_ENST00000509337.1_Missense_Mutation_p.E107K|DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000545653.1_Missense_Mutation_p.E107K	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	107	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CCAGTTTTCTCATCAATTATT	0.463																																						uc003jlx.2		NA																	0				kidney(2)|skin(1)	3						c.(319-321)GAG>AAG		disabled homolog 2							83.0	88.0	87.0					5																	39392478		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39392478C>T	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.319G>A	5.37:g.39392478C>T	ENSP00000313391:p.Glu107Lys					DAB2_uc003jlw.2_Missense_Mutation_p.E107K	p.E107K	NM_001343	NP_001334	P98082	DAB2_HUMAN	Epithelial(62;0.137)		4	850	-	all_lung(31;0.000197)		107			PID.		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.319G>A	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	36	5.598919	0.96614	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.71	5.71	0.89125	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.80031	0.4549	M	0.70595	2.14	0.80722	D	1	D;D	0.76494	0.978;0.999	D;D	0.87578	0.995;0.998	T	0.80991	-0.1135	10	0.87932	D	0	-17.7663	19.8677	0.96824	0.0:1.0:0.0:0.0	.	107;107	P98082;P98082-3	DAB2_HUMAN;.	K	107	ENSP00000313391:E107K;ENSP00000345508:E107K;ENSP00000439919:E107K;ENSP00000426245:E107K	ENSP00000313391:E107K	E	-	1	0	DAB2	39428235	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.411000	0.80078	2.709000	0.92574	0.655000	0.94253	GAG		0.463	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		21	118	0	0	0	0	21	118				
PDE4D	5144	broad.mit.edu	37	5	58285677	58285677	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:58285677C>T	ENST00000340635.6	-	10	1532	c.1357G>A	c.(1357-1359)Gac>Aac	p.D453N	PDE4D_ENST00000502484.2_Missense_Mutation_p.D392N|PDE4D_ENST00000503258.1_Missense_Mutation_p.D323N|PDE4D_ENST00000546160.1_Missense_Mutation_p.D392N|PDE4D_ENST00000405755.2_Missense_Mutation_p.D331N|PDE4D_ENST00000358923.6_Missense_Mutation_p.D151N|PDE4D_ENST00000317118.8_Missense_Mutation_p.D162N|PDE4D_ENST00000360047.5_Missense_Mutation_p.D317N|PDE4D_ENST00000507116.1_Missense_Mutation_p.D389N	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	453					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TGGTAATGGTCTTCGAGAGTC	0.343																																						uc003jsa.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1357-1359)GAC>AAC		phosphodiesterase 4D isoform 1	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						121.0	121.0	121.0					5																	58285677		1911	4122	6033	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58285677C>T		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1357G>A	5.37:g.58285677C>T	ENSP00000345502:p.Asp453Asn					PDE4D_uc003jrx.2_Missense_Mutation_p.D317N|PDE4D_uc003jry.2_Missense_Mutation_p.D151N|PDE4D_uc003jrz.2_Missense_Mutation_p.D389N|PDE4D_uc003jsb.2_Missense_Mutation_p.D392N|PDE4D_uc003jrt.2_Missense_Mutation_p.D151N|PDE4D_uc003jru.2_Missense_Mutation_p.D229N|PDE4D_uc003jrv.2_Missense_Mutation_p.D323N|PDE4D_uc003jrw.2_Missense_Mutation_p.D331N|PDE4D_uc003jrs.2_Missense_Mutation_p.D162N	p.D453N	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	10	1529	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	453					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.1357G>A	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965467	0.92855	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	T;T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.5	5.5	0.81552	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.82637	0.5080	M	0.77616	2.38	0.80722	D	1	D;D;D;P;P;D;B;B	0.71674	0.997;0.998;0.997;0.804;0.804;0.997;0.059;0.043	D;D;D;P;P;D;B;B	0.77004	0.989;0.983;0.989;0.493;0.493;0.989;0.039;0.023	T	0.81667	-0.0829	10	0.45353	T	0.12	.	19.6014	0.95563	0.0:1.0:0.0:0.0	.	392;453;389;316;331;323;228;162	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	N	453;322;317;389;151;162;323;331;392;392;151	ENSP00000345502:D453N;ENSP00000353152:D317N;ENSP00000424852:D389N;ENSP00000351800:D151N;ENSP00000321739:D162N;ENSP00000425605:D323N;ENSP00000384806:D331N;ENSP00000423094:D392N;ENSP00000442734:D392N;ENSP00000421013:D151N	ENSP00000321739:D162N	D	-	1	0	PDE4D	58321434	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.275000	0.78548	2.854000	0.98071	0.655000	0.94253	GAC		0.343	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			17	72	0	0	0	0	17	72				
MEF2C	4208	broad.mit.edu	37	5	88018491	88018491	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:88018491C>T	ENST00000437473.2	-	11	1769	c.1352G>A	c.(1351-1353)aGa>aAa	p.R451K	MEF2C_ENST00000508569.1_Missense_Mutation_p.R411K|MEF2C_ENST00000340208.5_Missense_Mutation_p.R461K|MEF2C_ENST00000424173.2_Missense_Mutation_p.R441K|MEF2C_ENST00000510942.1_Missense_Mutation_p.R443K|MEF2C_ENST00000514015.1_Missense_Mutation_p.R419K|MEF2C_ENST00000506554.1_3'UTR|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000504921.2_Missense_Mutation_p.R451K|MEF2C_ENST00000539796.1_Missense_Mutation_p.R395K|MEF2C_ENST00000514028.1_Missense_Mutation_p.R451K	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	451					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CGGCGAAGGTCTGGTGAGTCC	0.498										HNSCC(66;0.2)																												uc003kjj.2		NA																	0				lung(3)|breast(2)|ovary(1)|large_intestine(1)	7						c.(1351-1353)AGA>AAA		myocyte enhancer factor 2C isoform 1							167.0	173.0	171.0					5																	88018491		1989	4157	6146	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88018491C>T	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.1352G>A	5.37:g.88018491C>T	ENSP00000396219:p.Arg451Lys	HNSCC(66;0.2)				MEF2C_uc003kji.2_Missense_Mutation_p.R443K|MEF2C_uc003kjk.2_Missense_Mutation_p.R451K|MEF2C_uc003kjm.2_Missense_Mutation_p.R441K|MEF2C_uc003kjl.2_Missense_Mutation_p.R461K	p.R451K	NM_002397	NP_002388	Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	11	2025	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	451					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.1352G>A	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140475	0.77775	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000508569;ENST00000514015;ENST00000539796	T;T;T;T;T;T;T;T;T	0.78707	-0.25;-0.21;-0.31;-0.18;-0.18;-0.19;-1.04;-1.2;0.19	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.87269	0.6135	M	0.64404	1.975	0.58432	D	0.999998	P;D;D;D	0.76494	0.902;0.998;0.974;0.999	B;D;D;D	0.85130	0.441;0.997;0.933;0.997	D	0.87677	0.2545	10	0.72032	D	0.01	-5.9454	19.3051	0.94158	0.0:1.0:0.0:0.0	.	441;461;451;443	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	K	461;441;451;451;451;443;411;419;395	ENSP00000340874:R461K;ENSP00000389610:R441K;ENSP00000421925:R451K;ENSP00000426665:R451K;ENSP00000396219:R451K;ENSP00000422390:R443K;ENSP00000423597:R411K;ENSP00000424606:R419K;ENSP00000441153:R395K	ENSP00000340874:R461K	R	-	2	0	MEF2C	88054247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.723000	0.93209	0.655000	0.94253	AGA		0.498	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		66	251	0	0	0	0	66	251				
SEMA6A	57556	broad.mit.edu	37	5	115783452	115783452	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:115783452G>A	ENST00000343348.6	-	19	2737	c.1950C>T	c.(1948-1950)ctC>ctT	p.L650L	CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000503865.1_Silent_p.L29L|SEMA6A_ENST00000513137.1_Silent_p.L77L|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.L650L|SEMA6A_ENST00000257414.8_Silent_p.L667L|SEMA6A_ENST00000282394.6_Silent_p.L127L|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	650					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CAATGGCCAAGAGGGTGACGG	0.552																																						uc010jck.2		NA																	0				ovary(2)	2						c.(1948-1950)CTC>CTT		sema domain, transmembrane domain (TM), and							45.0	51.0	49.0					5																	115783452		2090	4198	6288	SO:0001819	synonymous_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115783452G>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1950C>T	5.37:g.115783452G>A						SEMA6A_uc003krx.3_Silent_p.L667L|SEMA6A_uc011cwe.1_Silent_p.L29L|SEMA6A_uc003krv.3_Silent_p.L77L|SEMA6A_uc003krw.3_Silent_p.L127L|SEMA6A_uc010jcj.2_Silent_p.L194L	p.L650L	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	2659	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	650			Helical; (Potential).		Q9P2H9	Silent	SNP	ENST00000343348.6	37	c.1950C>T	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.868639	0.32977	.	.	ENSG00000092421	ENST00000515129	.	.	.	4.71	-0.966	0.10320	.	.	.	.	.	T	0.51618	0.1685	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41016	-0.9532	4	.	.	.	.	6.8551	0.24036	0.3028:0.4691:0.2281:0.0	.	.	.	.	F	165	.	.	S	-	2	0	SEMA6A	115811351	0.025000	0.19082	0.287000	0.24848	0.985000	0.73830	0.263000	0.18478	-0.202000	0.10268	-0.172000	0.13284	TCT		0.552	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		5	29	0	0	0	0	5	29				
ADAMTS19	171019	broad.mit.edu	37	5	128862009	128862009	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:128862009G>A	ENST00000274487.4	+	4	1073	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	310						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAAAATAGCAGAAAGTGGAAG	0.358																																						uc003kvb.1		NA																	0				ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(928-930)GAA>AAA		ADAM metallopeptidase with thrombospondin type 1							73.0	69.0	70.0					5																	128862009		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128862009G>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.928G>A	5.37:g.128862009G>A	ENSP00000274487:p.Glu310Lys					ADAMTS19_uc003kvc.1_RNA	p.E310K	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	4	928	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	310						Missense_Mutation	SNP	ENST00000274487.4	37	c.928G>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416859	0.62511	.	.	ENSG00000145808	ENST00000274487	T	0.65916	-0.18	4.45	4.45	0.53987	.	0.069139	0.53938	D	0.000045	T	0.46249	0.1383	N	0.19112	0.55	0.39210	D	0.963296	B	0.31435	0.323	B	0.24701	0.055	T	0.43956	-0.9359	9	.	.	.	.	18.413	0.90558	0.0:0.0:1.0:0.0	.	310	Q8TE59	ATS19_HUMAN	K	310	ENSP00000274487:E310K	.	E	+	1	0	ADAMTS19	128889908	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	7.073000	0.76784	2.765000	0.95021	0.557000	0.71058	GAA		0.358	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		18	57	0	0	0	0	18	57				
HSPA4	3308	broad.mit.edu	37	5	132400683	132400683	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:132400683C>G	ENST00000304858.2	+	2	408	c.119C>G	c.(118-120)tCt>tGt	p.S40C		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	40					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTTGCATTTCTTTTGGTCCT	0.343																																					Colon(114;1299 1588 6063 12302 48757)	uc003kyj.2		NA																	0				lung(1)|breast(1)	2						c.(118-120)TCT>TGT		heat shock 70kDa protein 4							191.0	192.0	191.0					5																	132400683		2203	4300	6503	SO:0001583	missense	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132400683C>G	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.119C>G	5.37:g.132400683C>G	ENSP00000302961:p.Ser40Cys						p.S40C	NM_002154	NP_002145	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	400	+			40					O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	c.119C>G	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813955	0.90790	.	.	ENSG00000170606	ENST00000304858;ENST00000321956;ENST00000537974	T	0.01126	5.3	5.69	5.69	0.88448	.	0.174340	0.52532	D	0.000064	T	0.04998	0.0134	M	0.73372	2.23	0.80722	D	1	P	0.48694	0.914	P	0.53450	0.726	T	0.46978	-0.9152	10	0.37606	T	0.19	-2.9863	19.8209	0.96592	0.0:1.0:0.0:0.0	.	40	P34932	HSP74_HUMAN	C	40	ENSP00000302961:S40C	ENSP00000302961:S40C	S	+	2	0	HSPA4	132428582	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.473000	0.81007	2.688000	0.91661	0.650000	0.86243	TCT		0.343	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		33	161	0	0	0	0	33	161				
PCDHA1	56147	broad.mit.edu	37	5	140165886	140165886	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:140165886C>A	ENST00000504120.2	+	1	11	c.11C>A	c.(10-12)tCt>tAt	p.S4Y	PCDHA1_ENST00000378133.3_Missense_Mutation_p.S4Y|PCDHA1_ENST00000394633.3_Missense_Mutation_p.S4Y	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	4					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGTGTTTTCTAGGAGAGGG	0.502																																						uc003lhb.2		NA																	0				skin(1)	1						c.(10-12)TCT>TAT		protocadherin alpha 1 isoform 1 precursor							83.0	100.0	95.0					5																	140165886		2202	4300	6502	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140165886C>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.11C>A	5.37:g.140165886C>A	ENSP00000420840:p.Ser4Tyr					PCDHA1_uc003lha.2_Missense_Mutation_p.S4Y|PCDHA1_uc003lgz.2_Missense_Mutation_p.S4Y	p.S4Y	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	11	+			4					O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.11C>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	10.30	1.312194	0.23908	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.55052	0.66;0.54;0.69	4.6	2.65	0.31530	.	1.032720	0.07741	U	0.946989	T	0.35799	0.0944	L	0.31804	0.96	0.09310	N	1	B;B;B	0.22983	0.047;0.032;0.078	B;B;B	0.27608	0.023;0.051;0.081	T	0.33394	-0.9870	10	0.02654	T	1	.	6.4325	0.21805	0.1485:0.6841:0.0:0.1674	.	4;4;4	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	Y	4	ENSP00000420840:S4Y;ENSP00000378129:S4Y;ENSP00000367373:S4Y	ENSP00000367373:S4Y	S	+	2	0	PCDHA1	140146070	0.000000	0.05858	0.205000	0.23548	0.054000	0.15201	-0.088000	0.11198	1.077000	0.40990	0.650000	0.86243	TCT		0.502	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		47	225	1	0	2.76e-25	3.1e-25	47	225				
PCDH12	51294	broad.mit.edu	37	5	141336011	141336011	+	Missense_Mutation	SNP	G	G	A	rs542402907	byFrequency	TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:141336011G>A	ENST00000231484.3	-	1	2616	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	469	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTTCCCGCGTGGAGACTTC	0.478													G|||	6	0.00119808	0.0	0.0	5008	,	,		23858	0.0		0.001	False		,,,				2504	0.0051					uc003llx.2		NA																	0				ovary(3)	3						c.(1405-1407)ACG>ATG		protocadherin 12 precursor							147.0	137.0	140.0					5																	141336011		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336011G>A	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1406C>T	5.37:g.141336011G>A	ENSP00000231484:p.Thr469Met						p.T469M	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2617	-		all_hematologic(541;0.0999)	469			Extracellular (Potential).|Cadherin 5.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.1406C>T	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.357201	0.24598	.	.	ENSG00000113555	ENST00000231484	T	0.50813	0.73	4.92	3.97	0.46021	Cadherin (4);Cadherin-like (1);	0.274610	0.37178	N	0.002216	T	0.33469	0.0864	N	0.19112	0.55	0.33924	D	0.641192	D	0.59767	0.986	P	0.46940	0.532	T	0.48917	-0.8992	10	0.72032	D	0.01	.	5.8335	0.18594	0.2063:0.0:0.7937:0.0	.	469	Q9NPG4	PCD12_HUMAN	M	469	ENSP00000231484:T469M	ENSP00000231484:T469M	T	-	2	0	PCDH12	141316195	1.000000	0.71417	0.998000	0.56505	0.465000	0.32709	5.307000	0.65762	2.558000	0.86282	0.561000	0.74099	ACG		0.478	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		35	143	0	0	0	0	35	143				
SH3RF2	153769	broad.mit.edu	37	5	145379752	145379752	+	Silent	SNP	C	C	T	rs137960488		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:145379752C>T	ENST00000511217.1	+	2	562	c.510C>T	c.(508-510)atC>atT	p.I170I	SH3RF2_ENST00000359120.4_Silent_p.I170I			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	170	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAATGGCATCAGCGGGAACT	0.567																																						uc003lnt.2		NA																	0				ovary(1)|skin(1)	2						c.(508-510)ATC>ATT		SH3 domain containing ring finger 2		C		0,4406		0,0,2203	55.0	58.0	57.0		510	6.2	1.0	5	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SH3RF2	NM_152550.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		170/730	145379752	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145379752C>T	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.510C>T	5.37:g.145379752C>T						SH3RF2_uc011dbl.1_Silent_p.I170I	p.I170I	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	748	+			170			SH3 1.		A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	c.510C>T	CCDS4280.1																																																																																				0.567	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		19	81	0	0	0	0	19	81				
GABRG2	2566	broad.mit.edu	37	5	161524718	161524718	+	Silent	SNP	C	C	T	rs562384157	byFrequency	TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:161524718C>T	ENST00000361925.4	+	4	622	c.402C>T	c.(400-402)gtC>gtT	p.V134V	GABRG2_ENST00000414552.2_Silent_p.V134V|GABRG2_ENST00000356592.3_Silent_p.V134V|GABRG2_ENST00000393933.4_Silent_p.V39V			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	134					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCATTAAAGTCCTCCGATTGA	0.378																																						uc003lyz.3		NA																	0				ovary(4)|skin(1)	5						c.(400-402)GTC>GTT		gamma-aminobutyric acid A receptor, gamma 2							99.0	100.0	100.0					5																	161524718		2203	4300	6503	SO:0001819	synonymous_variant	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161524718C>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.402C>T	5.37:g.161524718C>T						GABRG2_uc010jjc.2_Silent_p.V134V|GABRG2_uc003lyy.3_Silent_p.V134V|GABRG2_uc011dej.1_Silent_p.V39V	p.V134V	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	4	760	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	134			Extracellular (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	ENST00000361925.4	37	c.402C>T	CCDS4358.1																																																																																				0.378	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			30	128	0	0	0	0	30	128				
SERPINB6	5269	broad.mit.edu	37	6	2948610	2948610	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:2948610G>A	ENST00000380520.1	-	6	3047	c.1053C>T	c.(1051-1053)gcC>gcT	p.A351A	SERPINB6_ENST00000380524.1_Silent_p.A351A|SERPINB6_ENST00000380529.1_Silent_p.A351A|SERPINB6_ENST00000380546.3_Silent_p.A351A|SERPINB6_ENST00000335686.5_Silent_p.A351A|SERPINB6_ENST00000380539.1_Silent_p.A351A			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	351					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	AGGGGTGGTCGGCGCAGAAGC	0.587																																						uc003muk.2		NA																	0					0						c.(1051-1053)GCC>GCT		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)						56.0	57.0	56.0					6																	2948610		2203	4300	6503	SO:0001819	synonymous_variant	5269				regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2948610G>A	Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"""Serine (or cysteine) peptidase inhibitors"""	8950	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase"""	173321	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6"", ""deafness, autosomal recessive 91"""	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.1053C>T	6.37:g.2948610G>A						SERPINB6_uc003mui.2_Silent_p.A234A|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Silent_p.A351A|SERPINB6_uc003mum.2_Silent_p.A351A|SERPINB6_uc003mun.2_Silent_p.A351A|SERPINB6_uc003muo.2_Silent_p.A351A	p.A351A	NM_004568	NP_004559	P35237	SPB6_HUMAN			6	3048	-	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	351					B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Silent	SNP	ENST00000380520.1	37	c.1053C>T	CCDS4479.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330136	0.41297	.	.	ENSG00000124570	ENST00000380500	.	.	.	5.01	-10.0	0.00425	.	.	.	.	.	T	0.24198	0.0586	.	.	.	0.49130	D	0.999753	.	.	.	.	.	.	T	0.45731	-0.9241	4	.	.	.	.	5.5583	0.17129	0.628:0.0794:0.1327:0.1599	.	.	.	.	L	156	.	.	P	-	2	0	SERPINB6	2893609	0.000000	0.05858	0.000000	0.03702	0.930000	0.56654	-4.379000	0.00243	-2.387000	0.00589	0.551000	0.68910	CCG		0.587	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043422.1			13	58	0	0	0	0	13	58				
HIST1H2BK	85236	broad.mit.edu	37	6	27114238	27114238	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:27114238C>T	ENST00000356950.1	-	1	339	c.340G>A	c.(340-342)Gag>Aag	p.E114K	MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.E114K|HIST1H2AH_ENST00000377459.1_5'Flank			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	114					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TTGGTGCCCTCGGACACGGCG	0.582																																						uc003nix.1		NA																	0					0						c.(340-342)GAG>AAG		histone cluster 1, H2bk							65.0	72.0	70.0					6																	27114238		2202	4293	6495	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114238C>T	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.340G>A	6.37:g.27114238C>T	ENSP00000349430:p.Glu114Lys					HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank	p.E114K	NM_080593	NP_542160	O60814	H2B1K_HUMAN			1	382	-			114					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.340G>A	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	.	17.32	3.360214	0.61403	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.48201	0.82;0.82	4.05	4.05	0.47172	Histone-fold (2);	0.000000	0.38492	U	0.001662	T	0.33904	0.0879	M	0.79805	2.47	0.45250	D	0.998259	P	0.47106	0.89	B	0.32980	0.156	T	0.51756	-0.8665	10	0.52906	T	0.07	.	14.5252	0.67884	0.0:1.0:0.0:0.0	.	114	O60814	H2B1K_HUMAN	K	114	ENSP00000380100:E114K;ENSP00000349430:E114K	ENSP00000349430:E114K	E	-	1	0	HIST1H2BK	27222217	1.000000	0.71417	0.983000	0.44433	0.653000	0.38743	5.280000	0.65603	2.196000	0.70406	0.650000	0.86243	GAG		0.582	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		28	125	0	0	0	0	28	125				
GABBR1	2550	broad.mit.edu	37	6	29591083	29591083	+	Splice_Site	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:29591083G>A	ENST00000377034.4	-	8	1297	c.962C>T	c.(961-963)tCg>tTg	p.S321L	GABBR1_ENST00000377016.4_Splice_Site_p.S259L|GABBR1_ENST00000355973.3_Splice_Site_p.S204L|GABBR1_ENST00000376977.3_Splice_Site_p.S321L|GABBR1_ENST00000377012.4_Splice_Site_p.S204L	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	321					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	CCTCCTCACCGAAGTGAAGAC	0.517																																						uc003nmt.3		NA																	0				ovary(5)|liver(1)|skin(1)	7						c.(961-963)TCG>TTG		gamma-aminobutyric acid (GABA) B receptor 1	Baclofen(DB00181)|Progabide(DB00837)						86.0	79.0	82.0					6																	29591083		2203	4300	6503	SO:0001630	splice_region_variant	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29591083G>A	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.963+1C>T	6.37:g.29591083G>A						GABBR1_uc003nmp.3_Missense_Mutation_p.S204L|GABBR1_uc003nms.3_Missense_Mutation_p.S204L|GABBR1_uc003nmu.3_Missense_Mutation_p.S259L|GABBR1_uc011dlr.1_Missense_Mutation_p.S144L|GABBR1_uc011dls.1_Missense_Mutation_p.S321L	p.S321L	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN			8	1298	-			321			Extracellular (Potential).		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.962C>T	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	-	22.5	4.297533	0.81025	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	4.64	4.64	0.57946	Extracellular ligand-binding receptor (1);	0.158609	0.44097	U	0.000483	T	0.78387	0.4275	L	0.35288	1.05	0.80722	D	1	P;D;D;D	0.54601	0.531;0.959;0.967;0.958	B;P;P;P	0.52159	0.092;0.587;0.691;0.617	T	0.79102	-0.1941	10	0.38643	T	0.18	-30.9179	13.0504	0.58952	0.0:0.0:1.0:0.0	.	321;259;321;204	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	L	204;321;259;204;321	ENSP00000348248:S204L;ENSP00000366176:S321L;ENSP00000366215:S259L;ENSP00000366211:S204L;ENSP00000366233:S321L	ENSP00000348248:S204L	S	-	2	0	GABBR1	29699062	1.000000	0.71417	0.993000	0.49108	0.941000	0.58515	9.154000	0.94694	2.149000	0.67028	0.466000	0.42574	TCG		0.517	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3		Missense_Mutation	13	50	0	0	0	0	13	50				
MDFI	4188	broad.mit.edu	37	6	41621181	41621181	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:41621181C>T	ENST00000373050.4	+	4	613	c.426C>T	c.(424-426)tgC>tgT	p.C142C				Q99750	MDFI_HUMAN	MyoD family inhibitor	203					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			GCTGCTGCTGCTGTGGCTCTG	0.657																																						uc003oqp.3		NA																	0					0						c.(607-609)TGC>TGT		MyoD family inhibitor							108.0	87.0	94.0					6																	41621181		2203	4300	6503	SO:0001819	synonymous_variant	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621181C>T	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.426C>T	6.37:g.41621181C>T						MDFI_uc003oqq.3_Silent_p.C203C|MDFI_uc010jxn.2_Silent_p.C203C	p.C203C	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		6	938	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		203			Cys-rich.			Silent	SNP	ENST00000373050.4	37	c.609C>T																																																																																					0.657	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		3	105	0	0	0	0	3	105				
FRS3	10817	broad.mit.edu	37	6	41738550	41738550	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:41738550C>T	ENST00000373018.3	-	7	1537	c.1286G>A	c.(1285-1287)cGc>cAc	p.R429H	FRS3_ENST00000259748.2_Missense_Mutation_p.R429H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	429					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCCTTAGGGCGGTCTCCACC	0.637																																						uc003orc.1		NA																	0				ovary(2)	2						c.(1285-1287)CGC>CAC		fibroblast growth factor receptor substrate 3							24.0	31.0	29.0					6																	41738550		2201	4298	6499	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738550C>T	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1286G>A	6.37:g.41738550C>T	ENSP00000362109:p.Arg429His						p.R429H	NM_006653	NP_006644	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1530	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		429					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.1286G>A	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122752	0.37436	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.23147	1.92;1.92	5.76	0.19	0.15125	.	0.873331	0.09971	N	0.732260	T	0.06690	0.0171	L	0.36672	1.1	0.26602	N	0.973008	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	10	0.44086	T	0.13	-16.879	5.7356	0.18065	0.0:0.4486:0.1962:0.3551	.	429	O43559	FRS3_HUMAN	H	429	ENSP00000362109:R429H;ENSP00000259748:R429H	ENSP00000259748:R429H	R	-	2	0	FRS3	41846528	0.000000	0.05858	0.967000	0.41034	0.995000	0.86356	-0.840000	0.04363	0.274000	0.22072	0.655000	0.94253	CGC		0.637	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		6	74	0	0	0	0	6	74				
GPR111	222611	broad.mit.edu	37	6	47649665	47649665	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:47649665C>G	ENST00000296862.1	+	6	1370	c.1370C>G	c.(1369-1371)tCt>tGt	p.S457C	GPR111_ENST00000507065.1_Missense_Mutation_p.S389C|GPR111_ENST00000398742.2_Missense_Mutation_p.S389C			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	457					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTGGGCATTTCTATTTGCAGC	0.428																																						uc010jzj.1		NA																	0				skin(1)	1						c.(1369-1371)TCT>TGT		G-protein coupled receptor 111							161.0	148.0	152.0					6																	47649665		1961	4139	6100	SO:0001583	missense	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47649665C>G	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1370C>G	6.37:g.47649665C>G	ENSP00000296862:p.Ser457Cys					GPR111_uc010jzk.1_Missense_Mutation_p.S389C|GPR111_uc003oyy.2_RNA	p.S457C	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN			6	1371	+			457			Helical; Name=1; (Potential).		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37	c.1370C>G		.	.	.	.	.	.	.	.	.	.	C	17.28	3.348553	0.61183	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.73681	-0.77;-0.77;-0.77	5.43	5.43	0.79202	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000011	D	0.88983	0.6586	M	0.93150	3.385	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91497	0.5216	10	0.87932	D	0	.	18.2084	0.89863	0.0:1.0:0.0:0.0	.	389;457	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	C	389;457;389	ENSP00000422934:S389C;ENSP00000296862:S457C;ENSP00000381727:S389C	ENSP00000296862:S457C	S	+	2	0	GPR111	47757624	1.000000	0.71417	0.988000	0.46212	0.367000	0.29736	7.791000	0.85805	2.544000	0.85801	0.591000	0.81541	TCT		0.428	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		60	187	0	0	0	0	60	187				
TBX18	9096	broad.mit.edu	37	6	85469990	85469990	+	Silent	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:85469990C>G	ENST00000369663.5	-	3	919	c.582G>C	c.(580-582)gtG>gtC	p.V194V	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Silent_p.V36V	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	194					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TTTTGTTGTCCACTGGTACAA	0.388																																						uc003pkl.1		NA																	0				ovary(2)|pancreas(2)|lung(1)	5						c.(580-582)GTG>GTC		T-box 18							103.0	92.0	96.0					6																	85469990		2203	4300	6503	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85469990C>G	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.582G>C	6.37:g.85469990C>G						TBX18_uc010kbq.1_Silent_p.V36V	p.V194V	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	3	582	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	194			T-box.		A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.582G>C	CCDS34495.1																																																																																				0.388	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		11	69	0	0	0	0	11	69				
MCM9	254394	broad.mit.edu	37	6	119245170	119245170	+	Missense_Mutation	SNP	G	G	A	rs569482138		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:119245170G>A	ENST00000316316.6	-	3	713	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	MCM9_ENST00000316068.3_Missense_Mutation_p.R143W	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	143					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		ATGTAATCCCGCTCAAACTCC	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19876	0.0		0.0	False		,,,				2504	0.001					uc003pyh.2		NA																	0				ovary(1)	1						c.(427-429)CGG>TGG		minichromosome maintenance complex component 9							254.0	250.0	252.0					6																	119245170		2203	4300	6503	SO:0001583	missense	254394				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr6:119245170G>A	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.427C>T	6.37:g.119245170G>A	ENSP00000314505:p.Arg143Trp						p.R143W	NM_153255	NP_694987	Q9NXL9	MCM9_HUMAN		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)	3	690	-		all_cancers(87;0.122)|all_epithelial(87;0.179)	143					B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	c.427C>T	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074613	0.94000	.	.	ENSG00000111877	ENST00000316316;ENST00000316068;ENST00000425154	T;T;T	0.04406	3.63;3.63;3.63	5.78	5.78	0.91487	.	.	.	.	.	T	0.18467	0.0443	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	T	0.00726	-1.1592	9	0.66056	D	0.02	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	143	Q9NXL9-2	.	W	143	ENSP00000314505:R143W;ENSP00000312870:R143W;ENSP00000394776:R143W	ENSP00000312870:R143W	R	-	1	2	MCM9	119286869	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.235000	0.58666	2.724000	0.93272	0.563000	0.77884	CGG		0.468	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		5	350	0	0	0	0	5	350				
KIAA1244	57221	broad.mit.edu	37	6	138576900	138576900	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:138576900G>A	ENST00000251691.4	+	10	1264	c.1098G>A	c.(1096-1098)atG>atA	p.M366I		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCAAAATAATGAAAGAGGTGA	0.572																																						uc003qhu.2		NA																	0				ovary(1)|skin(1)	2						c.(1096-1098)ATG>ATA		brefeldin A-inhibited guanine							12.0	12.0	12.0					6																	138576900		2201	4293	6494	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138576900G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1098G>A	6.37:g.138576900G>A	ENSP00000251691:p.Met366Ile						p.M366I	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	10	1098	+	Breast(32;0.135)		366						Missense_Mutation	SNP	ENST00000251691.4	37	c.1098G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592765	0.86953	.	.	ENSG00000112379	ENST00000251691	T	0.03745	3.82	5.68	5.68	0.88126	.	0.088322	0.85682	D	0.000000	T	0.02193	0.0068	L	0.39898	1.24	0.80722	D	1	P	0.43788	0.817	B	0.33454	0.164	T	0.56177	-0.8022	10	0.56958	D	0.05	-29.6895	19.7964	0.96487	0.0:0.0:1.0:0.0	.	366	Q5TH69	BIG3_HUMAN	I	366	ENSP00000251691:M366I	ENSP00000251691:M366I	M	+	3	0	KIAA1244	138618593	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.624000	0.98398	2.702000	0.92279	0.655000	0.94253	ATG		0.572	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		5	8	0	0	0	0	5	8				
TTLL2	83887	broad.mit.edu	37	6	167754382	167754382	+	Missense_Mutation	SNP	C	C	T	rs571140155		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:167754382C>T	ENST00000239587.5	+	3	1082	c.994C>T	c.(994-996)Cgt>Tgt	p.R332C		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	332	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTCCTACCTTCGTAGCTGGGA	0.463																																						uc003qvs.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(994-996)CGT>TGT		tubulin tyrosine ligase-like family, member 2							171.0	179.0	176.0					6																	167754382		2203	4300	6503	SO:0001583	missense	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754382C>T	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.994C>T	6.37:g.167754382C>T	ENSP00000239587:p.Arg332Cys					TTLL2_uc011egr.1_RNA	p.R332C	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	1082	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	332			TTL.		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	c.994C>T	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335061	0.24253	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.06068	3.35	3.53	1.64	0.23874	.	0.286282	0.28057	N	0.016780	T	0.02848	0.0085	M	0.73598	2.24	0.09310	N	1	P	0.37015	0.578	B	0.32583	0.148	T	0.30563	-0.9974	10	0.72032	D	0.01	.	7.4747	0.27369	0.0:0.7342:0.1672:0.0987	.	332	Q9BWV7	TTLL2_HUMAN	C	332;259	ENSP00000239587:R332C	ENSP00000239587:R332C	R	+	1	0	TTLL2	167674372	0.015000	0.18098	0.000000	0.03702	0.709000	0.40893	2.234000	0.43035	0.264000	0.21851	0.491000	0.48974	CGT		0.463	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		81	256	0	0	0	0	81	256				
SDK1	221935	broad.mit.edu	37	7	4169596	4169596	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:4169596G>A	ENST00000404826.2	+	27	4135	c.3996G>A	c.(3994-3996)ggG>ggA	p.G1332G	SDK1_ENST00000389531.3_Silent_p.G1332G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1332	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCGTGCGAGGGAACCACACGC	0.652																																						uc003smx.2		NA																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(3994-3996)GGG>GGA		sidekick 1 precursor							59.0	55.0	57.0					7																	4169596		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4169596G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3996G>A	7.37:g.4169596G>A						SDK1_uc010kso.2_Silent_p.G608G|SDK1_uc003smy.2_5'UTR	p.G1332G	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	27	4135	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1332			Fibronectin type-III 7.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.3996G>A	CCDS34590.1																																																																																				0.652	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		25	72	0	0	0	0	25	72				
MPP6	51678	broad.mit.edu	37	7	24727123	24727123	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:24727123G>A	ENST00000222644.5	+	12	1763	c.1513G>A	c.(1513-1515)Gat>Aat	p.D505N	MPP6_ENST00000396475.2_Missense_Mutation_p.D505N|MPP6_ENST00000409761.1_Missense_Mutation_p.D393N			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CCACTATTTTGATTTGATCAT	0.378																																						uc003swx.2		NA																	0					0						c.(1513-1515)GAT>AAT		membrane protein, palmitoylated 6							124.0	132.0	129.0					7																	24727123		2203	4300	6503	SO:0001583	missense	51678				protein complex assembly		protein binding	g.chr7:24727123G>A	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.1513G>A	7.37:g.24727123G>A	ENSP00000222644:p.Asp505Asn					MPP6_uc003swy.2_Missense_Mutation_p.D505N|MPP6_uc010kur.2_Missense_Mutation_p.D173N	p.D505N	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN			13	1812	+			505			Guanylate kinase-like.		B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	c.1513G>A	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274562	0.95459	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475	T;T;T	0.24350	1.86;1.86;1.86	5.97	5.97	0.96955	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.64402	D	0.000015	T	0.60183	0.2249	M	0.86651	2.83	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.64411	-0.6414	10	0.87932	D	0	.	20.4251	0.99070	0.0:0.0:1.0:0.0	.	505	Q9NZW5	MPP6_HUMAN	N	505;393;505	ENSP00000222644:D505N;ENSP00000386262:D393N;ENSP00000379737:D505N	ENSP00000222644:D505N	D	+	1	0	MPP6	24693648	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	2.829000	0.97493	0.650000	0.86243	GAT		0.378	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			46	186	0	0	0	0	46	186				
HNRNPA2B1	3181	broad.mit.edu	37	7	26232925	26232925	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:26232925T>C	ENST00000354667.4	-	10	1114	c.946A>G	c.(946-948)Atg>Gtg	p.M316V	HNRNPA2B1_ENST00000476233.1_5'Flank|HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.M304V	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	316	Gly-rich.|Nuclear targeting sequence. {ECO:0000250}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CCACTCTTCATTGGACCGTAG	0.343			T	ETV1	prostate																																	uc003sxr.3		NA		Dom	yes		7	7p15	3181	T	heterogeneous nuclear ribonucleoprotein A2/B1			E	ETV1		prostate		0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(946-948)ATG>GTG		heterogeneous nuclear ribonucleoprotein A2/B1							114.0	110.0	112.0					7																	26232925		2203	4300	6503	SO:0001583	missense	3181				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding	g.chr7:26232925T>C	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.946A>G	7.37:g.26232925T>C	ENSP00000346694:p.Met316Val					HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.M304V	p.M316V	NM_031243	NP_112533	P22626	ROA2_HUMAN			10	1162	-			316			Gly-rich.|Nuclear targeting sequence (By similarity).		A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	ENST00000354667.4	37	c.946A>G	CCDS43557.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.154362	0.57259	.	.	ENSG00000122566	ENST00000354667;ENST00000356674	D;D	0.89050	-2.46;-2.46	5.98	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.87071	0.6086	M	0.70275	2.135	0.33971	D	0.646809	B;B	0.26635	0.135;0.155	B;B	0.23574	0.047;0.034	D	0.86886	0.2045	10	0.34782	T	0.22	.	11.8663	0.52495	0.0:0.0676:0.0:0.9324	.	304;316	P22626-2;P22626	.;ROA2_HUMAN	V	316;304	ENSP00000346694:M316V;ENSP00000349101:M304V	ENSP00000346694:M316V	M	-	1	0	HNRNPA2B1	26199450	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.881000	0.87252	1.109000	0.41680	0.529000	0.55759	ATG		0.343	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137		4	176	0	0	0	0	4	176				
CBX3	11335	broad.mit.edu	37	7	26251377	26251377	+	Splice_Site	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:26251377G>C	ENST00000337620.4	+	5	853		c.e5+1		CBX3_ENST00000396386.2_Splice_Site|CBX3_ENST00000409747.1_Splice_Site	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3						chromatin remodeling (GO:0006338)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome, centromeric region (GO:0000779)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nuclear pericentric heterochromatin (GO:0031618)|nucleus (GO:0005634)|spindle (GO:0005819)	enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)|identical protein binding (GO:0042802)|protein domain specific binding (GO:0019904)			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						TCATGAAATGGTGAGTATGCA	0.368																																						uc003sxt.2		NA																	0				ovary(1)	1						c.e5+1		chromobox homolog 3							68.0	66.0	67.0					7																	26251377		2203	4300	6503	SO:0001630	splice_region_variant	11335				chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding	g.chr7:26251377G>C	U26312	CCDS5398.1	7p15.2	2010-07-06	2010-06-24		ENSG00000122565	ENSG00000122565			1553	protein-coding gene	gene with protein product	"""HP1 gamma homolog (Drosophila)"""	604477	"""chromobox homolog 3 (Drosophila HP1 gamma)"""			8663349	Standard	NM_016587		Approved	HP1Hs-gamma	uc003sxu.3	Q13185	OTTHUMG00000022911	ENST00000337620.4:c.425+1G>C	7.37:g.26251377G>C						CBX3_uc003sxu.2_Splice_Site_p.W142_splice|CBX3_uc003sxv.2_Splice_Site	p.W142_splice	NM_007276	NP_009207	Q13185	CBX3_HUMAN			5	536	+								Q96CD7|Q99409|Q9BVS3|Q9P0Z6	Splice_Site	SNP	ENST00000337620.4	37	c.425_splice	CCDS5398.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718077	0.48622	.	.	ENSG00000122565	ENST00000337620;ENST00000396386	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5395	0.67982	0.0727:0.0:0.9273:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CBX3	26217902	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	7.823000	0.86660	2.649000	0.89929	0.655000	0.94253	.		0.368	CBX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214117.1	NM_007276	Intron	21	62	0	0	0	0	21	62				
SFRP4	6424	broad.mit.edu	37	7	37955829	37955829	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:37955829G>T	ENST00000436072.2	-	1	688	c.311C>A	c.(310-312)gCg>gAg	p.A104E	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	104	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A104V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GTCGTCGCGCGCGCGTTGGCA	0.627																																						uc003tfo.3		NA																	1	Substitution - Missense(1)		large_intestine(1)	lung(1)	1						c.(310-312)GCG>GAG		secreted frizzled-related  protein 4 precursor							58.0	50.0	53.0					7																	37955829		2203	4300	6503	SO:0001583	missense	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37955829G>T	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.311C>A	7.37:g.37955829G>T	ENSP00000410715:p.Ala104Glu						p.A104E	NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN			1	697	-			104			FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	c.311C>A	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443524	0.83993	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.81247	-1.47	4.28	4.28	0.50868	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.91962	0.7454	M	0.94063	3.49	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	D	0.94161	0.7414	10	0.87932	D	0	.	15.6407	0.76997	0.0:0.0:1.0:0.0	.	104	Q6FHJ7	SFRP4_HUMAN	E	104;101	ENSP00000410715:A104E	ENSP00000410715:A104E	A	-	2	0	SFRP4	37922354	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	9.493000	0.97960	2.205000	0.71048	0.650000	0.86243	GCG		0.627	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		17	46	1	0	6.94e-10	7.61e-10	17	46				
ADCY1	107	broad.mit.edu	37	7	45753466	45753466	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:45753466G>T	ENST00000297323.7	+	20	3254	c.3232G>T	c.(3232-3234)Ggg>Tgg	p.G1078W		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1078					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GTGTCCATTTGGGAGAGCTGG	0.602																																						uc003tne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(3232-3234)GGG>TGG		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						100.0	93.0	95.0					7																	45753466		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45753466G>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.3232G>T	7.37:g.45753466G>T	ENSP00000297323:p.Gly1078Trp						p.G1078W	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			20	3250	+			1078			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.3232G>T	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660330	0.67586	.	.	ENSG00000164742	ENST00000297323	T	0.80214	-1.35	5.5	4.59	0.56863	.	0.115130	0.64402	D	0.000016	T	0.81264	0.4786	L	0.32530	0.975	0.46701	D	0.999162	D	0.65815	0.995	P	0.61397	0.888	T	0.80756	-0.1240	10	0.48119	T	0.1	.	10.3257	0.43792	0.1035:0.0:0.8965:0.0	.	1078	Q08828	ADCY1_HUMAN	W	1078	ENSP00000297323:G1078W	ENSP00000297323:G1078W	G	+	1	0	ADCY1	45719991	1.000000	0.71417	0.968000	0.41197	0.829000	0.46940	3.420000	0.52735	1.246000	0.43901	0.655000	0.94253	GGG		0.602	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		30	111	1	0	1.75e-11	1.92e-11	30	111				
NAA38	84316	broad.mit.edu	37	7	117828389	117828389	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:117828389C>T	ENST00000249299.2	+	3	322	c.130C>T	c.(130-132)Cga>Tga	p.R44*	NAA38_ENST00000422760.1_Nonsense_Mutation_p.R23*|NAA38_ENST00000424702.1_Nonsense_Mutation_p.R44*	NM_016200.4	NP_057284.1	Q9BRA0	LSMD1_HUMAN	N(alpha)-acetyltransferase 38, NatC auxiliary subunit	86					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AAGCCATGAACGAGTATTCAG	0.338																																						uc003vjg.2		NA																	0					0						c.(130-132)CGA>TGA		U6 snRNA-associated Sm-like protein LSm8							90.0	91.0	91.0					7																	117828389		2203	4300	6503	SO:0001587	stop_gained	51691				nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	protein binding|U6 snRNA binding	g.chr7:117828389C>T		CCDS11122.1	17p13.1	2014-01-21	2014-01-21	2014-01-21		ENSG00000183011		"""N(alpha)-acetyltransferase subunits"""	28212	protein-coding gene	gene with protein product			"""LSM domain containing 1"""	LSMD1		16484612, 19398576	Standard	NM_032356		Approved	MGC14151, PFAAP2	uc002gja.3	Q9BRA0		ENST00000249299.2:c.130C>T	7.37:g.117828389C>T	ENSP00000249299:p.Arg44*						p.R44*	NM_016200	NP_057284	O95777	NAA38_HUMAN			3	322	+			44					Q8N4M0	Nonsense_Mutation	SNP	ENST00000249299.2	37	c.130C>T	CCDS5775.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515454	0.85389	.	.	ENSG00000128534	ENST00000249299;ENST00000424702;ENST00000422760;ENST00000411938	.	.	.	5.69	3.88	0.44766	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.827	8.206	0.31456	0.1268:0.7361:0.0:0.1371	.	.	.	.	X	44;44;23;55	.	ENSP00000249299:R44X	R	+	1	2	NAA38	117615625	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	2.155000	0.42301	1.415000	0.47037	0.650000	0.86243	CGA		0.338	NAA38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346774.2	NM_032356		41	138	0	0	0	0	41	138				
AKR1B10	57016	broad.mit.edu	37	7	134216705	134216705	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:134216705G>C	ENST00000359579.4	+	3	600	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	94					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GAAAGCCTTTGAGAAGACCCT	0.468																																						uc003vrr.2		NA																	0				skin(5)	5						c.(280-282)GAG>CAG		aldo-keto reductase family 1, member B10							147.0	140.0	142.0					7																	134216705		2203	4297	6500	SO:0001583	missense	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134216705G>C	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.280G>C	7.37:g.134216705G>C	ENSP00000352584:p.Glu94Gln						p.E94Q	NM_020299	NP_064695	O60218	AK1BA_HUMAN			3	600	+			94					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Missense_Mutation	SNP	ENST00000359579.4	37	c.280G>C	CCDS5832.1	.	.	.	.	.	.	.	.	.	.	C	0.177	-1.066241	0.01934	.	.	ENSG00000198074	ENST00000359579	T	0.21543	2.0	4.44	1.36	0.22044	NADP-dependent oxidoreductase domain (3);	0.315829	0.34362	N	0.004031	T	0.10852	0.0265	N	0.17278	0.47	0.30544	N	0.766144	B	0.02656	0.0	B	0.04013	0.001	T	0.22243	-1.0222	10	0.22706	T	0.39	.	8.7278	0.34480	0.3321:0.5282:0.1397:0.0	.	94	O60218	AK1BA_HUMAN	Q	94	ENSP00000352584:E94Q	ENSP00000352584:E94Q	E	+	1	0	AKR1B10	133867245	0.000000	0.05858	0.077000	0.20336	0.031000	0.12232	-0.353000	0.07691	0.018000	0.15052	-0.321000	0.08615	GAG		0.468	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		40	150	0	0	0	0	40	150				
MGAM	8972	broad.mit.edu	37	7	141765212	141765212	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:141765212G>C	ENST00000549489.2	+	38	4657	c.4562G>C	c.(4561-4563)gGa>gCa	p.G1521A	MGAM_ENST00000475668.2_Missense_Mutation_p.G1521A	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1521	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CGCTGGGCAGGACATTGGCTG	0.622																																						uc003vwy.2		NA																	0				ovary(2)	2						c.(4561-4563)GGA>GCA		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						41.0	48.0	46.0					7																	141765212		2023	4181	6204	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141765212G>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4562G>C	7.37:g.141765212G>C	ENSP00000447378:p.Gly1521Ala						p.G1521A	NM_004668	NP_004659	O43451	MGA_HUMAN			38	4616	+	Melanoma(164;0.0272)		1521			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.4562G>C	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165813	0.78339	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91351	-2.83	3.97	3.97	0.46021	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.92773	0.7702	L	0.46741	1.465	0.50813	D	0.999891	D	0.89917	1.0	D	0.74674	0.984	D	0.92324	0.5868	9	0.40728	T	0.16	.	14.8747	0.70485	0.0:0.0:1.0:0.0	.	1521	O43451	MGA_HUMAN	A	1521;1521;1398	ENSP00000447378:G1521A	ENSP00000316431:G1398A	G	+	2	0	MGAM	141411681	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	9.718000	0.98758	1.759000	0.51996	0.306000	0.20318	GGA		0.622	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			4	11	0	0	0	0	4	11				
ZBED6CL	113763	broad.mit.edu	37	7	150028028	150028028	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:150028028G>A	ENST00000343855.4	+	1	1091	c.535G>A	c.(535-537)Gag>Aag	p.E179K	LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000323078.7_Intron	NM_138434.2	NP_612443.1	Q96FA7	ZB6CL_HUMAN	ZBED6 C-terminal like	179																	GCTGGCCTCTGAGAGAAGCGG	0.627																																						uc003wgy.2		NA																	0				ovary(1)	1						c.(535-537)GAG>AAG		hypothetical protein LOC113763							22.0	24.0	24.0					7																	150028028		2203	4300	6503	SO:0001583	missense	113763							g.chr7:150028028G>A	BC011406	CCDS5900.1	7q35	2013-05-03	2013-05-03	2013-05-03	ENSG00000188707	ENSG00000188707			21720	protein-coding gene	gene with protein product		615252	"""chromosome 7 open reading frame 29"""	C7orf29		23533661	Standard	NM_138434		Approved			Q96FA7	OTTHUMG00000158328	ENST00000343855.4:c.535G>A	7.37:g.150028028G>A	ENSP00000343242:p.Glu179Lys					LRRC61_uc003wgv.2_Intron|LRRC61_uc003wgx.2_Intron|LRRC61_uc003wgw.2_Intron	p.E179K	NM_138434	NP_612443	Q96FA7	CG029_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		1	1091	+			179						Missense_Mutation	SNP	ENST00000343855.4	37	c.535G>A	CCDS5900.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.519537	0.00967	.	.	ENSG00000188707	ENST00000343855	.	.	.	3.53	-6.15	0.02105	.	3.261610	0.03562	N	0.227269	T	0.13927	0.0337	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.18555	-1.0333	9	0.11794	T	0.64	.	6.0876	0.19976	0.4543:0.2559:0.2897:0.0	.	179	Q96FA7	CG029_HUMAN	K	179	.	ENSP00000343242:E179K	E	+	1	0	C7orf29	149658961	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.867000	0.04241	-1.591000	0.01621	-0.458000	0.05436	GAG		0.627	ZBED6CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350702.1	NM_138434		7	54	0	0	0	0	7	54				
DPP6	1804	broad.mit.edu	37	7	154679393	154679393	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:154679393G>A	ENST00000377770.3	+	23	2394	c.2253G>A	c.(2251-2253)gcG>gcA	p.A751A	DPP6_ENST00000332007.3_Silent_p.A689A|DPP6_ENST00000404039.1_Silent_p.A687A|DPP6_ENST00000427557.1_Silent_p.A644A			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	751					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAGCCTCTGCGTTTTCCGAGA	0.592																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NA																	0				pancreas(3)|breast(1)	4						c.(2251-2253)GCG>GCA		dipeptidyl-peptidase 6 isoform 1							209.0	220.0	216.0					7																	154679393		2071	4203	6274	SO:0001819	synonymous_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154679393G>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2253G>A	7.37:g.154679393G>A						DPP6_uc003wli.2_Silent_p.A687A|DPP6_uc003wlm.2_Silent_p.A689A|DPP6_uc011kvq.1_Silent_p.A644A	p.A751A	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		23	2382	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	751			Extracellular (Potential).			Silent	SNP	ENST00000377770.3	37	c.2253G>A																																																																																					0.592	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		69	241	0	0	0	0	69	241				
DCSTAMP	81501	broad.mit.edu	37	8	105367308	105367308	+	Silent	SNP	C	C	T	rs201469150		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr8:105367308C>T	ENST00000297581.2	+	3	1282	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	411					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.S411R(1)									TCTACCCCAGCGTGGAGAGGA	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		19862	0.0		0.001	False		,,,				2504	0.0					uc003ylx.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|large_intestine(1)|ovary(1)	4						c.(1231-1233)AGC>AGT		dendritic cell-specific transmembrane protein							130.0	129.0	130.0					8																	105367308		2203	4300	6503	SO:0001819	synonymous_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105367308C>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1233C>T	8.37:g.105367308C>T							p.S411S	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		3	1282	+			411			Cytoplasmic.		B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	c.1233C>T	CCDS6301.1																																																																																				0.438	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		36	242	0	0	0	0	36	242				
CSMD3	114788	broad.mit.edu	37	8	113599423	113599423	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr8:113599423G>A	ENST00000297405.5	-	23	4001	c.3757C>T	c.(3757-3759)Ctg>Ttg	p.L1253L	CSMD3_ENST00000455883.2_Silent_p.L1149L|CSMD3_ENST00000352409.3_Silent_p.L1253L|CSMD3_ENST00000343508.3_Silent_p.L1213L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1253	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTGGAGACAGCAAAATTCCT	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3757-3759)CTG>TTG		CUB and Sushi multiple domains 3 isoform 1							129.0	123.0	125.0					8																	113599423		2203	4299	6502	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113599423G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3757C>T	8.37:g.113599423G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.L525L|CSMD3_uc003ynt.2_Silent_p.L1213L|CSMD3_uc011lhx.1_Silent_p.L1149L	p.L1253L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			23	3916	-			1253			Extracellular (Potential).|CUB 7.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.3757C>T	CCDS6315.1																																																																																				0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		29	222	0	0	0	0	29	222				
TRPS1	7227	broad.mit.edu	37	8	116599315	116599315	+	Silent	SNP	A	A	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr8:116599315A>C	ENST00000220888.5	-	4	2733	c.2574T>G	c.(2572-2574)gcT>gcG	p.A858A	TRPS1_ENST00000520276.1_Silent_p.A862A|TRPS1_ENST00000395715.3_Silent_p.A871A|TRPS1_ENST00000519076.1_Silent_p.A612A|TRPS1_ENST00000519674.1_Silent_p.A858A			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	858					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCTCTCCGCCAGCTGGCGCCC	0.577									Langer-Giedion syndrome																													uc003ynz.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(2572-2574)GCT>GCG		zinc finger transcription factor TRPS1							35.0	37.0	36.0					8																	116599315		1818	4067	5885	SO:0001819	synonymous_variant	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116599315A>C	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2574T>G	8.37:g.116599315A>C						TRPS1_uc011lhy.1_Silent_p.A862A|TRPS1_uc003yny.2_Silent_p.A871A|TRPS1_uc010mcy.2_Silent_p.A858A	p.A858A	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	3033	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		858					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	ENST00000220888.5	37	c.2574T>G																																																																																					0.577	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		4	141	0	0	0	0	4	141				
HAS2	3037	broad.mit.edu	37	8	122641162	122641162	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr8:122641162C>T	ENST00000303924.4	-	2	956	c.419G>A	c.(418-420)aGa>aAa	p.R140K		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	140					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TGATTTGTCTCTGCCCATGAC	0.443																																						uc003yph.2		NA																HAS2/PLAG1(10)	0				soft_tissue(10)|ovary(5)	15						c.(418-420)AGA>AAA		hyaluronan synthase 2							257.0	230.0	239.0					8																	122641162		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122641162C>T	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.419G>A	8.37:g.122641162C>T	ENSP00000306991:p.Arg140Lys						p.R140K	NM_005328	NP_005319	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	957	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		140			Cytoplasmic (Potential).		Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.419G>A	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364178	0.24684	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.57907	0.37	6.17	6.17	0.99709	.	0.083137	0.85682	D	0.000000	T	0.42988	0.1227	L	0.35414	1.06	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41770	-0.9490	10	0.06099	T	0.92	-20.2655	20.8794	0.99867	0.0:1.0:0.0:0.0	.	140	Q92819	HAS2_HUMAN	K	140	ENSP00000306991:R140K	ENSP00000306991:R140K	R	-	2	0	HAS2	122710343	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.646000	0.61411	2.941000	0.99782	0.655000	0.94253	AGA		0.443	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		86	434	0	0	0	0	86	434				
FER1L6	654463	broad.mit.edu	37	8	124975615	124975615	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr8:124975615C>T	ENST00000522917.1	+	3	380	c.174C>T	c.(172-174)gtC>gtT	p.V58V	FER1L6_ENST00000399018.1_Silent_p.V58V	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	58						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTTTCCTGTCCCCTCAGCTT	0.507																																						uc003yqw.2		NA																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(172-174)GTC>GTT		fer-1-like 6							181.0	174.0	176.0					8																	124975615		1990	4173	6163	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:124975615C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.174C>T	8.37:g.124975615C>T							p.V58V	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		3	380	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		58			Cytoplasmic (Potential).			Silent	SNP	ENST00000522917.1	37	c.174C>T	CCDS43767.1																																																																																				0.507	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		111	123	0	0	0	0	111	123				
HSF1	3297	broad.mit.edu	37	8	145533469	145533469	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr8:145533469G>A	ENST00000528838.1	+	4	535	c.375G>A	c.(373-375)ctG>ctA	p.L125L	HSF1_ENST00000400780.4_Silent_p.L60L	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	125					cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TGTCCACCCTGAAGAGTGAAG	0.597																																						uc003zbt.3		NA																	0					0						c.(373-375)CTG>CTA		heat shock transcription factor 1							90.0	89.0	89.0					8																	145533469		2203	4296	6499	SO:0001819	synonymous_variant	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145533469G>A	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.375G>A	8.37:g.145533469G>A						HSF1_uc003zbu.3_RNA	p.L125L	NM_005526	NP_005517	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		4	545	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		125					A8K4L0|A8MW26|Q53XT4	Silent	SNP	ENST00000528838.1	37	c.375G>A	CCDS6419.1																																																																																				0.597	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		18	117	0	0	0	0	18	117				
KIAA2026	158358	broad.mit.edu	37	9	5920675	5920675	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:5920675G>C	ENST00000399933.3	-	8	5320	c.5321C>G	c.(5320-5322)tCt>tGt	p.S1774C	KIAA2026_ENST00000381461.2_Missense_Mutation_p.S1744C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1774										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AATAGATACAGAACGTGTGGC	0.423																																						uc003zjq.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(5320-5322)TCT>TGT		hypothetical protein LOC158358							321.0	314.0	317.0					9																	5920675		1948	4138	6086	SO:0001583	missense	158358							g.chr9:5920675G>C	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.5321C>G	9.37:g.5920675G>C	ENSP00000382815:p.Ser1774Cys					KIAA2026_uc010mht.2_Missense_Mutation_p.S949C	p.S1774C	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	5537	-		Acute lymphoblastic leukemia(23;0.158)	1774					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.5321C>G		.	.	.	.	.	.	.	.	.	.	G	2.777	-0.254336	0.05829	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.32	3.47	0.39725	.	0.794314	0.11423	N	0.565603	T	0.34106	0.0886	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26189	-1.0110	9	0.45353	T	0.12	0.0052	5.8988	0.18955	0.1606:0.3001:0.5393:0.0	.	1774	Q5HYC2	K2026_HUMAN	C	1774;1744	.	ENSP00000370870:S1744C	S	-	2	0	KIAA2026	5910675	0.021000	0.18746	0.024000	0.17045	0.297000	0.27493	2.115000	0.41921	0.806000	0.34183	-0.515000	0.04445	TCT		0.423	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		4	467	0	0	0	0	4	467				
SH3GL2	6456	broad.mit.edu	37	9	17791298	17791298	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:17791298A>T	ENST00000380607.4	+	7	814	c.694A>T	c.(694-696)Atc>Ttc	p.I232F	SH3GL2_ENST00000537391.1_Missense_Mutation_p.I185F	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	232	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GGCAGTCCAGATCCTGCAGCA	0.433																																						uc003zna.2		NA																	0				skin(1)	1						c.(694-696)ATC>TTC		SH3-domain GRB2-like 2							147.0	134.0	138.0					9																	17791298		2203	4300	6503	SO:0001583	missense	6456				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	g.chr9:17791298A>T	X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.694A>T	9.37:g.17791298A>T	ENSP00000369981:p.Ile232Phe					SH3GL2_uc011lmy.1_Missense_Mutation_p.I185F	p.I232F	NM_003026	NP_003017	Q99962	SH3G2_HUMAN		GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)	7	982	+			232			BAR.|Potential.		B2R618|Q9NQK5	Missense_Mutation	SNP	ENST00000380607.4	37	c.694A>T	CCDS6483.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.211010	0.79240	.	.	ENSG00000107295	ENST00000541215;ENST00000397481;ENST00000380607;ENST00000537391	T;T	0.63744	-0.06;-0.06	5.33	4.19	0.49359	BAR (3);	0.229969	0.34314	N	0.004071	T	0.78855	0.4349	M	0.87180	2.865	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	T	0.80989	-0.1136	10	0.87932	D	0	.	10.8246	0.46625	0.926:0.0:0.074:0.0	.	232	Q99962	SH3G2_HUMAN	F	61;210;232;185	ENSP00000369981:I232F;ENSP00000443365:I185F	ENSP00000369981:I232F	I	+	1	0	SH3GL2	17781298	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.436000	0.59948	0.872000	0.35775	0.523000	0.50628	ATC		0.433	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026		34	131	0	0	0	0	34	131				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L	p.R80*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	450	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		10	12	0	0	0	0	10	12				
EQTN	54586	broad.mit.edu	37	9	27286284	27286284	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:27286284G>C	ENST00000380032.3	-	7	641	c.558C>G	c.(556-558)atC>atG	p.I186M	EQTN_ENST00000537675.1_Missense_Mutation_p.I157M	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	186					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)											TCATCAACGAGATTCCCAGCA	0.458																																						uc003zql.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(556-558)ATC>ATG		Acr formation associated factor isoform 1							194.0	183.0	187.0					9																	27286284		2203	4300	6503	SO:0001583	missense	54586					acrosomal membrane|integral to membrane		g.chr9:27286284G>C	AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"""Acr formation associated factor"", ""Acrosome formation associated factor"", ""sperm acrosome associated 8"""		"""chromosome 9 open reading frame 11"", ""equatorin"""	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.558C>G	9.37:g.27286284G>C	ENSP00000369371:p.Ile186Met					C9orf11_uc011lnq.1_Missense_Mutation_p.I157M	p.I186M	NM_020641	NP_065692	Q9NQ60	AFAF_HUMAN		OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)	7	642	-			186			Helical; (Potential).		B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Missense_Mutation	SNP	ENST00000380032.3	37	c.558C>G	CCDS35001.1	.	.	.	.	.	.	.	.	.	.	.	13.85	2.359140	0.41801	.	.	ENSG00000120160	ENST00000537675;ENST00000380032	T;T	0.46819	0.86;0.86	4.68	0.0013	0.14045	.	0.166682	0.28859	N	0.013904	T	0.50650	0.1628	L	0.47190	1.495	0.09310	N	1	D;D	0.67145	0.992;0.996	D;D	0.69479	0.935;0.964	T	0.36720	-0.9736	10	0.87932	D	0	.	2.9968	0.06001	0.3668:0.0:0.4256:0.2076	.	157;186	B7ZMK1;Q9NQ60	.;AFAF_HUMAN	M	157;186	ENSP00000441630:I157M;ENSP00000369371:I186M	ENSP00000369371:I186M	I	-	3	3	C9orf11	27276284	0.087000	0.21565	0.089000	0.20774	0.141000	0.21300	-0.017000	0.12590	0.142000	0.18901	0.557000	0.71058	ATC		0.458	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055499.1	NM_020641		7	20	0	0	0	0	7	20				
LINGO2	158038	broad.mit.edu	37	9	27949543	27949543	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:27949543C>A	ENST00000379992.2	-	6	1576	c.1127G>T	c.(1126-1128)gGt>gTt	p.G376V	LINGO2_ENST00000308675.3_Missense_Mutation_p.G376V	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	376	LRRCT.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TTGCTGGCCACCAAACTGCAG	0.527																																						uc003zqu.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1126-1128)GGT>GTT		leucine rich repeat and Ig domain containing 2							42.0	40.0	41.0					9																	27949543		2202	4300	6502	SO:0001583	missense	158038					integral to membrane		g.chr9:27949543C>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1127G>T	9.37:g.27949543C>A	ENSP00000369328:p.Gly376Val					LINGO2_uc010mjf.1_Missense_Mutation_p.G376V|LINGO2_uc003zqv.1_Missense_Mutation_p.G376V	p.G376V	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	1321	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	376			LRRCT.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1127G>T	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985896	0.53934	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.58060	0.36;0.36	6.16	6.16	0.99307	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	M	0.65498	2.005	0.80722	D	1	P	0.50617	0.937	P	0.49561	0.615	T	0.58679	-0.7594	9	.	.	.	.	13.9788	0.64291	0.0:0.9314:0.0:0.0686	.	376	Q7L985	LIGO2_HUMAN	V	376	ENSP00000369328:G376V;ENSP00000310126:G376V	.	G	-	2	0	LINGO2	27939543	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	6.091000	0.71406	2.937000	0.99478	0.650000	0.86243	GGT		0.527	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		4	66	1	0	0.00024832	0.000261054	4	66				
BRINP1	1620	broad.mit.edu	37	9	121930223	121930223	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:121930223G>A	ENST00000265922.3	-	8	1886	c.1425C>T	c.(1423-1425)atC>atT	p.I475I	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	475					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TCTCAAAGCTGATGAACTGCT	0.572																																						uc004bkc.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(1423-1425)ATC>ATT		deleted in bladder cancer 1 precursor							194.0	150.0	165.0					9																	121930223		2203	4300	6503	SO:0001819	synonymous_variant	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121930223G>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1425C>T	9.37:g.121930223G>A							p.I475I	NM_014618	NP_055433	O60477	DBC1_HUMAN			8	1881	-			475					Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.1425C>T	CCDS6822.1																																																																																				0.572	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		16	53	0	0	0	0	16	53				
GSN	2934	broad.mit.edu	37	9	124072998	124072998	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:124072998C>T	ENST00000373818.4	+	4	610	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	GSN_ENST00000341272.2_Missense_Mutation_p.P130S|GSN_ENST00000373823.3_Missense_Mutation_p.P130S|GSN_ENST00000373808.2_Missense_Mutation_p.P130S|GSN_ENST00000412819.1_Missense_Mutation_p.P130S|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000436847.1_Missense_Mutation_p.P141S|GSN_ENST00000394353.2_Missense_Mutation_p.P141S|GSN_ENST00000373807.1_5'Flank|GSN_ENST00000449733.1_Missense_Mutation_p.P130S|GSN_ENST00000545652.1_Missense_Mutation_p.P138S	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	181					actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GCACGTGGTACCCAACGAGGT	0.577																																						uc004blf.1		NA																	0				breast(2)|ovary(1)	3						c.(541-543)CCC>TCC		gelsolin isoform a precursor							188.0	134.0	152.0					9																	124072998		2203	4300	6503	SO:0001583	missense	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124072998C>T	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.541C>T	9.37:g.124072998C>T	ENSP00000362924:p.Pro181Ser					GSN_uc004bld.1_Missense_Mutation_p.P130S|GSN_uc010mvq.1_Missense_Mutation_p.P141S|GSN_uc010mvr.1_Missense_Mutation_p.P141S|GSN_uc010mvu.1_Missense_Mutation_p.P130S|GSN_uc010mvt.1_Missense_Mutation_p.P130S|GSN_uc010mvs.1_Missense_Mutation_p.P130S|GSN_uc004ble.1_Missense_Mutation_p.P130S|GSN_uc010mvv.1_Missense_Mutation_p.P130S|GSN_uc011lyh.1_Missense_Mutation_p.P147S|GSN_uc011lyi.1_Missense_Mutation_p.P130S|GSN_uc011lyj.1_Missense_Mutation_p.P154S|GSN_uc004blg.1_5'Flank	p.P181S	NM_000177	NP_000168	P06396	GELS_HUMAN			4	602	+			181					A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	c.541C>T	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217946	0.58560	.	.	ENSG00000148180	ENST00000373823;ENST00000432226;ENST00000449773;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818	T;T;T;T;T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05	5.33	5.33	0.75918	.	0.096164	0.64402	D	0.000001	T	0.54743	0.1877	L	0.39147	1.195	0.58432	D	0.999992	B;B;B;B	0.18013	0.0;0.025;0.001;0.001	B;B;B;B	0.11329	0.0;0.006;0.001;0.002	T	0.48768	-0.9006	10	0.26408	T	0.33	-17.1482	17.5915	0.87998	0.0:1.0:0.0:0.0	.	154;138;141;181	B7Z9A0;F5H1A8;B7Z373;P06396	.;.;.;GELS_HUMAN	S	130;130;141;141;141;130;130;130;130;114;104;138;181	ENSP00000362929:P130S;ENSP00000404226:P130S;ENSP00000410657:P141S;ENSP00000411293:P141S;ENSP00000377882:P141S;ENSP00000409358:P130S;ENSP00000416586:P130S;ENSP00000340888:P130S;ENSP00000362914:P130S;ENSP00000445823:P138S;ENSP00000362924:P181S	ENSP00000340888:P130S	P	+	1	0	GSN	123112819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.757000	0.62213	2.492000	0.84095	0.655000	0.94253	CCC		0.577	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		18	74	0	0	0	0	18	74				
GOLGA1	2800	broad.mit.edu	37	9	127684082	127684082	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:127684082C>T	ENST00000373555.4	-	9	984	c.651G>A	c.(649-651)atG>atA	p.M217I		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	217					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GATTGGAGTTCATCAACTCCT	0.438																																						uc004bpc.2		NA																	0				ovary(1)	1						c.(649-651)ATG>ATA		golgin 97							265.0	231.0	242.0					9																	127684082		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127684082C>T	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.651G>A	9.37:g.127684082C>T	ENSP00000362656:p.Met217Ile					GOLGA1_uc010mws.2_RNA|GOLGA1_uc010mwt.1_Missense_Mutation_p.M192I	p.M217I	NM_002077	NP_002068	Q92805	GOGA1_HUMAN			9	993	-			217			Potential.		Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.651G>A	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963525	0.34659	.	.	ENSG00000136935	ENST00000373555	T	0.08634	3.07	5.0	4.11	0.48088	.	0.487541	0.17394	U	0.175830	T	0.09379	0.0231	L	0.44542	1.39	0.22156	N	0.999328	B;B	0.15473	0.013;0.003	B;B	0.16289	0.015;0.002	T	0.16660	-1.0395	10	0.42905	T	0.14	-2.3078	12.7695	0.57412	0.0:0.9205:0.0:0.0795	.	116;217	Q59HA1;Q92805	.;GOGA1_HUMAN	I	217	ENSP00000362656:M217I	ENSP00000362656:M217I	M	-	3	0	GOLGA1	126723903	0.944000	0.32072	0.987000	0.45799	0.912000	0.54170	1.716000	0.37981	1.252000	0.44001	-0.253000	0.11424	ATG		0.438	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		54	213	0	0	0	0	54	213				
NUP188	23511	broad.mit.edu	37	9	131745261	131745261	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:131745261G>C	ENST00000372577.2	+	17	1771	c.1750G>C	c.(1750-1752)Gac>Cac	p.D584H		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	584					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTCGATAGCAGACTGTCTCCT	0.522																																						uc004bws.1		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(1750-1752)GAC>CAC		nucleoporin 188kDa							189.0	143.0	159.0					9																	131745261		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131745261G>C	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1750G>C	9.37:g.131745261G>C	ENSP00000361658:p.Asp584His					NUP188_uc004bwu.2_5'Flank	p.D584H	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			17	1772	+			584					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.1750G>C	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.291637	0.80914	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.32515	1.45	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38156	-0.9674	10	0.62326	D	0.03	-32.8388	19.609	0.95594	0.0:0.0:1.0:0.0	.	584	Q5SRE5	NU188_HUMAN	H	473;584	ENSP00000361658:D584H	ENSP00000349125:D473H	D	+	1	0	NUP188	130785082	1.000000	0.71417	0.998000	0.56505	0.421000	0.31385	9.238000	0.95380	2.882000	0.98803	0.655000	0.94253	GAC		0.522	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			50	186	0	0	0	0	50	186				
MED14	9282	broad.mit.edu	37	X	40522377	40522377	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chrX:40522377G>A	ENST00000324817.1	-	26	3602	c.3484C>T	c.(3484-3486)Cgt>Tgt	p.R1162C		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1162	Pro-rich.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTAGTTTACGAGGTGGAGGC	0.453																																						uc004dex.3		NA																	0				breast(2)|kidney(1)|skin(1)	4						c.(3484-3486)CGT>TGT		mediator complex subunit 14							141.0	114.0	123.0					X																	40522377		2203	4300	6503	SO:0001583	missense	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40522377G>A	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3484C>T	X.37:g.40522377G>A	ENSP00000323720:p.Arg1162Cys					MED14_uc004dey.1_Missense_Mutation_p.R64C	p.R1162C	NM_004229	NP_004220	O60244	MED14_HUMAN			26	3624	-			1162			Pro-rich.		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.3484C>T	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829787	0.91036	.	.	ENSG00000180182	ENST00000324817;ENST00000433003	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.81662	-0.0831	9	0.87932	D	0	.	18.4114	0.90552	0.0:0.0:1.0:0.0	.	1162;1162	A8KAK5;O60244	.;MED14_HUMAN	C	1162;61	.	ENSP00000323720:R1162C	R	-	1	0	MED14	40407321	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.476000	0.97823	2.289000	0.77006	0.529000	0.55759	CGT		0.453	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		10	10	0	0	0	0	10	10				
GDPD2	54857	broad.mit.edu	37	X	69649354	69649354	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chrX:69649354C>T	ENST00000374382.3	+	11	1199	c.948C>T	c.(946-948)ttC>ttT	p.F316F	GDPD2_ENST00000538649.1_Silent_p.F237F|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000453994.2_Silent_p.F316F|GDPD2_ENST00000536730.1_Silent_p.F237F	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	316	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GGCGACCCTTCTGGGGGGCCA	0.522																																						uc004dyh.2		NA																	0				ovary(2)	2						c.(946-948)TTC>TTT		osteoblast differentiation promoting factor							46.0	42.0	43.0					X																	69649354		2203	4300	6503	SO:0001819	synonymous_variant	54857				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	g.chrX:69649354C>T	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.948C>T	X.37:g.69649354C>T						GDPD2_uc010nkx.1_3'UTR|GDPD2_uc010nky.1_Silent_p.F102F|GDPD2_uc011mpk.1_Silent_p.F316F|GDPD2_uc011mpl.1_Silent_p.F237F|GDPD2_uc011mpm.1_Silent_p.F237F	p.F316F	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN			11	1199	+	Renal(35;0.156)		316			GDPD.|Extracellular (Potential).		B4DRH4|B4DVC9|Q9NXJ6	Silent	SNP	ENST00000374382.3	37	c.948C>T	CCDS14402.1																																																																																				0.522	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		12	16	0	0	0	0	12	16				
DRP2	1821	broad.mit.edu	37	X	100511136	100511136	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chrX:100511136C>G	ENST00000395209.3	+	21	2803	c.2276C>G	c.(2275-2277)tCc>tGc	p.S759C	DRP2_ENST00000541709.1_Missense_Mutation_p.S681C|DRP2_ENST00000538510.1_Missense_Mutation_p.S759C|DRP2_ENST00000402866.1_Missense_Mutation_p.S759C	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	759					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CTGCGGCACTCCAGCCCCATC	0.572																																						uc004egz.2		NA																	0				ovary(2)	2						c.(2275-2277)TCC>TGC		dystrophin related protein 2							103.0	92.0	96.0					X																	100511136		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100511136C>G	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2276C>G	X.37:g.100511136C>G	ENSP00000378635:p.Ser759Cys					DRP2_uc011mrh.1_Missense_Mutation_p.S681C	p.S759C	NM_001939	NP_001930	Q13474	DRP2_HUMAN			21	2645	+			759					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.2276C>G	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782867	0.49891	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.48	4.62	0.57501	.	0.055755	0.85682	N	0.000000	D	0.87779	0.6263	M	0.68317	2.08	0.58432	D	0.999999	D	0.76494	0.999	D	0.77557	0.99	D	0.84981	0.0888	10	0.02654	T	1	-8.9489	15.5118	0.75789	0.0:0.8651:0.1349:0.0	.	759	Q13474	DRP2_HUMAN	C	759;759;681;759	ENSP00000385038:S759C;ENSP00000378635:S759C;ENSP00000444752:S681C;ENSP00000441051:S759C	ENSP00000378635:S759C	S	+	2	0	DRP2	100397792	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.777000	0.68931	1.072000	0.40860	0.600000	0.82982	TCC		0.572	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		26	58	0	0	0	0	26	58				
USH2A	7399	broad.mit.edu	37	1	215848871	215848872	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:215848871_215848872delAG	ENST00000307340.3	-	63	12767_12768	c.12381_12382delCT	c.(12379-12384)ctctacfs	p.Y4128fs	USH2A_ENST00000366943.2_Frame_Shift_Del_p.Y4128fs	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4128	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTCAGTGTGTAGAGAGTGAAAG	0.559										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(12379-12384)CTCTACfs		usherin isoform B																																				SO:0001589	frameshift_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848871_215848872delAG	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12381_12382delCT	1.37:g.215848875_215848876delAG	ENSP00000305941:p.Tyr4128fs	HNSCC(13;0.011)					p.L4127fs	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	12768_12769	-			4127_4128			Fibronectin type-III 26.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Frame_Shift_Del	DEL	ENST00000307340.3	37	c.12381_12382delCT	CCDS31025.1																																																																																				0.559	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		15	41	NA	NA	NA	NA	15	41	---	---	---	---
ZNF319	57567	broad.mit.edu	37	16	58031982	58031982	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:58031982delG	ENST00000299237.2	-	2	810	c.188delC	c.(187-189)ccafs	p.P63fs	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	63	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						TGCGTGTTGTGGGGGCTGCAG	0.687																																						uc002emx.1		NA																	0					0						c.(187-189)CCAfs		zinc finger protein 319							34.0	36.0	36.0					16																	58031982		2198	4299	6497	SO:0001589	frameshift_variant	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58031982delG	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.188delC	16.37:g.58031982delG	ENSP00000299237:p.Pro63fs						p.P63fs	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN			2	811	-			63			Pro-rich.		Q52LH8	Frame_Shift_Del	DEL	ENST00000299237.2	37	c.188delC	CCDS32462.1																																																																																				0.687	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			20	62	NA	NA	NA	NA	20	62	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32641134	32641153	+	Frame_Shift_Del	DEL	AGTGGAGCCTCCCAAAAAGG	AGTGGAGCCTCCCAAAAAGG	-	rs542775800		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:32641134_32641153delAGTGGAGCCTCCCAAAAAGG	ENST00000421745.2	+	10	2909_2928	c.2775_2794delAGTGGAGCCTCCCAAAAAGG	c.(2773-2796)aaagtggagcctcccaaaaaggagfs	p.VEPPKKE926fs		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	926					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTTGGCCAAAGTGGAGCCTCCCAAAAAGGAGGGCACTGA	0.414																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(2773-2796)AAAGTGGAGCCTCCCAAAAAGGAGfs		baculoviral IAP repeat-containing 6																																				SO:0001589	frameshift_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32641134_32641153delAGTGGAGCCTCCCAAAAAGG	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2775_2794delAGTGGAGCCTCCCAAAAAGG	2.37:g.32641134_32641153delAGTGGAGCCTCCCAAAAAGG	ENSP00000393596:p.Val926fs						p.K925fs	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			10	2909_2928	+	Acute lymphoblastic leukemia(172;0.155)		925_932					Q9ULD1	Frame_Shift_Del	DEL	ENST00000421745.2	37	c.2775_2794delAGTGGAGCCTCCCAAAAAGG	CCDS33175.2																																																																																				0.414	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		18	140	NA	NA	NA	NA	18	140	---	---	---	---
TCF7	6932	broad.mit.edu	37	5	133473764	133473765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:133473764_133473765insC	ENST00000321584.4	+	4	652_653	c.456_457insC	c.(457-459)cccfs	p.P153fs	TCF7_ENST00000321603.6_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000395029.1_Frame_Shift_Ins_p.P153fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	153					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCCAATCAGCCCCCCCACGG	0.574																																						uc003kyt.2		NA																	0					0						c.(454-459)CAGCCCfs		transcription factor 7 (T-cell specific,																																				SO:0001589	frameshift_variant	6932				cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding	g.chr5:133473764_133473765insC	Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.463dupC	5.37:g.133473771_133473771dupC	ENSP00000326540:p.Pro153fs					TCF7_uc003kyu.1_Frame_Shift_Ins_p.Q37fs|TCF7_uc003kyv.2_Frame_Shift_Ins_p.Q37fs|TCF7_uc003kyw.2_Frame_Shift_Ins_p.Q37fs|TCF7_uc003kyx.2_5'UTR|TCF7_uc003kyy.2_Frame_Shift_Ins_p.Q37fs|TCF7_uc003kyz.2_Frame_Shift_Ins_p.Q37fs|TCF7_uc003kza.2_Frame_Shift_Ins_p.Q37fs	p.Q152fs	NM_003202	NP_003193	P36402	TCF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	652_653	+		Breast(839;0.058)	152_153					B3KSH3|Q86WR9|Q9UKI4	Frame_Shift_Ins	INS	ENST00000321584.4	37	c.456_457insC																																																																																					0.574	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634		14	113	NA	NA	NA	NA	14	113	---	---	---	---
