#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TAL1	6886	broad.mit.edu	37	1	47685806	47685806	+	Silent	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr1:47685806G>A	ENST00000294339.3	-	4	1158	c.582C>T	c.(580-582)agC>agT	p.S194S	TAL1_ENST00000371884.2_Silent_p.S194S|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371883.3_Silent_p.S196S	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	194	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|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)	p.S194R(1)|p.S194S(1)		haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						ATCGCTCCCGGCTGTTGGTGA	0.562			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic																																		uc001cqx.2		NA		Dom	yes		1	1p32	6886	T	T-cell acute lymphocytic leukemia 1 (SCL)			L	TRD@|SIL		lymphoblastic leukemia/biphasic		2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	lung(1)	1						c.(580-582)AGC>AGT		T-cell acute lymphocytic leukemia 1							41.0	39.0	40.0					1																	47685806		2203	4300	6503	SO:0001819	synonymous_variant	6886				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr1:47685806G>A	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"""Basic helix-loop-helix proteins"""	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.582C>T	1.37:g.47685806G>A						TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Silent_p.S194S	p.S194S	NM_003189	NP_003180	P17542	TAL1_HUMAN			4	1159	-			194			Basic motif.		D3DQ24	Silent	SNP	ENST00000294339.3	37	c.582C>T	CCDS547.1																																																																																				0.562	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		18	24	0	0	0	0.007413	0	18	24				
SLC50A1	55974	broad.mit.edu	37	1	155108457	155108457	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr1:155108457T>G	ENST00000368404.4	+	1	132	c.70T>G	c.(70-72)Tcc>Gcc	p.S24A	SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000484157.1_Intron|SLC50A1_ENST00000368401.5_Missense_Mutation_p.L10R|SLC50A1_ENST00000303343.8_Missense_Mutation_p.S24A	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	24	MtN3/slv 1.				carbohydrate transport (GO:0008643)|DNA recombination (GO:0006310)|glucoside transport (GO:0042946)|positive regulation of gene expression, epigenetic (GO:0045815)	endomembrane system (GO:0012505)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucoside transmembrane transporter activity (GO:0042947)	p.S24A(1)		endometrium(1)|lung(1)|ovary(1)|skin(1)	4						TGGCATGTTCTCCGCCGGCCT	0.642																																							uc001fhj.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(70-72)TCC>GCC		recombination activating gene 1 activating							31.0	29.0	30.0					1																	155108457		2203	4300	6503	SO:0001583	missense	55974				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity	g.chr1:155108457T>G	AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241		"""Solute carriers"""	30657	protein-coding gene	gene with protein product	"""stromal cell protein"""	613683	"""recombination activating gene 1 activating protein 1"""	RAG1AP1		21107422	Standard	NM_018845		Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	ENST00000368404.4:c.70T>G	1.37:g.155108457T>G	ENSP00000357389:p.Ser24Ala					RAG1AP1_uc010pey.1_RNA|RAG1AP1_uc001fhk.3_Missense_Mutation_p.L10R|RAG1AP1_uc001fhl.3_Missense_Mutation_p.S24A	p.S24A	NM_018845	NP_061333	Q9BRV3	SWET1_HUMAN	Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)		1	170	+	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		24			MtN3/slv 1.		Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	Missense_Mutation	SNP	ENST00000368404.4	37	c.70T>G	CCDS1093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.49|18.49	3.635570|3.635570	0.67130|0.67130	.|.	.|.	ENSG00000169241|ENSG00000169241	ENST00000368401|ENST00000303343;ENST00000368404	.|.	.|.	.|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.070534	.|0.64402	.|D	.|0.000015	T|T	0.20861|0.20861	0.0502|0.0502	.|.	.|.	.|.	0.32364|0.32364	N|N	0.556745|0.556745	D|B;B	0.69078|0.30455	0.997|0.28;0.067	D|B;B	0.68483|0.28465	0.958|0.09;0.082	T|T	0.12192|0.12192	-1.0557|-1.0557	7|8	0.87932|0.40728	D|T	0|0.16	-22.7587|-22.7587	11.1036|11.1036	0.48190|0.48190	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	10|24;24	Q9BRV3-2|Q9BRV3-3;Q9BRV3	.|.;SWET1_HUMAN	R|A	10|24	.|.	ENSP00000357386:L10R|ENSP00000306146:S24A	L|S	+|+	2|1	0|0	SLC50A1|SLC50A1	153375081|153375081	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.593000|2.593000	0.46180|0.46180	1.947000|1.947000	0.56498|0.56498	0.533000|0.533000	0.62120|0.62120	CTC|TCC		0.642	SLC50A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085505.1	NM_018845		9	37	0	0	0	0.010729	0	9	37				
KDM5B	10765	broad.mit.edu	37	1	202699065	202699065	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr1:202699065G>C	ENST00000367265.3	-	26	5431	c.4267C>G	c.(4267-4269)Cgg>Ggg	p.R1423G	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1459G	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1423					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R1423G(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CGTTCCCACCGCTCACTGGAG	0.483																																							uc001gyf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|urinary_tract(1)	5						c.(4267-4269)CGG>GGG		jumonji, AT rich interactive domain 1B							121.0	116.0	118.0					1																	202699065		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202699065G>C	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4267C>G	1.37:g.202699065G>C	ENSP00000356234:p.Arg1423Gly					KDM5B_uc009xag.2_Missense_Mutation_p.R1459G|KDM5B_uc001gyg.1_Missense_Mutation_p.R1265G	p.R1423G	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			26	4383	-			1423					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.4267C>G	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289128	0.23478	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.86366	-1.99;-1.8;-2.11	5.23	3.3	0.37823	.	0.585786	0.16979	N	0.191796	T	0.76737	0.4029	N	0.14661	0.345	0.24308	N	0.995097	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.63051	-0.6723	10	0.36615	T	0.2	-18.4277	12.3117	0.54931	0.0:0.0:0.4644:0.5356	.	1459;1423	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	G	1423;1265;1459;1265	ENSP00000356234:R1423G;ENSP00000356233:R1459G;ENSP00000235790:R1265G	ENSP00000235790:R1265G	R	-	1	2	KDM5B	200965688	0.691000	0.27709	0.944000	0.38274	0.987000	0.75469	1.270000	0.33086	0.542000	0.28846	-0.188000	0.12872	CGG		0.483	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		41	116	0	0	0	0.005524	0	41	116				
USH2A	7399	broad.mit.edu	37	1	215823979	215823979	+	Silent	SNP	A	A	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr1:215823979A>G	ENST00000307340.3	-	65	14684	c.14298T>C	c.(14296-14298)agT>agC	p.S4766S	USH2A_ENST00000366943.2_Silent_p.S4766S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4766	Fibronectin type-III 33. {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)	p.S4766S(1)		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)		GCCTGTAGAGACTGACGATCC	0.532										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(14296-14298)AGT>AGC		usherin isoform B							96.0	93.0	94.0					1																	215823979		2203	4300	6503	SO:0001819	synonymous_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.chr1:215823979A>G	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.14298T>C	1.37:g.215823979A>G		HNSCC(13;0.011)					p.S4766S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	65	14685	-			4766			Fibronectin type-III 33.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.14298T>C	CCDS31025.1																																																																																				0.532	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		28	82	0	0	0	0.007291	0	28	82				
UPF2	26019	broad.mit.edu	37	10	11973641	11973641	+	Splice_Site	SNP	T	T	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr10:11973641T>A	ENST00000356352.2	-	19	4160	c.3687A>T	c.(3685-3687)caA>caT	p.Q1229H	UPF2_ENST00000357604.5_Splice_Site_p.Q1229H|UPF2_ENST00000397053.2_Splice_Site_p.Q1229H			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1229	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.Q1229H(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ATTTTATACCTTGATAATCTT	0.338																																							uc001ila.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(3685-3687)CAA>CAT		UPF2 regulator of nonsense transcripts homolog							162.0	150.0	154.0					10																	11973641		2203	4300	6503	SO:0001630	splice_region_variant	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:11973641T>A	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.3688+1A>T	10.37:g.11973641T>A						UPF2_uc001ilb.2_Missense_Mutation_p.Q1229H|UPF2_uc001ilc.2_Missense_Mutation_p.Q1229H	p.Q1229H	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN			19	4161	-		Renal(717;0.228)	1229			Sufficient for interaction with UPF1 C- terminus.|Sufficient for interaction with EIF4A1 and EIF1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.3687A>T	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.794261	0.70452	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.49139	0.79;0.79;0.79	5.97	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	L	0.46157	1.445	0.53005	D	0.999963	D	0.57571	0.98	D	0.69654	0.965	T	0.58685	-0.7593	10	0.72032	D	0.01	.	7.9582	0.30055	0.0:0.1988:0.0:0.8012	.	1229	Q9HAU5	RENT2_HUMAN	H	1229	ENSP00000348708:Q1229H;ENSP00000350221:Q1229H;ENSP00000380244:Q1229H	ENSP00000348708:Q1229H	Q	-	3	2	UPF2	12013647	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	2.934000	0.48956	1.086000	0.41228	0.533000	0.62120	CAA		0.338	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1		Missense_Mutation	36	75	0	0	0	0.004878	0	36	75				
HMX2	3167	broad.mit.edu	37	10	124907981	124907981	+	Silent	SNP	C	C	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr10:124907981C>T	ENST00000339992.3	+	1	344	c.87C>T	c.(85-87)ggC>ggT	p.G29G		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	29					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G29G(1)		endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		TGGGCGGGGGCCCCTCGGAGG	0.701																																							uc001lhc.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(85-87)GGC>GGT		H6 family homeobox 2							20.0	28.0	26.0					10																	124907981		2190	4296	6486	SO:0001819	synonymous_variant	3167				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:124907981C>T		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"""Homeoboxes / ANTP class : NKL subclass"""	5018	protein-coding gene	gene with protein product		600647	"""homeo box (H6 family) 2"""			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.87C>T	10.37:g.124907981C>T							p.G29G	NM_005519	NP_005510	A2RU54	HMX2_HUMAN		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)	1	344	+		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)	29					B2RNV5	Silent	SNP	ENST00000339992.3	37	c.87C>T	CCDS31305.1																																																																																				0.701	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	XM_370580		18	30	0	0	0	0.010504	0	18	30				
EDRF1	26098	broad.mit.edu	37	10	127426974	127426974	+	Silent	SNP	C	C	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr10:127426974C>T	ENST00000356792.4	+	15	2173	c.1941C>T	c.(1939-1941)ccC>ccT	p.P647P	C10orf137_ENST00000337623.3_Silent_p.P613P	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.P613P(1)		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)				GAGGGGGTCCCGAGGGGCTAG	0.438																																							uc001liq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(3)|lung(2)	10						c.(1939-1941)CCC>CCT		erythroid differentiation-related factor 1							61.0	68.0	66.0					10																	127426974		2203	4300	6503	SO:0001819	synonymous_variant	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127426974C>T																												ENST00000356792.4:c.1941C>T	10.37:g.127426974C>T						C10orf137_uc001lin.2_Silent_p.P613P|C10orf137_uc001lio.1_Silent_p.P613P|C10orf137_uc001lip.1_Silent_p.P351P|C10orf137_uc001lir.2_Silent_p.P141P|C10orf137_uc001lis.1_5'Flank	p.P647P	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN			15	2234	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	647					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Silent	SNP	ENST00000356792.4	37	c.1941C>T	CCDS55733.1																																																																																				0.438	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			18	98	0	0	0	0.006122	0	18	98				
OR8H1	219469	broad.mit.edu	37	11	56058356	56058356	+	Silent	SNP	A	A	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr11:56058356A>G	ENST00000313022.2	-	1	210	c.183T>C	c.(181-183)ttT>ttC	p.F61F		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F61F(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GAGTAAGGAAAAAATACATGG	0.393																																							uc010rje.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(181-183)TTT>TTC		olfactory receptor, family 8, subfamily H,							249.0	238.0	242.0					11																	56058356		2201	4296	6497	SO:0001819	synonymous_variant	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058356A>G	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.183T>C	11.37:g.56058356A>G							p.F61F	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			1	183	-	Esophageal squamous(21;0.00448)		61			Helical; Name=2; (Potential).		B2RNI7|Q6IFC5	Silent	SNP	ENST00000313022.2	37	c.183T>C	CCDS31526.1																																																																																				0.393	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		83	142	0	0	0	0.01441	0	83	142				
NDUFV1	4723	broad.mit.edu	37	11	67378532	67378532	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr11:67378532G>A	ENST00000322776.6	+	6	920	c.767G>A	c.(766-768)cGc>cAc	p.R256H	NDUFV1_ENST00000529927.1_Missense_Mutation_p.R247H|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000532303.1_Missense_Mutation_p.R155H|DOC2GP_ENST00000495263.1_RNA|NDUFV1_ENST00000415352.2_Missense_Mutation_p.R249H	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	256					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.R256H(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						ACAATCTGCCGCCGTGGAGGT	0.562																																							uc001omj.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(766-768)CGC>CAC		NADH dehydrogenase ubiquinone flavoprotein 1	NADH(DB00157)						94.0	80.0	84.0					11																	67378532		2200	4294	6494	SO:0001583	missense	4723				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67378532G>A	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.767G>A	11.37:g.67378532G>A	ENSP00000322450:p.Arg256His					NDUFV1_uc010rpv.1_Missense_Mutation_p.R155H|NDUFV1_uc001oml.2_Missense_Mutation_p.R249H|NDUFV1_uc001omk.3_Missense_Mutation_p.R247H|NDUFV1_uc009yrz.1_Missense_Mutation_p.R155H|NDUFV1_uc010rpw.1_5'UTR	p.R256H	NM_007103	NP_009034	P49821	NDUV1_HUMAN			6	920	+			256					O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Missense_Mutation	SNP	ENST00000322776.6	37	c.767G>A	CCDS8173.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460386	0.84317	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000529927;ENST00000415352;ENST00000453836	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.95736	0.8613	H	0.97611	4.04	0.80722	D	1	D;D;D;D	0.89917	0.987;0.999;0.999;1.0	P;D;D;D	0.67725	0.836;0.924;0.924;0.953	D	0.97303	0.9932	10	0.87932	D	0	-21.9091	16.6632	0.85246	0.0:0.0:1.0:0.0	.	155;249;247;256	B4DE93;G3V0I5;P49821-2;P49821	.;.;.;NDUV1_HUMAN	H	256;155;247;249;127	ENSP00000322450:R256H;ENSP00000432015:R155H;ENSP00000436766:R247H;ENSP00000395368:R249H	ENSP00000322450:R256H	R	+	2	0	NDUFV1	67135108	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	9.534000	0.98061	2.506000	0.84524	0.491000	0.48974	CGC		0.562	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103		18	64	0	0	0	0.006122	0	18	64				
SIK2	23235	broad.mit.edu	37	11	111591374	111591374	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr11:111591374A>T	ENST00000304987.3	+	11	1841	c.1668A>T	c.(1666-1668)agA>agT	p.R556S	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	556					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R556S(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TAAGCCTGAGACCTACCAACC	0.537																																							uc001plt.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(1666-1668)AGA>AGT		SNF1-like kinase 2							119.0	116.0	117.0					11																	111591374		2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111591374A>T	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1668A>T	11.37:g.111591374A>T	ENSP00000305976:p.Arg556Ser						p.R556S	NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN			11	1786	+			556					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.1668A>T	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.371266	0.82573	.	.	ENSG00000170145	ENST00000304987	T	0.73575	-0.76	5.53	1.99	0.26369	.	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	L	0.54323	1.7	0.51482	D	0.999928	D	0.55605	0.972	P	0.50136	0.632	T	0.67906	-0.5549	10	0.44086	T	0.13	.	8.5215	0.33279	0.7701:0.0:0.2299:0.0	.	556	Q9H0K1	SIK2_HUMAN	S	556	ENSP00000305976:R556S	ENSP00000305976:R556S	R	+	3	2	SIK2	111096584	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.935000	0.28924	0.185000	0.20105	0.533000	0.62120	AGA		0.537	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		40	81	0	0	0	0.00874	0	40	81				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052						c.(34-36)GGT>GTT		c-K-ras2 protein isoform a precursor							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA	p.G12V	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	216	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		15	17	1	0	3.41278e-10	0.00499	4.4905e-10	15	17				
ADAMTS20	80070	broad.mit.edu	37	12	43837660	43837660	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr12:43837660C>T	ENST00000389420.3	-	16	2223	c.2224G>A	c.(2224-2226)Gca>Aca	p.A742T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A742T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	742	Spacer.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A742T(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTTGCTCCTGCGGGAATCTTT	0.383																																							uc010skx.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(2224-2226)GCA>ACA		a disintegrin-like and metalloprotease with							172.0	170.0	171.0					12																	43837660		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43837660C>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2224G>A	12.37:g.43837660C>T	ENSP00000374071:p.Ala742Thr						p.A742T	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	16	2224	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	742			Spacer.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.2224G>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256259	0.39896	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.55413	0.52;0.52	4.92	-9.84	0.00479	ADAM-TS Spacer 1 (1);	1.598490	0.03630	N	0.237740	T	0.40347	0.1113	M	0.61703	1.905	0.09310	N	1	P	0.35959	0.53	B	0.34180	0.177	T	0.37384	-0.9708	10	0.49607	T	0.09	.	2.6753	0.05079	0.1856:0.3702:0.1049:0.3392	.	742	P59510	ATS20_HUMAN	T	742	ENSP00000374071:A742T;ENSP00000448341:A742T	ENSP00000374068:A742T	A	-	1	0	ADAMTS20	42123927	0.002000	0.14202	0.004000	0.12327	0.918000	0.54935	-0.287000	0.08388	-2.402000	0.00577	-0.894000	0.02916	GCA		0.383	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		64	173	0	0	0	0.01441	0	64	173				
SLC11A2	4891	broad.mit.edu	37	12	51393019	51393019	+	Missense_Mutation	SNP	G	G	A	rs377590166		TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr12:51393019G>A	ENST00000262051.7	-	8	700	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	SLC11A2_ENST00000547688.1_Missense_Mutation_p.R234W|SLC11A2_ENST00000262052.5_Missense_Mutation_p.R205W|SLC11A2_ENST00000547198.1_Missense_Mutation_p.R205W|SLC11A2_ENST00000546743.1_Missense_Mutation_p.R126W|SLC11A2_ENST00000394904.3_Missense_Mutation_p.R234W|SLC11A2_ENST00000545993.2_Missense_Mutation_p.R201W|SLC11A2_ENST00000541174.2_Missense_Mutation_p.R205W	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	205					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.R205W(1)		breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						TCTAGCTTCCGCAAGCCTAAA	0.453																																							uc001rxe.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(613-615)CGG>TGG		solute carrier family 11 (proton-coupled							79.0	78.0	79.0					12																	51393019		2203	4300	6503	SO:0001583	missense	4891				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	g.chr12:51393019G>A	AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.613C>T	12.37:g.51393019G>A	ENSP00000262051:p.Arg205Trp					SLC11A2_uc001rxd.3_Missense_Mutation_p.R54W|SLC11A2_uc001rxc.3_Missense_Mutation_p.R205W|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc010smx.1_Missense_Mutation_p.R201W|SLC11A2_uc001rxh.1_Missense_Mutation_p.R205W|SLC11A2_uc001rxj.1_Missense_Mutation_p.R205W|SLC11A2_uc001rxi.2_Missense_Mutation_p.R205W|SLC11A2_uc001rxk.1_Missense_Mutation_p.R234W|SLC11A2_uc010smy.1_Missense_Mutation_p.R168W	p.R205W	NM_000617	NP_000608	P49281	NRAM2_HUMAN			8	710	-			205			Cytoplasmic (Potential).		B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Missense_Mutation	SNP	ENST00000262051.7	37	c.613C>T	CCDS53792.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439290	0.63067	.	.	ENSG00000110911	ENST00000262051;ENST00000547198;ENST00000262052;ENST00000394904;ENST00000547688;ENST00000541174;ENST00000545993;ENST00000546743;ENST00000546488;ENST00000547579	T;T;T;T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	6.06	0.685	0.18009	.	0.000000	0.85682	D	0.000000	D	0.90477	0.7017	H	0.99357	4.53	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999	D	0.90033	0.4136	10	0.87932	D	0	-16.8838	10.3518	0.43941	0.0635:0.0:0.3823:0.5541	.	168;201;234;205;54;205	B7Z9M2;F5H741;P49281-3;P49281-2;B3KY44;P49281	.;.;.;.;.;NRAM2_HUMAN	W	205;205;205;234;234;205;201;126;123;126	ENSP00000262051:R205W;ENSP00000446769:R205W;ENSP00000262052:R205W;ENSP00000378364:R234W;ENSP00000449200:R234W;ENSP00000444542:R205W;ENSP00000442810:R201W;ENSP00000446914:R126W;ENSP00000450389:R123W;ENSP00000447482:R126W	ENSP00000262051:R205W	R	-	1	2	SLC11A2	49679286	0.988000	0.35896	0.982000	0.44146	0.616000	0.37450	0.898000	0.28404	0.103000	0.17682	0.655000	0.94253	CGG		0.453	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1			4	85	0	0	0	0.009096	0	4	85				
SLITRK1	114798	broad.mit.edu	37	13	84453707	84453707	+	Silent	SNP	G	G	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr13:84453707G>T	ENST00000377084.2	-	1	2821	c.1936C>A	c.(1936-1938)Cga>Aga	p.R646R		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	646					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.R646*(1)|p.R646R(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GACCGCTTTCGGTTCCTCAGG	0.562																																							uc001vlk.2		NA																	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	p.R646*(1)	upper_aerodigestive_tract(1)|lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1936-1938)CGA>AGA		slit and trk like 1 protein precursor							80.0	67.0	71.0					13																	84453707		2203	4300	6503	SO:0001819	synonymous_variant	114798					integral to membrane		g.chr13:84453707G>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1936C>A	13.37:g.84453707G>T							p.R646R	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2822	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	646			Cytoplasmic (Potential).		Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	c.1936C>A	CCDS9464.1																																																																																				0.562	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		15	35	1	0	6.31663e-08	0.003163	7.89578e-08	15	35				
COL4A2	1284	broad.mit.edu	37	13	111154090	111154090	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr13:111154090C>T	ENST00000360467.5	+	41	4142	c.3836C>T	c.(3835-3837)gCa>gTa	p.A1279V	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1279	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.A1279V(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			ATCTCTGGGGCACCTGGTGAC	0.547																																							uc001vqx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.(3835-3837)GCA>GTA		alpha 2 type IV collagen preproprotein							60.0	61.0	61.0					13																	111154090		1889	4110	5999	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111154090C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3836C>T	13.37:g.111154090C>T	ENSP00000353654:p.Ala1279Val						p.A1279V	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		41	4125	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1279			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.3836C>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	5.822	0.335959	0.11013	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.94758	-3.51	5.06	-10.1	0.00402	.	2.320070	0.01985	N	0.045110	D	0.87732	0.6251	N	0.20685	0.6	0.09310	N	1	P	0.39311	0.667	P	0.45232	0.474	T	0.81239	-0.1023	10	0.11794	T	0.64	.	5.9319	0.19144	0.0796:0.3385:0.0804:0.5015	.	1279	P08572	CO4A2_HUMAN	V	1279	ENSP00000353654:A1279V	ENSP00000257309:A1279V	A	+	2	0	COL4A2	109952091	0.000000	0.05858	0.000000	0.03702	0.398000	0.30690	-1.641000	0.02007	-2.305000	0.00654	-0.224000	0.12420	GCA		0.547	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		13	42	0	0	0	0.00499	0	13	42				
NEDD8	4738	broad.mit.edu	37	14	24687421	24687421	+	Splice_Site	SNP	C	C	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr14:24687421C>T	ENST00000250495.5	-	3	253	c.67G>A	c.(67-69)Gtg>Atg	p.V23M	NEDD8-MDP1_ENST00000604306.1_5'UTR|MDP1_ENST00000396833.2_5'Flank|AL136419.6_ENST00000565988.1_RNA|NEDD8_ENST00000524927.1_Splice_Site_p.V23M|MDP1_ENST00000532557.1_5'Flank|MDP1_ENST00000288087.7_5'Flank|NEDD8-MDP1_ENST00000534348.1_Splice_Site_p.V23M	NM_006156.2	NP_006147.1	Q15843	NEDD8_HUMAN	neural precursor cell expressed, developmentally down-regulated 8	23					anatomical structure morphogenesis (GO:0009653)|cellular protein modification process (GO:0006464)|protein localization (GO:0008104)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to organic cyclic compound (GO:0014070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.V23M(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		ATTCGCTCCACCTTTAGAGAG	0.517																																							uc001wnn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(67-69)GTG>ATG		neural precursor cell expressed, developmentally							107.0	95.0	99.0					14																	24687421		2203	4300	6503	SO:0001630	splice_region_variant	4738				anatomical structure morphogenesis|protein neddylation|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin protein ligase binding	g.chr14:24687421C>T	D23662	CCDS9621.1	14q11.2	2008-08-13			ENSG00000129559	ENSG00000129559			7732	protein-coding gene	gene with protein product		603171				9353319	Standard	NM_006156		Approved	Nedd-8		Q15843	OTTHUMG00000029325	ENST00000250495.5:c.67-1G>A	14.37:g.24687421C>T						CHMP4A_uc001wnj.2_5'Flank|MDP1_uc001wnk.1_5'Flank|CHMP4A_uc001wnm.1_5'Flank|MDP1_uc001wnl.1_5'Flank|NEDD8_uc001wno.2_RNA	p.V23M	NM_006156	NP_006147	Q15843	NEDD8_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	3	170	-			23					Q3SXN8|Q6LES6	Missense_Mutation	SNP	ENST00000250495.5	37	c.67G>A	CCDS9621.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167728	0.94768	.	.	ENSG00000255526;ENSG00000129559;ENSG00000129559	ENST00000534348;ENST00000250495;ENST00000524927	T;T;T	0.54071	0.59;0.59;0.59	5.15	5.15	0.70609	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.77253	0.4103	M	0.89840	3.065	0.80722	D	1	D	0.69078	0.997	D	0.67900	0.954	T	0.82364	-0.0494	10	0.87932	D	0	-16.8933	17.5536	0.87884	0.0:1.0:0.0:0.0	.	23	Q15843	NEDD8_HUMAN	M	23	ENSP00000431482:V23M;ENSP00000250495:V23M;ENSP00000448192:V23M	ENSP00000250495:V23M	V	-	1	0	NEDD8-MDP1;NEDD8	23757261	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.351000	0.73022	2.675000	0.91044	0.655000	0.94253	GTG		0.517	NEDD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073146.2	NM_006156	Missense_Mutation	23	62	0	0	0	0.014323	0	23	62				
EIF2AK4	440275	broad.mit.edu	37	15	40284374	40284374	+	Splice_Site	SNP	A	A	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr15:40284374A>G	ENST00000263791.5	+	17	2674		c.e17-1		EIF2AK4_ENST00000382727.2_Splice_Site	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4						cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TTATATTTTTAGGCTGACAGC	0.353																																							uc001zkm.1		NA																	1	Unknown(1)		lung(1)	lung(2)|stomach(1)|skin(1)	4						c.e17-2		eukaryotic translation initiation factor 2 alpha							95.0	90.0	92.0					15																	40284374		1817	4072	5889	SO:0001630	splice_region_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40284374A>G	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2632-1A>G	15.37:g.40284374A>G						EIF2AK4_uc010bbj.1_Splice_Site_p.A579_splice|EIF2AK4_uc001zkn.1_5'UTR	p.A878_splice	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	17	2682	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)						C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Splice_Site	SNP	ENST00000263791.5	37	c.2632_splice	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.490871	0.44249	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	.	.	.	5.51	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8367	0.40973	0.8272:0.1728:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF2AK4	38071666	1.000000	0.71417	0.826000	0.32828	0.738000	0.42128	4.184000	0.58323	1.011000	0.39340	0.523000	0.50628	.		0.353	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1		Intron	3	73	0	0	0	0.004672	0	3	73				
DUOX2	50506	broad.mit.edu	37	15	45405197	45405197	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr15:45405197G>A	ENST00000603300.1	-	3	350	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C	DUOX2_ENST00000389039.6_Missense_Mutation_p.R50C|DUOXA2_ENST00000323030.5_5'Flank	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	50	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.R50C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ACAGCACCACGCTCGTGGTGC	0.677																																							uc010bea.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(148-150)CGT>TGT		dual oxidase 2 precursor							50.0	46.0	47.0					15																	45405197		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45405197G>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.148C>T	15.37:g.45405197G>A	ENSP00000475084:p.Arg50Cys					DUOX2_uc001zun.2_Missense_Mutation_p.R50C|DUOXA2_uc001zuo.2_5'Flank|DUOXA2_uc010beb.2_5'Flank	p.R50C	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	3	351	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	50			Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.148C>T	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688298	0.88639	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.84	5.84	0.93424	.	0.164651	0.51477	D	0.000084	T	0.68128	0.2967	M	0.73598	2.24	0.58432	D	0.999995	P	0.49447	0.924	P	0.51453	0.67	T	0.71689	-0.4517	9	0.72032	D	0.01	-1.4355	14.0101	0.64490	0.0:0.0:0.8489:0.151	.	50	Q9NRD8	DUOX2_HUMAN	C	50	.	ENSP00000373691:R50C	R	-	1	0	DUOX2	43192489	0.000000	0.05858	0.914000	0.36105	0.925000	0.55904	0.540000	0.23191	2.768000	0.95171	0.561000	0.74099	CGT		0.677	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		15	42	0	0	0	0.004007	0	15	42				
ANKDD1A	348094	broad.mit.edu	37	15	65208038	65208038	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr15:65208038A>G	ENST00000380230.3	+	2	106	c.77A>G	c.(76-78)aAc>aGc	p.N26S	ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.N26S|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.N26S|ANKDD1A_ENST00000496660.1_Intron|ANKDD1A_ENST00000319580.8_Intron|AC069368.3_ENST00000437723.1_Intron	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	26					signal transduction (GO:0007165)			p.N26S(1)		NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GCCCGCCAGAACAATGTCGGC	0.597																																							uc002aoa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(76-78)AAC>AGC		ankyrin repeat and death domain containing 1A							37.0	41.0	40.0					15																	65208038		1941	4134	6075	SO:0001583	missense	348094				signal transduction			g.chr15:65208038A>G		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.77A>G	15.37:g.65208038A>G	ENSP00000369579:p.Asn26Ser					ANKDD1A_uc002anx.1_Missense_Mutation_p.N26S|ANKDD1A_uc002any.2_5'UTR|ANKDD1A_uc002anz.2_Intron|ANKDD1A_uc002aob.2_5'UTR	p.N26S	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN			2	106	+			26			ANK 1.		Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.77A>G	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	A	12.39	1.922744	0.33908	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720	T;T;T	0.16743	2.32;2.32;2.32	3.94	1.62	0.23740	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.25644	0.0624	L	0.41710	1.295	0.09310	N	0.999999	D;D	0.65815	0.995;0.994	D;P	0.65140	0.932;0.888	T	0.09143	-1.0688	9	0.72032	D	0.01	-17.0319	5.2862	0.15702	0.7583:0.0:0.2417:0.0	.	26;26	Q495B1;Q495B1-1	AKD1A_HUMAN;.	S	26	ENSP00000369579:N26S;ENSP00000350329:N26S;ENSP00000379070:N26S	ENSP00000350329:N26S	N	+	2	0	ANKDD1A	62995091	0.980000	0.34600	0.001000	0.08648	0.510000	0.34073	3.881000	0.56152	0.152000	0.19188	0.397000	0.26171	AAC		0.597	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		12	41	0	0	0	0.010729	0	12	41				
MEX3B	84206	broad.mit.edu	37	15	82336228	82336228	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr15:82336228G>A	ENST00000329713.4	-	2	1418	c.983C>T	c.(982-984)gCg>gTg	p.A328V	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	328					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A328V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						TCCGTTGTGCGCAAAGCTCAG	0.647																																							uc002bgq.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|kidney(1)	2						c.(982-984)GCG>GTG		mex-3 homolog B							50.0	56.0	54.0					15																	82336228		2195	4265	6460	SO:0001583	missense	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82336228G>A	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.983C>T	15.37:g.82336228G>A	ENSP00000329918:p.Ala328Val						p.A328V	NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN			2	1298	-			328					Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	ENST00000329713.4	37	c.983C>T	CCDS10319.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726900	0.48833	.	.	ENSG00000183496	ENST00000329713	T	0.22743	1.94	4.92	3.99	0.46301	.	0.323970	0.29410	N	0.012230	T	0.10680	0.0261	N	0.08118	0	0.80722	D	1	B	0.27498	0.18	B	0.17098	0.017	T	0.13818	-1.0495	10	0.33940	T	0.23	-19.1064	12.6774	0.56901	0.0:0.0:0.8346:0.1654	.	328	Q6ZN04	MEX3B_HUMAN	V	328	ENSP00000329918:A328V	ENSP00000329918:A328V	A	-	2	0	MEX3B	80123283	1.000000	0.71417	0.847000	0.33407	0.959000	0.62525	3.303000	0.51858	1.261000	0.44149	0.563000	0.77884	GCG		0.647	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		33	86	0	0	0	0.004878	0	33	86				
PCSK6	5046	broad.mit.edu	37	15	101971641	101971641	+	Missense_Mutation	SNP	G	G	A	rs376291078		TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr15:101971641G>A	ENST00000348070.1	-	5	537	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	PCSK6_ENST00000358417.3_Missense_Mutation_p.R180W|PCSK6_ENST00000331826.7_Missense_Mutation_p.R15W|PCSK6_ENST00000344273.2_Missense_Mutation_p.R180W|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.R180W	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	181					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.R180W(3)|p.R15W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATTTCCGACCGGCAGCGACTG	0.527																																							uc002bwy.2		NA																	4	Substitution - Missense(4)		lung(4)	pancreas(2)	2						c.(541-543)CGG>TGG		paired basic amino acid cleaving system 4		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4157		0,1,2078	62.0	63.0	63.0		539,539,539,539,539,539,539,539	4.7	1.0	15		63	0,8430		0,0,4215	no	missense,missense,missense,missense,missense,missense,missense,missense	PCSK6	NM_002570.3,NM_138319.2,NM_138320.1,NM_138321.1,NM_138322.2,NM_138323.1,NM_138324.1,NM_138325.2	101,101,101,101,101,101,101,101	0,1,6293	AA,AG,GG		0.0,0.0241,0.0079	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	181/970,181/957,181/976,181/963,181/488,181/624,181/653,181/665	101971641	1,12587	2079	4215	6294	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101971641G>A		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.538C>T	15.37:g.101971641G>A	ENSP00000305056:p.Arg180Trp					PCSK6_uc010bpd.2_Missense_Mutation_p.R51W|PCSK6_uc010bpe.2_Missense_Mutation_p.R181W|PCSK6_uc002bxa.2_Missense_Mutation_p.R181W|PCSK6_uc002bxb.2_Missense_Mutation_p.R181W|PCSK6_uc002bxc.1_Missense_Mutation_p.R181W|PCSK6_uc002bxd.1_Missense_Mutation_p.R181W|PCSK6_uc002bxe.2_Missense_Mutation_p.R181W|PCSK6_uc002bxg.1_Missense_Mutation_p.R181W	p.R181W	NM_002570	NP_002561	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		5	855	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		181			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.541C>T		.	.	.	.	.	.	.	.	.	.	G	20.2	3.952042	0.73787	2.41E-4	0.0	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	T;T;T;T;T	0.81163	0.89;0.89;0.89;0.89;-1.46	5.67	4.71	0.59529	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.064020	0.64402	D	0.000012	D	0.87132	0.6101	M	0.63843	1.955	0.46631	D	0.999133	D;D;D;B;D;B;D;D;D	0.89917	1.0;1.0;0.999;0.135;0.999;0.083;1.0;1.0;0.999	D;D;P;B;P;B;D;D;D	0.79784	0.993;0.928;0.889;0.022;0.786;0.01;0.978;0.982;0.929	D	0.87418	0.2380	10	0.62326	D	0.03	-29.8521	13.2041	0.59785	0.0:0.0:0.6959:0.3041	.	181;86;180;181;180;180;181;181;180	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	W	180;180;85;180;180;15	ENSP00000305056:R180W;ENSP00000351193:R180W;ENSP00000344410:R180W;ENSP00000381243:R180W;ENSP00000332052:R15W	ENSP00000332052:R15W	R	-	1	2	PCSK6	99789164	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	3.256000	0.51492	2.692000	0.91855	0.655000	0.94253	CGG		0.527	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		11	18	0	0	0	0.010729	0	11	18				
MEFV	4210	broad.mit.edu	37	16	3304666	3304666	+	Silent	SNP	C	C	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr16:3304666C>T	ENST00000219596.1	-	2	441	c.402G>A	c.(400-402)ccG>ccA	p.P134P	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	134					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.P134P(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CGCCCCCGTACGGCCGAGGGC	0.697																																							uc002cun.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(400-402)CCG>CCA		Mediterranean fever protein	Colchicine(DB01394)						16.0	18.0	17.0					16																	3304666		2178	4252	6430	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3304666C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.402G>A	16.37:g.3304666C>T							p.P134P	NM_000243	NP_000234	O15553	MEFV_HUMAN			2	442	-			134					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.402G>A	CCDS10498.1																																																																																				0.697	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		11	28	0	0	0	0.010729	0	11	28				
UBN1	29855	broad.mit.edu	37	16	4920917	4920917	+	Silent	SNP	A	A	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr16:4920917A>G	ENST00000396658.4	+	10	2206	c.1503A>G	c.(1501-1503)aaA>aaG	p.K501K	UBN1_ENST00000590769.1_Silent_p.K501K|UBN1_ENST00000545171.1_Silent_p.K501K|UBN1_ENST00000262376.6_Silent_p.K501K	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	501					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K501K(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATGAAGAAAAAGGGGGCAGGA	0.522																																							uc002cyb.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1501-1503)AAA>AAG		ubinuclein 1							72.0	71.0	72.0					16																	4920917		2197	4300	6497	SO:0001819	synonymous_variant	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4920917A>G	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.1503A>G	16.37:g.4920917A>G						UBN1_uc010uxw.1_Silent_p.K501K|UBN1_uc002cyc.2_Silent_p.K501K	p.K501K	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN			11	1842	+			501			Potential.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	c.1503A>G	CCDS10525.1																																																																																				0.522	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		3	61	0	0	0	0.004672	0	3	61				
UBFD1	56061	broad.mit.edu	37	16	23569456	23569456	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr16:23569456G>A	ENST00000395878.3	+	2	592	c.211G>A	c.(211-213)Gtc>Atc	p.V71I	UBFD1_ENST00000567212.1_Missense_Mutation_p.V62I|UBFD1_ENST00000219638.4_Missense_Mutation_p.V295I|UBFD1_ENST00000571064.1_3'UTR|EARS2_ENST00000563459.1_5'Flank|EARS2_ENST00000564501.1_5'Flank|EARS2_ENST00000563232.1_5'Flank|EARS2_ENST00000449606.1_5'Flank|UBFD1_ENST00000567264.1_Missense_Mutation_p.V71I	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	71							poly(A) RNA binding (GO:0044822)	p.V71I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		CCAGGCCTCGGTCAGCAACGG	0.731																																					Melanoma(22;290 1069 22358 48158)	Melanoma(22;290 1069 22358 48158)	uc002dlv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(211-213)GTC>ATC		ubiquitin-binding protein homolog							19.0	21.0	21.0					16																	23569456		1810	4009	5819	SO:0001583	missense	56061							g.chr16:23569456G>A	AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"""ubiquitin-binding protein homolog"""					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.211G>A	16.37:g.23569456G>A	ENSP00000379217:p.Val71Ile					EARS2_uc002dls.3_5'Flank|EARS2_uc002dlt.3_5'Flank|EARS2_uc002dlu.2_5'Flank	p.V71I	NM_019116	NP_061989	O14562	UBFD1_HUMAN		GBM - Glioblastoma multiforme(48;0.0331)	2	413	+			71					A8MW58|D3DWF2	Missense_Mutation	SNP	ENST00000395878.3	37	c.211G>A	CCDS10613.2	.	.	.	.	.	.	.	.	.	.	G	15.11	2.734657	0.48939	.	.	ENSG00000103353	ENST00000219638;ENST00000395878	.	.	.	4.19	4.19	0.49359	.	0.140508	0.49916	D	0.000127	T	0.44371	0.1290	N	0.19112	0.55	0.46521	D	0.99908	B	0.18310	0.027	B	0.11329	0.006	T	0.43782	-0.9370	9	0.56958	D	0.05	-11.3731	15.8942	0.79323	0.0:0.0:1.0:0.0	.	71	O14562	UBFD1_HUMAN	I	295;71	.	ENSP00000219638:V295I	V	+	1	0	UBFD1	23476957	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.820000	0.62671	2.036000	0.60181	0.460000	0.39030	GTC		0.731	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250795.2	NM_019116		18	29	0	0	0	0.008871	0	18	29				
PRMT7	54496	broad.mit.edu	37	16	68389759	68389759	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr16:68389759G>A	ENST00000339507.5	+	17	2614	c.1784G>A	c.(1783-1785)tGt>tAt	p.C595Y	PRMT7_ENST00000348497.4_Missense_Mutation_p.C447Y|PRMT7_ENST00000441236.1_Missense_Mutation_p.C545Y|PRMT7_ENST00000449359.3_Missense_Mutation_p.C545Y			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	595	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.C595Y(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CAGCCCCTGTGTGCCGAGGGC	0.687																																							uc002evy.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1783-1785)TGT>TAT		protein arginine methyltransferase 7							26.0	25.0	25.0					16																	68389759		2197	4298	6495	SO:0001583	missense	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68389759G>A	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.1784G>A	16.37:g.68389759G>A	ENSP00000343103:p.Cys595Tyr					PRMT7_uc010vlg.1_Missense_Mutation_p.C545Y|PRMT7_uc002evz.1_Missense_Mutation_p.C367Y|PRMT7_uc010cfd.1_Missense_Mutation_p.C87Y	p.C595Y	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	17	2060	+		Ovarian(137;0.192)	595					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	c.1784G>A	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714819	0.30413	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.95	-1.79	0.07932	.	0.581739	0.20699	N	0.087305	T	0.13157	0.0319	L	0.29908	0.895	0.09310	N	1	B;B;B	0.14438	0.002;0.01;0.002	B;B;B	0.08055	0.003;0.002;0.002	T	0.19289	-1.0310	10	0.59425	D	0.04	0.0017	9.7058	0.40214	0.5746:0.0:0.4254:0.0	.	545;447;595	Q9NVM4-3;Q9NVM4-2;Q9NVM4	.;.;ANM7_HUMAN	Y	545;545;447;595	ENSP00000414716:C545Y;ENSP00000409324:C545Y;ENSP00000345775:C447Y;ENSP00000343103:C595Y	ENSP00000343103:C595Y	C	+	2	0	PRMT7	66947260	0.839000	0.29477	0.000000	0.03702	0.001000	0.01503	0.878000	0.28126	-0.297000	0.08934	-0.794000	0.03295	TGT		0.687	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		7	19	0	0	0	0.001984	0	7	19				
DSG4	147409	broad.mit.edu	37	18	28991295	28991295	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr18:28991295G>A	ENST00000308128.4	+	15	2374	c.2239G>A	c.(2239-2241)Gca>Aca	p.A747T	DSG4_ENST00000359747.4_Missense_Mutation_p.A766T|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	747					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A747T(1)|p.A766T(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTCATggccgcaggggccgc	0.612																																							uc002kwq.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(3)	8						c.(2239-2241)GCA>ACA		desmoglein 4 isoform 2 preproprotein							55.0	54.0	54.0					18																	28991295		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28991295G>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2239G>A	18.37:g.28991295G>A	ENSP00000311859:p.Ala747Thr					DSG4_uc002kwr.2_Missense_Mutation_p.A766T	p.A747T	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2374	+			747			Cytoplasmic (Potential).		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2239G>A	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	9.416	1.081746	0.20309	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.54479	0.57;0.57	5.97	3.21	0.36854	.	1.875210	0.03665	N	0.243122	T	0.47303	0.1438	L	0.46157	1.445	0.09310	N	1	B;B	0.19445	0.035;0.036	B;B	0.15870	0.014;0.012	T	0.23013	-1.0200	10	0.33141	T	0.24	.	6.4264	0.21772	0.2094:0.1314:0.6592:0.0	.	766;747	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	T	747;766	ENSP00000311859:A747T;ENSP00000352785:A766T	ENSP00000311859:A747T	A	+	1	0	DSG4	27245293	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.646000	0.24797	0.413000	0.25759	-0.727000	0.03589	GCA		0.612	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		4	67	0	0	0	0.009096	0	4	67				
ZNF536	9745	broad.mit.edu	37	19	30935693	30935693	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr19:30935693C>A	ENST00000355537.3	+	2	1371	c.1224C>A	c.(1222-1224)gaC>gaA	p.D408E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	408					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.D408E(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCCCAGCGACCCCGAGGTGC	0.632																																							uc002nsu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1222-1224)GAC>GAA		zinc finger protein 536							47.0	48.0	48.0					19																	30935693		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935693C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1224C>A	19.37:g.30935693C>A	ENSP00000347730:p.Asp408Glu					ZNF536_uc010edd.1_Missense_Mutation_p.D408E	p.D408E	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1362	+	Esophageal squamous(110;0.0834)		408					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1224C>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.912722	0.00056	.	.	ENSG00000198597	ENST00000355537	T	0.07327	3.2	5.44	2.04	0.26737	.	0.163089	0.53938	N	0.000049	T	0.03477	0.0100	N	0.12182	0.205	0.26396	N	0.976498	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44345	-0.9334	10	0.13470	T	0.59	-26.2403	4.2271	0.10585	0.109:0.5599:0.1585:0.1726	.	408;408	A7E228;O15090	.;ZN536_HUMAN	E	408	ENSP00000347730:D408E	ENSP00000347730:D408E	D	+	3	2	ZNF536	35627533	0.975000	0.34042	0.861000	0.33841	0.944000	0.59088	0.443000	0.21644	0.230000	0.21059	0.591000	0.81541	GAC		0.632	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		14	56	1	0	1.05317e-09	0.00245	1.36186e-09	14	56				
CYP2A6	1548	broad.mit.edu	37	19	41351918	41351918	+	Missense_Mutation	SNP	C	C	T	rs372113929		TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr19:41351918C>T	ENST00000301141.5	-	6	936	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	306					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.V306I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GTGGTGCTGACGGTCTCGGTG	0.597																																							uc002opl.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(916-918)GTC>ATC		cytochrome P450, family 2, subfamily A,	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	C	ILE/VAL	1,4405		0,1,2202	111.0	95.0	100.0		916	1.3	0.2	19		100	0,8600		0,0,4300	no	missense	CYP2A6	NM_000762.5	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	306/495	41351918	1,13005	2203	4300	6503	SO:0001583	missense	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41351918C>T	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.916G>A	19.37:g.41351918C>T	ENSP00000301141:p.Val306Ile					CYP2A6_uc010ehe.1_Missense_Mutation_p.V102I|CYP2A6_uc010ehf.1_RNA	p.V306I	NM_000762	NP_000753	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		6	937	-			306					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.916G>A	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	7.912	0.736769	0.15574	2.27E-4	0.0	ENSG00000255974	ENST00000301141	T	0.01295	5.04	2.44	1.34	0.21922	.	0.149292	0.46145	U	0.000313	T	0.01627	0.0052	L	0.31926	0.97	0.21861	N	0.999503	B;B	0.19445	0.036;0.02	B;B	0.30716	0.091;0.119	T	0.43475	-0.9389	10	0.56958	D	0.05	.	8.4127	0.32653	0.0:0.8655:0.0:0.1345	.	306;306	Q13120;P11509	.;CP2A6_HUMAN	I	306	ENSP00000301141:V306I	ENSP00000301141:V306I	V	-	1	0	CYP2A6	46043758	0.612000	0.27000	0.192000	0.23308	0.406000	0.30931	1.068000	0.30629	0.302000	0.22762	0.379000	0.24179	GTC		0.597	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		27	63	0	0	0	0.00632	0	27	63				
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1411							ion channel inhibitor activity (GO:0008200)	p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383																																							uc002suz.1		NA																	9	Substitution - Missense(9)		kidney(6)|lung(3)		NA						c.(1312-1314)CAT>CGT		SubName: Full=Putative uncharacterized protein ENSP00000312008; Flags: Fragment;																																				SO:0001583	missense	0							g.chr2:96521777T>C	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4232A>G	2.37:g.96521777T>C	ENSP00000403302:p.His1411Arg						p.H438R							31	2790	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1313A>G		.	.	.	.	.	.	.	.	.	.	t	1.211	-0.629664	0.03610	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.13196	2.61;2.61;2.61	1.87	0.665	0.17896	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.15870	0.014	T	0.42666	-0.9438	9	0.15952	T	0.53	.	1.8453	0.03158	0.2739:0.1735:0.0:0.5526	.	1411	Q5JPF3	AN36C_HUMAN	R	662;1411;438	ENSP00000415231:H662R;ENSP00000403302:H1411R;ENSP00000407838:H438R	ENSP00000407838:H438R	H	-	2	0	AC073995.2	95885504	1.000000	0.71417	0.011000	0.14972	0.003000	0.03518	1.050000	0.30404	0.187000	0.20147	-0.818000	0.03119	CAT		0.383	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	48	0	0	0	0.009096	0	3	48				
GPR45	11250	broad.mit.edu	37	2	105859409	105859409	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr2:105859409G>A	ENST00000258456.1	+	1	1210	c.1094G>A	c.(1093-1095)tGc>tAc	p.C365Y		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	365						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C365Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GTCTACGTGTGCAATGAAAAC	0.602																																							uc002tco.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1093-1095)TGC>TAC		G protein-coupled receptor 45							65.0	67.0	66.0					2																	105859409		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105859409G>A	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.1094G>A	2.37:g.105859409G>A	ENSP00000258456:p.Cys365Tyr						p.C365Y	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	1210	+			365			Cytoplasmic (Potential).		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.1094G>A	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318971	0.60524	.	.	ENSG00000135973	ENST00000258456	T	0.73047	-0.71	4.84	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.79405	0.4440	L	0.52573	1.65	0.54753	D	0.999988	D	0.89917	1.0	D	0.77557	0.99	T	0.81638	-0.0842	10	0.87932	D	0	-33.4705	13.7516	0.62910	0.0:0.0:0.8445:0.1555	.	365	Q9Y5Y3	GPR45_HUMAN	Y	365	ENSP00000258456:C365Y	ENSP00000258456:C365Y	C	+	2	0	GPR45	105225841	1.000000	0.71417	0.510000	0.27712	0.975000	0.68041	6.167000	0.71902	1.391000	0.46566	0.456000	0.33151	TGC		0.602	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		30	81	0	0	0	0.008361	0	30	81				
PLCL1	5334	broad.mit.edu	37	2	198950357	198950357	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr2:198950357T>G	ENST00000428675.1	+	2	2514	c.2116T>G	c.(2116-2118)Tac>Gac	p.Y706D	PLCL1_ENST00000437704.2_Missense_Mutation_p.Y608D	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	706					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.Y706D(1)|p.Y608D(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGAAGTTTCTTACTTCAGCGC	0.483																																							uc010fsp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2116-2118)TAC>GAC		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						91.0	91.0	91.0					2																	198950357		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950357T>G	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2116T>G	2.37:g.198950357T>G	ENSP00000402861:p.Tyr706Asp					PLCL1_uc002uuv.3_Missense_Mutation_p.Y627D	p.Y706D	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	2407	+			706					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2116T>G	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	T	16.42	3.116968	0.56505	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.16743	2.32;2.34	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.332881	0.26180	N	0.025879	T	0.32793	0.0841	L	0.47078	1.49	0.80722	D	1	D;D	0.63046	0.992;0.992	D;P	0.63793	0.918;0.899	T	0.01146	-1.1437	9	.	.	.	.	15.5299	0.75952	0.0:0.0:0.0:1.0	.	706;632	Q15111;B4DYZ4	PLCL1_HUMAN;.	D	706;608	ENSP00000402861:Y706D;ENSP00000414138:Y608D	.	Y	+	1	0	PLCL1	198658602	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.857000	0.86963	2.254000	0.74563	0.459000	0.35465	TAC		0.483	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		60	114	0	0	0	0.01441	0	60	114				
DNMT3B	1789	broad.mit.edu	37	20	31374365	31374365	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr20:31374365C>T	ENST00000328111.2	+	5	685	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R122C|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R134C|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R122C|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R122C	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	122	Interaction with DNMT1 and DNMT3A.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.R134C(1)|p.R122C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTTCCCCACGTTCCACCCG	0.632																																							uc002wyc.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)	5						c.(364-366)CGT>TGT		DNA cytosine-5 methyltransferase 3 beta isoform							68.0	66.0	66.0					20																	31374365		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31374365C>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.364C>T	20.37:g.31374365C>T	ENSP00000328547:p.Arg122Cys					DNMT3B_uc010ztx.1_Intron|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.2_Missense_Mutation_p.R122C|DNMT3B_uc002wye.2_Missense_Mutation_p.R122C|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Intron|DNMT3B_uc010zua.1_Intron|DNMT3B_uc002wyf.2_Missense_Mutation_p.R134C	p.R122C	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN			5	685	+			122			Interaction with DNMT1 and DNMT3A.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.364C>T	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956692	0.34565	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000344505;ENST00000201963	D;D;D;D;D	0.98455	-4.71;-4.92;-4.85;-4.8;-4.94	4.84	3.86	0.44501	.	0.246993	0.38326	N	0.001738	D	0.97390	0.9146	L	0.27053	0.805	0.23095	N	0.998309	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;P;P;P	0.85130	0.997;0.878;0.862;0.792	D	0.92770	0.6231	10	0.46703	T	0.11	-6.5354	9.8664	0.41145	0.2125:0.7875:0.0:0.0	.	134;122;122;122	Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;DNM3B_HUMAN	C	122;208;122;122;122;134	ENSP00000328547:R122C;ENSP00000313397:R122C;ENSP00000337764:R122C;ENSP00000345105:R122C;ENSP00000201963:R134C	ENSP00000201963:R134C	R	+	1	0	DNMT3B	30838026	0.456000	0.25744	0.018000	0.16275	0.031000	0.12232	1.919000	0.40015	1.211000	0.43351	0.561000	0.74099	CGT		0.632	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		16	58	0	0	0	0.006122	0	16	58				
MYH7B	57644	broad.mit.edu	37	20	33570262	33570262	+	Splice_Site	SNP	C	C	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr20:33570262C>T	ENST00000262873.7	+	8	746	c.654C>T	c.(652-654)acC>acT	p.T218T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	176	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.T218T(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GTCGTCCAAGCGGAGAGTCGG	0.602																																							uc002xbi.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(652-654)ACC>ACT		myosin, heavy polypeptide 7B, cardiac muscle,							49.0	53.0	52.0					20																	33570262		2015	4192	6207	SO:0001630	splice_region_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33570262C>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.654-1C>T	20.37:g.33570262C>T							p.T218T	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		8	746	+			176			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	ENST00000262873.7	37	c.654C>T	CCDS42869.1																																																																																				0.602	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884	Silent	8	26	0	0	0	0.004482	0	8	26				
MORC3	23515	broad.mit.edu	37	21	37741350	37741350	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr21:37741350C>G	ENST00000400485.1	+	15	1760	c.1684C>G	c.(1684-1686)Cag>Gag	p.Q562E	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	562					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)	p.Q562E(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						ATTGAGTAGTCAGTTTGAAAA	0.323																																							uc002yvi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1684-1686)CAG>GAG		MORC family CW-type zinc finger 3							73.0	65.0	68.0					21																	37741350		1866	4109	5975	SO:0001583	missense	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37741350C>G	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1684C>G	21.37:g.37741350C>G	ENSP00000383333:p.Gln562Glu						p.Q562E	NM_015358	NP_056173	Q14149	MORC3_HUMAN			15	1760	+			562					A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.1684C>G	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	C	2.264	-0.368498	0.05069	.	.	ENSG00000159256	ENST00000400485	T	0.13657	2.57	4.8	3.91	0.45181	.	1.720050	0.02598	N	0.100770	T	0.15176	0.0366	L	0.40543	1.245	0.09310	N	1	B	0.18461	0.028	B	0.15870	0.014	T	0.28964	-1.0027	10	0.26408	T	0.33	-4.9708	9.8998	0.41340	0.1456:0.7771:0.0:0.0773	.	562	Q14149	MORC3_HUMAN	E	562	ENSP00000383333:Q562E	ENSP00000383333:Q562E	Q	+	1	0	MORC3	36663220	0.629000	0.27146	0.151000	0.22473	0.938000	0.57974	2.816000	0.48026	1.337000	0.45525	0.491000	0.48974	CAG		0.323	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		3	39	0	0	0	0.004672	0	3	39				
XRN1	54464	broad.mit.edu	37	3	142137373	142137373	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr3:142137373G>A	ENST00000264951.4	-	12	1436	c.1319C>T	c.(1318-1320)aCg>aTg	p.T440M	XRN1_ENST00000463916.1_Missense_Mutation_p.T440M|XRN1_ENST00000392981.2_Missense_Mutation_p.T440M|RNU1-100P_ENST00000365255.1_RNA|XRN1_ENST00000544157.1_Missense_Mutation_p.T230M	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	440					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.T440M(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CCCCATCTTCGTCATGTAATA	0.299																																							uc003eus.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1318-1320)ACG>ATG		5'-3' exoribonuclease 1 isoform a							159.0	155.0	156.0					3																	142137373		2203	4299	6502	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142137373G>A	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1319C>T	3.37:g.142137373G>A	ENSP00000264951:p.Thr440Met					XRN1_uc003eut.2_Missense_Mutation_p.T440M|XRN1_uc003euu.2_Missense_Mutation_p.T440M|XRN1_uc003euv.1_Missense_Mutation_p.T301M|XRN1_uc003euw.2_Missense_Mutation_p.T440M|XRN1_uc011bnh.1_Missense_Mutation_p.T230M	p.T440M	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN			12	1386	-			440					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.1319C>T	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766889	0.90020	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000544157	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.86335	0.5908	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.978;0.996;0.994	D;P;P;P;P	0.72982	0.979;0.855;0.608;0.827;0.676	D	0.86610	0.1872	10	0.54805	T	0.06	-9.6643	19.3805	0.94530	0.0:0.0:1.0:0.0	.	230;440;301;440;440	B4E2K3;Q8IZH2-3;B3KW17;Q8IZH2-2;Q8IZH2	.;.;.;.;XRN1_HUMAN	M	440;440;440;230	ENSP00000264951:T440M;ENSP00000376707:T440M;ENSP00000418404:T440M;ENSP00000444310:T230M	ENSP00000264951:T440M	T	-	2	0	XRN1	143620063	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	6.687000	0.74552	2.564000	0.86499	0.467000	0.42956	ACG		0.299	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		14	52	0	0	0	0.004007	0	14	52				
SDHAP1	255812	broad.mit.edu	37	3	195701331	195701331	+	RNA	SNP	G	G	A	rs78212497		TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr3:195701331G>A	ENST00000427841.1	-	0	1493					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		GTCCAATAGCGAGTTTGCCCC	0.592																																					Ovarian(67;1158 1227 12109 20189 43170)	Ovarian(67;1158 1227 12109 20189 43170)	uc011btq.1		NA																	0					0						c.(532-534)TCG>TTG		SubName: Full=cDNA FLJ56858, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);																																						255812							g.chr3:195701331G>A	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195701331G>A						SDHAP1_uc003fvx.3_RNA|SDHAP1_uc011btp.1_RNA	p.S178L							8	1162	-									Missense_Mutation	SNP	ENST00000427841.1	37	c.533C>T																																																																																					0.592	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			9	54	0	0	0	0.006214	0	9	54				
CXCL6	6372	broad.mit.edu	37	4	74702790	74702790	+	Silent	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr4:74702790G>A	ENST00000226317.5	+	2	473	c.219G>A	c.(217-219)ccG>ccA	p.P73P	CXCL6_ENST00000515050.1_Silent_p.P73P	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	73					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)	p.P73P(1)		large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CCGCAGGCCCGCAGTGCTCCA	0.542																																							uc003hhf.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(217-219)CCG>CCA		chemokine (C-X-C motif) ligand 6 (granulocyte							100.0	132.0	121.0					4																	74702790		2203	4300	6503	SO:0001819	synonymous_variant	6372				cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	g.chr4:74702790G>A	U83303	CCDS3560.1	4q13.3	2013-02-25	2012-10-17	2002-08-23	ENSG00000124875	ENSG00000124875		"""Endogenous ligands"""	10643	protein-coding gene	gene with protein product	"""granulocyte chemotactic protein 2"""	138965	"""small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)"", ""chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)"""	SCYB6		9465307	Standard	NM_002993		Approved	GCP-2, CKA-3	uc003hhf.3	P80162	OTTHUMG00000130010	ENST00000226317.5:c.219G>A	4.37:g.74702790G>A						IL8_uc011cbh.1_Intron	p.P73P	NM_002993	NP_002984	P80162	CXCL6_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	414	+	Breast(15;0.00102)		73					B2R4X3|Q4W5D4	Silent	SNP	ENST00000226317.5	37	c.219G>A	CCDS3560.1																																																																																				0.542	CXCL6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252283.2	NM_002993		4	76	0	0	0	0.009096	0	4	76				
NAA11	84779	broad.mit.edu	37	4	80246366	80246366	+	Silent	SNP	T	T	C			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr4:80246366T>C	ENST00000286794.4	-	1	838	c.666A>G	c.(664-666)tcA>tcG	p.S222S	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	222					N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)	p.S222S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						CCGAGCTTTCTGAGCTGTCCT	0.537																																							uc003hlt.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(664-666)TCA>TCG		alpha-N-acetyltransferase 1B							59.0	62.0	61.0					4																	80246366		2089	4221	6310	SO:0001819	synonymous_variant	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80246366T>C		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.666A>G	4.37:g.80246366T>C							p.S222S	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN			1	806	-			222					Q66K19|Q6P479	Silent	SNP	ENST00000286794.4	37	c.666A>G	CCDS47084.1																																																																																				0.537	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			6	24	0	0	0	0.001168	0	6	24				
DKK2	27123	broad.mit.edu	37	4	107846995	107846995	+	Nonsense_Mutation	SNP	G	G	A	rs528677483		TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr4:107846995G>A	ENST00000285311.3	-	2	1039	c.334C>T	c.(334-336)Cga>Tga	p.R112*	DKK2_ENST00000513208.1_Nonsense_Mutation_p.R12*|DKK2_ENST00000510463.1_Nonsense_Mutation_p.R66*	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	112	DKK-type Cys-1.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.R112*(1)|p.R112G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ATGCCATCTCGGTGGCAGCGC	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18074	0.0		0.0	False		,,,				2504	0.0						uc003hyi.2		NA																	2	Substitution - Nonsense(1)|Substitution - Missense(1)	p.R112G(1)	ovary(1)|lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(334-336)CGA>TGA		dickkopf homolog 2 precursor							177.0	162.0	167.0					4																	107846995		2203	4300	6503	SO:0001587	stop_gained	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107846995G>A	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.334C>T	4.37:g.107846995G>A	ENSP00000285311:p.Arg112*					DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Nonsense_Mutation_p.R112*	p.R112*	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	2	1039	-		Hepatocellular(203;0.217)	112			DKK-type Cys-1.		A0AVE9|B2R6S7|Q9UIU3	Nonsense_Mutation	SNP	ENST00000285311.3	37	c.334C>T	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819262	0.90873	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	.	.	.	5.42	-2.84	0.05751	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7364	19.6666	0.95895	0.0:0.0:0.6583:0.3417	.	.	.	.	X	112;12;66	.	ENSP00000285311:R112X	R	-	1	2	DKK2	108066444	0.905000	0.30787	0.213000	0.23690	0.983000	0.72400	1.314000	0.33597	-0.155000	0.11098	0.467000	0.42956	CGA		0.493	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			8	209	0	0	0	0.006214	0	8	209				
METTL14	57721	broad.mit.edu	37	4	119626806	119626806	+	Missense_Mutation	SNP	G	G	T	rs202042363		TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr4:119626806G>T	ENST00000388822.5	+	10	1063	c.896G>T	c.(895-897)aGc>aTc	p.S299I	METTL14_ENST00000506780.1_Missense_Mutation_p.S261I			Q9HCE5	MET14_HUMAN	methyltransferase like 14	299					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.S299I(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GTGAAGCGTAGCACAGACGGG	0.373																																							uc003icf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(895-897)AGC>ATC		methyltransferase like 14							168.0	164.0	166.0					4																	119626806		2203	4300	6503	SO:0001583	missense	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119626806G>T	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.896G>T	4.37:g.119626806G>T	ENSP00000373474:p.Ser299Ile					METTL14_uc003icg.2_Missense_Mutation_p.S261I	p.S299I	NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN			10	1012	+			299					A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	c.896G>T	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060993	0.93846	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	T;T	0.45668	0.89;0.89	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.74596	0.3737	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.80209	-0.1477	10	0.87932	D	0	-9.0027	20.0938	0.97831	0.0:0.0:1.0:0.0	.	261;299	D6RBL4;Q9HCE5	.;MTL14_HUMAN	I	299;261	ENSP00000373474:S299I;ENSP00000424111:S261I	ENSP00000373474:S299I	S	+	2	0	METTL14	119846254	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.229000	0.95273	2.757000	0.94681	0.585000	0.79938	AGC		0.373	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		21	95	1	0	2.21704e-12	0.00278	2.96924e-12	21	95				
TUBB7P	56604	broad.mit.edu	37	4	190903839	190903839	+	IGR	SNP	C	C	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr4:190903839C>A								FRG1 (19480 upstream) : RNA5SP174 (32453 downstream)														p.E381*(1)									GTAAACTGCTCTGAGACCCGC	0.547																																							uc011clg.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1141-1143)GAG>TAG		tubulin, beta polypeptide 4, member Q							115.0	142.0	133.0					4																	190903839		2165	4300	6465	SO:0001628	intergenic_variant	56604				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr4:190903839C>A																													4.37:g.190903839C>A							p.E381*	NM_020040	NP_064424	Q99867	TBB4Q_HUMAN		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)	4	1144	-		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	382						Nonsense_Mutation	SNP		37	c.1141G>T																																																																																				0	0.547									6	171	1	0	4.096e-09	0.001168	5.20678e-09	6	171				
FSTL4	23105	broad.mit.edu	37	5	132736615	132736615	+	Missense_Mutation	SNP	C	C	T	rs368837848		TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr5:132736615C>T	ENST00000265342.7	-	4	473	c.224G>A	c.(223-225)cGg>cAg	p.R75Q		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	75						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R75Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGCACGCACCGGCTCCCTCG	0.612																																							uc003kyn.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(223-225)CGG>CAG		follistatin-like 4 precursor		C	GLN/ARG	4,4402	6.2+/-15.9	0,4,2199	35.0	37.0	36.0		224	2.4	1.0	5		36	1,8599		0,1,4299	no	missense	FSTL4	NM_015082.1	43	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	benign	75/843	132736615	5,13001	2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132736615C>T	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.224G>A	5.37:g.132736615C>T	ENSP00000265342:p.Arg75Gln						p.R75Q	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	442	-		all_cancers(142;0.244)	75					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.224G>A	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323125	0.41096	9.08E-4	1.16E-4	ENSG00000053108	ENST00000265342;ENST00000360575;ENST00000510685	T;T	0.74842	-0.88;-0.88	5.57	2.42	0.29668	.	0.368239	0.27185	N	0.020530	T	0.57770	0.2076	L	0.27053	0.805	0.26963	N	0.965778	B	0.19935	0.04	B	0.09377	0.004	T	0.46803	-0.9165	10	0.31617	T	0.26	-18.8387	9.8361	0.40971	0.0:0.7093:0.0:0.2907	.	75	Q6MZW2	FSTL4_HUMAN	Q	75;75;77	ENSP00000265342:R75Q;ENSP00000427662:R77Q	ENSP00000265342:R75Q	R	-	2	0	FSTL4	132764514	0.204000	0.23447	0.969000	0.41365	0.911000	0.54048	0.866000	0.27954	0.729000	0.32403	-0.140000	0.14226	CGG		0.612	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		16	45	0	0	0	0.004007	0	16	45				
NRN1	51299	broad.mit.edu	37	6	6006965	6006965	+	Silent	SNP	G	G	A	rs144443923		TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr6:6006965G>A	ENST00000244766.2	-	1	235	c.18C>T	c.(16-18)aaC>aaT	p.N6N		NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	6					nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)		p.N6N(1)		endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		TATATCTGCCGTTCAACTTAA	0.542																																							uc003mwu.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(16-18)AAC>AAT		neuritin precursor							98.0	95.0	96.0					6																	6006965		2203	4300	6503	SO:0001819	synonymous_variant	51299					anchored to membrane|plasma membrane		g.chr6:6006965G>A	AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.18C>T	6.37:g.6006965G>A						NRN1_uc003mwt.2_5'Flank	p.N6N	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.00415)	1	669	-	Ovarian(93;0.0816)	all_hematologic(90;0.151)	6					B2RA93|Q7Z4Y1	Silent	SNP	ENST00000244766.2	37	c.18C>T	CCDS4495.1																																																																																				0.542	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1			34	119	0	0	0	0.003755	0	34	119				
NUP43	348995	broad.mit.edu	37	6	150057671	150057671	+	Missense_Mutation	SNP	C	C	A	rs372876390		TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr6:150057671C>A	ENST00000340413.2	-	6	802	c.726G>T	c.(724-726)ttG>ttT	p.L242F	NUP43_ENST00000367404.4_Intron|NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000460354.2_Missense_Mutation_p.L242F	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	242					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.L242F(1)		breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CCCAAATACTCAACATTCCAT	0.443																																							uc003qmz.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(724-726)TTG>TTT		nucleoporin 43kDa							165.0	130.0	142.0					6																	150057671		2203	4300	6503	SO:0001583	missense	348995				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr6:150057671C>A	AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.726G>T	6.37:g.150057671C>A	ENSP00000342262:p.Leu242Phe					NUP43_uc003qmx.3_RNA|NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Intron	p.L242F	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)	6	783	-		Ovarian(120;0.0164)	242			WD 5.		B4E2F0|Q9H8S0	Missense_Mutation	SNP	ENST00000340413.2	37	c.726G>T	CCDS5218.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766510	0.49574	.	.	ENSG00000120253	ENST00000340413;ENST00000460354	T;T	0.62498	0.02;0.02	5.71	4.85	0.62838	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.060850	0.64402	D	0.000003	T	0.45316	0.1336	L	0.48642	1.525	0.80722	D	1	B	0.20459	0.045	B	0.28709	0.093	T	0.51679	-0.8675	10	0.62326	D	0.03	-10.627	14.6289	0.68643	0.0:0.9289:0.0:0.0711	.	242	Q8NFH3	NUP43_HUMAN	F	242	ENSP00000342262:L242F;ENSP00000432401:L242F	ENSP00000342262:L242F	L	-	3	2	NUP43	150099364	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.535000	0.36061	1.413000	0.46997	0.603000	0.83216	TTG		0.443	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1	NM_198887		20	61	1	0	1.2644e-06	0.010504	1.5546e-06	20	61				
CHST12	55501	broad.mit.edu	37	7	2472309	2472309	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr7:2472309T>G	ENST00000258711.6	+	2	170	c.35T>G	c.(34-36)gTg>gGg	p.V12G		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	12					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)	p.V12G(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CTGTGGCTGGTGCTGGGGTCG	0.662																																							uc003smc.2		NA																	2	Substitution - Missense(2)		lung(2)	kidney(1)	1						c.(34-36)GTG>GGG		carbohydrate sulfotransferase 12							43.0	37.0	39.0					7																	2472309		2201	4299	6500	SO:0001583	missense	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2472309T>G	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.35T>G	7.37:g.2472309T>G	ENSP00000258711:p.Val12Gly					CHST12_uc003smd.2_Missense_Mutation_p.V12G	p.V12G	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	170	+		Ovarian(82;0.0253)	12			Helical; Signal-anchor for type II membrane protein; (Potential).		A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.35T>G	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.645638	0.29246	.	.	ENSG00000136213	ENST00000258711;ENST00000432336	T;T	0.68331	-0.32;0.47	5.05	-4.22	0.03800	.	0.655511	0.15128	N	0.279008	T	0.50837	0.1639	L	0.38838	1.175	0.38624	D	0.951207	B	0.28713	0.22	B	0.25140	0.058	T	0.36744	-0.9735	10	0.87932	D	0	-11.3322	11.8507	0.52410	0.0:0.3252:0.0:0.6748	.	12	Q9NRB3	CHSTC_HUMAN	G	12	ENSP00000258711:V12G;ENSP00000411207:V12G	ENSP00000258711:V12G	V	+	2	0	CHST12	2438835	0.311000	0.24536	0.103000	0.21229	0.631000	0.37964	0.672000	0.25187	-0.639000	0.05502	-0.366000	0.07423	GTG		0.662	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		6	47	0	0	0	0.008291	0	6	47				
CLVS1	157807	broad.mit.edu	37	8	62371045	62371045	+	Silent	SNP	C	C	T	rs372058481		TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr8:62371045C>T	ENST00000519846.1	+	6	1393	c.921C>T	c.(919-921)caC>caT	p.H307H	CLVS1_ENST00000325897.4_Silent_p.H307H|CLVS1_ENST00000518592.1_Silent_p.H28H			Q8IUQ0	CLVS1_HUMAN	clavesin 1	307					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.H307H(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATGCAATGCACGTGAAGCATA	0.512																																							uc003xuh.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(1)	5						c.(919-921)CAC>CAT		retinaldehyde binding protein 1-like 1		C		1,4405	2.1+/-5.4	0,1,2202	80.0	67.0	72.0		921	-10.1	0.7	8		72	0,8600		0,0,4300	no	coding-synonymous	CLVS1	NM_173519.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		307/355	62371045	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62371045C>T	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.921C>T	8.37:g.62371045C>T						CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Intron	p.H307H	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN			5	1245	+			307					B2R7M5|C8UZT3|Q8NB32	Silent	SNP	ENST00000519846.1	37	c.921C>T	CCDS6176.1																																																																																				0.512	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		18	61	0	0	0	0.007413	0	18	61				
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	C	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr9:164038C>G	ENST00000356521.4	-	5	519		c.e5-1		CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000377447.3_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding (GO:0005524)	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284																																							uc003zga.3		NA																	2	Unknown(2)		lung(2)	ovary(1)	1						c.e5-1		COBW domain containing 1 isoform 1							44.0	70.0	61.0					9																	164038		1423	2635	4058	SO:0001630	splice_region_variant	55871						ATP binding|protein binding	g.chr9:164038C>G	AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.431-1G>C	9.37:g.164038C>G						CBWD1_uc010mgs.2_Splice_Site|CBWD1_uc003zgb.3_Splice_Site_p.G108_splice|CBWD1_uc003zgc.3_Splice_Site_p.G144_splice|CBWD1_uc011llr.1_Splice_Site_p.G108_splice	p.G144_splice	NM_018491	NP_060961	Q9BRT8	CBWD1_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	5	537	-	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)						A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Splice_Site	SNP	ENST00000356521.4	37	c.431_splice	CCDS6438.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304448	0.60305	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000314367;ENST00000377447;ENST00000431099;ENST00000377347	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6706	0.77270	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CBWD1	154038	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.833000	0.75334	2.049000	0.60858	0.549000	0.68633	.		0.284	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051463.1	NM_018491	Intron	5	202	0	0	0	0.001168	0	5	202				
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr9:21971111G>A	ENST00000304494.5	-	2	517	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97V|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		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.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(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)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																													uc003zpk.2	H83Y(CALU3_LUNG)|H83Y(JHH2_LIVER)|H83Y(HS944T_SKIN)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17																	1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1112)|p.H83Y(28)|p.?(13)|p.H83fs*2(2)|p.H83P(2)|p.H83N(1)|p.V82fs*62(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.A138V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.H83R(1)|p.H83Q(1)	haematopoietic_and_lymphoid_tissue(284)|skin(175)|central_nervous_system(171)|lung(154)|urinary_tract(93)|bone(74)|oesophagus(59)|soft_tissue(58)|upper_aerodigestive_tract(56)|pleura(51)|ovary(36)|pancreas(34)|breast(33)|kidney(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|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	CM053801|CM056557	CDKN2A	M	rs121913385	c.(247-249)CAC>TAC		cyclin-dependent kinase inhibitor 2A isoform 1							12.0	15.0	14.0					9																	21971111		2176	4259	6435	SO:0001583	missense	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.chr9:21971111G>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.247C>T	9.37:g.21971111G>A	ENSP00000307101:p.His83Tyr	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.A138V	p.H83Y	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	459	-		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)	83		H -> N (in a lung tumor).|H -> Y (in a pancreas and a head and neck tumor).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.247C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762523|4.762523	0.89932|0.89932	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71222	-1.37;-1.31|-0.55;-0.55	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77579|0.77579	0.4151|0.4151	L|L	0.27053|0.27053	0.805|0.805	0.46521|0.46521	D|D	0.999085|0.999085	P|D	0.47191|0.76494	0.891|0.999	B|D	0.44044|0.75484	0.439|0.986	T|T	0.79024|0.79024	-0.1972|-0.1972	10|9	0.62326|0.66056	D|D	0.03|0.02	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	V|Y	138;97|83	ENSP00000355153:A138V;ENSP00000432664:A97V|ENSP00000307101:H83Y;ENSP00000394932:H83Y	ENSP00000355153:A138V|ENSP00000307101:H83Y	A|H	-|-	2|1	0|0	CDKN2A|CDKN2A	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		6	8	0	0	0	0.006214	0	6	8				
FBXO10	26267	broad.mit.edu	37	9	37541372	37541372	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr9:37541372C>G	ENST00000432825.2	-	2	442	c.394G>C	c.(394-396)Gac>Cac	p.D132H	RP11-613M10.8_ENST00000544475.1_5'UTR|RP11-613M10.8_ENST00000537239.2_3'UTR|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	132					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.D132H(1)		breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACAATTCGGTCATACAGGCTG	0.567																																							uc004aab.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)	5						c.(394-396)GAC>CAC		F-box protein 10							143.0	145.0	144.0					9																	37541372		2063	4203	6266	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37541372C>G	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.394G>C	9.37:g.37541372C>G	ENSP00000403802:p.Asp132His					FBXO10_uc004aac.2_Missense_Mutation_p.D148H|FBXO10_uc004aad.2_Intron	p.D132H	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	2	443	-			132					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.394G>C	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382582	0.82792	.	.	ENSG00000147912	ENST00000432825	T	0.56611	0.45	5.85	5.85	0.93711	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	T	0.64616	0.2614	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.66122	-0.6002	10	0.87932	D	0	-54.0148	18.9291	0.92558	0.0:1.0:0.0:0.0	.	132	Q9UK96	FBX10_HUMAN	H	132	ENSP00000403802:D132H	ENSP00000276960:D132H	D	-	1	0	FBXO10	37531372	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.658000	0.61497	2.773000	0.95371	0.650000	0.86243	GAC		0.567	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			34	109	0	0	0	0.012213	0	34	109				
SPATA31A1	647060	broad.mit.edu	37	9	39361018	39361018	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr9:39361018G>A	ENST00000377647.3	+	4	3285	c.3256G>A	c.(3256-3258)Gag>Aag	p.E1086K		NM_001085452.1	NP_001078921.1	Q5TZJ5	S31A1_HUMAN	SPATA31 subfamily A, member 1	1086					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.E1086K(1)									ACTGGTGCACGAGGAGCCCAG	0.542																																							uc004abm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3256-3258)GAG>AAG		hypothetical protein LOC642265							45.0	43.0	44.0					9																	39361018		1750	3961	5711	SO:0001583	missense	642265					integral to membrane		g.chr9:39361018G>A		CCDS43808.1	9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000204849	ENSG00000204849			23394	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 36"", ""family with sequence similarity 75, member A1"""	C9orf36, FAM75A1		20850414	Standard	XM_006716851		Approved	DKFZP434B204, C9orf36A, OTTHUMG00000013156		Q5TZJ5	OTTHUMG00000013156	ENST00000377647.3:c.3256G>A	9.37:g.39361018G>A	ENSP00000366875:p.Glu1086Lys						p.E1086K	NM_001040065	NP_001035154	Q5RGS2	F75A2_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	4	3285	+			1086						Missense_Mutation	SNP	ENST00000377647.3	37	c.3256G>A	CCDS43808.1	.	.	.	.	.	.	.	.	.	.	G	1.482	-0.556897	0.03967	.	.	ENSG00000204849	ENST00000377647	T	0.03889	3.77	1.94	-0.0526	0.13821	.	1.104000	0.07015	N	0.825774	T	0.01387	0.0045	N	0.00538	-1.39	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47129	-0.9141	10	0.18710	T	0.47	.	4.1921	0.10426	0.2664:0.4708:0.2629:0.0	.	1086	Q5TZJ5	F75A1_HUMAN	K	1086	ENSP00000366875:E1086K	ENSP00000366875:E1086K	E	+	1	0	FAM75A1	39351018	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.059000	0.11731	-0.006000	0.14370	-1.490000	0.00973	GAG		0.542	SPATA31A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036910.1	NM_001085452		102	447	0	0	0	0.01441	0	102	447				
ZSWIM8	23053	broad.mit.edu	37	10	75550806	75550807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr10:75550806_75550807insT	ENST00000605216.1	+	8	1232_1233	c.1015_1016insT	c.(1015-1017)ctgfs	p.L339fs	ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.L339fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.L339fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.L339fs|ZSWIM8_ENST00000604729.1_Frame_Shift_Ins_p.L339fs	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	339							zinc ion binding (GO:0008270)										GCTGCGCCCTCTGAGGGGCCGT	0.569																																							uc009xrl.2		NA																	0				breast(1)	1						c.(1015-1017)CTGfs		hypothetical protein LOC23053																																				SO:0001589	frameshift_variant	23053						zinc ion binding	g.chr10:75550806_75550807insT	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.1016dupT	10.37:g.75550807_75550807dupT	ENSP00000474748:p.Leu339fs					KIAA0913_uc001jve.2_Frame_Shift_Ins_p.L339fs|KIAA0913_uc001jvf.2_Frame_Shift_Ins_p.L339fs|KIAA0913_uc001jvh.2_5'Flank|KIAA0913_uc001jvi.2_5'Flank|KIAA0913_uc010qkr.1_5'Flank|KIAA0913_uc001jvj.2_5'Flank	p.L339fs	NM_015037	NP_055852	A7E2V4	K0913_HUMAN			8	1047_1048	+	Prostate(51;0.0112)		339					B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Ins	INS	ENST00000605216.1	37	c.1015_1016insT																																																																																					0.569	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		35	85	NA	NA	NA	NA	NA	35	85	---	---	---	---
SLC7A6OS	84138	broad.mit.edu	37	16	68330539	68330539	+	IGR	DEL	T	T	-			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr16:68330539delT	ENST00000263997.6	-	0	4189				SLC7A6_ENST00000566454.1_Frame_Shift_Del_p.F428fs|SLC7A6_ENST00000219343.6_Frame_Shift_Del_p.F428fs	NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand						hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		GCTGAGCGTGTTTTTCCCCAT	0.522																																							uc002evt.1		NA																	0				central_nervous_system(1)	1						c.(1279-1281)TTTfs		solute carrier family 7 (cationic amino acid							263.0	230.0	241.0					16																	68330539		2198	4300	6498	SO:0001628	intergenic_variant	9057				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity	g.chr16:68330539delT		CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558		16.37:g.68330539delT						SLC7A6_uc002evu.1_Frame_Shift_Del_p.F427fs|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA	p.F427fs	NM_001076785	NP_001070253	Q92536	YLAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)	11	1588	+		Ovarian(137;0.0563)	427			Helical; (Potential).		Q8TCZ3|Q9H8R8	Frame_Shift_Del	DEL	ENST00000263997.6	37	c.1279delT	CCDS10865.1																																																																																				0.522	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268894.3	NM_032178		8	382	NA	NA	NA	NA	NA	8	382	---	---	---	---
JAG1	182	broad.mit.edu	37	20	10637059	10637060	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr20:10637059_10637060insGA	ENST00000254958.5	-	5	1256_1257	c.741_742insTC	c.(739-744)ctcccafs	p.P248fs	JAG1_ENST00000423891.2_Frame_Shift_Ins_p.P89fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	248	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAGTCACCTGGGAGTTTGCAAG	0.441									Alagille Syndrome																														uc002wnw.2		NA																	0				lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(739-744)CTCCCAfs		jagged 1 precursor																																				SO:0001589	frameshift_variant	182	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10637059_10637060insGA	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.740_741dupTC	20.37:g.10637060_10637061dupGA	ENSP00000254958:p.Pro248fs						p.L247fs	NM_000214	NP_000205	P78504	JAG1_HUMAN			5	1257_1258	-			247_248			Extracellular (Potential).|EGF-like 1.		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Frame_Shift_Ins	INS	ENST00000254958.5	37	c.741_742insTC	CCDS13112.1																																																																																				0.441	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		22	71	NA	NA	NA	NA	NA	22	71	---	---	---	---
