#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
CYP4B1	1580	broad.mit.edu	37	1	47278284	47278284	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr1:47278284C>T	ENST00000271153.4	+	4	520	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	CYP4B1_ENST00000371919.4_Missense_Mutation_p.R147C|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R162C|CYP4B1_ENST00000452782.2_5'UTR			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	162					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TGAGTCTACACGTATCATGCT	0.567																																						uc001cqn.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(484-486)Cgt>Tgt		Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.							158.0	133.0	141.0					1																	47278284		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47278284C>T	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.484C>T	1.37:g.47278284C>T	ENSP00000271153:p.Arg162Cys					CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Missense_Mutation_p.R162C|CYP4B1_uc009vym.3_Missense_Mutation_p.R147C|CYP4B1_uc010omk.2_5'UTR|CYP4B1_uc010oml.1_5'UTR	p.R162C	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN			3	568	+	Acute lymphoblastic leukemia(166;0.155)		162					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.484C>T	CCDS542.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791897	0.31685	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919	T;T;T	0.70631	-0.5;-0.5;-0.5	5.91	-1.58	0.08479	.	1.453990	0.04051	N	0.304763	T	0.70736	0.3258	M	0.66939	2.045	0.09310	N	0.999998	B;B;B	0.22683	0.073;0.03;0.037	B;B;B	0.24848	0.043;0.033;0.056	T	0.62431	-0.6856	10	0.54805	T	0.06	.	12.4775	0.55823	0.6683:0.2441:0.0876:0.0	.	147;162;162	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	C	162;162;147	ENSP00000360991:R162C;ENSP00000271153:R162C;ENSP00000360987:R147C	ENSP00000271153:R162C	R	+	1	0	CYP4B1	47050871	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.032000	0.12266	0.059000	0.16252	-0.293000	0.09583	CGT		0.567	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779	
HRNR	388697	broad.mit.edu	37	1	152187706	152187706	+	Silent	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr1:152187706G>A	ENST00000368801.2	-	3	6474	c.6399C>T	c.(6397-6399)taC>taT	p.Y2133Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2133					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.Y2133*(1)|p.Y2133Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGTTGTCCGTAGCCAGAGG	0.567																																						uc001ezt.1																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)	p.Y2133*(2)|p.Y2133Y(2)	lung(2)	autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6397-6399)taC>taT		Homo sapiens hornerin (HRNR), mRNA.							22.0	23.0	22.0					1																	152187706		1603	3263	4866	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187706G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6399C>T	1.37:g.152187706G>A							p.Y2133Y	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	6475	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2133					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6399C>T	CCDS30859.1																																																																																				0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
S100A8	6279	broad.mit.edu	37	1	153362715	153362715	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr1:153362715T>C	ENST00000368733.3	-	3	315	c.146A>G	c.(145-147)aAg>aGg	p.K49R	S100A8_ENST00000368732.1_Missense_Mutation_p.K49R|S100A8_ENST00000477801.1_5'UTR	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	49	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|acute inflammatory response (GO:0002526)|autophagy (GO:0006914)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|wound healing (GO:0042060)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTGCACCCTTTTTCTGTCA	0.507																																						uc001fbs.3																			0				breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(145-147)aAg>aGg		Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.							115.0	115.0	115.0					1																	153362715		2203	4300	6503	SO:0001583	missense	6279				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	g.chr1:153362715T>C	BC005928	CCDS1038.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000143546	ENSG00000143546		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10498	protein-coding gene	gene with protein product		123885	"""S100 calcium-binding protein A8 (calgranulin A)"", ""S100 calcium binding protein A8 (calgranulin A)"""	CAGA, CFAG			Standard	NM_002964		Approved	P8, MRP8, 60B8AG, CGLA	uc001fbs.3	P05109	OTTHUMG00000013124	ENST00000368733.3:c.146A>G	1.37:g.153362715T>C	ENSP00000357722:p.Lys49Arg						p.K49R	NM_002964	NP_002955	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	316	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		49			EF-hand 2.		A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Missense_Mutation	SNP	ENST00000368733.3	37	c.146A>G	CCDS1038.1	.	.	.	.	.	.	.	.	.	.	.	11.89	1.773606	0.31411	.	.	ENSG00000143546	ENST00000368733;ENST00000368732	T;T	0.07021	3.23;3.23	4.37	2.01	0.26516	EF-hand-like domain (1);	0.146302	0.64402	N	0.000011	T	0.01523	0.0049	.	.	.	0.09310	N	1	B	0.18741	0.03	B	0.17098	0.017	T	0.45877	-0.9231	9	0.36615	T	0.2	.	3.8238	0.08846	0.1858:0.1009:0.0:0.7134	.	49	P05109	S10A8_HUMAN	R	49	ENSP00000357722:K49R;ENSP00000357721:K49R	ENSP00000357721:K49R	K	-	2	0	S100A8	151629339	0.137000	0.22531	0.024000	0.17045	0.196000	0.23810	1.062000	0.30555	0.437000	0.26423	0.524000	0.50904	AAG		0.507	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036791.1	NM_002964	
KCNK18	338567	broad.mit.edu	37	10	118969028	118969028	+	Missense_Mutation	SNP	G	G	A	rs141958329		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr10:118969028G>A	ENST00000334549.1	+	3	373	c.373G>A	c.(373-375)Gtc>Atc	p.V125I		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	125					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CATCTACCCCGTCACCAGGCT	0.507																																						uc010qsr.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41						c.(373-375)Gtc>Atc		Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.		G	ILE/VAL	0,4406		0,0,2203	198.0	197.0	197.0		373	1.2	0.2	10	dbSNP_134	197	3,8597	2.2+/-6.3	0,3,4297	yes	missense	KCNK18	NM_181840.1	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	125/385	118969028	3,13003	2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118969028G>A	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.373G>A	10.37:g.118969028G>A	ENSP00000334650:p.Val125Ile						p.V125I	NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	2	373	+		Colorectal(252;0.19)	125					Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.373G>A	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220205	0.39201	0.0	3.49E-4	ENSG00000186795	ENST00000334549	T	0.25085	1.82	4.65	1.21	0.21127	Ion transport 2 (1);	0.292074	0.31673	N	0.007248	T	0.17662	0.0424	L	0.45698	1.435	0.18873	N	0.999983	P	0.40431	0.717	B	0.33454	0.164	T	0.12502	-1.0545	10	0.36615	T	0.2	.	9.8852	0.41257	0.2871:0.0:0.7129:0.0	.	125	Q7Z418	KCNKI_HUMAN	I	125	ENSP00000334650:V125I	ENSP00000334650:V125I	V	+	1	0	KCNK18	118959018	0.980000	0.34600	0.166000	0.22797	0.896000	0.52359	1.573000	0.36472	0.496000	0.27904	0.655000	0.94253	GTC		0.507	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840	
ZNF215	7762	broad.mit.edu	37	11	6964441	6964441	+	Missense_Mutation	SNP	G	G	A	rs192913397	byFrequency	TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:6964441G>A	ENST00000278319.5	+	5	1199	c.611G>A	c.(610-612)cGt>cAt	p.R204H	ZNF215_ENST00000527171.1_Intron|ZNF215_ENST00000529903.1_Missense_Mutation_p.R204H|ZNF215_ENST00000414517.2_Missense_Mutation_p.R204H	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	204	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AATTCATTGCGTAAAGGTGGT	0.418													G|||	4	0.000798722	0.0	0.0	5008	,	,		20950	0.001		0.0	False		,,,				2504	0.0031					uc001mey.3																			0				NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32						c.(610-612)cGt>cAt		Homo sapiens zinc finger protein 215 (ZNF215), mRNA.							164.0	155.0	158.0					11																	6964441		2201	4296	6497	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6964441G>A	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.611G>A	11.37:g.6964441G>A	ENSP00000278319:p.Arg204His					ZNF215_uc010raw.2_Intron|ZNF215_uc010rax.2_Intron|ZNF215_uc001mez.1_Missense_Mutation_p.R204H	p.R204H	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	4	1199	+			204			KRAB.		Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.611G>A	CCDS7775.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.556	0.103245	0.08731	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	T;T;T	0.00808	5.67;5.67;5.67	4.38	-7.21	0.01490	Krueppel-associated box (3);	0.981570	0.08259	N	0.973337	T	0.00468	0.0015	N	0.00926	-1.1	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.52997	-0.8500	10	0.52906	T	0.07	1.927	13.9477	0.64096	0.8087:0.0:0.1913:0.0	.	204;204	Q96C84;Q9UL58	.;ZN215_HUMAN	H	204	ENSP00000278319:R204H;ENSP00000393202:R204H;ENSP00000432306:R204H	ENSP00000278319:R204H	R	+	2	0	ZNF215	6921017	0.765000	0.28485	0.008000	0.14137	0.243000	0.25628	-0.274000	0.08537	-1.777000	0.01283	-0.345000	0.07892	CGT		0.418	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1		
OLFML1	283298	broad.mit.edu	37	11	7509544	7509544	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:7509544C>T	ENST00000329293.3	+	2	710	c.316C>T	c.(316-318)Cga>Tga	p.R106*	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Nonsense_Mutation_p.R106*|OLFML1_ENST00000528758.1_Intron	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	106						extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ACAATACCTTCGAGAGGCTGA	0.478																																						uc001mfi.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24						c.(316-318)Cga>Tga		Homo sapiens olfactomedin-like 1 (OLFML1), mRNA.							116.0	99.0	105.0					11																	7509544		2201	4296	6497	SO:0001587	stop_gained	283298					extracellular region		g.chr11:7509544C>T	AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.316C>T	11.37:g.7509544C>T	ENSP00000332511:p.Arg106*					BC040358_uc001mff.1_Intron|OLFML1_uc010raz.2_Intron|OLFML1_uc010rba.2_Nonsense_Mutation_p.R106*	p.R106*	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN		Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	1	823	+			106					B4DP03|Q569G4	Nonsense_Mutation	SNP	ENST00000329293.3	37	c.316C>T	CCDS7779.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930601	0.92389	.	.	ENSG00000183801	ENST00000530135;ENST00000329293	.	.	.	5.77	2.58	0.30949	.	0.237632	0.33057	N	0.005331	.	.	.	.	.	.	0.26477	N	0.975178	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4339	0.50058	0.5594:0.4406:0.0:0.0	.	.	.	.	X	106	.	ENSP00000332511:R106X	R	+	1	2	OLFML1	7466120	0.204000	0.23447	0.067000	0.19924	0.671000	0.39405	1.701000	0.37825	0.757000	0.33036	0.655000	0.94253	CGA		0.478	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474	
OR4P4	81300	broad.mit.edu	37	11	55406751	55406751	+	Silent	SNP	G	G	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:55406751G>T	ENST00000314612.2	+	1	918	c.918G>T	c.(916-918)ctG>ctT	p.L306L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L306L(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AAATACTCCTGAAAAGAAATC	0.398																																						uc010rij.2																			1	Substitution - coding silent(1)	p.L306L(2)	lung(1)	autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(916-918)ctG>ctT		Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.							117.0	116.0	116.0					11																	55406751		2177	3987	6164	SO:0001819	synonymous_variant	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406751G>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.918G>T	11.37:g.55406751G>T							p.L306L	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			0	918	+			306						Silent	SNP	ENST00000314612.2	37	c.918G>T	CCDS31504.1																																																																																				0.398	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124	
LRRC55	219527	broad.mit.edu	37	11	56950136	56950136	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:56950136C>T	ENST00000497933.1	+	1	916	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	227	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GCTGCGAAACCGGATCCAGCG	0.617																																						uc001njl.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(769-771)Cgg>Tgg		Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.							74.0	70.0	71.0					11																	56950136		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56950136C>T		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.769C>T	11.37:g.56950136C>T	ENSP00000419542:p.Arg257Trp						p.R257W	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			0	916	+			227			LRRCT.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.769C>T	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706638	0.68615	.	.	ENSG00000183908	ENST00000497933	T	0.02446	4.29	5.53	3.46	0.39613	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.53938	D	0.000050	T	0.07052	0.0179	L	0.39245	1.2	0.35280	D	0.781279	D	0.55800	0.973	P	0.57425	0.82	T	0.27905	-1.0060	10	0.72032	D	0.01	.	12.0399	0.53446	0.3599:0.6401:0.0:0.0	.	227	Q6ZSA7	LRC55_HUMAN	W	257	ENSP00000419542:R257W	ENSP00000419542:R257W	R	+	1	2	LRRC55	56706712	0.132000	0.22450	1.000000	0.80357	0.973000	0.67179	0.093000	0.15086	1.301000	0.44836	0.561000	0.74099	CGG		0.617	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210	
LRP5	4041	broad.mit.edu	37	11	68206026	68206026	+	Silent	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:68206026G>A	ENST00000294304.7	+	20	4330	c.4224G>A	c.(4222-4224)caG>caA	p.Q1408Q		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1408					adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTGTGTGCCAGCGCGTGGTGT	0.652																																						uc001ont.3																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4222-4224)caG>caA		Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.							94.0	82.0	86.0					11																	68206026		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68206026G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4224G>A	11.37:g.68206026G>A						LRP5_uc009ysg.3_Silent_p.Q818Q	p.Q1408Q	NM_002335	NP_002326	O75197	LRP5_HUMAN			19	4299	+			1408					Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.4224G>A	CCDS8181.1																																																																																				0.652	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335	
KDELC2	143888	broad.mit.edu	37	11	108350192	108350192	+	Missense_Mutation	SNP	C	C	T	rs531322305		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:108350192C>T	ENST00000323468.5	-	6	1194	c.1129G>A	c.(1129-1131)Gtg>Atg	p.V377M	KDELC2_ENST00000375648.1_Missense_Mutation_p.V321M|KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000434945.2_Missense_Mutation_p.V321M	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	377						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TAAGCAGCCACGGTCCCATCC	0.408																																						uc001pkj.2																			0		p.T376T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(1129-1131)Gtg>Atg		Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA.							69.0	67.0	68.0					11																	108350192		1944	4142	6086	SO:0001583	missense	143888					endoplasmic reticulum lumen		g.chr11:108350192C>T	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.1129G>A	11.37:g.108350192C>T	ENSP00000315386:p.Val377Met					KDELC2_uc001pki.2_Missense_Mutation_p.V321M	p.V377M	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	5	1195	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	377					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	c.1129G>A	CCDS41711.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665656	0.88251	.	.	ENSG00000178202	ENST00000323468;ENST00000434945;ENST00000375648	T;T;T	0.24723	1.84;1.84;1.84	5.05	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.56426	0.1984	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64453	-0.6404	10	0.87932	D	0	-18.191	14.5319	0.67931	0.0:0.926:0.0:0.074	.	377;321	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	M	377;321;321	ENSP00000315386:V377M;ENSP00000413429:V321M;ENSP00000364799:V321M	ENSP00000315386:V377M	V	-	1	0	KDELC2	107855402	1.000000	0.71417	0.968000	0.41197	0.977000	0.68977	5.927000	0.70080	2.793000	0.96121	0.655000	0.94253	GTG		0.408	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705	
USP2	9099	broad.mit.edu	37	11	119229846	119229846	+	Splice_Site	DEL	T	T	-			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:119229846delT	ENST00000260187.2	-	6	1356		c.e6-2		USP2_ENST00000525735.1_Splice_Site|USP2_ENST00000455332.2_Splice_Site	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2						cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TCCTGCTGACTGAACCCAAAG	0.527																																						uc001pwm.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.e6-1		Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.							86.0	75.0	79.0					11																	119229846		2199	4295	6494	SO:0001630	splice_region_variant	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119229846delT	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1062-2A>-	11.37:g.119229846delT						USP2_uc001pwl.4_Splice_Site_p.N145_splice|USP2_uc001pwn.4_Splice_Site_p.N111_splice	p.N354_splice	NM_004205	NP_004196	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	6	1357	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	354					B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Splice_Site	DEL	ENST00000260187.2	37	c.1062_splice	CCDS8422.1																																																																																				0.527	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997	Intron
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	IGR	SNP	G	G	C	rs199863259		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr12:13028751G>C								DDX47 (45836 upstream) : GPRC5A (14964 downstream)																							GGTGTTTGACGGCATCCCACC	0.612																																						uc010sho.2																			0											c.(319-321)Ggc>Cgc		Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																																				SO:0001628	intergenic_variant	387841							g.chr12:13028751G>C																													12.37:g.13028751G>C							p.G107R							0	341	+									Missense_Mutation	SNP		37	c.319G>C																																																																																				0	0.612								
DIAPH3	81624	broad.mit.edu	37	13	60545255	60545256	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr13:60545255_60545256GA>AT	ENST00000400324.4	-	16	1909_1910	c.1689_1690TC>AT	c.(1687-1692)ccTCcc>ccATcc	p.P564S	DIAPH3_ENST00000400320.1_Missense_Mutation_p.P518S|DIAPH3_ENST00000400319.1_Missense_Mutation_p.P494S|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P564S|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P564S|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P553S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	564	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCTTTAGAGGGAGGCAAAGGAA	0.495																																						uc001vht.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1687-1692)cctccc>ccATcc		Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.																																				SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60545255_60545256GA>AT	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1689_1690delinsAT	13.37:g.60545255_60545256delinsAT	ENSP00000383178:p.Pro564Ser					DIAPH3_uc001vhu.3_Missense_Mutation_p.P301S|DIAPH3_uc001vhv.3_Missense_Mutation_p.P142S	p.P564S	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	15	1908_1909	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	564			FH1.|Pro-rich.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	DNP	ENST00000400324.4	37	c.1689_1690TC>AT	CCDS41898.1																																																																																				0.495	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517	
SLITRK1	114798	broad.mit.edu	37	13	84455310	84455310	+	Silent	SNP	C	C	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr13:84455310C>A	ENST00000377084.2	-	1	1218	c.333G>T	c.(331-333)ctG>ctT	p.L111L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	111					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				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)		TGTTGATGTGCAGCCTTTTCA	0.433																																						uc001vlk.3																			0				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						c.(331-333)ctG>ctT		Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.							67.0	71.0	70.0					13																	84455310		2203	4300	6503	SO:0001819	synonymous_variant	114798					integral to membrane		g.chr13:84455310C>A	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.333G>T	13.37:g.84455310C>A							p.L111L	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	0	1219	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	111					Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	c.333G>T	CCDS9464.1																																																																																				0.433	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910	
SLC39A9	55334	broad.mit.edu	37	14	69920026	69920026	+	Splice_Site	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr14:69920026G>A	ENST00000336643.5	+	4	1150	c.472G>A	c.(472-474)Gct>Act	p.A158T	SLC39A9_ENST00000031146.4_Splice_Site_p.A92T|SLC39A9_ENST00000556605.1_Splice_Site_p.A158T|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000557046.1_Intron	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	158					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		CCATGCTGCAGGTAGGGTTGG	0.463																																						uc001xle.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.e4+1		Homo sapiens solute carrier family 39 (zinc transporter), member 9 (SLC39A9), transcript variant 1, mRNA.							120.0	110.0	113.0					14																	69920026		2203	4300	6503	SO:0001630	splice_region_variant	55334				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr14:69920026G>A		CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"""Solute carriers"""	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.472+1G>A	14.37:g.69920026G>A						SLC39A9_uc021rvg.1_Splice_Site_p.A40_splice|SLC39A9_uc021rvh.1_Splice_Site_p.A40_splice|SLC39A9_uc001xlf.4_Splice_Site_p.A158_splice|SLC39A9_uc010aqx.3_Intron|SLC39A9_uc001xlg.4_Splice_Site	p.A158_splice	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN		all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)	4	1174	+			158					G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Missense_Mutation	SNP	ENST00000336643.5	37	c.472_splice	CCDS9795.1	.	.	.	.	.	.	.	.	.	.	G	36	5.804526	0.96967	.	.	ENSG00000029364	ENST00000556605;ENST00000336643	T;T	0.44083	0.93;0.93	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.59865	0.2225	L	0.58302	1.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52540	-0.8562	10	0.13108	T	0.6	-7.8011	18.8292	0.92130	0.0:0.0:1.0:0.0	.	158;158	G3V5J8;Q9NUM3	.;S39A9_HUMAN	T	158	ENSP00000452385:A158T;ENSP00000336887:A158T	ENSP00000031146:A158T	A	+	1	0	SLC39A9	68989779	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.869000	0.99810	2.433000	0.82419	0.655000	0.94253	GCT		0.463	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375	Missense_Mutation
TCF12	6938	broad.mit.edu	37	15	57524624	57524624	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr15:57524624delG	ENST00000267811.5	+	10	1125	c.821delG	c.(820-822)cgcfs	p.R274fs	TCF12_ENST00000543579.1_Frame_Shift_Del_p.R104fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.R274fs|TCF12_ENST00000560764.1_Intron|TCF12_ENST00000537840.1_Intron|TCF12_ENST00000333725.5_Frame_Shift_Del_p.R274fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.R270fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.R104fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.R274fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	274					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCACATGACCGCTTGGTAGGC	0.443			T	TEC	extraskeletal myxoid chondrosarcoma																																	uc002aec.3				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(820-822)cgcfs		Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.							168.0	152.0	157.0					15																	57524624		2192	4292	6484	SO:0001589	frameshift_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57524624delG	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.821delG	15.37:g.57524624delG	ENSP00000267811:p.Arg274fs					TCF12_uc010ugm.1_Frame_Shift_Del_p.R326fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.R270fs|TCF12_uc002aea.3_Frame_Shift_Del_p.R274fs|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Frame_Shift_Del_p.R274fs|TCF12_uc002aed.3_Frame_Shift_Del_p.R274fs|TCF12_uc010ugo.2_Intron|TCF12_uc002aee.3_Frame_Shift_Del_p.R104fs|TCF12_uc010bft.3_Frame_Shift_Del_p.R104fs	p.R274fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	9	1105	+		Colorectal(260;0.0907)	274					Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Del	DEL	ENST00000267811.5	37	c.821delG	CCDS10159.1																																																																																				0.443	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						uc002cdi.3																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						c.(523-525)Ggc>Agc		Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.																																						374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A						WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript	p.G175S							8	1943	+									Missense_Mutation	SNP	ENST00000557932.1	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163	
KRT13	3860	broad.mit.edu	37	17	39659673	39659673	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr17:39659673G>A	ENST00000246635.3	-	3	647	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000336861.3_Missense_Mutation_p.R201C|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000587544.1_Missense_Mutation_p.R201C	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	201	Coil 1B.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				ACGCTCTGGCGCAGGGCCAGC	0.483																																						uc002hwu.1																			0		p.R201H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(601-603)Cgc>Tgc		Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.							62.0	62.0	62.0					17																	39659673		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39659673G>A		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.601C>T	17.37:g.39659673G>A	ENSP00000246635:p.Arg201Cys					KRT13_uc002hwv.1_Missense_Mutation_p.R201C|KRT13_uc010wfr.2_Missense_Mutation_p.R94C|KRT13_uc010cxo.3_Missense_Mutation_p.R201C|KRT13_uc021txk.1_Missense_Mutation_p.R94C	p.R201C	NM_153490	NP_705694	P13646	K1C13_HUMAN			2	664	-		Breast(137;0.000286)	201			Coil 1B.|Rod.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.601C>T	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669876	0.88348	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.91792	-2.91;-2.91	4.4	4.4	0.53042	Filament (1);	0.000000	0.46145	D	0.000309	D	0.93986	0.8074	M	0.82132	2.575	0.80722	D	1	P;P;P;P	0.49559	0.925;0.896;0.873;0.896	P;P;B;P	0.49192	0.602;0.478;0.346;0.478	D	0.94975	0.8120	10	0.66056	D	0.02	.	17.5315	0.87816	0.0:0.0:1.0:0.0	.	189;201;201;201	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	C	201;201;189	ENSP00000246635:R201C;ENSP00000336604:R201C	ENSP00000157775:R189C	R	-	1	0	KRT13	36913199	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.441000	0.66569	2.444000	0.82710	0.561000	0.74099	CGC		0.483	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490	
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					uc010dln.3																			2	Substitution - Missense(2)	p.K507E(4)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu					POTEC_uc010xaj.2_Non-coding_Transcript	p.K507E	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			9	1973	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269	
CNDP2	55748	broad.mit.edu	37	18	72178127	72178127	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr18:72178127C>T	ENST00000324262.4	+	6	852	c.536C>T	c.(535-537)gCc>gTc	p.A179V	CNDP2_ENST00000324301.8_Missense_Mutation_p.A95V|CNDP2_ENST00000579847.1_Missense_Mutation_p.A179V	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	179					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CTGATTTTTGCCCGGAAAGAC	0.527																																						uc002llm.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24						c.(535-537)gCc>gTc		Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.							155.0	140.0	145.0					18																	72178127		2203	4300	6503	SO:0001583	missense	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72178127C>T	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.536C>T	18.37:g.72178127C>T	ENSP00000325548:p.Ala179Val					CNDP2_uc002lln.2_Missense_Mutation_p.A95V	p.A179V	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	5	795	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	179					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	37	c.536C>T	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	C	8.396	0.840836	0.16891	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.08370	3.1;3.1	6.06	5.18	0.71444	.	0.207467	0.51477	D	0.000086	T	0.14485	0.0350	M	0.66506	2.035	0.24542	N	0.994064	B;B;B	0.20550	0.046;0.018;0.019	B;B;B	0.27887	0.084;0.025;0.01	T	0.07328	-1.0778	10	0.42905	T	0.14	-17.8439	16.7339	0.85442	0.1305:0.8695:0.0:0.0	.	84;95;179	B4DPF1;Q96KP4-2;Q96KP4	.;.;CNDP2_HUMAN	V	179;95	ENSP00000325548:A179V;ENSP00000325756:A95V	ENSP00000325548:A179V	A	+	2	0	CNDP2	70329107	0.960000	0.32886	0.050000	0.19076	0.014000	0.08584	3.856000	0.55964	1.556000	0.49512	-0.181000	0.13052	GCC		0.527	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235	
ATG4D	84971	broad.mit.edu	37	19	10657548	10657548	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr19:10657548C>T	ENST00000309469.4	+	4	700	c.527C>T	c.(526-528)cCc>cTc	p.P176L	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	176					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGCCTGGGCCCCCCTGAGCTG	0.657																																						uc002mov.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19						c.(526-528)cCc>cTc		Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.							32.0	30.0	31.0					19																	10657548		2186	4276	6462	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10657548C>T	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.527C>T	19.37:g.10657548C>T	ENSP00000311318:p.Pro176Leu					ATG4D_uc010xlg.2_Missense_Mutation_p.P199L|ATG4D_uc010xlh.2_Missense_Mutation_p.P113L|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Intron|ATG4D_uc010dxj.3_Intron	p.P176L	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		3	647	+			176					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.527C>T	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456239	0.63401	.	.	ENSG00000130734	ENST00000309469	.	.	.	4.82	3.71	0.42584	.	1.032620	0.07623	N	0.927375	T	0.43875	0.1267	L	0.55481	1.735	0.24681	N	0.993366	B;B;B	0.28584	0.025;0.216;0.049	B;B;B	0.27887	0.038;0.084;0.038	T	0.30534	-0.9975	9	0.11794	T	0.64	-0.78	13.4432	0.61125	0.0:0.841:0.159:0.0	.	113;199;176	B4DGM8;B7ZAY9;Q86TL0	.;.;ATG4D_HUMAN	L	176	.	ENSP00000311318:P176L	P	+	2	0	ATG4D	10518548	0.001000	0.12720	0.064000	0.19789	0.900000	0.52787	0.860000	0.27871	2.376000	0.81061	0.561000	0.74099	CCC		0.657	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885	
NWD1	284434	broad.mit.edu	37	19	16883984	16883984	+	Missense_Mutation	SNP	G	G	A	rs139109286		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr19:16883984G>A	ENST00000552788.1	+	9	2458	c.2458G>A	c.(2458-2460)Gcc>Acc	p.A820T	NWD1_ENST00000549814.1_Missense_Mutation_p.A820T|NWD1_ENST00000523826.1_Missense_Mutation_p.A614T|NWD1_ENST00000339803.6_Missense_Mutation_p.A685T|NWD1_ENST00000379808.3_Missense_Mutation_p.A820T|NWD1_ENST00000524140.2_Missense_Mutation_p.A820T			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	820							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCATTTCTTCGCCACCTCACA	0.577													g|||	1	0.000199681	0.0008	0.0	5008	,	,		18054	0.0		0.0	False		,,,				2504	0.0					uc002neu.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2458-2460)Gcc>Acc		Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.			THR/ALA	1,4405		0,1,2202	80.0	77.0	78.0		2458	-8.1	0.0	19	dbSNP_134	78	0,8600		0,0,4300	no	missense	NWD1	NM_001007525.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	820/1433	16883984	1,13005	2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16883984G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2458G>A	19.37:g.16883984G>A	ENSP00000447224:p.Ala820Thr					NWD1_uc002net.4_Missense_Mutation_p.A685T|NWD1_uc002nev.4_Missense_Mutation_p.A614T|NWD1_uc021uqg.1_Missense_Mutation_p.A685T	p.A820T	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN			10	2880	+			820					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.2458G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	-	9.623	1.134342	0.21123	2.27E-4	0.0	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.58210	0.35;0.41;0.35;0.35;0.4;0.4	4.04	-8.08	0.01094	.	1.438130	0.04532	N	0.386505	T	0.33323	0.0859	L	0.59436	1.845	0.09310	N	1	P;P;P	0.48998	0.84;0.83;0.918	B;B;B	0.34652	0.129;0.187;0.17	T	0.42582	-0.9443	10	0.12766	T	0.61	-1.0217	4.3172	0.10998	0.3894:0.0:0.1777:0.4329	.	820;820;685	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	T	685;820;820;820;614;820;685	ENSP00000428579:A820T;ENSP00000447548:A820T;ENSP00000369136:A820T;ENSP00000428955:A614T;ENSP00000447224:A820T;ENSP00000340159:A685T	ENSP00000340159:A685T	A	+	1	0	NWD1	16744984	0.000000	0.05858	0.000000	0.03702	0.722000	0.41435	-0.270000	0.08584	-1.472000	0.01883	0.459000	0.35465	GCC		0.577	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525	
MEGF8	1954	broad.mit.edu	37	19	42879827	42879827	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr19:42879827G>A	ENST00000251268.6	+	42	7438	c.7438G>A	c.(7438-7440)Gtg>Atg	p.V2480M	MEGF8_ENST00000378073.4_Missense_Mutation_p.V74M|MEGF8_ENST00000334370.4_Missense_Mutation_p.V2413M	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2480					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCTCTTTGGCGTGCAGCCCAA	0.637																																						uc002otl.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(7237-7239)Gtg>Atg		Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.							41.0	28.0	33.0					19																	42879827		2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42879827G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7438G>A	19.37:g.42879827G>A	ENSP00000251268:p.Val2480Met					MEGF8_uc002otm.4_Missense_Mutation_p.V2021M|MEGF8_uc002otn.4_Missense_Mutation_p.V74M	p.V2413M	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			40	7872	+		Prostate(69;0.00682)	2480			Laminin EGF-like 4.		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.7237G>A		.	.	.	.	.	.	.	.	.	.	g	24.1	4.491230	0.84962	.	.	ENSG00000105429	ENST00000334370;ENST00000251268;ENST00000378073	T;T	0.27720	1.65;1.65	4.92	4.92	0.64577	.	0.077030	0.51477	D	0.000088	T	0.44329	0.1288	L	0.32530	0.975	0.58432	D	0.99999	D;D;D	0.76494	0.999;0.992;0.999	P;P;D	0.65323	0.836;0.579;0.934	T	0.43540	-0.9385	10	0.87932	D	0	-18.5562	17.2736	0.87109	0.0:0.0:1.0:0.0	.	74;2480;2413	F5GZG7;Q7Z7M0;Q7Z7M0-2	.;MEGF8_HUMAN;.	M	2413;2480;74	ENSP00000334219:V2413M;ENSP00000251268:V2480M	ENSP00000251268:V2480M	V	+	1	0	MEGF8	47571667	1.000000	0.71417	0.969000	0.41365	0.982000	0.71751	7.345000	0.79337	2.451000	0.82905	0.651000	0.88453	GTG		0.637	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
ZNF665	79788	broad.mit.edu	37	19	53668521	53668521	+	Missense_Mutation	SNP	C	C	T	rs375884834	byFrequency	TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr19:53668521C>T	ENST00000600412.1	-	2	1142	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	ZNF665_ENST00000396424.3_Missense_Mutation_p.V408I|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V408I(1)|p.V343I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AAAACCTTGACGCATTCATTA	0.398													C|||	2	0.000399361	0.0015	0.0	5008	,	,		23227	0.0		0.0	False		,,,				2504	0.0					uc010eqm.1																			2	Substitution - Missense(2)	p.V408I(1)|p.V343I(1)	lung(2)	breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(1222-1224)Gtc>Atc		Homo sapiens zinc finger protein 665 (ZNF665), mRNA.		C	ILE/VAL	0,4400		0,0,2200	98.0	104.0	102.0		1222	-2.7	0.0	19		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF665	NM_024733.3	29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	408/679	53668521	1,12999	2200	4300	6500	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668521C>T		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1027G>A	19.37:g.53668521C>T	ENSP00000469154:p.Val343Ile						p.V408I	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	3	1322	-			343					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.1222G>A		.	.	.	.	.	.	.	.	.	.	C	9.628	1.135612	0.21123	0.0	1.16E-4	ENSG00000197497	ENST00000396424	T	0.07567	3.18	2.03	-2.67	0.06059	.	.	.	.	.	T	0.03477	0.0100	N	0.14661	0.345	0.09310	N	1	P	0.42203	0.773	B	0.34452	0.183	T	0.32508	-0.9904	9	0.87932	D	0	.	2.9713	0.05924	0.2083:0.5105:0.0:0.2812	.	408	Q9H7R5-2	.	I	408	ENSP00000379702:V408I	ENSP00000379702:V408I	V	-	1	0	ZNF665	58360333	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.233000	0.09041	-0.705000	0.05035	-0.694000	0.03704	GTC		0.398	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733	
CYTIP	9595	broad.mit.edu	37	2	158300464	158300464	+	Silent	SNP	C	C	T	rs376714958		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr2:158300464C>T	ENST00000264192.3	-	1	190	c.69G>A	c.(67-69)gcG>gcA	p.A23A	CYTIP_ENST00000540637.1_Intron|CYTIP_ENST00000497432.1_Intron|AC019201.1_ENST00000401235.1_RNA	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	23					regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AAGAGCTATACGCTGGCCCAG	0.512																																						uc002tzj.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(67-69)gcG>gcA		Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.		C		0,4406		0,0,2203	169.0	154.0	159.0		69	-11.4	0.0	2		159	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CYTIP	NM_004288.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		23/360	158300464	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158300464C>T	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.69G>A	2.37:g.158300464C>T						CYTIP_uc010zcl.1_Intron	p.A23A	NM_004288	NP_004279	O60759	CYTIP_HUMAN			0	141	-			23					B4DWH9|Q15630|Q8NE32	Silent	SNP	ENST00000264192.3	37	c.69G>A	CCDS2204.1																																																																																				0.512	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288	
SGOL2	151246	broad.mit.edu	37	2	201434569	201434569	+	Silent	SNP	A	A	G			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr2:201434569A>G	ENST00000357799.4	+	6	755	c.657A>G	c.(655-657)ttA>ttG	p.L219L	SGOL2_ENST00000409203.3_Silent_p.L219L	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	219					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TATATGGTTTAGATGATTCAG	0.303																																						uc002uvw.2																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(655-657)ttA>ttG		Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.							92.0	93.0	93.0					2																	201434569		1799	4064	5863	SO:0001819	synonymous_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201434569A>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.657A>G	2.37:g.201434569A>G						SGOL2_uc002uvv.4_Silent_p.L219L|SGOL2_uc010zhd.1_Silent_p.L219L|SGOL2_uc010zhe.1_Silent_p.L219L	p.L219L	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			5	770	+			219					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Silent	SNP	ENST00000357799.4	37	c.657A>G	CCDS42796.1																																																																																				0.303	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524	
COL4A3	1285	broad.mit.edu	37	2	228118844	228118844	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr2:228118844A>G	ENST00000396578.3	+	14	944	c.782A>G	c.(781-783)aAg>aGg	p.K261R	AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	261	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAGGGGGAAAAGGGAGACAAG	0.433																																						uc002vom.2																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(781-783)aAg>aGg		Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.							102.0	109.0	107.0					2																	228118844		1888	4116	6004	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228118844A>G		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.782A>G	2.37:g.228118844A>G	ENSP00000379823:p.Lys261Arg					BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	p.K261R	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	13	944	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	261			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.782A>G	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515591	0.64634	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.88509	-2.39	5.49	5.49	0.81192	.	0.000000	0.56097	D	0.000023	D	0.90841	0.7123	L	0.39566	1.225	0.34362	D	0.691052	D;D;D;D	0.89917	0.996;0.998;1.0;0.997	D;D;D;D	0.78314	0.955;0.969;0.991;0.95	D	0.92550	0.6049	10	0.36615	T	0.2	.	11.9828	0.53129	1.0:0.0:0.0:0.0	.	261;261;261;261	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	R	261	ENSP00000379823:K261R	ENSP00000323334:K261R	K	+	2	0	COL4A3	227827088	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	4.247000	0.58750	2.088000	0.63022	0.383000	0.25322	AAG		0.433	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091	
SPHKAP	80309	broad.mit.edu	37	2	228884217	228884217	+	Silent	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr2:228884217G>A	ENST00000392056.3	-	7	1399	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	SPHKAP_ENST00000344657.5_Silent_p.V451V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	451						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGAACAACGACGATTTTGG	0.507																																						uc002vpq.2																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(1351-1353)gtC>gtT		Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.							100.0	98.0	99.0					2																	228884217		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228884217G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1353C>T	2.37:g.228884217G>A						SPHKAP_uc002vpp.2_Silent_p.V451V|SPHKAP_uc010zlx.1_Silent_p.V451V	p.V451V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	6	1400	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	451					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.1353C>T	CCDS46537.1																																																																																				0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
HCK	3055	broad.mit.edu	37	20	30674471	30674471	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr20:30674471G>A	ENST00000520553.1	+	9	1059	c.813G>A	c.(811-813)atG>atA	p.M271I	HCK_ENST00000518730.1_Missense_Mutation_p.M270I|HCK_ENST00000375852.2_Missense_Mutation_p.M292I|HCK_ENST00000375862.2_Missense_Mutation_p.M291I|HCK_ENST00000538448.1_Missense_Mutation_p.M271I|HCK_ENST00000534862.1_Missense_Mutation_p.M272I	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	292	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	TGAAGACGATGAAGCCAGGGA	0.577																																						uc002wxh.3																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(874-876)atG>atA		Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.							94.0	76.0	82.0					20																	30674471		2202	4300	6502	SO:0001583	missense	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30674471G>A	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.813G>A	20.37:g.30674471G>A	ENSP00000429848:p.Met271Ile					HCK_uc010gdy.3_Missense_Mutation_p.M272I|HCK_uc021wbv.1_Missense_Mutation_p.M271I|HCK_uc002wxi.3_Missense_Mutation_p.M270I	p.M292I	NM_001172133	NP_001165604	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		8	1113	+			292			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.876G>A	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487902	0.64074	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97;2.97	5.26	4.31	0.51392	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.09992	0.0245	N	0.17564	0.495	0.53688	D	0.999976	B;B	0.25105	0.057;0.118	B;B	0.38194	0.113;0.267	T	0.18178	-1.0345	10	0.87932	D	0	.	9.56	0.39362	0.1585:0.0:0.8415:0.0	.	270;292	P08631-3;P08631	.;HCK_HUMAN	I	272;271;291;271;270;292	ENSP00000444986:M272I;ENSP00000441169:M271I;ENSP00000365022:M291I;ENSP00000429848:M271I;ENSP00000427757:M270I;ENSP00000365012:M292I	ENSP00000365012:M292I	M	+	3	0	HCK	30138132	1.000000	0.71417	0.998000	0.56505	0.880000	0.50808	6.556000	0.73932	1.450000	0.47717	0.561000	0.74099	ATG		0.577	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1		
SYCP2	10388	broad.mit.edu	37	20	58467047	58467047	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr20:58467047delT	ENST00000357552.3	-	24	2587	c.2362delA	c.(2362-2364)atgfs	p.M788fs	SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M788fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	788					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.M788fs*1(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AAGCTCACCATTTTTTTTTGT	0.323																																						uc002yaz.3																			1	Deletion - Frameshift(1)	p.M788fs*1(2)	ovary(1)	NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2362-2364)atgfs		Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.							72.0	69.0	70.0					20																	58467047		2202	4299	6501	SO:0001589	frameshift_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58467047delT	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2362delA	20.37:g.58467047delT	ENSP00000350162:p.Met788fs						p.M788fs	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		22	2501	-	all_lung(29;0.00344)		788					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Del	DEL	ENST00000357552.3	37	c.2362delA	CCDS13482.1																																																																																				0.323	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
PPARA	5465	broad.mit.edu	37	22	46594404	46594404	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr22:46594404G>A	ENST00000396000.2	+	3	389	c.124G>A	c.(124-126)Ggc>Agc	p.G42S	PPARA_ENST00000407236.1_Missense_Mutation_p.G42S|PPARA_ENST00000402126.1_Missense_Mutation_p.G42S|PPARA_ENST00000434345.2_Missense_Mutation_p.G42S|PPARA_ENST00000262735.5_Missense_Mutation_p.G42S			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	42					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	GCAATCCATCGGCGAGGATAG	0.527																																						uc003bhb.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(124-126)Ggc>Agc		Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)						98.0	106.0	103.0					22																	46594404		2203	4300	6503	SO:0001583	missense	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46594404G>A	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.124G>A	22.37:g.46594404G>A	ENSP00000379322:p.Gly42Ser					PPARA_uc003bgw.1_Missense_Mutation_p.G42S|PPARA_uc003bgx.1_Missense_Mutation_p.G42S|PPARA_uc010hab.1_Missense_Mutation_p.G42S|PPARA_uc003bgy.1_Non-coding_Transcript|PPARA_uc003bgz.1_Non-coding_Transcript|PPARA_uc003bha.3_Missense_Mutation_p.G42S|PPARA_uc010hac.1_5'UTR	p.G42S	NM_005036	NP_005027	Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	1	247	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	42					B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	c.124G>A	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539479	0.45176	.	.	ENSG00000186951	ENST00000415785;ENST00000396000;ENST00000262735;ENST00000420804;ENST00000407236;ENST00000402126;ENST00000434345	D;D;D;D;D;D	0.96885	-3.23;-3.23;-4.16;-3.23;-3.23;-3.04	5.7	4.68	0.58851	.	0.128101	0.53938	D	0.000058	D	0.93766	0.8007	L	0.55834	1.745	0.21105	N	0.999788	B;B	0.15473	0.013;0.013	B;B	0.11329	0.006;0.006	T	0.83299	-0.0029	10	0.19147	T	0.46	.	13.5568	0.61763	0.0:0.0:0.8444:0.1556	.	42;42	F1D8S4;Q07869	.;PPARA_HUMAN	S	42	ENSP00000379322:G42S;ENSP00000262735:G42S;ENSP00000414752:G42S;ENSP00000385523:G42S;ENSP00000385246:G42S;ENSP00000408149:G42S	ENSP00000262735:G42S	G	+	1	0	PPARA	44973068	0.988000	0.35896	0.045000	0.18777	0.939000	0.58152	2.756000	0.47549	1.384000	0.46424	0.655000	0.94253	GGC		0.527	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928	
DPPA4	55211	broad.mit.edu	37	3	109050752	109050752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr3:109050752C>T	ENST00000335658.6	-	3	359	c.305G>A	c.(304-306)tGg>tAg	p.W102*	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	102					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTGTTGGCACCAGGCCCGCAG	0.532																																						uc003dxq.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(304-306)tGg>tAg		Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.							133.0	130.0	131.0					3																	109050752		2203	4300	6503	SO:0001587	stop_gained	55211					nucleus	protein binding	g.chr3:109050752C>T	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.305G>A	3.37:g.109050752C>T	ENSP00000335306:p.Trp102*					DPPA4_uc011bho.2_Nonsense_Mutation_p.W102*|DPPA4_uc011bhp.1_Nonsense_Mutation_p.W102*	p.W102*	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			2	360	-			102					A8K4M7|Q9H9N5|Q9NVI6	Nonsense_Mutation	SNP	ENST00000335658.6	37	c.305G>A	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486447	0.63962	.	.	ENSG00000121570	ENST00000335658	.	.	.	4.76	4.76	0.60689	.	0.000000	0.51477	D	0.000081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.89	13.5262	0.61597	0.0:1.0:0.0:0.0	.	.	.	.	X	102	.	.	W	-	2	0	DPPA4	110533442	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	3.118000	0.50414	2.650000	0.89964	0.650000	0.86243	TGG		0.532	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189	
FNDC3B	64778	broad.mit.edu	37	3	172096080	172096080	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr3:172096080G>A	ENST00000336824.4	+	24	3128	c.3029G>A	c.(3028-3030)gGa>gAa	p.G1010E	FNDC3B_ENST00000415807.2_Missense_Mutation_p.G1010E|FNDC3B_ENST00000416957.1_Missense_Mutation_p.G1010E	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1010	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ATCTACAGAGGACCCAGCCAC	0.448																																						uc003fhy.3																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(3028-3030)gGa>gAa		Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.							75.0	72.0	73.0					3																	172096080		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172096080G>A	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3029G>A	3.37:g.172096080G>A	ENSP00000338523:p.Gly1010Glu					FNDC3B_uc003fhz.4_Missense_Mutation_p.G1010E	p.G1010E	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	23	3201	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		1010			Fibronectin type-III 8.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.3029G>A	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900541	0.92035	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.56275	0.47;0.47;0.47	5.36	5.36	0.76844	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80259	0.4590	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85212	0.1021	10	0.87932	D	0	-16.0796	19.0873	0.93209	0.0:0.0:1.0:0.0	.	1010	Q53EP0	FND3B_HUMAN	E	1010	ENSP00000411242:G1010E;ENSP00000338523:G1010E;ENSP00000389094:G1010E	ENSP00000338523:G1010E	G	+	2	0	FNDC3B	173578774	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.447000	0.97595	2.508000	0.84585	0.655000	0.94253	GGA		0.448	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763	
CPZ	8532	broad.mit.edu	37	4	8621243	8621243	+	Missense_Mutation	SNP	C	C	T	rs143690050		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr4:8621243C>T	ENST00000360986.4	+	11	2032	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	CPZ_ENST00000429646.2_Missense_Mutation_p.R228W|CPZ_ENST00000315782.6_Missense_Mutation_p.R609W|CPZ_ENST00000382480.2_Missense_Mutation_p.R483W	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	620					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGACCCGCTCCGGGCGCGCAG	0.667																																						uc003glm.3																			0		p.R620L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1858-1860)Cgg>Tgg		Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.		C	TRP/ARG,TRP/ARG,TRP/ARG	1,4399	2.1+/-5.4	0,1,2199	30.0	33.0	32.0		1858,1447,1825	0.1	0.0	4	dbSNP_134	32	2,8594	2.2+/-6.3	0,2,4296	no	missense,missense,missense	CPZ	NM_001014447.2,NM_001014448.2,NM_003652.3	101,101,101	0,3,6495	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	620/653,483/516,609/642	8621243	3,12993	2200	4298	6498	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8621243C>T	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1858C>T	4.37:g.8621243C>T	ENSP00000354255:p.Arg620Trp					CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.R609W|CPZ_uc003gln.3_Missense_Mutation_p.R483W	p.R620W	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN			10	2032	+			620					O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.1858C>T	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748734	0.49257	2.27E-4	2.33E-4	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782;ENST00000429646	T;T;T;T	0.58797	0.63;2.01;0.31;1.88	4.54	0.0466	0.14256	.	1.370110	0.05028	U	0.474192	T	0.53222	0.1783	L	0.36672	1.1	0.09310	N	1	D;D	0.65815	0.995;0.985	P;B	0.50708	0.648;0.332	T	0.46076	-0.9217	10	0.72032	D	0.01	-21.2162	3.3996	0.07319	0.0993:0.3229:0.4263:0.1515	.	609;620	Q66K79-2;Q66K79	.;CBPZ_HUMAN	W	620;483;609;228	ENSP00000354255:R620W;ENSP00000371920:R483W;ENSP00000315074:R609W;ENSP00000403981:R228W	ENSP00000315074:R609W	R	+	1	2	CPZ	8672143	0.212000	0.23540	0.036000	0.18154	0.015000	0.08874	1.604000	0.36804	0.312000	0.23038	-0.502000	0.04539	CGG		0.667	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652	
ADH1C	126	broad.mit.edu	37	4	100268910	100268910	+	RNA	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr4:100268910G>A	ENST00000510055.1	-	0	286				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	ACCTTAATGCGAACTTCATGA	0.338																																						uc021xqi.1																			0													Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.	Fomepizole(DB01213)|NADH(DB00157)						70.0	67.0	68.0					4																	100268910		2203	4300	6503			126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100268910G>A	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100268910G>A								NM_000669		P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	1		-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	Missense_Mutation	SNP	ENST00000510055.1	37	c.197C>T																																																																																					0.338	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669	
LRBA	987	broad.mit.edu	37	4	151791721	151791725	+	Frame_Shift_Del	DEL	TTATG	TTATG	-			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr4:151791721_151791725delTTATG	ENST00000357115.3	-	20	2644_2648	c.2401_2405delCATAA	c.(2401-2406)cataaafs	p.HK801fs	LRBA_ENST00000507224.1_Frame_Shift_Del_p.HK801fs|LRBA_ENST00000510413.1_Frame_Shift_Del_p.HK801fs|LRBA_ENST00000535741.1_Frame_Shift_Del_p.HK801fs	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	801						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGGATGCTGTTTATGTATCACCTGA	0.312																																						uc010ipj.3																			0		p.I800V(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(2401-2406)cataaafs		Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151791721_151791725delTTATG	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.2401_2405delCATAA	4.37:g.151791721_151791725delTTATG	ENSP00000349629:p.His801fs					LRBA_uc003ilu.4_Frame_Shift_Del_p.H801fs	p.H801fs	NM_006726	NP_006717	P50851	LRBA_HUMAN			19	2645_2649	-	all_hematologic(180;0.151)		801					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Frame_Shift_Del	DEL	ENST00000357115.3	37	c.2401_2405delCATAA	CCDS3773.1																																																																																				0.312	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
DCHS2	54798	broad.mit.edu	37	4	155249289	155249289	+	Missense_Mutation	SNP	G	G	A	rs111557030	byFrequency	TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr4:155249289G>A	ENST00000357232.4	-	12	2608	c.2609C>T	c.(2608-2610)cCt>cTt	p.P870L	DCHS2_ENST00000339452.1_Missense_Mutation_p.P1325L	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	870	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P870H(1)|p.P1325H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCTTCATCAGGATCCTTTGC	0.348													G|||	10	0.00199681	0.0	0.0058	5008	,	,		16241	0.0		0.006	False		,,,				2504	0.0					uc003inw.2																			2	Substitution - Missense(2)	p.P870H(2)|p.P1325H(1)	lung(2)	NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(2608-2610)cCt>cTt		Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.		G	LEU/PRO,LEU/PRO	11,4395	17.9+/-39.9	0,11,2192	130.0	129.0	129.0		3974,2609	2.1	0.9	4	dbSNP_132	129	93,8507	51.5+/-111.7	0,93,4207	yes	missense,missense	DCHS2	NM_001142552.1,NM_017639.3	98,98	0,104,6399	AA,AG,GG		1.0814,0.2497,0.7996	benign,benign	1325/1370,870/2917	155249289	104,12902	2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155249289G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2609C>T	4.37:g.155249289G>A	ENSP00000349768:p.Pro870Leu					DCHS2_uc003inx.2_Missense_Mutation_p.P1325L	p.P870L	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	11	2609	-	all_hematologic(180;0.208)	Renal(120;0.0854)	870			Cadherin 7.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.2609C>T	CCDS3785.1	5	0.0022893772893772895	0	0.0	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	G	3.382	-0.126215	0.06795	0.002497	0.010814	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.60672	0.17;0.17	5.67	2.07	0.26955	Cadherin (4);Cadherin-like (1);	0.662303	0.13901	N	0.354883	T	0.23806	0.0576	N	0.05124	-0.11	0.53688	D	0.99997	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.04090	-1.0978	10	0.20046	T	0.44	.	7.9879	0.30222	0.6942:0.0:0.3058:0.0	.	1325;870	E9PC11;Q6V1P9	.;PCD23_HUMAN	L	870;1325;1325	ENSP00000349768:P870L;ENSP00000345062:P1325L	ENSP00000345062:P1325L	P	-	2	0	DCHS2	155468739	0.995000	0.38212	0.936000	0.37596	0.995000	0.86356	1.343000	0.33930	0.451000	0.26802	-0.302000	0.09304	CCT		0.348	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
ADAMTS16	170690	broad.mit.edu	37	5	5146447	5146447	+	Missense_Mutation	SNP	C	C	T	rs558198391		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:5146447C>T	ENST00000274181.7	+	3	518	c.380C>T	c.(379-381)aCg>aTg	p.T127M	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.T127M|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	127					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATTGTGCAGACGTTGGGAAAG	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18082	0.0		0.0	False		,,,				2504	0.0					uc003jdl.3																			0		p.Q126*(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(379-381)aCg>aTg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.							98.0	99.0	99.0					5																	5146447		1954	4141	6095	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5146447C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.380C>T	5.37:g.5146447C>T	ENSP00000274181:p.Thr127Met					ADAMTS16_uc003jdk.1_Missense_Mutation_p.T127M|ADAMTS16_uc003jdj.1_Missense_Mutation_p.T127M	p.T127M	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			2	518	+			127					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.380C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	9.866	1.197707	0.22037	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.06933	3.24;3.24	5.74	2.9	0.33743	Peptidase M12B, propeptide (1);	0.208532	0.40554	N	0.001069	T	0.07773	0.0195	M	0.62154	1.92	0.42064	D	0.991173	P;B;B	0.44006	0.824;0.383;0.437	B;B;B	0.32583	0.13;0.091;0.148	T	0.26292	-1.0107	10	0.39692	T	0.17	.	8.8385	0.35126	0.0:0.7264:0.1277:0.1459	.	127;127;127	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	M	127	ENSP00000274181:T127M;ENSP00000421631:T127M	ENSP00000274181:T127M	T	+	2	0	ADAMTS16	5199447	0.981000	0.34729	0.694000	0.30210	0.338000	0.28826	2.407000	0.44565	0.848000	0.35191	0.563000	0.77884	ACG		0.522	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
ADAMTS16	170690	broad.mit.edu	37	5	5190212	5190212	+	Silent	SNP	T	T	C			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:5190212T>C	ENST00000274181.7	+	7	1314	c.1176T>C	c.(1174-1176)tgT>tgC	p.C392C	ADAMTS16_ENST00000511368.1_Silent_p.C392C	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	392	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGATATATGTTCCTGGAAGA	0.527																																						uc003jdl.3																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1174-1176)tgT>tgC		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.							144.0	142.0	143.0					5																	5190212		2043	4184	6227	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5190212T>C	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1176T>C	5.37:g.5190212T>C						ADAMTS16_uc003jdk.1_Silent_p.C392C|ADAMTS16_uc003jdj.1_Silent_p.C392C	p.C392C	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			6	1314	+			392			Peptidase M12B.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.1176T>C	CCDS43299.1																																																																																				0.527	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
RASGRF2	5924	broad.mit.edu	37	5	80408515	80408515	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:80408515C>T	ENST00000265080.4	+	14	1992	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	642	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATCCGTTATGCCAGCGTGGAG	0.483																																						uc003kha.2																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1924-1926)gCc>gTc		Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.							195.0	191.0	193.0					5																	80408515		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80408515C>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1925C>T	5.37:g.80408515C>T	ENSP00000265080:p.Ala642Val					RASGRF2_uc011ctn.2_Non-coding_Transcript	p.A642V	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	13	1975	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	642			N-terminal Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.1925C>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456331	0.96223	.	.	ENSG00000113319	ENST00000265080	T	0.55588	0.51	5.79	5.79	0.91817	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78071	-0.2347	10	0.87932	D	0	.	19.684	0.95974	0.0:1.0:0.0:0.0	.	642	O14827	RGRF2_HUMAN	V	642	ENSP00000265080:A642V	ENSP00000265080:A642V	A	+	2	0	RASGRF2	80444271	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.758000	0.85224	2.752000	0.94435	0.558000	0.71614	GCC		0.483	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909	
PCDHGB2	56103	broad.mit.edu	37	5	140741338	140741338	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:140741338G>A	ENST00000522605.1	+	1	1636	c.1636G>A	c.(1636-1638)Gtg>Atg	p.V546M	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	546	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCGCCAACGTGAGCCTGCG	0.682																																						uc003ljs.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1636-1638)Gtg>Atg		Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.							30.0	37.0	35.0					5																	140741338		2090	4212	6302	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140741338G>A	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1636G>A	5.37:g.140741338G>A	ENSP00000429018:p.Val546Met					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.V546M|PCDHGC5_uc011das.2_5'Flank	p.V546M	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1636	+			548			Cadherin 5.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1636G>A	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	15.09	2.729602	0.48833	.	.	ENSG00000253910	ENST00000522605	T	0.02050	4.48	5.11	5.11	0.69529	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.08133	0.0203	M	0.76170	2.325	0.25997	N	0.982172	D;D	0.59767	0.979;0.986	P;P	0.53146	0.579;0.719	T	0.08310	-1.0728	9	0.66056	D	0.02	.	11.9814	0.53121	0.0813:0.0:0.9187:0.0	.	546;546	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	M	546	ENSP00000429018:V546M	ENSP00000429018:V546M	V	+	1	0	PCDHGB2	140721522	0.038000	0.19896	1.000000	0.80357	0.230000	0.25150	1.548000	0.36201	2.528000	0.85240	0.467000	0.42956	GTG		0.682	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923	
TIMD4	91937	broad.mit.edu	37	5	156346519	156346519	+	Silent	SNP	G	G	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:156346519G>T	ENST00000274532.2	-	9	1142	c.1086C>A	c.(1084-1086)ctC>ctA	p.L362L	TIMD4_ENST00000406964.1_Silent_p.L64L|TIMD4_ENST00000407087.3_Silent_p.L334L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	362						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCACGTCATTGAGGACATTTT	0.438																																						uc003lwh.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(1084-1086)ctC>ctA		Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.							173.0	149.0	158.0					5																	156346519		2203	4300	6503	SO:0001819	synonymous_variant	91937					integral to membrane		g.chr5:156346519G>T	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.1086C>A	5.37:g.156346519G>T						TIMD4_uc010jii.2_Silent_p.L334L|TIMD4_uc003lwg.2_Silent_p.L64L	p.L362L	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		8	1143	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	362					B5MCL9	Silent	SNP	ENST00000274532.2	37	c.1086C>A	CCDS4332.1																																																																																				0.438	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379	
GABRA6	2559	broad.mit.edu	37	5	161116076	161116076	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:161116076C>A	ENST00000274545.5	+	4	780	c.347C>A	c.(346-348)aCc>aAc	p.T116N	GABRA6_ENST00000523217.1_Missense_Mutation_p.T106N|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	116					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ACGCCTGACACCTTTTTCAGA	0.418										TCGA Ovarian(5;0.080)																												uc003lyu.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(346-348)aCc>aAc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						67.0	67.0	67.0					5																	161116076		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161116076C>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.347C>A	5.37:g.161116076C>A	ENSP00000274545:p.Thr116Asn	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_5'Flank	p.T116N	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	685	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	116					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.347C>A	CCDS4356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.699257|4.699257	0.88830|0.88830	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000520000|ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691	.|T;T;T;T	.|0.80824	.|-1.42;-1.42;-1.42;-1.42	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93549|0.93549	0.7941|0.7941	H|H	0.96269|0.96269	3.795|3.795	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.94734|0.94734	0.7912|0.7912	5|10	.|0.72032	.|D	.|0.01	.|.	20.0965|20.0965	0.97849|0.97849	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|116	.|Q16445	.|GBRA6_HUMAN	T|N	56|116;106;63;11	.|ENSP00000274545:T116N;ENSP00000430527:T106N;ENSP00000430212:T63N;ENSP00000427989:T11N	.|ENSP00000274545:T116N	P|T	+|+	1|2	0|0	GABRA6|GABRA6	161048654|161048654	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.684000|7.684000	0.84104|0.84104	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CCT|ACC		0.418	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		
TMEM63B	55362	broad.mit.edu	37	6	44107303	44107303	+	Silent	SNP	C	C	T	rs145356402		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr6:44107303C>T	ENST00000259746.9	+	7	690	c.507C>T	c.(505-507)tcC>tcT	p.S169S	TMEM63B_ENST00000527188.1_3'UTR|TMEM63B_ENST00000323267.6_Silent_p.S169S			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	169					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)	p.S169S(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GCGTCCTCTCCGTAGGCATCG	0.627																																						uc003owr.3																			1	Substitution - coding silent(1)	p.S169S(2)	pancreas(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35						c.(505-507)tcC>tcT		Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.		C		0,4406		0,0,2203	138.0	103.0	115.0		507	-2.1	0.8	6	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM63B	NM_018426.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		169/833	44107303	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44107303C>T	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.507C>T	6.37:g.44107303C>T						TMEM63B_uc003owq.1_Silent_p.S169S|TMEM63B_uc010jyy.1_Silent_p.S72S|TMEM63B_uc003ows.3_Silent_p.S72S|TMEM63B_uc010jyz.3_5'Flank	p.S169S	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		6	571	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		169					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Silent	SNP	ENST00000259746.9	37	c.507C>T	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	C	1.912	-0.450533	0.04572	0.0	1.16E-4	ENSG00000137216	ENST00000371893	.	.	.	4.53	-2.07	0.07276	.	.	.	.	.	T	0.33644	0.0870	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33085	-0.9882	4	.	.	.	.	6.2324	0.20742	0.117:0.4254:0.0:0.4576	.	.	.	.	L	98	.	.	P	+	2	0	TMEM63B	44215281	0.000000	0.05858	0.825000	0.32803	0.041000	0.13682	-2.743000	0.00797	-0.720000	0.04935	0.561000	0.74099	CCG		0.627	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410	
VNN2	8875	broad.mit.edu	37	6	133078573	133078573	+	Missense_Mutation	SNP	G	G	A	rs149351884		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr6:133078573G>A	ENST00000326499.6	-	2	450	c.326C>T	c.(325-327)cCg>cTg	p.P109L	VNN2_ENST00000525270.1_Missense_Mutation_p.P56L|VNN2_ENST00000525289.1_Missense_Mutation_p.P109L|VNN2_ENST00000526192.1_5'UTR	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	109	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTCTTGACACGGAATCCAGTT	0.418																																						uc003qdt.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(325-327)cCg>cTg		Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.		G	LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	80.0	85.0	84.0		326,326,167	5.3	1.0	6	dbSNP_134	84	0,8600		0,0,4300	yes	missense,missense,missense	VNN2	NM_001242350.1,NM_004665.2,NM_078488.1	98,98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	109/300,109/521,56/468	133078573	1,13005	2203	4300	6503	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133078573G>A	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.326C>T	6.37:g.133078573G>A	ENSP00000322276:p.Pro109Leu					VNN2_uc003qds.3_5'UTR|VNN2_uc010kgb.3_Missense_Mutation_p.P109L|VNN2_uc003qdv.3_Missense_Mutation_p.P56L	p.P109L	NM_004665	NP_004656	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	1	337	-			109			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.326C>T	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505223	0.44558	2.27E-4	0.0	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289;ENST00000524919;ENST00000530536	D;D;D;D;D	0.94330	-2.95;-3.05;-2.88;-2.15;-3.4	5.27	5.27	0.74061	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.64402	D	0.000004	D	0.94716	0.8295	M	0.81497	2.545	0.54753	D	0.999981	D;P	0.67145	0.996;0.948	P;P	0.55871	0.786;0.67	D	0.94227	0.7473	10	0.48119	T	0.1	-8.3518	14.4979	0.67702	0.0728:0.0:0.9271:0.0	.	109;109	O95498-2;O95498	.;VNN2_HUMAN	L	109;56;109;109;56	ENSP00000322276:P109L;ENSP00000436822:P56L;ENSP00000436935:P109L;ENSP00000431451:P109L;ENSP00000434210:P56L	ENSP00000322276:P109L	P	-	2	0	VNN2	133120266	1.000000	0.71417	0.988000	0.46212	0.037000	0.13140	5.627000	0.67784	2.608000	0.88229	0.609000	0.83330	CCG		0.418	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2		
GRM3	2913	broad.mit.edu	37	7	86468833	86468833	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr7:86468833G>A	ENST00000361669.2	+	4	3102	c.2003G>A	c.(2002-2004)cGc>cAc	p.R668H	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.R540H|GRM3_ENST00000546348.1_Missense_Mutation_p.R260H|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	668					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGCATTGCCCGCATCTTCGAT	0.537																																					GBM(52;969 1098 3139 52280)	uc003uid.3																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(2002-2004)cGc>cAc		Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	Acamprosate(DB00659)|Nicotine(DB00184)						114.0	107.0	109.0					7																	86468833		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468833G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2003G>A	7.37:g.86468833G>A	ENSP00000355316:p.Arg668His					GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.R540H|GRM3_uc010leh.3_Missense_Mutation_p.R260H	p.R668H	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	3102	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		668					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.2003G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593198	0.86953	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.89746	-2.56;-2.56;-2.56	5.69	5.69	0.88448	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95720	0.8608	M	0.90145	3.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96133	0.9094	10	0.87932	D	0	.	18.7888	0.91965	0.0:0.0:1.0:0.0	.	260;540;668	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	H	668;260;540	ENSP00000355316:R668H;ENSP00000444064:R260H;ENSP00000441407:R540H	ENSP00000355316:R668H	R	+	2	0	GRM3	86306769	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.869000	0.99810	2.683000	0.91414	0.563000	0.77884	CGC		0.537	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2		
ZKSCAN5	23660	broad.mit.edu	37	7	99123821	99123821	+	Silent	SNP	G	G	T	rs578188356		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr7:99123821G>T	ENST00000394170.2	+	6	1409	c.1158G>T	c.(1156-1158)cgG>cgT	p.R386R	ZKSCAN5_ENST00000326775.5_Silent_p.R386R|ZKSCAN5_ENST00000451158.1_Silent_p.R386R	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ACAATCAGCGGGTGCACCTCA	0.537																																						uc003uqv.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1156-1158)cgG>cgT		Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.							110.0	104.0	106.0					7																	99123821		2203	4300	6503	SO:0001819	synonymous_variant	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99123821G>T	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1158G>T	7.37:g.99123821G>T						ZKSCAN5_uc010lfx.3_Silent_p.R386R|ZKSCAN5_uc003uqw.3_Silent_p.R386R|ZKSCAN5_uc003uqx.3_Silent_p.R313R|ZKSCAN5_uc003uqy.3_Silent_p.R122R	p.R386R	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN			5	1282	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		386					A4D280|D6W5S9	Silent	SNP	ENST00000394170.2	37	c.1158G>T	CCDS5667.1																																																																																				0.537	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569	
KEL	3792	broad.mit.edu	37	7	142658590	142658590	+	Splice_Site	SNP	T	T	C			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr7:142658590T>C	ENST00000355265.2	-	3	556		c.e3-2		KEL_ENST00000479768.2_Splice_Site	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGAGTGCTCTGTGGGAGGAA	0.552																																						uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.e3-1		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.							15.0	16.0	16.0					7																	142658590		2198	4298	6496	SO:0001630	splice_region_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142658590T>C	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.82-2A>G	7.37:g.142658590T>C							p.S28_splice	NM_000420	NP_000411	P23276	KELL_HUMAN			3	292	-	Melanoma(164;0.059)		28					B2RBV4|Q96RS8|Q99885	Splice_Site	SNP	ENST00000355265.2	37	c.82_splice	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	T	8.244	0.807549	0.16467	.	.	ENSG00000197993	ENST00000355265;ENST00000476829;ENST00000467543;ENST00000460479	.	.	.	4.53	2.15	0.27550	.	.	.	.	.	.	.	.	.	.	.	0.42349	D	0.992364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0174	0.19611	0.0:0.2067:0.0:0.7933	.	.	.	.	.	-1	.	.	.	-	.	.	KEL	142368712	0.482000	0.25948	0.009000	0.14445	0.015000	0.08874	1.524000	0.35942	0.281000	0.22233	-0.379000	0.06801	.		0.552	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	Intron
DLC1	10395	broad.mit.edu	37	8	12956045	12956045	+	Silent	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:12956045C>T	ENST00000276297.4	-	10	3439	c.3030G>A	c.(3028-3030)cgG>cgA	p.R1010R	DLC1_ENST00000358919.2_Silent_p.R573R|DLC1_ENST00000510318.1_5'Flank|DLC1_ENST00000512044.2_Silent_p.R607R|DLC1_ENST00000520226.1_Silent_p.R499R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1010					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGAGGCTTGGCCGATGTGAGC	0.468																																						uc003wwm.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(3028-3030)cgG>cgA		Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.							86.0	76.0	80.0					8																	12956045		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12956045C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3030G>A	8.37:g.12956045C>T						DLC1_uc003wwk.1_Silent_p.R573R|DLC1_uc003wwl.1_Silent_p.R607R|DLC1_uc011kxx.1_Silent_p.R499R	p.R1010R	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			9	3474	-			1010					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.3030G>A	CCDS5989.1																																																																																				0.468	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
TUSC3	7991	broad.mit.edu	37	8	15519787	15519787	+	Silent	SNP	T	T	G			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:15519787T>G	ENST00000503731.1	+	5	838	c.690T>G	c.(688-690)ggT>ggG	p.G230G	TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000506802.1_Silent_p.G230G|TUSC3_ENST00000509380.1_Silent_p.G230G|TUSC3_ENST00000382020.4_Silent_p.G230G	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	230					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		ACAAGACTGGTTGGGCCATGG	0.368																																						uc003wwt.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28						c.(688-690)ggT>ggG		Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.							198.0	192.0	194.0					8																	15519787		2203	4300	6503	SO:0001819	synonymous_variant	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15519787T>G	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.690T>G	8.37:g.15519787T>G						TUSC3_uc003wwu.3_Silent_p.G230G	p.G230G	NM_006765	NP_006756	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	4	1034	+			230					A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Silent	SNP	ENST00000503731.1	37	c.690T>G	CCDS5994.1																																																																																				0.368	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765	
BMP1	649	broad.mit.edu	37	8	22020183	22020183	+	5'Flank	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:22020183G>A	ENST00000306385.5	+	0	0				BMP1_ENST00000397816.3_5'Flank|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_Missense_Mutation_p.V47I|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000524255.1_Intron|BMP1_ENST00000306349.8_5'Flank|SFTPC_ENST00000522109.1_Missense_Mutation_p.V47I|SFTPC_ENST00000521315.1_Missense_Mutation_p.V47I|BMP1_ENST00000397814.3_5'Flank|SFTPC_ENST00000318561.3_Missense_Mutation_p.V47I	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGTCCTCATCGTCGTGGTGAT	0.597																																						uc003xaw.4																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(286-288)Gtc>Atc		Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.							114.0	123.0	120.0					8																	22020183		2129	4230	6359	SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22020183G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020183G>A	Exception_encountered					SFTPC_uc003xax.4_Missense_Mutation_p.V47I|SFTPC_uc003xay.4_Missense_Mutation_p.V47I|SFTPC_uc003xaz.3_Missense_Mutation_p.V47I|SFTPC_uc011kza.1_Missense_Mutation_p.V47I|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	p.V96I	NM_001172357	NP_001165828	P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	4	989	+			47			BRICHOS.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.286G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793248	0.70452	.	.	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000437090;ENST00000522109;ENST00000518615	D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41	4.41	4.41	0.53225	Surfactant protein C, N-terminal propeptide (1);	0.000000	0.37219	N	0.002191	D	0.95404	0.8508	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.81914	0.995;0.995;0.993;0.995;0.993	D	0.93646	0.6969	10	0.21014	T	0.42	-9.2479	12.875	0.57986	0.0:0.0:1.0:0.0	.	47;47;47;47;47	P11686-2;E9PGX3;C9JYF6;P11686;E5RI92	.;.;.;PSPC_HUMAN;.	I	47	ENSP00000316152:V47I;ENSP00000430410:V47I;ENSP00000407931:V47I;ENSP00000429496:V47I;ENSP00000428817:V47I	ENSP00000316152:V47I	V	+	1	0	SFTPC	22076128	1.000000	0.71417	0.846000	0.33378	0.696000	0.40369	5.608000	0.67654	2.164000	0.68074	0.563000	0.77884	GTC		0.597	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132	
PHYHIP	9796	broad.mit.edu	37	8	22079267	22079267	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:22079267C>G	ENST00000321613.3	-	6	1048	c.592G>C	c.(592-594)Gac>Cac	p.D198H	PHYHIP_ENST00000454243.2_Missense_Mutation_p.D198H	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	198										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TAGGGGGAGTCCTGCGGGGGC	0.627																																						uc003xbk.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10						c.(592-594)Gac>Cac		Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA.							14.0	20.0	18.0					8																	22079267		1960	4137	6097	SO:0001583	missense	9796							g.chr8:22079267C>G	D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"""phytanoyl-CoA hydroxylase interacting protein"", ""DYRK1A interacting protein 3"""	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.592G>C	8.37:g.22079267C>G	ENSP00000320017:p.Asp198His					PHYHIP_uc003xbj.4_Missense_Mutation_p.D198H	p.D198H	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN		Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)	5	1286	-			198					D3DSR1|Q8N4I9	Missense_Mutation	SNP	ENST00000321613.3	37	c.592G>C	CCDS43723.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.443210	0.63067	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000456132;ENST00000523252	T;T	0.32515	1.45;1.45	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.49932	0.1586	L	0.53729	1.69	0.53688	D	0.999978	D	0.89917	1.0	D	0.97110	1.0	T	0.35475	-0.9787	10	0.25751	T	0.34	-41.8378	16.8934	0.86093	0.0:1.0:0.0:0.0	.	198	Q92561	PHYIP_HUMAN	H	198;198;105;150	ENSP00000320017:D198H;ENSP00000415491:D198H	ENSP00000320017:D198H	D	-	1	0	PHYHIP	22135212	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	7.715000	0.84713	2.352000	0.79861	0.555000	0.69702	GAC		0.627	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759	
PCMTD1	115294	broad.mit.edu	37	8	52733107	52733107	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:52733107T>C	ENST00000360540.5	-	7	1284	c.878A>G	c.(877-879)aAt>aGt	p.N293S	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.N293S|PCMTD1_ENST00000544451.1_Missense_Mutation_p.N217S	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	293						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AATAAGCTGATTACCCACAAA	0.408																																						uc003xqx.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(877-879)aAt>aGt		Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.							187.0	182.0	184.0					8																	52733107		2203	4300	6503	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733107T>C		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.878A>G	8.37:g.52733107T>C	ENSP00000353739:p.Asn293Ser					PCMTD1_uc011ldm.2_Missense_Mutation_p.N163S|PCMTD1_uc011ldn.2_Missense_Mutation_p.N105S|PCMTD1_uc010lya.3_Missense_Mutation_p.N217S	p.N293S	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			5	1219	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	293					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.878A>G	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	T	19.21	3.784013	0.70222	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.44482	0.92;0.92;0.92	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	L	0.60455	1.87	0.80722	D	1	D;D;B	0.71674	0.997;0.998;0.017	D;D;B	0.80764	0.985;0.994;0.018	T	0.55412	-0.8145	10	0.27785	T	0.31	-7.6815	16.4473	0.83942	0.0:0.0:0.0:1.0	.	163;217;293	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	S	293;217;293	ENSP00000353739:N293S;ENSP00000444026:N217S;ENSP00000428099:N293S	ENSP00000353739:N293S	N	-	2	0	PCMTD1	52895660	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	7.244000	0.78228	2.281000	0.76405	0.533000	0.62120	AAT		0.408	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937	
KCNB2	9312	broad.mit.edu	37	8	73848231	73848231	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:73848231C>T	ENST00000523207.1	+	3	1229	c.641C>T	c.(640-642)aCg>aTg	p.T214M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	214					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TCTCTCAATACGCTGCCGGAG	0.478																																						uc003xzb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(640-642)aCg>aTg		Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.							206.0	195.0	198.0					8																	73848231		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848231C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.641C>T	8.37:g.73848231C>T	ENSP00000430846:p.Thr214Met						p.T214M	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1229	+	Breast(64;0.137)		214					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.641C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873342	0.91664	.	.	ENSG00000182674	ENST00000523207	D	0.97791	-4.54	5.87	5.87	0.94306	.	0.000000	0.47093	D	0.000258	D	0.99254	0.9740	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98886	1.0771	10	0.87932	D	0	.	20.2055	0.98275	0.0:1.0:0.0:0.0	.	214	Q92953	KCNB2_HUMAN	M	214	ENSP00000430846:T214M	ENSP00000430846:T214M	T	+	2	0	KCNB2	74010785	1.000000	0.71417	0.963000	0.40424	0.852000	0.48524	7.818000	0.86416	2.773000	0.95371	0.655000	0.94253	ACG		0.478	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
CNKSR2	22866	broad.mit.edu	37	X	21508621	21508621	+	Silent	SNP	G	G	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chrX:21508621G>T	ENST00000379510.3	+	6	642	c.606G>T	c.(604-606)tcG>tcT	p.S202S	CNKSR2_ENST00000543067.1_Silent_p.S202S|CNKSR2_ENST00000279451.4_Silent_p.S202S|CNKSR2_ENST00000425654.2_Silent_p.S202S	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	202					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TATCCCTGTCGTCAGATCCTC	0.398																																						uc004czx.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(604-606)tcG>tcT		Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.							155.0	127.0	136.0					X																	21508621		2203	4300	6503	SO:0001819	synonymous_variant	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21508621G>T	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.606G>T	X.37:g.21508621G>T						CNKSR2_uc004czw.3_Silent_p.S202S|CNKSR2_uc011mjn.2_Silent_p.S202S|CNKSR2_uc011mjo.2_Silent_p.S202S	p.S202S	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			5	1086	+			202					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Silent	SNP	ENST00000379510.3	37	c.606G>T	CCDS14198.1																																																																																				0.398	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	
