#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
AGRN	375790	broad.mit.edu	37	1	985841	985841	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:985841C>T	ENST00000379370.2	+	29	5061	c.5011C>T	c.(5011-5013)Cga>Tga	p.R1671*		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1671	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		R -> Q. {ECO:0000269|PubMed:19631309}.		axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GTTCCTGGCACGAGGCCCCAG	0.677																																						uc001ack.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(5011-5013)Cga>Tga		Homo sapiens agrin (AGRN), mRNA.							27.0	31.0	30.0					1																	985841		2202	4298	6500	SO:0001587	stop_gained	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:985841C>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.5011C>T	1.37:g.985841C>T	ENSP00000368678:p.Arg1671*						p.R1671*	NM_198576	NP_940978	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	28	5061	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	1671			Laminin G-like 2.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Nonsense_Mutation	SNP	ENST00000379370.2	37	c.5011C>T	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	C	42	9.616711	0.99220	.	.	ENSG00000188157	ENST00000379370;ENST00000379364	.	.	.	4.68	3.7	0.42460	.	0.340491	0.22887	U	0.054439	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-21.5764	12.4474	0.55659	0.3191:0.6809:0.0:0.0	.	.	.	.	X	1671;10	.	ENSP00000368671:R10X	R	+	1	2	AGRN	975704	0.667000	0.27484	0.544000	0.28141	0.004000	0.04260	2.203000	0.42752	2.166000	0.68216	0.479000	0.44913	CGA		0.677	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576	
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs200907281	byFrequency	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458													.|||	1958	0.390974	0.1899	0.3501	5008	,	,		13255	0.6895		0.4553	False		,,,				2504	0.318					uc001auk.2																			3	Substitution - coding silent(3)	p.L274L(6)	kidney(2)|endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(820-822)ctC>ctA		Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.							67.0	40.0	49.0					1																	12885289		582	1168	1750	SO:0001819	synonymous_variant	440560							g.chr1:12885289G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.822C>A	1.37:g.12885289G>T							p.L274L	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			3	1018	-			274						Silent	SNP	ENST00000535591.1	37	c.822C>A	CCDS53268.1																																																																																				0.458	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341	
ESPNP	284729	broad.mit.edu	37	1	17017717	17017717	+	RNA	SNP	C	C	T	rs12561804	byFrequency	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:17017717C>T	ENST00000492551.1	-	0	2010					NR_026567.1				espin pseudogene																		GCTCACCTCTCTTCTTCCAGC	0.622																																						uc001azn.1																			0											c.(1897-1899)Gag>Aag		Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																																						284729							g.chr1:17017717C>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17017717C>T							p.E633K							10	2011	-									Missense_Mutation	SNP	ENST00000492551.1	37	c.1897G>A																																																																																					0.622	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1		
ESPNP	284729	broad.mit.edu	37	1	17017734	17017734	+	RNA	SNP	C	C	T	rs12561805	byFrequency	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:17017734C>T	ENST00000492551.1	-	0	1993					NR_026567.1				espin pseudogene																		CAGCTTCTTCCGCAGGAGGTC	0.647													c|||	1453	0.290136	0.1589	0.3184	5008	,	,		38815	0.4425		0.2913	False		,,,				2504	0.2894					uc001azn.1																			0											c.(1879-1881)cGg>cAg		Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																																						284729							g.chr1:17017734C>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17017734C>T							p.R627Q							10	1994	-									Missense_Mutation	SNP	ENST00000492551.1	37	c.1880G>A																																																																																					0.647	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1		
MST1L	11223	broad.mit.edu	37	1	17084269	17084269	+	RNA	SNP	G	G	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:17084269G>T	ENST00000455405.2	-	0	539							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.A583V(1)									ACCCCAGCCTGCAATCTCACA	0.582																																						uc010ock.2																			1	Substitution - Missense(1)	p.A583V(1)	lung(1)	breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						c.(1747-1749)gCa>gAa		Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.																																						11223							g.chr1:17084269G>T	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084269G>T						CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.A183E	p.A583E							12	1748	-								B7WPB1|Q13209	Missense_Mutation	SNP	ENST00000455405.2	37	c.1748C>A		.	.	.	.	.	.	.	.	.	.	.	12.45	1.940875	0.34283	.	.	ENSG00000186715	ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.169554	0.27981	N	0.017080	T	0.71099	0.3300	.	.	.	.	.	.	D;D	0.76494	0.997;0.999	D;D	0.76071	0.951;0.987	T	0.77778	-0.2460	5	0.62326	D	0.03	.	.	.	.	.	583;609	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	E	583;609	.	ENSP00000439273:A583E	A	-	2	0	MST1P9	16956856	1.000000	0.71417	0.995000	0.50966	0.000000	0.00434	5.747000	0.68689	0.502000	0.28037	0.000000	0.15137	GCA		0.582	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733	
ARHGEF11	9826	broad.mit.edu	37	1	156917716	156917716	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:156917716G>A	ENST00000361409.2	-	24	2808	c.2066C>T	c.(2065-2067)aCa>aTa	p.T689I	ARHGEF11_ENST00000487682.1_5'Flank|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.T105I|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.T729I	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	689					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGGTATCTGTGCAGAACCC	0.562																																						uc001fqo.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(2065-2067)aCa>aTa		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.							39.0	40.0	39.0					1																	156917716		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156917716G>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2066C>T	1.37:g.156917716G>A	ENSP00000354644:p.Thr689Ile					ARHGEF11_uc010phu.2_Missense_Mutation_p.T105I|ARHGEF11_uc001fqn.3_Missense_Mutation_p.T729I	p.T689I	NM_014784	NP_055599	O15085	ARHGB_HUMAN			23	3106	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		689					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.2066C>T	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244542	0.59103	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.67345	-0.26;-0.25;-0.17	5.07	5.07	0.68467	.	0.316684	0.27482	N	0.019174	T	0.33000	0.0848	N	0.08118	0	0.36339	D	0.859353	P;P;P	0.44478	0.71;0.836;0.579	B;B;B	0.38755	0.281;0.277;0.281	T	0.47195	-0.9136	10	0.51188	T	0.08	-3.4597	13.9189	0.63919	0.0:0.1523:0.8477:0.0	.	105;689;729	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	I	729;689;105	ENSP00000357177:T729I;ENSP00000354644:T689I;ENSP00000313470:T105I	ENSP00000313470:T105I	T	-	2	0	ARHGEF11	155184340	0.934000	0.31675	0.940000	0.37924	0.843000	0.47879	2.660000	0.46749	2.653000	0.90120	0.561000	0.74099	ACA		0.562	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	
OBSCN	84033	broad.mit.edu	37	1	228494214	228494214	+	Missense_Mutation	SNP	G	G	A	rs371734358		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:228494214G>A	ENST00000422127.1	+	44	11845	c.11801G>A	c.(11800-11802)cGc>cAc	p.R3934H	OBSCN_ENST00000284548.11_Missense_Mutation_p.R3934H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1568H|OBSCN_ENST00000570156.2_Missense_Mutation_p.R4891H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1053H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3934	Ig-like 40.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCAATGGGCGCCGGGAGCCA	0.652																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(11800-11802)cGc>cAc		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							26.0	30.0	29.0					1																	228494214		1937	4140	6077	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228494214G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11801G>A	1.37:g.228494214G>A	ENSP00000409493:p.Arg3934His					OBSCN_uc001hsn.3_Missense_Mutation_p.R3934H	p.R3934H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			43	11845	+		Prostate(94;0.0405)	3934			Ig-like 40.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.11801G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833166	0.50951	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.28	5.28	0.74379	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.327598	0.25497	N	0.030269	T	0.76948	0.4059	M	0.75615	2.305	0.09310	N	1	D;D	0.76494	0.999;0.998	D;P	0.67900	0.954;0.852	T	0.69855	-0.5032	10	0.52906	T	0.07	.	6.8927	0.24238	0.2158:0.0:0.7842:0.0	.	3934;3934	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	3934;3934;1568;1053	ENSP00000284548:R3934H;ENSP00000409493:R3934H;ENSP00000355668:R1568H;ENSP00000355670:R1053H	ENSP00000284548:R3934H	R	+	2	0	OBSCN	226560837	0.004000	0.15560	0.452000	0.26994	0.019000	0.09904	1.386000	0.34419	2.488000	0.83962	0.462000	0.41574	CGC		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
DIP2C	22982	broad.mit.edu	37	10	395316	395316	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr10:395316C>T	ENST00000280886.6	-	25	3151	c.3064G>A	c.(3064-3066)Ggc>Agc	p.G1022S		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1022						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGAAGGTGGCCCCTCTCCATC	0.652																																						uc001ifp.3																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(3064-3066)Ggc>Agc		Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.							111.0	81.0	91.0					10																	395316		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:395316C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3064G>A	10.37:g.395316C>T	ENSP00000280886:p.Gly1022Ser					DIP2C_uc009xhi.1_Missense_Mutation_p.G408S	p.G1022S	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	24	3154	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1022					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.3064G>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090504	0.76756	.	.	ENSG00000151240	ENST00000280886	T	0.24908	1.83	5.18	5.18	0.71444	AMP-dependent synthetase/ligase (1);	0.112104	0.64402	D	0.000012	T	0.38081	0.1027	M	0.61703	1.905	0.80722	D	1	P	0.34522	0.455	P	0.44811	0.461	T	0.08534	-1.0717	10	0.19590	T	0.45	-26.2524	18.7109	0.91656	0.0:1.0:0.0:0.0	.	1022	Q9Y2E4	DIP2C_HUMAN	S	1022	ENSP00000280886:G1022S	ENSP00000280886:G1022S	G	-	1	0	DIP2C	385316	1.000000	0.71417	0.739000	0.30968	0.162000	0.22319	7.811000	0.86092	2.409000	0.81822	0.563000	0.77884	GGC		0.652	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974	
CALY	50632	broad.mit.edu	37	10	135142374	135142374	+	Silent	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr10:135142374C>T	ENST00000252939.4	-	2	213	c.120G>A	c.(118-120)ccG>ccA	p.P40P	CALY_ENST00000368556.2_Silent_p.P40P|CALY_ENST00000467611.1_5'Flank|CALY_ENST00000368555.3_Silent_p.P40P|CALY_ENST00000368558.1_Silent_p.P40P|ZNF511_ENST00000368554.4_Intron	NM_015722.3	NP_056537.1	Q9NYX4	CALY_HUMAN	calcyon neuron-specific vesicular protein	40					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)|endocytosis (GO:0006897)|positive regulation of endocytosis (GO:0045807)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)	clathrin light chain binding (GO:0032051)			kidney(1)|lung(2)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)	Apomorphine(DB00714)|Clozapine(DB00363)|Trifluoperazine(DB00831)	CAGGGAGTGGCGGCTGGAGCT	0.637																																						uc001lmo.2																			0				kidney(1)|lung(2)	3						c.(118-120)ccG>ccA		Homo sapiens calcyon neuron-specific vesicular protein (CALY), mRNA.	Apomorphine(DB00714)|Clozapine(DB00363)|Flupenthixol(DB00875)|Trifluoperazine(DB00831)						18.0	17.0	17.0					10																	135142374		2160	4245	6405	SO:0001819	synonymous_variant	50632				clathrin coat assembly|dopamine receptor signaling pathway|endocytosis|positive regulation of endocytosis	cytoplasmic vesicle membrane|integral to plasma membrane	clathrin light chain binding|dopamine receptor binding	g.chr10:135142374C>T	AF225903	CCDS7678.1	10q26.3	2008-07-02	2008-01-16	2008-01-16	ENSG00000130643	ENSG00000130643			17938	protein-coding gene	gene with protein product		604647	"""dopamine receptor D1 interacting protein"""	DRD1IP		10698743, 17623072	Standard	NM_015722		Approved	CALCYON, NSG3	uc001lmo.2	Q9NYX4	OTTHUMG00000019310	ENST00000252939.4:c.120G>A	10.37:g.135142374C>T						ZNF511_uc021qbf.1_Intron	p.P40P	NM_015722	NP_056537	Q9NYX4	CALY_HUMAN		all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)	1	278	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	40					Q5VWX3|Q5VWY5|Q5VWY6	Silent	SNP	ENST00000252939.4	37	c.120G>A	CCDS7678.1																																																																																				0.637	CALY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051122.1	NM_015722	
ANO9	338440	broad.mit.edu	37	11	419726	419726	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:419726G>T	ENST00000332826.6	-	20	1874	c.1790C>A	c.(1789-1791)aCc>aAc	p.T597N	SIGIRR_ENST00000332725.3_5'Flank|SIGIRR_ENST00000382520.2_5'Flank|SIGIRR_ENST00000397632.3_5'Flank	NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	597					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CTGCAGCCAGGTCCCTGCACC	0.637																																						uc001lpi.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(1789-1791)aCc>aAc		Homo sapiens anoctamin 9 (ANO9), mRNA.							105.0	84.0	91.0					11																	419726		2202	4300	6502	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:419726G>T	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1790C>A	11.37:g.419726G>T	ENSP00000332788:p.Thr597Asn					SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Missense_Mutation_p.T290N|ANO9_uc010qvv.1_Missense_Mutation_p.T453N	p.T597N	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN			19	1875	-			597					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.1790C>A	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884182	0.51908	.	.	ENSG00000185101	ENST00000332826	T	0.63417	-0.04	4.41	3.48	0.39840	.	0.142257	0.46442	D	0.000289	T	0.73225	0.3560	M	0.73962	2.25	0.35320	D	0.784694	D;D	0.76494	0.997;0.999	P;D	0.68621	0.878;0.959	T	0.79902	-0.1607	10	0.87932	D	0	.	6.9952	0.24779	0.2662:0.0:0.7338:0.0	.	298;597	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	N	597	ENSP00000332788:T597N	ENSP00000332788:T597N	T	-	2	0	ANO9	409726	0.762000	0.28451	1.000000	0.80357	0.399000	0.30720	3.689000	0.54706	2.171000	0.68590	0.462000	0.41574	ACC		0.637	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302	
CHRNA10	57053	broad.mit.edu	37	11	3688571	3688571	+	Silent	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:3688571G>A	ENST00000250699.2	-	4	857	c.786C>T	c.(784-786)gcC>gcT	p.A262A	Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000534359.1_Missense_Mutation_p.P80L|CHRNA10_ENST00000493827.2_5'Flank	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	262					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	CGCCTGAGTCGGCAGGCAGGT	0.706																																					Melanoma(153;17 1869 2949 7120 36888)	uc001lyf.3																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(784-786)gcC>gcT		Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						20.0	21.0	20.0					11																	3688571		2185	4273	6458	SO:0001819	synonymous_variant	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3688571G>A	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.786C>T	11.37:g.3688571G>A						CHRNA10_uc010qxt.2_Silent_p.A56A|CHRNA10_uc010qxu.2_Silent_p.A56A	p.A262A	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	3	858	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	262						Silent	SNP	ENST00000250699.2	37	c.786C>T	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	G	4.257	0.046685	0.08243	.	.	ENSG00000129749	ENST00000534359	.	.	.	5.03	-10.1	0.00402	.	.	.	.	.	T	0.29491	0.0735	.	.	.	0.23003	N	0.998445	.	.	.	.	.	.	T	0.46541	-0.9184	5	0.87932	D	0	.	4.0217	0.09668	0.1232:0.2419:0.119:0.5159	.	.	.	.	L	80	.	ENSP00000437107:P80L	P	-	2	0	CHRNA10	3645147	0.000000	0.05858	0.437000	0.26809	0.405000	0.30901	-6.137000	0.00079	-2.103000	0.00844	-1.388000	0.01159	CCG		0.706	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2		
OR52E4	390081	broad.mit.edu	37	11	5906315	5906315	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:5906315T>A	ENST00000316987.2	+	1	815	c.793T>A	c.(793-795)Ttt>Att	p.F265I		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACACATCGTTTTGGCCAAAA	0.423																																						uc010qzs.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(793-795)Ttt>Att		Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.							187.0	175.0	179.0					11																	5906315		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5906315T>A	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.793T>A	11.37:g.5906315T>A	ENSP00000321426:p.Phe265Ile					TRIM5_uc001mbq.1_Intron	p.F265I	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	793	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	265					Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.793T>A	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.054247	0.55218	.	.	ENSG00000180974	ENST00000316987	T	0.39229	1.09	5.26	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000092	T	0.61590	0.2359	M	0.84082	2.675	0.09310	N	1	D	0.67145	0.996	D	0.74023	0.982	T	0.53774	-0.8391	10	0.87932	D	0	.	7.5241	0.27645	0.1411:0.0:0.1478:0.7111	.	265	Q8NGH9	O52E4_HUMAN	I	265	ENSP00000321426:F265I	ENSP00000321426:F265I	F	+	1	0	OR52E4	5862891	0.001000	0.12720	0.678000	0.29963	0.760000	0.43138	1.154000	0.31688	0.404000	0.25506	0.523000	0.50628	TTT		0.423	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165	
OR5L1	219437	broad.mit.edu	37	11	55579782	55579782	+	Silent	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:55579782C>T	ENST00000333973.2	+	1	929	c.840C>T	c.(838-840)gtC>gtT	p.V280V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCTACACAGTCGTGATTCCTA	0.453																																						uc001nhw.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(838-840)gtC>gtT		Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.							68.0	64.0	65.0					11																	55579782		2200	4296	6496	SO:0001819	synonymous_variant	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579782C>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.840C>T	11.37:g.55579782C>T							p.V280V	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			0	840	+		all_epithelial(135;0.208)	280					B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	c.840C>T	CCDS31509.1																																																																																				0.453	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738	
PACS1	55690	broad.mit.edu	37	11	65977846	65977846	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:65977846T>C	ENST00000320580.4	+	3	491	c.458T>C	c.(457-459)aTt>aCt	p.I153T		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	153					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCAAAAAGAATTCTTCGCTCC	0.502																																						uc001oha.2																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(457-459)aTt>aCt		Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.							130.0	115.0	120.0					11																	65977846		2201	4295	6496	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65977846T>C	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.458T>C	11.37:g.65977846T>C	ENSP00000316454:p.Ile153Thr					PACS1_uc001ogz.1_Missense_Mutation_p.I153T	p.I153T	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN			2	592	+			153					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.458T>C	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096959	0.37048	.	.	ENSG00000175115	ENST00000320580;ENST00000533756;ENST00000527380	T	0.21361	2.01	5.28	5.28	0.74379	.	0.161605	0.52532	D	0.000069	T	0.29976	0.0750	L	0.33189	0.99	0.80722	D	1	D;D	0.65815	0.983;0.995	P;D	0.63877	0.725;0.919	T	0.03423	-1.1038	10	0.12766	T	0.61	-12.7756	14.1853	0.65601	0.0:0.0:0.0:1.0	.	153;153	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	T	153;50;55	ENSP00000316454:I153T	ENSP00000316454:I153T	I	+	2	0	PACS1	65734422	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.821000	0.86641	2.001000	0.58596	0.477000	0.44152	ATT		0.502	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026	
KIAA1377	57562	broad.mit.edu	37	11	101818772	101818772	+	Silent	SNP	A	A	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:101818772A>G	ENST00000263468.8	+	4	675	c.405A>G	c.(403-405)aaA>aaG	p.K135K		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	135										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TTTCCCGAAAACCAGTTCCTC	0.343																																						uc001pgm.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(403-405)aaA>aaG		Homo sapiens KIAA1377 (KIAA1377), mRNA.							80.0	80.0	80.0					11																	101818772		2203	4299	6502	SO:0001819	synonymous_variant	57562						protein binding	g.chr11:101818772A>G	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.405A>G	11.37:g.101818772A>G						KIAA1377_uc001pgn.3_Silent_p.K91K|KIAA1377_uc009yxa.1_5'UTR	p.K135K	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	3	675	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	135					Q4G0U6	Silent	SNP	ENST00000263468.8	37	c.405A>G	CCDS31658.1																																																																																				0.343	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802	
OR6M1	390261	broad.mit.edu	37	11	123676994	123676994	+	Nonsense_Mutation	SNP	G	G	A	rs150135307	byFrequency	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:123676994G>A	ENST00000309154.2	-	1	101	c.64C>T	c.(64-66)Cga>Tga	p.R22*		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AGAGATATTCGAATCTCCAGG	0.458													G|||	2	0.000399361	0.0	0.0014	5008	,	,		19267	0.0		0.0	False		,,,				2504	0.001					uc010rzz.2																			0		p.R22Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29						c.(64-66)Cga>Tga		Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.		G	stop/ARG	1,4403	2.1+/-5.4	0,1,2201	97.0	85.0	89.0		64	1.5	0.0	11	dbSNP_134	89	1,8597	1.2+/-3.3	0,1,4298	yes	stop-gained	OR6M1	NM_001005325.1		0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154		22/314	123676994	2,13000	2202	4299	6501	SO:0001587	stop_gained	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676994G>A	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.64C>T	11.37:g.123676994G>A	ENSP00000311038:p.Arg22*						p.R22*	NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	0	64	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	22					B2RNK0|Q6IEW9|Q96R37	Nonsense_Mutation	SNP	ENST00000309154.2	37	c.64C>T	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.540410	0.27563	2.27E-4	1.16E-4	ENSG00000196099	ENST00000309154	.	.	.	3.57	1.55	0.23275	.	0.688322	0.11097	U	0.600087	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	5.88	0.18850	0.0:0.1911:0.4178:0.3911	.	.	.	.	X	22	.	ENSP00000311038:R22X	R	-	1	2	OR6M1	123182204	0.001000	0.12720	0.003000	0.11579	0.005000	0.04900	1.035000	0.30216	0.156000	0.19299	0.637000	0.83480	CGA		0.458	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325	
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr12:57674205_57674207delTGC	ENST00000347140.3	-	14	1626_1628	c.1236_1238delGCA	c.(1234-1239)cagcaa>caa	p.412_413QQ>Q	R3HDM2_ENST00000402412.1_In_Frame_Del_p.426_427QQ>Q|R3HDM2_ENST00000441731.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_ENST00000358907.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_ENST00000413953.2_In_Frame_Del_p.139_140QQ>Q|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000403821.2_In_Frame_Del_p.412_413QQ>Q			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	412	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576																																						uc009zpm.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1234-1239)cagcaa>caa		Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.																																				SO:0001651	inframe_deletion	22864					nucleus	nucleic acid binding	g.chr12:57674205_57674207delTGC	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1236_1238delGCA	12.37:g.57674214_57674216delTGC	ENSP00000317903:p.Gln413del					R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_uc001snr.2_In_Frame_Del_p.139_140QQ>Q|R3HDM2_uc001sns.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_uc001snt.2_In_Frame_Del_p.426_427QQ>Q	p.412_413QQ>Q	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN			11	1271_1273	-			412			Gln-rich.		Q2M1T9|Q3ZCT5	In_Frame_Del	DEL	ENST00000347140.3	37	c.1236_1238delGCA	CCDS8937.2																																																																																				0.576	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925	
PPP1R12A	4659	broad.mit.edu	37	12	80191152	80191152	+	Silent	SNP	T	T	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr12:80191152T>C	ENST00000450142.2	-	16	2381	c.2115A>G	c.(2113-2115)caA>caG	p.Q705Q	PPP1R12A_ENST00000546369.1_Silent_p.Q618Q|PPP1R12A_ENST00000261207.5_Silent_p.Q705Q|PPP1R12A_ENST00000437004.2_Silent_p.Q705Q|PPP1R12A_ENST00000550107.1_Silent_p.Q649Q	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	705	Interaction with ROCK2.				centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TCTCAGCTTCTTGAAGATCAG	0.318																																						uc001syz.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						c.(2113-2115)caA>caG		Homo sapiens protein phosphatase 1, regulatory subunit 12A (PPP1R12A), transcript variant 1, mRNA.							70.0	58.0	62.0					12																	80191152		1828	4089	5917	SO:0001819	synonymous_variant	4659					contractile fiber	protein binding|signal transducer activity	g.chr12:80191152T>C	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.2115A>G	12.37:g.80191152T>C						PPP1R12A_uc010suc.2_Silent_p.Q618Q|PPP1R12A_uc001sza.3_Silent_p.Q649Q|PPP1R12A_uc010sud.2_Silent_p.Q705Q|PPP1R12A_uc001szb.3_Silent_p.Q705Q|PPP1R12A_uc001szc.2_Silent_p.Q646Q	p.Q705Q	NM_002480	NP_001137358	O14974	MYPT1_HUMAN			15	2382	-			705			Interaction with ROCK2.		B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Silent	SNP	ENST00000450142.2	37	c.2115A>G	CCDS44947.1	.	.	.	.	.	.	.	.	.	.	T	8.940	0.965676	0.18583	.	.	ENSG00000058272	ENST00000553081	.	.	.	5.31	0.918	0.19386	.	.	.	.	.	T	0.57681	0.2070	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49523	-0.8931	4	.	.	.	.	9.8146	0.40844	0.0:0.3044:0.0:0.6956	.	.	.	.	R	297	.	.	K	-	2	0	PPP1R12A	78715283	0.998000	0.40836	0.997000	0.53966	0.996000	0.88848	0.434000	0.21494	-0.130000	0.11599	0.482000	0.46254	AAG		0.318	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480	
HCAR2	338442	broad.mit.edu	37	12	123187006	123187006	+	Silent	SNP	C	C	T	rs202067823	byFrequency	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr12:123187006C>T	ENST00000328880.5	-	1	884	c.825G>A	c.(823-825)gcG>gcA	p.A275A	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	275					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	TGATAAAGAACGCCAGGTCCA	0.542													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		23309	0.0		0.0	False		,,,				2504	0.0					uc001ucx.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(823-825)gcG>gcA		Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	Mepenzolate(DB04843)|Niacin(DB00627)																																			SO:0001819	synonymous_variant	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123187006C>T	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.825G>A	12.37:g.123187006C>T						HCAR1_uc001ucw.1_Intron	p.A275A	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN			0	899	-			275					A0PJL5|A7LGG3	Silent	SNP	ENST00000328880.5	37	c.825G>A	CCDS9235.1																																																																																				0.542	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551	
CLEC14A	161198	broad.mit.edu	37	14	38724093	38724093	+	Nonsense_Mutation	SNP	T	T	A	rs373659027		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:38724093T>A	ENST00000342213.2	-	1	1481	c.1135A>T	c.(1135-1137)Aag>Tag	p.K379*		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	379						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GAATTAAACTTGGAAATCACG	0.502																																						uc001wum.1																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1135-1137)Aag>Tag		Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.							72.0	61.0	65.0					14																	38724093		2203	4300	6503	SO:0001587	stop_gained	161198					integral to membrane	sugar binding	g.chr14:38724093T>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1135A>T	14.37:g.38724093T>A	ENSP00000353013:p.Lys379*						p.K379*	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	0	1482	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		379					Q695G9|Q6PWT6|Q8N5V5	Nonsense_Mutation	SNP	ENST00000342213.2	37	c.1135A>T	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	T	36	5.860102	0.97036	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	.	.	.	4.05	0.181	0.15073	.	1.189790	0.06398	N	0.718228	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.379	4.9365	0.13943	0.0:0.1093:0.4257:0.4649	.	.	.	.	X	379;144	.	ENSP00000353013:K379X	K	-	1	0	CLEC14A	37793844	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.186000	0.09670	0.030000	0.15379	-0.376000	0.06991	AAG		0.502	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060	
CLEC14A	161198	broad.mit.edu	37	14	38724649	38724649	+	Silent	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:38724649G>A	ENST00000342213.2	-	1	925	c.579C>T	c.(577-579)cgC>cgT	p.R193R		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	193						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R193R(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGAAGGGCGCGCGATAGCTCA	0.647																																						uc001wum.1																			1	Substitution - coding silent(1)	p.R193R(2)|p.R193C(1)	large_intestine(1)	breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(577-579)cgC>cgT		Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.							40.0	42.0	41.0					14																	38724649		2197	4287	6484	SO:0001819	synonymous_variant	161198					integral to membrane	sugar binding	g.chr14:38724649G>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.579C>T	14.37:g.38724649G>A							p.R193R	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	0	926	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		193					Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	c.579C>T	CCDS9667.1																																																																																				0.647	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060	
NIN	51199	broad.mit.edu	37	14	51227078	51227078	+	Splice_Site	SNP	C	C	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:51227078C>G	ENST00000382041.3	-	17	2087		c.e17-1		NIN_ENST00000530997.2_Splice_Site|NIN_ENST00000245441.5_Splice_Site|NIN_ENST00000382043.4_Splice_Site|NIN_ENST00000453196.1_Splice_Site|NIN_ENST00000389868.3_Splice_Site|NIN_ENST00000324330.9_Splice_Site	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)						centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AATGGCGCACCTGAAGGCACA	0.453			T	PDGFRB	MPD																																	uc001wyi.3				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.e17-1		Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.							45.0	47.0	46.0					14																	51227078		2132	4217	6349	SO:0001630	splice_region_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51227078C>G	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1897-1G>C	14.37:g.51227078C>G						NIN_uc001wyj.3_Splice_Site|NIN_uc001wym.2_Splice_Site_p.V633_splice|NIN_uc001wyk.3_Splice_Site_p.V633_splice|NIN_uc001wyo.3_Splice_Site_p.V633_splice	p.V633_splice	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN			17	2088	-	all_epithelial(31;0.00244)|Breast(41;0.127)		633					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Splice_Site	SNP	ENST00000382041.3	37	c.1897_splice	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277810	0.23307	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000530997;ENST00000382043;ENST00000389869;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000530853;ENST00000453196	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3216	0.94243	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NIN	50296828	1.000000	0.71417	0.997000	0.53966	0.034000	0.12701	5.167000	0.64972	2.818000	0.97014	0.591000	0.81541	.		0.453	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	Intron
SIX4	51804	broad.mit.edu	37	14	61180418	61180418	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:61180418G>C	ENST00000216513.4	-	3	2112	c.2053C>G	c.(2053-2055)Ctt>Gtt	p.L685V		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	685					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		ATTTCCCCAAGGGCAGCCTGA	0.473																																						uc001xfc.3																			0				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2053-2055)Ctt>Gtt		Homo sapiens SIX homeobox 4 (SIX4), mRNA.							96.0	85.0	88.0					14																	61180418		2203	4300	6503	SO:0001583	missense	51804					nucleus		g.chr14:61180418G>C	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.2053C>G	14.37:g.61180418G>C	ENSP00000216513:p.Leu685Val						p.L685V	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	2	2113	-			685					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.2053C>G	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976155	0.53720	.	.	ENSG00000100625	ENST00000216513;ENST00000554079	D;T	0.92099	-2.97;0.67	5.76	5.76	0.90799	.	0.113042	0.38436	N	0.001683	D	0.91503	0.7317	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	P	0.61070	0.883	D	0.92244	0.5803	10	0.87932	D	0	.	14.4921	0.67657	0.0701:0.0:0.9299:0.0	.	685	Q9UIU6	SIX4_HUMAN	V	685;358	ENSP00000216513:L685V;ENSP00000451537:L358V	ENSP00000216513:L685V	L	-	1	0	SIX4	60250171	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.055000	0.64282	2.882000	0.98803	0.655000	0.94253	CTT		0.473	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2		
YY1	7528	broad.mit.edu	37	14	100705804	100705804	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:100705804C>G	ENST00000262238.4	+	1	483	c.223C>G	c.(223-225)Cat>Gat	p.H75D	RP11-638I2.4_ENST00000554537.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	75	Interaction with the SMAD1/SMAD4 complex.|Poly-His.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				ccaccaccaccatcaccacca	0.726																																						uc001ygy.1																			0				cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11						c.(223-225)Cat>Gat		Homo sapiens YY1 transcription factor (YY1), mRNA.							16.0	11.0	13.0					14																	100705804		2118	4154	6272	SO:0001583	missense	7528				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr14:100705804C>G	BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"""INO80 complex subunits"", ""Zinc fingers, C2H2-type"""	12856	protein-coding gene	gene with protein product	"""INO80 complex subunit S"", ""Yin and Yang 1 protein"""	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.223C>G	14.37:g.100705804C>G	ENSP00000262238:p.His75Asp						p.H75D	NM_003403	NP_003394	P25490	TYY1_HUMAN			0	703	+		Melanoma(154;0.152)	75			Poly-His.		Q14935	Missense_Mutation	SNP	ENST00000262238.4	37	c.223C>G	CCDS9957.1	.	.	.	.	.	.	.	.	.	.	.	14.51	2.556455	0.45487	.	.	ENSG00000100811	ENST00000262238	T	0.11495	2.77	2.34	1.38	0.22167	.	0.000000	0.38897	U	0.001540	T	0.04092	0.0114	N	0.08118	0	0.23632	N	0.99725	B	0.20261	0.043	B	0.09377	0.004	T	0.45308	-0.9270	10	0.12103	T	0.63	.	7.2745	0.26275	0.2639:0.7361:0.0:0.0	.	75	P25490	TYY1_HUMAN	D	75	ENSP00000262238:H75D	ENSP00000262238:H75D	H	+	1	0	YY1	99775557	0.991000	0.36638	0.504000	0.27639	0.938000	0.57974	0.878000	0.28126	0.277000	0.22141	0.549000	0.68633	CAT		0.726	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318277.1	NM_003403	
BAHD1	22893	broad.mit.edu	37	15	40751318	40751318	+	Missense_Mutation	SNP	C	C	T	rs143744499	byFrequency	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:40751318C>T	ENST00000416165.1	+	2	726	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	BAHD1_ENST00000560846.1_Missense_Mutation_p.R219W|BAHD1_ENST00000561234.1_Missense_Mutation_p.R219W	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	219					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GAGCCAGGAGCGGGAGCTACC	0.642																																						uc001zlu.2																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(655-657)Cgg>Tgg		Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.		C	TRP/ARG	0,4406		0,0,2203	27.0	32.0	30.0		655	5.0	1.0	15	dbSNP_134	30	2,8598	2.2+/-6.3	0,2,4298	no	missense	BAHD1	NM_014952.3	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	219/781	40751318	2,13004	2203	4300	6503	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40751318C>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.655C>T	15.37:g.40751318C>T	ENSP00000396976:p.Arg219Trp					BAHD1_uc001zlt.2_Missense_Mutation_p.R219W|BAHD1_uc010bbp.1_Missense_Mutation_p.R219W|BAHD1_uc001zlv.2_Missense_Mutation_p.R219W	p.R219W	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	1	726	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	219					Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.655C>T	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503639	0.64298	0.0	2.33E-4	ENSG00000140320	ENST00000416165	T	0.24350	1.86	5.0	5.0	0.66597	.	0.171717	0.38005	N	0.001842	T	0.31071	0.0785	N	0.14661	0.345	0.42393	D	0.992533	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.68483	0.958;0.908;0.958	T	0.10965	-1.0607	10	0.87932	D	0	-19.1008	11.6758	0.51430	0.2942:0.7058:0.0:0.0	.	219;219;219	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	W	219	ENSP00000396976:R219W	ENSP00000396976:R219W	R	+	1	2	BAHD1	38538610	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.507000	0.45442	2.750000	0.94351	0.655000	0.94253	CGG		0.642	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952	
VPS13C	54832	broad.mit.edu	37	15	62300907	62300907	+	Silent	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:62300907C>T	ENST00000261517.5	-	14	1138	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	VPS13C_ENST00000249837.3_Silent_p.A312A|VPS13C_ENST00000395896.4_Silent_p.A355A|VPS13C_ENST00000395898.3_Silent_p.A312A	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCTATAAGGCGCATTCCTAA	0.289																																						uc002agz.3																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1063-1065)gcG>gcA		Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.							110.0	84.0	93.0					15																	62300907		2203	4299	6502	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62300907C>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1065G>A	15.37:g.62300907C>T						VPS13C_uc002aha.3_Silent_p.A312A|VPS13C_uc002ahb.2_Silent_p.A355A|VPS13C_uc002ahc.2_Silent_p.A312A	p.A355A	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			13	1156	-			355						Silent	SNP	ENST00000261517.5	37	c.1065G>A	CCDS32257.1																																																																																				0.289	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
THSD4	79875	broad.mit.edu	37	15	72037463	72037463	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:72037463T>C	ENST00000355327.3	+	12	2059	c.1925T>C	c.(1924-1926)tTc>tCc	p.F642S	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.F642S|THSD4_ENST00000357769.4_Missense_Mutation_p.F282S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	642					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TACCCTATTTTCCGCTGTGTG	0.547																																						uc002atb.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1924-1926)tTc>tCc		Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.							306.0	309.0	308.0					15																	72037463		2005	4171	6176	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72037463T>C	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1925T>C	15.37:g.72037463T>C	ENSP00000347484:p.Phe642Ser					THSD4_uc002ate.2_Missense_Mutation_p.F282S	p.F642S	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN			10	2004	+			642					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.1925T>C	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	T	19.05	3.751188	0.69533	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.60548	0.18;0.18;0.18	4.96	3.78	0.43462	.	.	.	.	.	T	0.64549	0.2608	L	0.43152	1.355	0.24354	N	0.994905	P;D	0.71674	0.846;0.998	P;D	0.68192	0.597;0.956	T	0.51553	-0.8691	9	0.35671	T	0.21	.	9.3764	0.38286	0.1591:0.0:0.0:0.8409	.	282;642	B4DR13;Q6ZMP0	.;THSD4_HUMAN	S	642;642;282	ENSP00000347484:F642S;ENSP00000261862:F642S;ENSP00000350413:F282S	ENSP00000261862:F642S	F	+	2	0	THSD4	69824517	1.000000	0.71417	0.898000	0.35279	0.994000	0.84299	5.667000	0.68067	2.082000	0.62665	0.402000	0.26972	TTC		0.547	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817	
LRRK1	79705	broad.mit.edu	37	15	101569415	101569415	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:101569415G>A	ENST00000388948.3	+	20	3300	c.2941G>A	c.(2941-2943)Gcc>Acc	p.A981T	LRRK1_ENST00000284395.5_Missense_Mutation_p.A978T	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTTTGAGATCGCCCTGCCCGT	0.592																																						uc002bwr.3																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(2941-2943)Gcc>Acc		Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.							38.0	39.0	39.0					15																	101569415		2106	4220	6326	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101569415G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2941G>A	15.37:g.101569415G>A	ENSP00000373600:p.Ala981Thr					LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	p.A981T	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		19	3260	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		981						Missense_Mutation	SNP	ENST00000388948.3	37	c.2941G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	34	5.373729	0.95923	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.77229	-1.06;-1.08	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.88448	0.6439	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.89781	0.3961	10	0.72032	D	0.01	.	18.5571	0.91089	0.0:0.0:1.0:0.0	.	981	Q38SD2	LRRK1_HUMAN	T	981;978	ENSP00000373600:A981T;ENSP00000284395:A978T	ENSP00000284395:A978T	A	+	1	0	LRRK1	99386938	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.152000	0.94680	2.391000	0.81399	0.655000	0.94253	GCC		0.592	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
DNM1P47	100216544	broad.mit.edu	37	15	102292762	102292762	+	RNA	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:102292762C>T	ENST00000561463.1	+	0	808									DNM1 pseudogene 47																		GCAGGCACAGCGGCGCGACGA	0.602																																						uc010usj.2																			0											c.(349-351)gCg>gTg		Homo sapiens cDNA clone IMAGE:40009338.																																						100216544							g.chr15:102292762C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292762C>T						DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank	p.A117V							3	409	+									Missense_Mutation	SNP	ENST00000561463.1	37	c.350C>T																																																																																					0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149	
SRL	6345	broad.mit.edu	37	16	4245578	4245578	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr16:4245578C>T	ENST00000399609.3	-	5	598	c.586G>A	c.(586-588)Gag>Aag	p.E196K	SRL_ENST00000537996.1_Missense_Mutation_p.E154K	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	655	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TTGCGGTTCTCGATGATGCCT	0.443																																						uc002cvz.4																			0		p.I195I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						c.(586-588)Gag>Aag		Homo sapiens sarcalumenin (SRL), mRNA.							135.0	132.0	133.0					16																	4245578		1916	4131	6047	SO:0001583	missense	6345					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	g.chr16:4245578C>T	AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.586G>A	16.37:g.4245578C>T	ENSP00000382518:p.Glu196Lys					SRL_uc002cvy.4_Non-coding_Transcript	p.E196K	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN			4	599	-			655			Acidic domain, probably binds calcium (By similarity).			Missense_Mutation	SNP	ENST00000399609.3	37	c.586G>A	CCDS42113.1	.	.	.	.	.	.	.	.	.	.	C	35	5.524224	0.96431	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	D;D	0.96427	-4.01;-4.01	5.1	5.1	0.69264	.	0.000000	0.85682	U	0.000000	D	0.97682	0.9240	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.98034	1.0378	10	0.66056	D	0.02	-24.1374	19.0659	0.93110	0.0:1.0:0.0:0.0	.	196	Q86TD4-2	.	K	196;654;154	ENSP00000382518:E196K;ENSP00000440350:E154K	ENSP00000333285:E654K	E	-	1	0	SRL	4185579	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.583000	0.82559	2.797000	0.96272	0.655000	0.94253	GAG		0.443	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152	
CETP	1071	broad.mit.edu	37	16	57016107	57016107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr16:57016107C>T	ENST00000566128.1	+	14	1351	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	CETP_ENST00000200676.3_Nonsense_Mutation_p.Q427*|CETP_ENST00000379780.2_Nonsense_Mutation_p.Q367*					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						GAGCTTCCTGCAGTCAATGAT	0.582																																						uc002eki.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						c.(1279-1281)Cag>Tag		Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.							149.0	117.0	128.0					16																	57016107		2198	4300	6498	SO:0001587	stop_gained	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:57016107C>T	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.1084C>T	16.37:g.57016107C>T	ENSP00000456276:p.Gln362*					CETP_uc002ekj.2_Nonsense_Mutation_p.Q367*	p.Q427*	NM_000078	NP_000069	P11597	CETP_HUMAN			13	1336	+			427						Nonsense_Mutation	SNP	ENST00000566128.1	37	c.1279C>T		.	.	.	.	.	.	.	.	.	.	c	22.3	4.272347	0.80580	.	.	ENSG00000087237	ENST00000200676;ENST00000379780	.	.	.	3.42	-6.84	0.01687	.	0.873277	0.09848	U	0.747936	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0323	1.8578	0.03182	0.1718:0.4253:0.1088:0.294	.	.	.	.	X	427;367	.	ENSP00000200676:Q427X	Q	+	1	0	CETP	55573608	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	-1.132000	0.03235	-1.476000	0.01874	-0.389000	0.06534	CAG		0.582	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078	
GALNS	2588	broad.mit.edu	37	16	88891241	88891241	+	Silent	SNP	C	C	T	rs398123431		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr16:88891241C>T	ENST00000268695.5	-	11	1264	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	GALNS_ENST00000542788.1_Silent_p.A317A	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	392			A -> V (in MPS4A). {ECO:0000269|PubMed:16287098, ECO:0000269|PubMed:24726177}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		CGAGGGTGGCCGCCATCAGCG	0.627																																					GBM(129;1929 2344 25209 33204)	uc010cid.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22						c.(1192-1194)gcG>gcA		Homo sapiens galactosamine (N-acetyl)-6-sulfate sulfatase (GALNS), mRNA.	Hyaluronidase(DB00070)						106.0	85.0	92.0					16																	88891241		2198	4300	6498	SO:0001819	synonymous_variant	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88891241C>T	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.1176G>A	16.37:g.88891241C>T						GALNS_uc002fly.4_Silent_p.A392A|GALNS_uc002flz.4_Silent_p.A75A	p.A398A			P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	11	1435	-			392		H -> D (in MPS4A).			Q86VK3	Silent	SNP	ENST00000268695.5	37	c.1194G>A	CCDS10970.1																																																																																				0.627	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1		
DNAH2	146754	broad.mit.edu	37	17	7644166	7644166	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:7644166delC	ENST00000572933.1	+	11	3005	c.1545delC	c.(1543-1545)ctcfs	p.L515fs	DNAH2_ENST00000082259.3_Frame_Shift_Del_p.L597fs|DNAH2_ENST00000570791.1_Frame_Shift_Del_p.L597fs|DNAH2_ENST00000389173.2_Frame_Shift_Del_p.L515fs			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	515	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGGTGGATCTCTACATGCTGT	0.587																																						uc002giu.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(1543-1545)ctcfs		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.							126.0	116.0	120.0					17																	7644166		2203	4300	6503	SO:0001589	frameshift_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7644166delC	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1545delC	17.37:g.7644166delC	ENSP00000458355:p.Leu515fs					DNAH2_uc002git.3_Frame_Shift_Del_p.L597fs|DNAH2_uc010vuk.2_Frame_Shift_Del_p.L515fs	p.L515fs	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			9	1559	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	515			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Frame_Shift_Del	DEL	ENST00000572933.1	37	c.1545delC	CCDS32551.1																																																																																				0.587	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
KRT16P2	400578	broad.mit.edu	37	17	16734509	16734509	+	RNA	SNP	G	G	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:16734509G>T	ENST00000579062.1	-	0	563									keratin 16 pseudogene 2																		CGTACTGGTTGCGCATCTCAT	0.607																																						uc010vwr.1																			0											c.(508-510)cgC>cgA		Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA.																																						400578							g.chr17:16734509G>T			17p11.2	2010-02-25			ENSG00000227300	ENSG00000227300			37807	pseudogene	pseudogene							Standard	NR_029392		Approved		uc010vwr.1		OTTHUMG00000059177		17.37:g.16734509G>T							p.R170R							3	952	-									Silent	SNP	ENST00000579062.1	37	c.510C>A																																																																																					0.607	KRT16P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444288.2	NR_029392	
CRLF3	51379	broad.mit.edu	37	17	29119557	29119557	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:29119557C>G	ENST00000324238.6	-	6	984	c.860G>C	c.(859-861)aGc>aCc	p.S287T	CRLF3_ENST00000544695.1_Missense_Mutation_p.S171T|CRLF3_ENST00000577725.1_Intron|CTD-2349P21.9_ENST00000580085.1_lincRNA	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	287					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TCTTCGACTGCTCAGACTGTA	0.423																																					Pancreas(30;346 881 29244 33464 41299)	uc002hfr.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(859-861)aGc>aCc		Homo sapiens cytokine receptor-like factor 3 (CRLF3), mRNA.							145.0	140.0	141.0					17																	29119557		2203	4300	6503	SO:0001583	missense	51379				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm		g.chr17:29119557C>G	AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.860G>C	17.37:g.29119557C>G	ENSP00000318804:p.Ser287Thr					CRLF3_uc010wbr.2_Missense_Mutation_p.S171T	p.S287T	NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN			5	969	-		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)	287					A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP	ENST00000324238.6	37	c.860G>C	CCDS32607.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042325	0.93685	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	T;T	0.27890	1.64;1.64	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59726	-0.7400	10	0.87932	D	0	-15.7903	19.0242	0.92926	0.0:1.0:0.0:0.0	.	287	Q8IUI8	CRLF3_HUMAN	T	287;171	ENSP00000318804:S287T;ENSP00000444188:S171T	ENSP00000318804:S287T	S	-	2	0	CRLF3	26143683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.420000	0.80191	2.468000	0.83385	0.591000	0.81541	AGC		0.423	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1		
TMEM106A	113277	broad.mit.edu	37	17	41365143	41365143	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:41365143G>A	ENST00000331615.3	+	3	320	c.83G>A	c.(82-84)aGc>aAc	p.S28N	TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000588659.1_Missense_Mutation_p.S28N|TMEM106A_ENST00000541594.1_Intron|TMEM106A_ENST00000536052.1_Missense_Mutation_p.S28N	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	28						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		GCCATTGGCAGCAAGGCTGTC	0.547																																						uc002idn.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(82-84)aGc>aAc		Homo sapiens transmembrane protein 106A (TMEM106A), mRNA.							102.0	90.0	94.0					17																	41365143		2203	4296	6499	SO:0001583	missense	113277					integral to membrane		g.chr17:41365143G>A	AK056132	CCDS11462.1, CCDS74073.1	17q21.31	2012-01-23			ENSG00000184988	ENSG00000184988			28288	protein-coding gene	gene with protein product							Standard	XM_006721658		Approved	MGC20235	uc002idn.1	Q96A25		ENST00000331615.3:c.83G>A	17.37:g.41365143G>A	ENSP00000330774:p.Ser28Asn					TMEM106A_uc010why.1_Intron|TMEM106A_uc010cze.1_Missense_Mutation_p.S28N|TMEM106A_uc010whz.1_Missense_Mutation_p.S28N	p.S28N	NM_145041	NP_659478	Q96A25	T106A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	2	320	+		Breast(137;0.0164)	28					A8K2X2|B7Z698	Missense_Mutation	SNP	ENST00000331615.3	37	c.83G>A	CCDS11462.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358245	0.24598	.	.	ENSG00000184988	ENST00000331615;ENST00000536052	T;T	0.32272	1.88;1.46	4.71	0.304	0.15796	.	0.932866	0.09226	N	0.831160	T	0.27098	0.0664	M	0.63428	1.95	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.15052	0.012;0.012	T	0.32481	-0.9905	10	0.38643	T	0.18	-12.4703	3.6935	0.08355	0.3651:0.0:0.4568:0.1781	.	28;28	B7Z779;Q96A25	.;T106A_HUMAN	N	28	ENSP00000330774:S28N;ENSP00000439835:S28N	ENSP00000330774:S28N	S	+	2	0	TMEM106A	38720669	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.195000	0.17155	-0.058000	0.13177	0.591000	0.81541	AGC		0.547	TMEM106A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453470.2	NM_145041	
CSH2	1443	broad.mit.edu	37	17	61949661	61949661	+	Missense_Mutation	SNP	C	C	T	rs201103017		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:61949661C>T	ENST00000392886.2	-	5	630	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	CSH2_ENST00000560142.1_Missense_Mutation_p.R103Q|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Missense_Mutation_p.R65Q	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	160						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						CTGCCCAGTCCGGCGGCTGCC	0.547																																						uc002jch.3																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(478-480)cGg>cAg		Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.		C	GLN/ARG,,GLN/ARG	0,4406		0,0,2203	94.0	94.0	94.0		479,,194	3.0	0.7	17		94	1,8595		0,1,4297	no	missense,utr-3,missense	CSH2	NM_020991.3,NM_022644.3,NM_022645.2	43,,43	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign,,benign	160/218,,65/123	61949661	1,13001	2203	4298	6501	SO:0001583	missense	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61949661C>T	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.479G>A	17.37:g.61949661C>T	ENSP00000376623:p.Arg160Gln					CSH2_uc002jci.3_3'UTR|CSH2_uc002jcg.3_Missense_Mutation_p.R65Q	p.R160Q	NM_020991	NP_066271	P01243	CSH_HUMAN			4	594	-			160					P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000392886.2	37	c.479G>A	CCDS42369.1	.	.	.	.	.	.	.	.	.	.	N	7.943	0.743116	0.15642	0.0	1.16E-4	ENSG00000213218	ENST00000345366;ENST00000392886	D;D	0.88818	-2.43;-2.3	3.97	3.0	0.34707	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.044430	0.07596	N	0.922891	D	0.83459	0.5259	L	0.33339	1.005	0.32595	N	0.526729	B;B;B	0.24533	0.001;0.001;0.105	B;B;B	0.20577	0.0;0.0;0.03	T	0.76451	-0.2954	10	0.34782	T	0.22	.	10.5523	0.45097	0.0:0.9019:0.0:0.0981	.	160;160;65	P01243;A8K6C2;B1A4H9	CSH_HUMAN;.;.	Q	65;160	ENSP00000308396:R65Q;ENSP00000376623:R160Q	ENSP00000308396:R65Q	R	-	2	0	CSH2	59303393	0.004000	0.15560	0.741000	0.31004	0.005000	0.04900	0.357000	0.20199	0.870000	0.35726	-0.448000	0.05591	CGG		0.547	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991	
TXNDC2	84203	broad.mit.edu	37	18	9887074	9887074	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr18:9887074G>A	ENST00000306084.6	+	2	797	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.5_Missense_Mutation_p.E133K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	200	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAGAAGCCATCCA	0.577																																						uc002koi.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(598-600)Gaa>Aaa		Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.							152.0	154.0	153.0					18																	9887074		2203	4300	6503	SO:0001583	missense	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887074G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.598G>A	18.37:g.9887074G>A	ENSP00000304908:p.Glu200Lys					TXNDC2_uc002koh.4_Missense_Mutation_p.E133K|TXNDC2_uc021ugx.1_Missense_Mutation_p.E133K	p.E200K	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN			1	1047	+			200			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.598G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	g	1.272	-0.612710	0.03690	.	.	ENSG00000168454	ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16457	2.34;2.34	3.48	-6.08	0.02151	.	1.613580	0.03995	N	0.295530	T	0.05456	0.0144	N	0.02539	-0.55	0.09310	N	1	B	0.18013	0.025	B	0.11329	0.006	T	0.34204	-0.9838	9	.	.	.	-1.8327	6.0796	0.19935	0.4735:0.3503:0.1761:0.0	.	200	Q86VQ3	TXND2_HUMAN	K	133;200;200	ENSP00000350419:E133K;ENSP00000304908:E200K	.	E	+	1	0	TXNDC2	9877074	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.583000	0.00904	-0.859000	0.04105	-0.300000	0.09419	GAA		0.577	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1		
PDE4A	5141	broad.mit.edu	37	19	10561526	10561526	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr19:10561526delC	ENST00000352831.6	+	6	802	c.692delC	c.(691-693)gccfs	p.A231fs	PDE4A_ENST00000592685.1_Frame_Shift_Del_p.A209fs|PDE4A_ENST00000380702.2_Frame_Shift_Del_p.A209fs|PDE4A_ENST00000440014.2_Frame_Shift_Del_p.A170fs|PDE4A_ENST00000344979.3_5'Flank|PDE4A_ENST00000293683.5_Frame_Shift_Del_p.A205fs	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	231					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CAGCAGTTGGCCCGGGAGACT	0.612																																						uc002moj.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(691-693)gccfs		Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						43.0	42.0	42.0					19																	10561526		1568	3582	5150	SO:0001589	frameshift_variant	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10561526delC		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.692delC	19.37:g.10561526delC	ENSP00000270474:p.Ala231fs					PDE4A_uc021uow.1_Frame_Shift_Del_p.A209fs|PDE4A_uc002mok.2_Frame_Shift_Del_p.A205fs|PDE4A_uc002mol.2_Frame_Shift_Del_p.A170fs|PDE4A_uc002mom.2_5'Flank	p.A231fs	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		5	800	+			231					O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Frame_Shift_Del	DEL	ENST00000352831.6	37	c.692delC	CCDS45961.1																																																																																				0.612	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1		
FAM129C	199786	broad.mit.edu	37	19	17653014	17653014	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr19:17653014A>G	ENST00000335393.4	+	11	1471	c.1333A>G	c.(1333-1335)Agc>Ggc	p.S445G	FAM129C_ENST00000332386.5_Missense_Mutation_p.S445G|FAM129C_ENST00000601861.1_Missense_Mutation_p.S414G|FAM129C_ENST00000300971.2_Missense_Mutation_p.S445G|FAM129C_ENST00000352727.3_Missense_Mutation_p.S445G|FAM129C_ENST00000449408.2_Missense_Mutation_p.S171G|FAM129C_ENST00000595684.1_Missense_Mutation_p.S445G|FAM129C_ENST00000599124.1_Missense_Mutation_p.S414G|FAM129C_ENST00000600871.1_Missense_Mutation_p.S391G|FAM129C_ENST00000599164.1_Missense_Mutation_p.S414G	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	445										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GGCCGAGCGGAGCCGGGGGCG	0.612																																						uc021uqj.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						c.(1333-1335)Agc>Ggc		Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.							108.0	122.0	117.0					19																	17653014		2203	4300	6503	SO:0001583	missense	199786							g.chr19:17653014A>G	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.1333A>G	19.37:g.17653014A>G	ENSP00000335040:p.Ser445Gly					FAM129C_uc021uqi.1_Missense_Mutation_p.S445G|FAM129C_uc002ngy.4_Missense_Mutation_p.S171G|FAM129C_uc010xpu.2_Missense_Mutation_p.S171G|FAM129C_uc002ngz.4_Non-coding_Transcript|FAM129C_uc010eaw.3_Missense_Mutation_p.S171G|FAM129C_uc002nhb.3_Missense_Mutation_p.S44G	p.S445G	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN			10	1471	+			445					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	c.1333A>G	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	a	0.094	-1.162965	0.01673	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000449408;ENST00000435646	T;T;T;T;T	0.23754	2.23;2.26;1.92;1.93;1.89	4.77	-0.314	0.12750	.	0.937721	0.08954	N	0.869728	T	0.20292	0.0488	M	0.63428	1.95	0.09310	N	1	B;B;B;B;P;B	0.41673	0.004;0.058;0.004;0.004;0.759;0.004	B;B;B;B;B;B	0.39503	0.009;0.013;0.009;0.009;0.301;0.009	T	0.17715	-1.0360	10	0.27785	T	0.31	-4.4035	0.207	0.00152	0.3818:0.1593:0.226:0.233	.	391;445;445;445;171;445	E7ENP6;Q86XR2;Q86XR2-3;Q86XR2-4;B4DNU3;Q86XR2-2	.;NIBL2_HUMAN;.;.;.;.	G	445;445;445;445;171;391	ENSP00000335040:S445G;ENSP00000333447:S445G;ENSP00000341067:S445G;ENSP00000300971:S445G;ENSP00000394929:S171G	ENSP00000300971:S445G	S	+	1	0	FAM129C	17514014	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.489000	0.22387	-0.074000	0.12820	0.478000	0.44815	AGC		0.612	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544	
ZNF208	7757	broad.mit.edu	37	19	22155056	22155056	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr19:22155056C>T	ENST00000397126.4	-	4	2928	c.2780G>A	c.(2779-2781)aGc>aAc	p.S927N	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	927					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGACAACCAGCTGAAGGCTTT	0.393																																						uc021urr.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2779-2781)aGc>aAc		Homo sapiens zinc finger protein 208 (ZNF208), mRNA.							52.0	54.0	53.0					19																	22155056		2055	4214	6269	SO:0001583	missense	7757							g.chr19:22155056C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2780G>A	19.37:g.22155056C>T	ENSP00000380315:p.Ser927Asn					ZNF208_uc002nqo.1_Intron	p.S927N	NM_007153	NP_009084					3	2929	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2780G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	0.411	-0.913149	0.02415	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07567	3.18	3.07	-6.14	0.02111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.40646	-0.9552	8	0.24483	T	0.36	.	1.8086	0.03086	0.2525:0.3465:0.2576:0.1433	.	827	O43345	ZN208_HUMAN	N	927;827	ENSP00000380315:S927N	ENSP00000380315:S927N	S	-	2	0	ZNF208	21946896	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.124000	0.00044	-2.220000	0.00728	-1.660000	0.00751	AGC		0.393	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF180	7733	broad.mit.edu	37	19	44981361	44981361	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr19:44981361A>C	ENST00000221327.4	-	5	1618	c.1337T>G	c.(1336-1338)tTc>tGc	p.F446C	ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000592529.1_Missense_Mutation_p.F419C|ZNF180_ENST00000391956.4_Missense_Mutation_p.F421C|AC069278.4_ENST00000591684.1_lincRNA	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GCTCTGCCTGAATGACTTTCC	0.393																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	uc002ozf.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(1336-1338)tTc>tGc		Homo sapiens zinc finger protein 180 (ZNF180), mRNA.							76.0	78.0	77.0					19																	44981361		2203	4300	6503	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981361A>C	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1337T>G	19.37:g.44981361A>C	ENSP00000221327:p.Phe446Cys					ZNF180_uc002ozh.4_Missense_Mutation_p.F103C|ZNF180_uc002ozi.4_Missense_Mutation_p.F419C|ZNF180_uc002ozg.4_Missense_Mutation_p.F445C|ZNF180_uc010ejm.3_Missense_Mutation_p.F421C	p.F446C	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN			4	1619	-		Prostate(69;0.0435)	446					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.1337T>G	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.626328	0.66901	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.45668	0.89;0.89	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000478	T	0.71039	0.3293	M	0.90922	3.16	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	T	0.78720	-0.2094	10	0.87932	D	0	-9.9259	14.0492	0.64725	1.0:0.0:0.0:0.0	.	421;445;446	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	C	446;421	ENSP00000221327:F446C;ENSP00000375818:F421C	ENSP00000221327:F446C	F	-	2	0	ZNF180	49673201	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.618000	0.61211	1.950000	0.56595	0.377000	0.23210	TTC		0.393	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256	
SH3RF3	344558	broad.mit.edu	37	2	110015136	110015136	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr2:110015136G>A	ENST00000309415.6	+	4	1036	c.1036G>A	c.(1036-1038)Ggc>Agc	p.G346S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	346							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CTCTGACTCCGGCGCTGTGGC	0.602																																						uc010ywt.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(1036-1038)Ggc>Agc		Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.							38.0	40.0	40.0					2																	110015136		2203	4300	6503	SO:0001583	missense	344558						zinc ion binding	g.chr2:110015136G>A	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1036G>A	2.37:g.110015136G>A	ENSP00000309186:p.Gly346Ser						p.G346S	NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN			3	1036	+			346					A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37	c.1036G>A		.	.	.	.	.	.	.	.	.	.	G	5.165	0.215990	0.09810	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.02916	4.11;4.11	4.4	-0.609	0.11608	.	0.741625	0.12361	N	0.475621	T	0.01124	0.0037	.	.	.	0.09310	N	1	B	0.18166	0.026	B	0.08055	0.003	T	0.47275	-0.9130	9	0.02654	T	1	-9.6524	5.7208	0.17986	0.4943:0.1395:0.3662:0.0	.	346	Q8TEJ3	SH3R3_HUMAN	S	346	ENSP00000414997:G346S;ENSP00000309186:G346S	ENSP00000309186:G346S	G	+	1	0	SH3RF3	109381568	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	0.417000	0.21214	-0.084000	0.12595	0.561000	0.74099	GGC		0.602	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289	
TMEM163	81615	broad.mit.edu	37	2	135470799	135470799	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr2:135470799A>G	ENST00000281924.6	-	2	357	c.293T>C	c.(292-294)gTc>gCc	p.V98A		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	98						cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		GGCCAGGGTGACAATGATGGA	0.517																																						uc002ttx.3																			0				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16						c.(292-294)gTc>gCc		Homo sapiens transmembrane protein 163 (TMEM163), mRNA.							210.0	172.0	185.0					2																	135470799		2203	4300	6503	SO:0001583	missense	81615					integral to membrane		g.chr2:135470799A>G		CCDS2172.1	2q21.3	2008-02-05			ENSG00000152128	ENSG00000152128			25380	protein-coding gene	gene with protein product						17623043	Standard	NM_030923		Approved	DKFZP566N034, SV31	uc002ttx.3	Q8TC26	OTTHUMG00000131713	ENST00000281924.6:c.293T>C	2.37:g.135470799A>G	ENSP00000281924:p.Val98Ala					TMEM163_uc002tty.3_Non-coding_Transcript	p.V98A	NM_030923	NP_112185	Q8TC26	TM163_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.154)	1	359	-			98					Q53QM3|Q53SV7|Q69YH3|Q9UFG3	Missense_Mutation	SNP	ENST00000281924.6	37	c.293T>C	CCDS2172.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.256163	0.59321	.	.	ENSG00000152128	ENST00000281924;ENST00000537539	T	0.63096	-0.02	5.11	5.11	0.69529	.	0.127711	0.52532	D	0.000075	T	0.65502	0.2697	L	0.55481	1.735	0.47584	D	0.999466	P	0.50443	0.935	P	0.50708	0.648	T	0.62661	-0.6807	10	0.24483	T	0.36	.	15.0483	0.71844	1.0:0.0:0.0:0.0	.	98	Q8TC26	TM163_HUMAN	A	98;37	ENSP00000281924:V98A	ENSP00000281924:V98A	V	-	2	0	TMEM163	135187269	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.949000	0.93012	2.145000	0.66743	0.482000	0.46254	GTC		0.517	TMEM163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254631.2	NM_030923	
TMC2	117532	broad.mit.edu	37	20	2616589	2616589	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr20:2616589T>A	ENST00000358864.1	+	18	2339	c.2324T>A	c.(2323-2325)cTg>cAg	p.L775Q		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	775					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTTACTACCTGAACTCAGTT	0.502																																						uc002wgf.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2323-2325)cTg>cAg		Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.							115.0	97.0	103.0					20																	2616589		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2616589T>A	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2324T>A	20.37:g.2616589T>A	ENSP00000351732:p.Leu775Gln					TMC2_uc002wgg.1_Missense_Mutation_p.L759Q	p.L775Q	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			17	2339	+			775					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.2324T>A	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946021	0.73672	.	.	ENSG00000149488	ENST00000358864	T	0.70399	-0.48	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	D	0.84206	0.5421	M	0.84082	2.675	0.46901	D	0.999242	D	0.89917	1.0	D	0.83275	0.996	D	0.86428	0.1759	10	0.87932	D	0	-10.3913	12.3508	0.55146	0.0:0.0:0.0:1.0	.	775	Q8TDI7	TMC2_HUMAN	Q	775	ENSP00000351732:L775Q	ENSP00000351732:L775Q	L	+	2	0	TMC2	2564589	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.636000	0.54317	2.232000	0.73038	0.533000	0.62120	CTG		0.502	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2		
PLTP	5360	broad.mit.edu	37	20	44528299	44528299	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr20:44528299T>C	ENST00000477313.1	-	13	1838	c.1244A>G	c.(1243-1245)aAg>aGg	p.K415R	PLTP_ENST00000420868.2_Missense_Mutation_p.K320R|PLTP_ENST00000372431.3_Missense_Mutation_p.K415R|PLTP_ENST00000354050.4_Missense_Mutation_p.K363R|PLTP_ENST00000542937.1_Missense_Mutation_p.K435R|PLTP_ENST00000372420.1_Missense_Mutation_p.K327R			P55058	PLTP_HUMAN	phospholipid transfer protein	415					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CAGCATGGTCTTCAGAGGGGC	0.602																																						uc002xqm.2																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21						c.(1303-1305)aAg>aGg		Homo sapiens phospholipid transfer protein (PLTP), transcript variant 4, mRNA.							72.0	65.0	67.0					20																	44528299		2203	4300	6503	SO:0001583	missense	5360				cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	g.chr20:44528299T>C	L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.1244A>G	20.37:g.44528299T>C	ENSP00000417138:p.Lys415Arg					PLTP_uc002xql.2_Missense_Mutation_p.K327R|PLTP_uc010zxj.2_Missense_Mutation_p.K320R|PLTP_uc002xqq.2_Missense_Mutation_p.K384R|PLTP_uc002xqn.2_Missense_Mutation_p.K415R|PLTP_uc002xqo.2_Missense_Mutation_p.K363R	p.K435R	NM_001242921	NP_001229850	P55058	PLTP_HUMAN			12	1839	-		Myeloproliferative disorder(115;0.0122)	415					A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	ENST00000477313.1	37	c.1304A>G	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006267	0.74932	.	.	ENSG00000100979	ENST00000372420;ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	T;T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96;2.96	4.7	4.7	0.59300	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.85682	D	0.000000	T	0.29423	0.0733	M	0.68317	2.08	0.58432	D	0.999996	D;D;D;D;D;D	0.71674	0.998;0.994;0.994;0.957;0.994;0.994	D;D;D;P;D;D	0.67725	0.953;0.938;0.938;0.471;0.938;0.938	T	0.01972	-1.1237	10	0.56958	D	0.05	-34.0673	14.3327	0.66569	0.0:0.0:0.0:1.0	.	320;327;415;363;415;435	E7EV16;B4DDD5;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;.;PLTP_HUMAN;.	R	327;415;363;415;435;320	ENSP00000361497:K327R;ENSP00000361508:K415R;ENSP00000335290:K363R;ENSP00000417138:K415R;ENSP00000440296:K435R;ENSP00000411671:K320R	ENSP00000335290:K363R	K	-	2	0	PLTP	43961706	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	6.824000	0.75288	1.980000	0.57719	0.445000	0.29226	AAG		0.602	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227	
ZGPAT	84619	broad.mit.edu	37	20	62367145	62367145	+	Silent	SNP	G	G	A	rs571008731		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr20:62367145G>A	ENST00000328969.5	+	7	1597	c.1470G>A	c.(1468-1470)gcG>gcA	p.A490A	ZGPAT_ENST00000357119.4_Silent_p.A461A|RP4-583P15.14_ENST00000467211.1_5'Flank|ZGPAT_ENST00000355969.6_Silent_p.A470A|ZGPAT_ENST00000448100.2_Silent_p.A470A|LIME1_ENST00000309546.3_5'Flank|ZGPAT_ENST00000369967.3_Silent_p.A470A|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.R376H	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	490					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					ATAGCGTGGCGTCAGCCCAGC	0.692																																						uc002ygk.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14						c.(1468-1470)gcG>gcA		Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.							11.0	12.0	12.0					20																	62367145		2155	4215	6370	SO:0001819	synonymous_variant	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62367145G>A	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.1470G>A	20.37:g.62367145G>A						ZGPAT_uc002ygi.2_Silent_p.A470A|ZGPAT_uc010gkk.2_Silent_p.A47A|ZGPAT_uc010gkl.2_Silent_p.A470A|ZGPAT_uc002ygm.3_Silent_p.A461A|ZGPAT_uc002ygj.2_Silent_p.A470A|ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_5'UTR|ZGPAT_uc002ygp.4_5'UTR	p.A490A	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN			6	1659	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		490					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Silent	SNP	ENST00000328969.5	37	c.1470G>A	CCDS13534.1																																																																																				0.692	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484	
UMODL1	89766	broad.mit.edu	37	21	43523936	43523936	+	Intron	SNP	G	G	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr21:43523936G>C	ENST00000408910.2	+	9	1299				UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000400424.2_Intron|C21orf128_ENST00000329015.2_Missense_Mutation_p.F99L|UMODL1_ENST00000408989.2_Intron	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1						adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TAATGGTCGTGAAGACGTTGA	0.532																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zak.2																			0				lung(4)	4						c.(295-297)ttC>ttG		Homo sapiens chromosome 21 open reading frame 128 (C21orf128), non-coding RNA.							210.0	127.0	155.0					21																	43523936		2203	4300	6503	SO:0001627	intron_variant	150147							g.chr21:43523936G>C		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1300-42G>C	21.37:g.43523936G>C						UMODL1_uc002zad.1_Intron|UMODL1_uc002zae.1_Intron|UMODL1_uc002zaf.1_Intron|UMODL1_uc002zag.1_Intron|UMODL1_uc010gow.1_Intron|UMODL1_uc002zai.1_Intron|UMODL1_uc010gox.1_Intron|UMODL1_uc010goy.1_Intron|UMODL1_uc002zaj.1_Intron|UMODL1_uc010goz.1_Intron	p.F99L							1	449	-								C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.297C>G	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	g	4.787	0.146398	0.09134	.	.	ENSG00000184385	ENST00000329015	T	0.52057	0.68	2.69	-0.218	0.13142	.	.	.	.	.	T	0.31827	0.0809	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.30179	-0.9987	8	0.87932	D	0	.	3.5918	0.07991	0.1308:0.0:0.4324:0.4368	.	99	Q8N2C9	CU128_HUMAN	L	99	ENSP00000328495:F99L	ENSP00000328495:F99L	F	-	3	2	C21orf128	42397005	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.328000	0.07945	-0.073000	0.12842	-0.121000	0.15023	TTC		0.532	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		
UMODL1	89766	broad.mit.edu	37	21	43524008	43524008	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr21:43524008G>C	ENST00000408910.2	+	9	1330	c.1330G>C	c.(1330-1332)Gac>Cac	p.D444H	UMODL1_ENST00000400427.1_Missense_Mutation_p.D372H|UMODL1_ENST00000400424.2_Missense_Mutation_p.D372H|C21orf128_ENST00000329015.2_Silent_p.V75V|UMODL1_ENST00000408989.2_Missense_Mutation_p.D444H	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	444	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGTGGTGTCTGACTTGTACCG	0.567																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zag.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1330-1332)Gac>Cac		Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.							225.0	170.0	189.0					21																	43524008		2203	4300	6503	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43524008G>C		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1330G>C	21.37:g.43524008G>C	ENSP00000386147:p.Asp444His					UMODL1_uc002zad.1_Missense_Mutation_p.D372H|UMODL1_uc002zae.1_Missense_Mutation_p.D372H|UMODL1_uc002zaf.1_Missense_Mutation_p.D444H|UMODL1_uc010gow.1_Missense_Mutation_p.D236H|UMODL1_uc002zai.1_Missense_Mutation_p.D95H|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.D95H|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.D189H|C21orf128_uc002zak.2_Silent_p.V75V	p.D444H	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN			8	1330	+			444			SEA 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.1330G>C	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258187	0.39896	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	3.49	2.58	0.30949	SEA (1);	0.446409	0.18498	N	0.139443	T	0.52773	0.1755	M	0.65975	2.015	0.20307	N	0.999919	D;D;D	0.69078	0.99;0.997;0.969	D;D;D	0.71870	0.938;0.975;0.944	T	0.34527	-0.9825	10	0.62326	D	0.03	-26.671	9.1346	0.36866	0.11:0.0:0.89:0.0	.	372;444;444	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	H	372;372;444;444	ENSP00000383279:D372H;ENSP00000383276:D372H;ENSP00000386126:D444H;ENSP00000386147:D444H	ENSP00000383276:D372H	D	+	1	0	UMODL1	42397077	0.007000	0.16637	0.027000	0.17364	0.029000	0.11900	1.407000	0.34657	0.999000	0.39023	0.655000	0.94253	GAC		0.567	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		
UMODL1	89766	broad.mit.edu	37	21	43524114	43524114	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr21:43524114G>C	ENST00000408910.2	+	9	1436	c.1436G>C	c.(1435-1437)gGc>gCc	p.G479A	UMODL1_ENST00000400427.1_Missense_Mutation_p.G407A|UMODL1_ENST00000400424.2_Missense_Mutation_p.G407A|C21orf128_ENST00000329015.2_Missense_Mutation_p.A40G|UMODL1_ENST00000408989.2_Missense_Mutation_p.G479A	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	479	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TTTCCCATGGGCATCTCCACG	0.622																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zag.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1435-1437)gGc>gCc		Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.							119.0	116.0	117.0					21																	43524114		2203	4300	6503	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43524114G>C		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1436G>C	21.37:g.43524114G>C	ENSP00000386147:p.Gly479Ala					UMODL1_uc002zad.1_Missense_Mutation_p.G407A|UMODL1_uc002zae.1_Missense_Mutation_p.G407A|UMODL1_uc002zaf.1_Missense_Mutation_p.G479A|UMODL1_uc010gow.1_Missense_Mutation_p.G271A|UMODL1_uc002zai.1_Missense_Mutation_p.G130A|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.G130A|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.G224A|C21orf128_uc002zak.2_Missense_Mutation_p.A40G	p.G479A	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN			8	1436	+			479			SEA 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.1436G>C	CCDS42936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.631|8.631	0.893709|0.893709	0.17613|0.17613	.|.	.|.	ENSG00000184385|ENSG00000177398	ENST00000329015|ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T|T;T;T;T	0.55052|0.38077	0.54|1.16;1.16;1.16;1.16	3.49|3.49	-2.52|-2.52	0.06346|0.06346	.|SEA (1);	.|1.968120	.|0.02869	.|N	.|0.131242	T|T	0.40815|0.40815	0.1132|0.1132	M|M	0.65975|0.65975	2.015|2.015	0.09310|0.09310	N|N	1|1	B|B;B;B	0.02656|0.32753	0.0|0.36;0.383;0.067	B|B;B;B	0.01281|0.40009	0.0|0.098;0.316;0.101	T|T	0.42481|0.42481	-0.9449|-0.9449	9|10	0.87932|0.62326	D|D	0|0.03	-2.2341|-2.2341	4.5218|4.5218	0.11962|0.11962	0.4413:0.3159:0.2428:0.0|0.4413:0.3159:0.2428:0.0	.|.	40|407;479;479	Q8N2C9|Q5DID0-3;Q5DID0-2;Q5DID0	CU128_HUMAN|.;.;UROL1_HUMAN	G|A	40|407;407;479;479	ENSP00000328495:A40G|ENSP00000383279:G407A;ENSP00000383276:G407A;ENSP00000386126:G479A;ENSP00000386147:G479A	ENSP00000328495:A40G|ENSP00000383276:G407A	A|G	-|+	2|2	0|0	C21orf128|UMODL1	42397183|42397183	0.006000|0.006000	0.16342|0.16342	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	0.194000|0.194000	0.17135|0.17135	-0.578000|-0.578000	0.05959|0.05959	-0.127000|-0.127000	0.14921|0.14921	GCC|GGC		0.622	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		
TRPM2	7226	broad.mit.edu	37	21	45817635	45817635	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr21:45817635G>C	ENST00000397928.1	+	13	2383	c.1938G>C	c.(1936-1938)caG>caC	p.Q646H	TRPM2_ENST00000300482.5_Missense_Mutation_p.Q646H|TRPM2_ENST00000300481.9_Missense_Mutation_p.Q626H|TRPM2_ENST00000397932.2_Missense_Mutation_p.Q646H|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	646					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCAGAGCCAGGACTGCATCG	0.627																																						uc010gpt.1																			0		p.S645R(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(1936-1938)caG>caC		Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.							38.0	34.0	35.0					21																	45817635		2202	4294	6496	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45817635G>C	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1938G>C	21.37:g.45817635G>C	ENSP00000381023:p.Gln646His					TRPM2_uc002zet.1_Missense_Mutation_p.Q646H|TRPM2_uc002zeu.1_Missense_Mutation_p.Q646H|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.Q646H|TRPM2_uc002zex.1_Missense_Mutation_p.Q432H|TRPM2_uc002zey.1_Missense_Mutation_p.Q159H	p.Q646H	NM_003307	NP_003298	O94759	TRPM2_HUMAN			12	2038	+			646					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1938G>C	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314818	0.23908	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	4.8	3.91	0.45181	.	0.338274	0.30930	N	0.008593	T	0.59445	0.2194	L	0.33753	1.03	0.42091	D	0.991295	B;B;B	0.24092	0.097;0.011;0.097	B;B;B	0.17098	0.017;0.007;0.017	T	0.57323	-0.7831	10	0.33141	T	0.24	-24.3103	8.305	0.32036	0.0833:0.1577:0.7589:0.0	.	646;432;646	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	H	646;646;626;646	ENSP00000300482:Q646H;ENSP00000381023:Q646H;ENSP00000300481:Q626H;ENSP00000381026:Q646H	ENSP00000300481:Q626H	Q	+	3	2	TRPM2	44642063	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.731000	0.38135	2.206000	0.71126	0.585000	0.79938	CAG		0.627	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
PROS1	5627	broad.mit.edu	37	3	93646100	93646100	+	Silent	SNP	C	C	T	rs6121		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr3:93646100C>T	ENST00000394236.3	-	2	544	c.228G>A	c.(226-228)ccG>ccA	p.P76P	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	76	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.		P -> L (in dbSNP:rs73846070). {ECO:0000269|PubMed:10613647, ECO:0000269|PubMed:15712227, ECO:0000269|PubMed:7803790}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TTACCGTTTCCGGGTCATTTT	0.388																																						uc003drb.4																			0		p.D75Y(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(226-228)ccG>ccA		Homo sapiens protein S (alpha) (PROS1), mRNA.	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						102.0	100.0	101.0					3																	93646100		2203	4300	6503	SO:0001819	synonymous_variant	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93646100C>T		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.228G>A	3.37:g.93646100C>T						PROS1_uc010hoo.3_5'UTR|PROS1_uc003dqz.4_5'UTR	p.P76P	NM_000313	NP_000304	P07225	PROS_HUMAN			1	569	-			76		P -> L.	Gla.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Silent	SNP	ENST00000394236.3	37	c.228G>A	CCDS2923.1																																																																																				0.388	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313	
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr3:169896635_169896637delTGG	ENST00000494943.1	-	2	136_138	c.68_70delCCA	c.(67-72)accatc>atc	p.T23del	PHC3_ENST00000481639.1_In_Frame_Del_p.T35del|PHC3_ENST00000467570.1_In_Frame_Del_p.T35del|PHC3_ENST00000474275.1_In_Frame_Del_p.T23del|PHC3_ENST00000495893.2_In_Frame_Del_p.T35del|PHC3_ENST00000497658.1_In_Frame_Del_p.T35del			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	23	Poly-Thr.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493																																						uc003fgl.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(103-108)accatc>atc		Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.				6,3998		2,2,1998						3.6	1.0			276	21,8059		10,1,4029	no	coding	PHC3	NM_024947.3		12,3,6027	A1A1,A1R,RR		0.2599,0.1499,0.2234				27,12057				SO:0001651	inframe_deletion	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169896635_169896637delTGG		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.68_70delCCA	3.37:g.169896644_169896646delTGG	ENSP00000420271:p.Thr23del					PHC3_uc010hws.1_In_Frame_Del_p.T23del|PHC3_uc011bpq.1_In_Frame_Del_p.T35del|PHC3_uc011bpr.1_In_Frame_Del_p.T35del|PHC3_uc003fgm.2_In_Frame_Del_p.T35del|PHC3_uc003fgo.1_In_Frame_Del_p.T23del|PHC3_uc003fgp.3_In_Frame_Del_p.T35del|PHC3_uc003fgq.3_In_Frame_Del_p.T35del|PHC3_uc003fgr.1_Non-coding_Transcript	p.T35del	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		1	138_140	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		23					A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	In_Frame_Del	DEL	ENST00000494943.1	37	c.104_106delCCA																																																																																					0.493	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947	
TNIK	23043	broad.mit.edu	37	3	170819385	170819385	+	Missense_Mutation	SNP	C	C	T	rs201193783	byFrequency	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr3:170819385C>T	ENST00000436636.2	-	22	2788	c.2444G>A	c.(2443-2445)cGg>cAg	p.R815Q	TNIK_ENST00000460047.1_Missense_Mutation_p.R752Q|TNIK_ENST00000488470.1_Missense_Mutation_p.R760Q|TNIK_ENST00000369326.5_Missense_Mutation_p.R793Q|TNIK_ENST00000475336.1_Missense_Mutation_p.R723Q|TNIK_ENST00000341852.6_Missense_Mutation_p.R731Q|TNIK_ENST00000284483.8_Missense_Mutation_p.R807Q|TNIK_ENST00000470834.1_Missense_Mutation_p.R778Q|TNIK_ENST00000357327.5_Missense_Mutation_p.R786Q|TNIK_ENST00000538048.1_Missense_Mutation_p.R767Q	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	815	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTCTTCAATCCGGAGTTCTCT	0.453													C|||	2	0.000399361	0.0	0.0	5008	,	,		18793	0.0		0.001	False		,,,				2504	0.001					uc003fhh.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(2443-2445)cGg>cAg		Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3956		0,0,1978	243.0	217.0	226.0		2420,2357,2333,2279,2255,2192,2168,2444	6.0	1.0	3		226	2,8350		0,2,4174	yes	missense,missense,missense,missense,missense,missense,missense,missense	TNIK	NM_001161560.1,NM_001161561.1,NM_001161562.1,NM_001161563.1,NM_001161564.1,NM_001161565.1,NM_001161566.1,NM_015028.2	43,43,43,43,43,43,43,43	0,2,6152	TT,TC,CC		0.0239,0.0,0.0162	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	807/1353,786/1332,778/1324,760/1306,752/1298,731/1277,723/1269,815/1361	170819385	2,12306	1978	4176	6154	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170819385C>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2444G>A	3.37:g.170819385C>T	ENSP00000399511:p.Arg815Gln					TNIK_uc003fhi.2_Missense_Mutation_p.R760Q|TNIK_uc003fhj.2_Missense_Mutation_p.R786Q|TNIK_uc003fhk.2_Missense_Mutation_p.R807Q|TNIK_uc003fhl.2_Missense_Mutation_p.R731Q|TNIK_uc003fhm.2_Missense_Mutation_p.R752Q|TNIK_uc003fhn.2_Missense_Mutation_p.R778Q|TNIK_uc003fho.2_Missense_Mutation_p.R723Q|TNIK_uc003fhg.2_5'UTR	p.R815Q	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		21	2789	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		815			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.2444G>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678308	0.88542	0.0	2.39E-4	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	D;D;D;D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.89192	0.6645	M	0.64997	1.995	0.80722	D	1	D;P;D;D;D;D;D;D	0.69078	0.997;0.926;0.997;0.997;0.986;0.966;0.997;0.99	D;P;D;D;P;P;D;P	0.69479	0.964;0.726;0.964;0.964;0.848;0.8;0.964;0.837	D	0.83771	0.0220	10	0.12766	T	0.61	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	723;778;752;731;807;786;760;815	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	Q	815;793;767;731;807;723;786;752;760;778	ENSP00000399511:R815Q;ENSP00000358332:R793Q;ENSP00000443278:R767Q;ENSP00000345352:R731Q;ENSP00000284483:R807Q;ENSP00000418156:R723Q;ENSP00000349880:R786Q;ENSP00000418916:R752Q;ENSP00000418378:R760Q;ENSP00000419990:R778Q	ENSP00000284483:R807Q	R	-	2	0	TNIK	172302079	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.291000	0.78721	2.857000	0.98124	0.650000	0.86243	CGG		0.453	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
LGI2	55203	broad.mit.edu	37	4	25032262	25032264	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr4:25032262_25032264delCAG	ENST00000382114.4	-	1	237_239	c.52_54delCTG	c.(52-54)ctgdel	p.L18del		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	18						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				ACGCGGCGCCCAGCAGCAGCAGC	0.764																																						uc003grf.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(52-54)ctgdel		Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.				153,3033		12,129,1452						0.4	1.0			6	338,5938		29,280,2829	no	coding	LGI2	NM_018176.3		41,409,4281	A1A1,A1R,RR		5.3856,4.8023,5.1892				491,8971				SO:0001651	inframe_deletion	55203					extracellular region		g.chr4:25032262_25032264delCAG	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.52_54delCTG	4.37:g.25032271_25032273delCAG	ENSP00000371548:p.Leu18del						p.L18del	NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN			0	151_153	-		Breast(46;0.173)	18					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	In_Frame_Del	DEL	ENST00000382114.4	37	c.52_54delCTG	CCDS3431.1																																																																																				0.764	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1		
ARAP2	116984	broad.mit.edu	37	4	36085016	36085016	+	Silent	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr4:36085016C>T	ENST00000303965.4	-	29	4971	c.4482G>A	c.(4480-4482)gtG>gtA	p.V1494V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1494	PH 5. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTTCTTTTTCACTCCACGAT	0.313																																						uc003gsq.2																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(4480-4482)gtG>gtA		Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.							79.0	74.0	76.0					4																	36085016		2201	4298	6499	SO:0001819	synonymous_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36085016C>T	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4482G>A	4.37:g.36085016C>T							p.V1494V	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			28	4820	-			1494			PH 5.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	c.4482G>A	CCDS3441.1																																																																																				0.313	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
FRAS1	80144	broad.mit.edu	37	4	79204019	79204019	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr4:79204019C>T	ENST00000325942.6	+	12	1593	c.1153C>T	c.(1153-1155)Cga>Tga	p.R385*	FRAS1_ENST00000264899.6_Nonsense_Mutation_p.R385*|FRAS1_ENST00000264895.6_Nonsense_Mutation_p.R385*	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	385	VWFC 6. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGTGAGTGCCGAGGGGCTCA	0.537																																						uc003hlb.2																			0		p.R385R(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(1153-1155)Cga>Tga		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							107.0	111.0	110.0					4																	79204019		2026	4180	6206	SO:0001587	stop_gained	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79204019C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1153C>T	4.37:g.79204019C>T	ENSP00000326330:p.Arg385*					FRAS1_uc003hkw.3_Nonsense_Mutation_p.R385*|FRAS1_uc003hky.1_Nonsense_Mutation_p.R89*|FRAS1_uc003hkz.3_Nonsense_Mutation_p.R89*	p.R385*	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			11	1593	+			385			VWFC 6.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	ENST00000325942.6	37	c.1153C>T	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.848429|4.848429	0.91277|0.91277	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000508900|ENST00000325942;ENST00000264895;ENST00000264899;ENST00000534913	.|.	.|.	.|.	5.6|5.6	4.76|4.76	0.60689|0.60689	.|.	.|0.421580	.|0.24345	.|N	.|0.039336	T|.	0.36166|.	0.0957|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34428|.	-0.9829|.	3|.	.|0.02654	.|T	.|1	.|.	14.6448|14.6448	0.68754|0.68754	0.0:0.9298:0.0:0.0702|0.0:0.9298:0.0:0.0702	.|.	.|.	.|.	.|.	L|X	227|385;385;385;125	.|.	.|ENSP00000264895:R385X	P|R	+|+	2|1	0|2	FRAS1|FRAS1	79423043|79423043	0.616000|0.616000	0.27035|0.27035	0.899000|0.899000	0.35326|0.35326	0.468000|0.468000	0.32798|0.32798	0.999000|0.999000	0.29757|0.29757	1.362000|1.362000	0.46000|0.46000	0.563000|0.563000	0.77884|0.77884	CCG|CGA		0.537	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
HPGD	3248	broad.mit.edu	37	4	175439163	175439163	+	Missense_Mutation	SNP	T	T	A	rs376310920		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr4:175439163T>A	ENST00000296522.6	-	3	729	c.283A>T	c.(283-285)Aat>Tat	p.N95Y	HPGD_ENST00000510901.1_5'UTR|HPGD_ENST00000542498.1_Missense_Mutation_p.N95Y|HPGD_ENST00000504433.1_Missense_Mutation_p.N95Y|HPGD_ENST00000541923.1_Intron|HPGD_ENST00000422112.2_Intron|HPGD_ENST00000296521.7_Missense_Mutation_p.N95Y	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	95					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		TTCTCATTATTCACTCCAGCA	0.279																																						uc003itu.2																			0				kidney(1)|lung(3)|prostate(3)	7						c.(283-285)Aat>Tat		Homo sapiens hydroxyprostaglandin dehydrogenase 15-(NAD) (HPGD), transcript variant 1, mRNA.	NADH(DB00157)						67.0	66.0	66.0					4																	175439163		2201	4293	6494	SO:0001583	missense	3248				female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity	g.chr4:175439163T>A		CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	5154	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 36C, member 1"""	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.283A>T	4.37:g.175439163T>A	ENSP00000296522:p.Asn95Tyr					HPGD_uc003itv.2_Missense_Mutation_p.N95Y|HPGD_uc011ckf.1_Intron|HPGD_uc010irq.2_Missense_Mutation_p.N95Y|HPGD_uc011ckg.1_Intron|HPGD_uc011ckh.1_5'UTR	p.N95Y	NM_000860	NP_000851	P15428	PGDH_HUMAN		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	2	473	-		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)	95					B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Missense_Mutation	SNP	ENST00000296522.6	37	c.283A>T	CCDS3821.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.177479	0.78564	.	.	ENSG00000164120	ENST00000296522;ENST00000296521;ENST00000542498;ENST00000504433	D;D;D;D	0.87412	-1.93;-1.93;-2.25;-2.25	5.98	5.98	0.97165	NAD(P)-binding domain (1);	0.083802	0.85682	D	0.000000	D	0.84316	0.5445	N	0.03050	-0.425	0.58432	D	0.999999	D;D;P;D;D	0.89917	1.0;0.975;0.955;0.988;0.991	D;D;P;P;D	0.91635	0.999;0.927;0.883;0.851;0.918	D	0.85921	0.1446	10	0.28530	T	0.3	.	15.4404	0.75178	0.0:0.0:0.0:1.0	.	95;95;95;95;95	O00749;E9PBZ2;Q12998;B4DV57;P15428	.;.;.;.;PGDH_HUMAN	Y	95	ENSP00000296522:N95Y;ENSP00000296521:N95Y;ENSP00000443644:N95Y;ENSP00000420892:N95Y	ENSP00000296521:N95Y	N	-	1	0	HPGD	175675738	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.289000	0.65656	2.288000	0.76882	0.482000	0.46254	AAT		0.279	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362228.3		
PLCXD3	345557	broad.mit.edu	37	5	41382349	41382349	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr5:41382349A>G	ENST00000377801.3	-	2	465	c.391T>C	c.(391-393)Ttc>Ctc	p.F131L	PLCXD3_ENST00000328457.3_Missense_Mutation_p.F131L			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	131	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTGTGAGGAATGCATTGATC	0.433																																						uc003jmm.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(391-393)Ttc>Ctc		Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.							122.0	120.0	120.0					5																	41382349		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382349A>G		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.391T>C	5.37:g.41382349A>G	ENSP00000367032:p.Phe131Leu						p.F131L	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			1	493	-			131			PI-PLC X-box.		A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.391T>C	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.725940	0.69074	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	T;T	0.63744	-0.06;-0.06	5.81	5.81	0.92471	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.044872	0.85682	D	0.000000	T	0.72622	0.3483	M	0.90369	3.11	0.80722	D	1	B	0.19583	0.037	B	0.28011	0.085	T	0.73662	-0.3912	10	0.87932	D	0	-13.6959	16.1667	0.81768	1.0:0.0:0.0:0.0	.	131	Q63HM9	PLCX3_HUMAN	L	131	ENSP00000367032:F131L;ENSP00000333751:F131L	ENSP00000333751:F131L	F	-	1	0	PLCXD3	41418106	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.923000	0.92808	2.210000	0.71456	0.533000	0.62120	TTC		0.433	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875	
ATXN1	6310	broad.mit.edu	37	6	16327903	16327903	+	Missense_Mutation	SNP	C	C	A	rs3817753		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr6:16327903C>A	ENST00000244769.4	-	8	1575	c.639G>T	c.(637-639)caG>caT	p.Q213H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q213H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	213	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgatgct	0.667																																						uc003nbt.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(637-639)caG>caT		Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.							5.0	8.0	7.0					6																	16327903		1624	3504	5128	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327903C>A	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.639G>T	6.37:g.16327903C>A	ENSP00000244769:p.Gln213His					ATXN1_uc010jpi.3_Missense_Mutation_p.Q213H|ATXN1_uc010jpj.1_Intron	p.Q213H	NM_000332	NP_001121636	P54253	ATX1_HUMAN			7	1610	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	213			Poly-Gln.		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.639G>T	CCDS34342.1	221	0.10119047619047619	38	0.07723577235772358	47	0.1298342541436464	89	0.1555944055944056	47	0.06200527704485488	C	4.787	0.146322	0.09134	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.62941	-0.01;-0.01	.	.	.	.	.	.	.	.	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.19582	-1.0301	5	0.45353	T	0.12	.	.	.	.	rs3817753	213	P54253	ATX1_HUMAN	H	213	ENSP00000244769:Q213H;ENSP00000416360:Q213H	ENSP00000244769:Q213H	Q	-	3	2	ATXN1	16435882	0.034000	0.19679	0.018000	0.16275	0.072000	0.16883	0.306000	0.19279	0.000000	0.14550	0.000000	0.15137	CAG		0.667	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
RSPO3	84870	broad.mit.edu	37	6	127469958	127469958	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr6:127469958G>A	ENST00000356698.4	+	2	852	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	RSPO3_ENST00000485757.1_3'UTR|RSPO3_ENST00000368317.3_Missense_Mutation_p.R88Q	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	88					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		TATGGAACTCGATATCCAGAT	0.363																																						uc003qas.1																		PTPRK/RSPO3(10)	0		p.R88*(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(262-264)cGa>cAa		Homo sapiens R-spondin 3 (RSPO3), mRNA.							125.0	119.0	121.0					6																	127469958		2203	4300	6503	SO:0001583	missense	84870					extracellular region	heparin binding	g.chr6:127469958G>A	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"""Endogenous ligands"""	20866	protein-coding gene	gene with protein product		610574	"""thrombospondin, type I, domain containing 2"", ""R-spondin 3 homolog (Xenopus laevis)"""	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.263G>A	6.37:g.127469958G>A	ENSP00000349131:p.Arg88Gln					RSPO3_uc003qar.3_Missense_Mutation_p.R88Q	p.R88Q	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)	1	553	+			88					B2RC27|Q5VTV4|Q96K87	Missense_Mutation	SNP	ENST00000356698.4	37	c.263G>A	CCDS5135.1	.	.	.	.	.	.	.	.	.	.	G	34	5.297867	0.95574	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	D;D	0.91351	-2.83;-2.83	5.73	5.73	0.89815	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.92097	0.7495	L	0.39020	1.185	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	D	0.90969	0.4818	10	0.40728	T	0.16	-15.5343	19.9155	0.97058	0.0:0.0:1.0:0.0	.	88;88	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	Q	88	ENSP00000349131:R88Q;ENSP00000357300:R88Q	ENSP00000349131:R88Q	R	+	2	0	RSPO3	127511651	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.699000	0.92147	0.650000	0.86243	CGA		0.363	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784	
ZBTB2	57621	broad.mit.edu	37	6	151687542	151687542	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr6:151687542G>T	ENST00000325144.4	-	3	799	c.659C>A	c.(658-660)aCc>aAc	p.T220N		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TTCCAGATTGGTCTCCTCCCC	0.552																																						uc003qoh.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(658-660)aCc>aAc		Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.							101.0	91.0	94.0					6																	151687542		2203	4300	6503	SO:0001583	missense	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151687542G>T	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.659C>A	6.37:g.151687542G>T	ENSP00000323183:p.Thr220Asn						p.T220N	NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	2	794	-			220					A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	ENST00000325144.4	37	c.659C>A	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	G	4.632	0.117415	0.08881	.	.	ENSG00000181472	ENST00000325144	T	0.04758	3.56	5.64	4.78	0.61160	.	0.741774	0.14022	N	0.346711	T	0.00998	0.0033	N	0.08118	0	0.22591	N	0.99895	B	0.02656	0.0	B	0.01281	0.0	T	0.48340	-0.9044	10	0.46703	T	0.11	-27.079	8.2163	0.31514	0.0719:0.0:0.6592:0.2689	.	220	Q8N680	ZBTB2_HUMAN	N	220	ENSP00000323183:T220N	ENSP00000323183:T220N	T	-	2	0	ZBTB2	151729235	0.979000	0.34478	1.000000	0.80357	0.978000	0.69477	1.921000	0.40035	1.381000	0.46364	0.655000	0.94253	ACC		0.552	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861	
MACC1	346389	broad.mit.edu	37	7	20180649	20180649	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr7:20180649C>A	ENST00000400331.5	-	7	2787	c.2479G>T	c.(2479-2481)Gaa>Taa	p.E827*	MACC1_ENST00000589011.1_Nonsense_Mutation_p.E827*|MACC1-AS1_ENST00000439285.1_RNA|MACC1_ENST00000332878.4_Nonsense_Mutation_p.E827*	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	827					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CCAGTTAATTCTCTCCAGTGT	0.383																																						uc003sus.4																			0				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						c.(2479-2481)Gaa>Taa		Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.							92.0	97.0	95.0					7																	20180649		2203	4300	6503	SO:0001587	stop_gained	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20180649C>A		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.2479G>T	7.37:g.20180649C>A	ENSP00000383185:p.Glu827*					MACC1_uc010kug.3_Nonsense_Mutation_p.E827*	p.E827*	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			6	2788	-			827					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Nonsense_Mutation	SNP	ENST00000400331.5	37	c.2479G>T	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	C	43	10.031400	0.99321	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	.	.	.	5.74	5.74	0.90152	.	0.194831	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-11.4013	19.9351	0.97137	0.0:1.0:0.0:0.0	.	.	.	.	X	827	.	ENSP00000328410:E827X	E	-	1	0	MACC1	20147174	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	6.320000	0.72876	2.703000	0.92315	0.655000	0.94253	GAA		0.383	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762	
EGFR	1956	broad.mit.edu	37	7	55221763	55221763	+	Silent	SNP	C	C	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr7:55221763C>G	ENST00000275493.2	+	7	984	c.807C>G	c.(805-807)ctC>ctG	p.L269L	EGFR_ENST00000442591.1_Silent_p.L269L|EGFR_ENST00000344576.2_Silent_p.L269L|EGFR_ENST00000342916.3_Silent_p.L269L|EGFR_ENST00000420316.2_Silent_p.L269L|EGFR_ENST00000454757.2_Silent_p.L216L|EGFR_ENST00000455089.1_Silent_p.L224L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	269			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CACTCATGCTCTACAACCCCA	0.577		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0		p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(805-807)ctC>ctG		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						212.0	166.0	182.0					7																	55221763		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221763C>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.807C>G	7.37:g.55221763C>G		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Silent_p.L269L|EGFR_uc003tqi.3_Silent_p.L269L|EGFR_uc003tqj.3_Silent_p.L269L|EGFR_uc022adm.1_Silent_p.L269L|EGFR_uc010kzg.2_Silent_p.L224L|EGFR_uc022adn.1_Silent_p.L224L|EGFR_uc011kco.2_Silent_p.L216L|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.L269L	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1053	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		269					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.807C>G	CCDS5514.1																																																																																				0.577	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EPHA1	2041	broad.mit.edu	37	7	143097029	143097029	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr7:143097029C>T	ENST00000275815.3	-	4	636	c.550G>A	c.(550-552)Gct>Act	p.A184T		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	184	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTGTGGAAAGCGAGGTAGAGG	0.617																																						uc003wcz.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(550-552)Gct>Act		Homo sapiens EPH receptor A1 (EPHA1), mRNA.							31.0	32.0	31.0					7																	143097029		2203	4298	6501	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143097029C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.550G>A	7.37:g.143097029C>T	ENSP00000275815:p.Ala184Thr						p.A184T	NM_005232	NP_005223	P21709	EPHA1_HUMAN			3	637	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	184					A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.550G>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	35	5.578904	0.96565	.	.	ENSG00000146904	ENST00000275815	T	0.10960	2.82	4.79	4.79	0.61399	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.56097	D	0.000029	T	0.42471	0.1204	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54296	-0.8315	10	0.87932	D	0	.	18.0282	0.89275	0.0:1.0:0.0:0.0	.	184	P21709	EPHA1_HUMAN	T	184	ENSP00000275815:A184T	ENSP00000275815:A184T	A	-	1	0	EPHA1	142807151	1.000000	0.71417	0.951000	0.38953	0.990000	0.78478	7.625000	0.83145	2.469000	0.83416	0.655000	0.94253	GCT		0.617	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1		
MYC	4609	broad.mit.edu	37	8	128750605	128750607	+	In_Frame_Del	DEL	CAG	CAG	-	rs61752959	byFrequency	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr8:128750605_128750607delCAG	ENST00000259523.6	+	2	1302_1304	c.97_99delCAG	c.(97-99)cagdel	p.Q37del	MYC_ENST00000377970.2_In_Frame_Del_p.Q52del|MYC_ENST00000524013.1_In_Frame_Del_p.Q51del			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	37	Poly-Gln.				branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Q33H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	GAACTTCTACCAGCAGCAGCAGC	0.611		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc022bbe.1		3		Dom	yes		8	8q24.12-q24.13	4609	"""A, T"""	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""		"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""		1	Substitution - Missense(1)	p.Q33H(1)	skin(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(97-99)cagdel		Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.																																				SO:0001651	inframe_deletion	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128750605_128750607delCAG		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.97_99delCAG	8.37:g.128750614_128750616delCAG	ENSP00000259523:p.Gln37del		OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567	MYC_uc003ysh.1_In_Frame_Del_p.Q37del|MYC_uc003ysi.3_In_Frame_Del_p.Q52del	p.Q37del			P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	1	667_669	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	37			Poly-Gln.		A8WFE7|P01107|Q14026	In_Frame_Del	DEL	ENST00000259523.6	37	c.97_99delCAG																																																																																					0.611	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1		
BNC2	54796	broad.mit.edu	37	9	16437497	16437497	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr9:16437497C>T	ENST00000380672.4	-	6	752	c.695G>A	c.(694-696)cGc>cAc	p.R232H	BNC2_ENST00000545497.1_Missense_Mutation_p.R137H|BNC2_ENST00000380667.2_Missense_Mutation_p.R165H|BNC2_ENST00000380666.2_Missense_Mutation_p.R232H	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GATGGCCCAGCGGTCCAGCAC	0.448																																						uc003zml.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(694-696)cGc>cAc		Homo sapiens basonuclin 2 (BNC2), mRNA.							28.0	31.0	30.0					9																	16437497		2189	4279	6468	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16437497C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.695G>A	9.37:g.16437497C>T	ENSP00000370047:p.Arg232His					BNC2_uc011lmw.2_Missense_Mutation_p.R137H|BNC2_uc003zmm.3_Missense_Mutation_p.R190H|BNC2_uc003zmq.1_Missense_Mutation_p.R246H|BNC2_uc003zmr.1_Missense_Mutation_p.R269H|BNC2_uc003zmp.1_Missense_Mutation_p.R260H|BNC2_uc010mij.1_Missense_Mutation_p.R154H|BNC2_uc011lmv.2_Missense_Mutation_p.R58H|BNC2_uc003zmo.1_Missense_Mutation_p.R154H|BNC2_uc003zmj.3_5'UTR|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_5'UTR|BNC2_uc003zmn.1_5'UTR	p.R232H	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	5	835	-			232						Missense_Mutation	SNP	ENST00000380672.4	37	c.695G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	14.56	2.570814	0.45798	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.03801	3.8;3.8;3.8;3.8;3.8	6.07	6.07	0.98685	.	0.045107	0.85682	D	0.000000	T	0.07638	0.0192	N	0.02539	-0.55	0.80722	D	1	B;B;D;D;B;D;P	0.89917	0.03;0.311;1.0;0.999;0.026;0.999;0.793	B;B;D;D;B;D;B	0.80764	0.007;0.046;0.933;0.994;0.018;0.98;0.066	T	0.63817	-0.6551	10	0.19590	T	0.45	-19.79	20.2697	0.98465	0.0:1.0:0.0:0.0	.	137;165;269;232;58;190;232	F5H586;B1APH0;Q06HC4;Q6ZN30-2;B4E3J2;Q5H9S4;Q6ZN30	.;.;.;.;.;.;BNC2_HUMAN	H	232;189;269;260;165;137;58;232;232	ENSP00000370047:R232H;ENSP00000408370:R189H;ENSP00000370042:R165H;ENSP00000444640:R137H;ENSP00000370041:R232H	ENSP00000370041:R232H	R	-	2	0	BNC2	16427497	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.968000	0.63728	2.885000	0.99019	0.655000	0.94253	CGC		0.448	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
NOL8	55035	broad.mit.edu	37	9	95078415	95078415	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr9:95078415G>C	ENST00000535387.1	-	6	491	c.492C>G	c.(490-492)atC>atG	p.I164M	NOL8_ENST00000358855.4_Missense_Mutation_p.I96M|NOL8_ENST00000542053.1_Missense_Mutation_p.I96M|NOL8_ENST00000442668.2_Missense_Mutation_p.I164M|NOL8_ENST00000545558.1_Missense_Mutation_p.I164M					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GATCATATTTGATGATGTTAC	0.358																																						uc022bjx.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(490-492)atC>atG		Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.							94.0	83.0	87.0					9																	95078415		1859	4103	5962	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95078415G>C	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.492C>G	9.37:g.95078415G>C	ENSP00000441300:p.Ile164Met					NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Missense_Mutation_p.I96M	p.I164M	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN			6	829	-			164						Missense_Mutation	SNP	ENST00000535387.1	37	c.492C>G	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	G	2.106	-0.404930	0.04832	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029;ENST00000421075;ENST00000411621;ENST00000535807	T;T;T;T;T;T;T;T	0.44083	2.52;2.49;2.52;2.73;2.49;2.25;0.93;0.97	5.07	0.0225	0.14133	.	0.545686	0.21062	N	0.080817	T	0.19406	0.0466	N	0.14661	0.345	0.22996	N	0.998459	B	0.25312	0.123	B	0.17979	0.02	T	0.17228	-1.0376	10	0.20519	T	0.43	-6.0484	6.6605	0.23011	0.0:0.3572:0.3296:0.3131	.	164	Q76FK4	NOL8_HUMAN	M	164;166;96;164;164;96;164;164;164;96;96	ENSP00000401177:I164M;ENSP00000351723:I96M;ENSP00000441140:I164M;ENSP00000441300:I164M;ENSP00000440709:I96M;ENSP00000414112:I164M;ENSP00000412471:I164M;ENSP00000390143:I164M	ENSP00000351723:I96M	I	-	3	3	NOL8	94118236	0.978000	0.34361	0.995000	0.50966	0.289000	0.27227	0.034000	0.13776	-0.162000	0.10964	-0.265000	0.10407	ATC		0.358	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948	
KIAA0368	23392	broad.mit.edu	37	9	114145511	114145511	+	Silent	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr9:114145511C>T	ENST00000338205.5	-	34	4002	c.3783G>A	c.(3781-3783)gtG>gtA	p.V1261V	KIAA0368_ENST00000259335.4_Silent_p.V1439V|KIAA0368_ENST00000374378.3_5'UTR			Q5VYK3	ECM29_HUMAN	KIAA0368	1267					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GAACTTCCGTCACGGTGCTCA	0.483																																						uc004bfe.1																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(4315-4317)gtG>gtA		Homo sapiens KIAA0368 (KIAA0368), mRNA.							64.0	65.0	64.0					9																	114145511		2003	4167	6170	SO:0001819	synonymous_variant	23392							g.chr9:114145511C>T	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.3783G>A	9.37:g.114145511C>T							p.V1439V	NM_001080398	NP_001073867					35	4317	-								O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37	c.4317G>A																																																																																					0.483	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686	
PHEX	5251	broad.mit.edu	37	X	22132590	22132590	+	Silent	SNP	C	C	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:22132590C>G	ENST00000379374.4	+	11	1753	c.1188C>G	c.(1186-1188)acC>acG	p.T396T	PHEX_ENST00000535894.1_Silent_p.T299T|PHEX_ENST00000537599.1_Silent_p.T396T|PHEX_ENST00000418858.3_Silent_p.T99T	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	396					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TCCAGGGGACCACAACTTTGC	0.398																																						uc004dah.3																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1186-1188)acC>acG		Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.							156.0	135.0	142.0					X																	22132590		2203	4300	6503	SO:0001819	synonymous_variant	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22132590C>G	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1188C>G	X.37:g.22132590C>G						PHEX_uc011mjr.2_Silent_p.T396T|PHEX_uc011mjs.2_Silent_p.T299T	p.T396T	NM_000444	NP_000435	P78562	PHEX_HUMAN			10	1391	+			396					O00678|Q13646|Q2M325|Q93032|Q99827	Silent	SNP	ENST00000379374.4	37	c.1188C>G	CCDS14204.1																																																																																				0.398	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444	
DCAF8L1	139425	broad.mit.edu	37	X	27999308	27999308	+	Silent	SNP	G	G	A	rs147579544	byFrequency	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:27999308G>A	ENST00000441525.1	-	1	258	c.144C>T	c.(142-144)acC>acT	p.T48T		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	48										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CACCATCTCCGGTCGATGGCT	0.532													G|||	1	0.000264901	0.0008	0.0	3775	,	,		13623	0.0		0.0	False		,,,				2504	0.0					uc004dbx.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(142-144)acC>acT		Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.		G		0,3833		0,0,1631,571	104.0	77.0	86.0		144	-1.7	0.0	X	dbSNP_134	86	5,6723		0,5,2423,1872	no	coding-synonymous	DCAF8L1	NM_001017930.1		0,5,4054,2443	AA,AG,GG,G		0.0743,0.0,0.0473		48/601	27999308	5,10556	2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27999308G>A		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.144C>T	X.37:g.27999308G>A							p.T48T	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			0	259	-			48					B3KXX1	Silent	SNP	ENST00000441525.1	37	c.144C>T	CCDS35222.1																																																																																				0.532	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690	
MAGEB16	139604	broad.mit.edu	37	X	35821053	35821053	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:35821053G>A	ENST00000399989.1	+	2	1019	c.740G>A	c.(739-741)aGa>aAa	p.R247K	MAGEB16_ENST00000399987.1_Missense_Mutation_p.R247K|MAGEB16_ENST00000399988.1_Missense_Mutation_p.R247K|MAGEB16_ENST00000399992.1_Missense_Mutation_p.R279K|MAGEB16_ENST00000399985.1_Missense_Mutation_p.R247K	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	247	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GGAGAGCCCAGAATGCTCATC	0.493																																						uc010ngt.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(739-741)aGa>aAa		Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.							45.0	44.0	44.0					X																	35821053		2167	4284	6451	SO:0001583	missense	139604							g.chrX:35821053G>A		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.740G>A	X.37:g.35821053G>A	ENSP00000382871:p.Arg247Lys					MAGEB16_uc022bus.1_Missense_Mutation_p.R247K	p.R247K	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN			1	1019	+			247			MAGE.		A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	c.740G>A	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	G	4.871	0.161867	0.09287	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.04083	3.71;3.71;3.71;3.71;3.71	3.06	-4.85	0.03142	.	0.390356	0.28766	N	0.014212	T	0.02929	0.0087	N	0.25647	0.755	0.09310	N	1	B	0.16802	0.019	B	0.23419	0.046	T	0.29366	-1.0014	10	0.39692	T	0.17	.	6.1748	0.20437	0.6098:0.147:0.2432:0.0	.	247	A2A368	MAGBG_HUMAN	K	247;279;247;247;247	ENSP00000382870:R247K;ENSP00000382874:R279K;ENSP00000382869:R247K;ENSP00000382871:R247K;ENSP00000382867:R247K	ENSP00000382867:R247K	R	+	2	0	MAGEB16	35730974	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.877000	0.04197	-1.572000	0.01661	-0.441000	0.05720	AGA		0.493	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1		
GPR82	27197	broad.mit.edu	37	X	41587247	41587247	+	Missense_Mutation	SNP	T	T	G	rs144887525		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:41587247T>G	ENST00000302548.4	+	3	1208	c.968T>G	c.(967-969)cTc>cGc	p.L323R	CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378154.1_Intron	NM_080817.4	NP_543007.1	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	323						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						CTATATAATCTCTTTACAAAG	0.333																																						uc022bvd.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(967-969)cTc>cGc		Homo sapiens G protein-coupled receptor 82 (GPR82), mRNA.							18.0	17.0	17.0					X																	41587247		2188	4272	6460	SO:0001583	missense	27197					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:41587247T>G	AF411111	CCDS14259.1	Xp11.4	2012-08-21			ENSG00000171657	ENSG00000171657		"""GPCR / Class A : Orphans"""	4533	protein-coding gene	gene with protein product		300748				11574155	Standard	NM_080817		Approved		uc004dft.3	Q96P67	OTTHUMG00000021373	ENST00000302548.4:c.968T>G	X.37:g.41587247T>G	ENSP00000303549:p.Leu323Arg					CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR82_uc004dfu.1_Non-coding_Transcript|GPR82_uc004dft.3_Missense_Mutation_p.L323R	p.L323R	NM_080817	NP_543007	Q96P67	GPR82_HUMAN			0	968	+			323					Q5VT13	Missense_Mutation	SNP	ENST00000302548.4	37	c.968T>G	CCDS14259.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.151278	0.57151	.	.	ENSG00000171657	ENST00000302548	T	0.45276	0.9	5.29	5.29	0.74685	.	0.000000	0.49305	D	0.000154	T	0.52484	0.1737	L	0.53561	1.675	0.37047	D	0.897434	P	0.45768	0.866	P	0.53809	0.735	T	0.62803	-0.6777	10	0.87932	D	0	-3.9778	13.2039	0.59785	0.0:0.0:0.0:1.0	.	323	Q96P67	GPR82_HUMAN	R	323	ENSP00000303549:L323R	ENSP00000303549:L323R	L	+	2	0	GPR82	41472191	0.994000	0.37717	0.969000	0.41365	0.876000	0.50452	3.707000	0.54838	1.864000	0.54056	0.481000	0.45027	CTC		0.333	GPR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056261.1	NM_080817	
MAGIX	79917	broad.mit.edu	37	X	49021421	49021421	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:49021421G>A	ENST00000412696.2	+	4	500	c.500G>A	c.(499-501)cGt>cAt	p.R167H	MAGIX_ENST00000376339.1_Missense_Mutation_p.R108H|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000425661.2_Intron|MAGIX_ENST00000376338.3_Missense_Mutation_p.R108H	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	167	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.																CGCTGTGGTCGTTTGGAGGTG	0.622													G|||	1	0.000264901	0.0	0.0	3775	,	,		13255	0.0		0.0	False		,,,				2504	0.001					uc010nin.1																			0											c.(499-501)cGt>cAt		Homo sapiens MAGI family member, X-linked (MAGIX), transcript variant 1, mRNA.							33.0	35.0	35.0					X																	49021421		2093	4188	6281	SO:0001583	missense	79917							g.chrX:49021421G>A	AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.500G>A	X.37:g.49021421G>A	ENSP00000387928:p.Arg167His					MAGIX_uc004dmt.2_Intron|MAGIX_uc010nio.1_Intron|MAGIX_uc004dmu.2_Missense_Mutation_p.R108H|MAGIX_uc004dmw.2_Missense_Mutation_p.R100H	p.R167H	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN			3	547	+			167			PDZ.		A6XND4|A8MSX9|B7WP26|Q14C81	Missense_Mutation	SNP	ENST00000412696.2	37	c.500G>A	CCDS48106.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.30|12.30	1.896778|1.896778	0.33535|0.33535	.|.	.|.	ENSG00000017621|ENSG00000017621	ENST00000376339;ENST00000412696;ENST00000376338;ENST00000425285|ENST00000415364	T;T;T;T|.	0.44482|.	0.92;0.92;0.92;0.92|.	4.49|4.49	-1.52|-1.52	0.08637|0.08637	PDZ/DHR/GLGF (4);|.	0.719415|.	0.12081|.	N|.	0.501327|.	T|T	0.44052|0.44052	0.1275|0.1275	M|M	0.74647|0.74647	2.275|2.275	0.20074|0.20074	N|N	0.999934|0.999934	P;B;B|.	0.34757|.	0.467;0.257;0.257|.	B;B;B|.	0.32465|.	0.146;0.03;0.03|.	T|T	0.43507|0.43507	-0.9387|-0.9387	10|5	0.54805|.	T|.	0.06|.	-2.153|-2.153	3.9945|3.9945	0.09551|0.09551	0.4379:0.0:0.3959:0.1662|0.4379:0.0:0.3959:0.1662	.|.	167;108;108|.	Q9H6Y5;Q9H6Y5-3;Q9H6Y5-2|.	MAGIX_HUMAN;.;.|.	H|I	108;167;108;113|136	ENSP00000365517:R108H;ENSP00000387928:R167H;ENSP00000365516:R108H;ENSP00000411713:R113H|.	ENSP00000365516:R108H|.	R|V	+|+	2|1	0|0	MAGIX|MAGIX	48908365|48908365	0.000000|0.000000	0.05858|0.05858	0.666000|0.666000	0.29783|0.29783	0.796000|0.796000	0.44982|0.44982	-0.089000|-0.089000	0.11180|0.11180	-0.312000|-0.312000	0.08741|0.08741	0.529000|0.529000	0.55759|0.55759	CGT|GTT		0.622	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378832.1	NM_024859	
