#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
PLCH2	9651	broad.mit.edu	37	1	2411404	2411404	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:2411404G>A	ENST00000419816.2	+	3	777	c.503G>A	c.(502-504)cGc>cAc	p.R168H	PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000449969.1_Missense_Mutation_p.R141H|PLCH2_ENST00000378488.3_Missense_Mutation_p.R168H|PLCH2_ENST00000378486.3_Missense_Mutation_p.R168H			O75038	PLCH2_HUMAN	phospholipase C, eta 2	168					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CGCCGCCAGCGCACCAGGGAC	0.687																																						uc001aji.1																			0				central_nervous_system(3)|ovary(1)|skin(1)	5						c.(502-504)CGC>CAC		phospholipase C, eta 2							24.0	28.0	27.0					1																	2411404		2112	4183	6295	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2411404G>A	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.503G>A	1.37:g.2411404G>A	ENSP00000389803:p.Arg168His					PLCH2_uc010nyz.1_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	p.R168H	NM_014638	NP_055453	O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	3	777	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	168					A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.503G>A		.	.	.	.	.	.	.	.	.	.	G	29.3	4.996538	0.93167	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889	T;T;T	0.45668	0.89;0.89;0.89	4.92	4.92	0.64577	.	1.134970	0.07106	N	0.841378	T	0.60418	0.2267	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.51585	-0.8687	10	0.52906	T	0.07	.	17.4485	0.87585	0.0:0.0:1.0:0.0	.	168	O75038	PLCH2_HUMAN	H	141;168;168;15	ENSP00000397289:R141H;ENSP00000367747:R168H;ENSP00000367749:R168H	ENSP00000341313:R15H	R	+	2	0	PLCH2	2401264	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.121000	0.94375	2.459000	0.83118	0.491000	0.48974	CGC		0.687	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638	
NCDN	23154	broad.mit.edu	37	1	36028235	36028235	+	Splice_Site	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:36028235G>A	ENST00000373243.2	+	4	1768		c.e4+1		NCDN_ENST00000373253.3_Splice_Site|NCDN_ENST00000356090.4_Splice_Site	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin						bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACGCTCTCCGGTGAGTCTGTA	0.597																																						uc001bza.2																			0				large_intestine(2)|pancreas(1)	3						c.e5+1		neurochondrin isoform 1							24.0	25.0	25.0					1																	36028235		2203	4300	6503	SO:0001630	splice_region_variant	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36028235G>A	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1385+1G>A	1.37:g.36028235G>A						NCDN_uc001bzb.2_Splice_Site_p.R462_splice|NCDN_uc001bzc.2_Splice_Site_p.R445_splice	p.R462_splice	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN			5	1512	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)						D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Splice_Site	SNP	ENST00000373243.2	37	c.1385_splice	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599238	0.66332	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243;ENST00000423723	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8908	0.70606	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCDN	35800822	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.719000	0.74718	2.434000	0.82447	0.462000	0.41574	.		0.597	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284	Intron
KIAA0754	643314	broad.mit.edu	37	1	39876294	39876294	+	5'UTR	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:39876294G>A	ENST00000530275.1	+	0	144				MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754											central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGAAGGCGGCCAAATGCAG	0.478																																						uc009vvt.1																			0					0						c.(355-357)CGG>CGA		hypothetical protein LOC643314							122.0	124.0	124.0					1																	39876294		2014	4181	6195	SO:0001623	5_prime_UTR_variant	643314							g.chr1:39876294G>A			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.-52G>A	1.37:g.39876294G>A						MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.R119R	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	1119	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	Error:Variant_position_missing_in_O94854_after_alignment					E9PMC2|Q6ZSB2	Silent	SNP	ENST00000530275.1	37	c.357G>A																																																																																					0.478	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038	
ERICH3	127254	broad.mit.edu	37	1	75108729	75108729	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:75108729C>A	ENST00000326665.5	-	4	515	c.297G>T	c.(295-297)gaG>gaT	p.E99D		NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		99										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTGGATTCGCTCCTTCCTAG	0.323																																						uc001dgg.2																			0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(295-297)GAG>GAT		hypothetical protein LOC127254							100.0	89.0	93.0					1																	75108729		2203	4299	6502	SO:0001583	missense	127254							g.chr1:75108729C>A																												ENST00000326665.5:c.297G>T	1.37:g.75108729C>A	ENSP00000322609:p.Glu99Asp						p.E99D	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			4	516	-			99					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.297G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734982	0.48939	.	.	ENSG00000178965	ENST00000326665	T	0.22743	1.94	5.4	0.0809	0.14422	.	.	.	.	.	T	0.17152	0.0412	M	0.64997	1.995	0.80722	D	1	D	0.59767	0.986	P	0.56474	0.799	T	0.11203	-1.0597	9	0.56958	D	0.05	-19.778	3.8906	0.09117	0.1683:0.3516:0.0:0.4801	.	99	Q5RHP9	CA173_HUMAN	D	99	ENSP00000322609:E99D	ENSP00000322609:E99D	E	-	3	2	C1orf173	74881317	0.937000	0.31787	0.657000	0.29651	0.452000	0.32318	-0.027000	0.12371	0.360000	0.24265	-0.252000	0.11476	GAG		0.323	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
ZZZ3	26009	broad.mit.edu	37	1	78098001	78098001	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:78098001G>A	ENST00000370801.3	-	5	1514	c.1039C>T	c.(1039-1041)Cca>Tca	p.P347S	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	347					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P347S(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CCGGAGGCTGGCATACTCTCA	0.443																																						uc001dhq.2																			1	Substitution - Missense(1)		kidney(1)	ovary(4)|large_intestine(1)	5						c.(1039-1041)CCA>TCA		zinc finger, ZZ-type containing 3							181.0	165.0	170.0					1																	78098001		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78098001G>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1039C>T	1.37:g.78098001G>A	ENSP00000359837:p.Pro347Ser					ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.P347S|ZZZ3_uc001dhp.2_Missense_Mutation_p.P347S	p.P347S	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			5	1515	-			347					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.1039C>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	1.501	-0.552143	0.03996	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.4	5.4	0.78164	.	0.113130	0.64402	D	0.000009	T	0.22551	0.0544	N	0.21448	0.665	0.80722	D	1	B;B;B	0.12013	0.005;0.001;0.002	B;B;B	0.10450	0.003;0.002;0.005	T	0.13469	-1.0508	8	.	.	.	.	7.3643	0.26764	0.2017:0.0:0.7983:0.0	.	347;347;347	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	S	347	.	.	P	-	1	0	ZZZ3	77870589	1.000000	0.71417	0.378000	0.26068	0.018000	0.09664	4.196000	0.58407	2.714000	0.92807	0.650000	0.86243	CCA		0.443	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534	
ANKRD35	148741	broad.mit.edu	37	1	145558841	145558841	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:145558841C>T	ENST00000355594.4	+	7	547	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	ANKRD35_ENST00000544626.1_Silent_p.D134D	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	154								p.R154C(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCAGGATGGACGTACACCCCT	0.557																																					Melanoma(9;127 754 22988 51047)	uc001eob.1																			1	Substitution - Missense(1)		endometrium(1)	ovary(4)|skin(1)	5						c.(460-462)CGT>TGT		ankyrin repeat domain 35							128.0	121.0	123.0					1																	145558841		2203	4300	6503	SO:0001583	missense	148741							g.chr1:145558841C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.460C>T	1.37:g.145558841C>T	ENSP00000347802:p.Arg154Cys					NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Translation_Start_Site	p.R154C	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			7	568	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		154			ANK 4.		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.460C>T	CCDS919.1	.	.	.	.	.	.	.	.	.	.	c	18.50	3.638289	0.67130	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.66638	-0.22	5.38	3.44	0.39384	Ankyrin repeat-containing domain (4);	0.163679	0.26616	N	0.023381	T	0.70962	0.3284	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73007	-0.4118	10	0.54805	T	0.06	-6.2382	7.1285	0.25486	0.1675:0.7441:0.0:0.0884	.	154	Q8N283	ANR35_HUMAN	C	63;154	ENSP00000347802:R154C	ENSP00000347802:R154C	R	+	1	0	ANKRD35	144270198	1.000000	0.71417	0.991000	0.47740	0.919000	0.55068	1.127000	0.31357	1.280000	0.44463	-0.213000	0.12676	CGT		0.557	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698	
SPRR1A	6698	broad.mit.edu	37	1	152957774	152957774	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:152957774A>T	ENST00000368762.1	+	1	68	c.68A>T	c.(67-69)cAa>cTa	p.Q23L	SPRR1A_ENST00000307122.2_Missense_Mutation_p.Q23L			P35321	SPR1A_HUMAN	small proline-rich protein 1A	23	2 X 12 AA approximate repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGTGAAACAACCTTGCCAG	0.572																																						uc009wnu.1																			0					0						c.(67-69)CAA>CTA		small proline-rich protein 1A							128.0	127.0	128.0					1																	152957774		2203	4300	6503	SO:0001583	missense	6698				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152957774A>T	L05187	CCDS1032.1	1q21-q22	2008-02-05			ENSG00000169474	ENSG00000169474			11259	protein-coding gene	gene with protein product		182265				8325635	Standard	NM_005987		Approved		uc001faw.3	P35321	OTTHUMG00000014404	ENST00000368762.1:c.68A>T	1.37:g.152957774A>T	ENSP00000357751:p.Gln23Leu					SPRR1A_uc001faw.2_Missense_Mutation_p.Q23L	p.Q23L	NM_005987	NP_005978	P35321	SPR1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	146	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		23			2.|2 X 12 AA approximate repeats.		B1AN47|D3DV31|Q2M303|Q9UDG4	Missense_Mutation	SNP	ENST00000368762.1	37	c.68A>T	CCDS1032.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.683741	0.47991	.	.	ENSG00000169474	ENST00000307122;ENST00000368762	T;T	0.18810	2.19;2.19	5.5	3.18	0.36537	.	0.000000	0.34802	N	0.003668	T	0.05227	0.0139	.	.	.	0.25863	N	0.983799	B	0.09022	0.002	B	0.10450	0.005	T	0.27226	-1.0080	9	0.72032	D	0.01	-4.1716	4.3164	0.10995	0.7324:0.0:0.0921:0.1754	.	23	P35321	SPR1A_HUMAN	L	23	ENSP00000307340:Q23L;ENSP00000357751:Q23L	ENSP00000307340:Q23L	Q	+	2	0	SPRR1A	151224398	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.736000	0.47385	0.894000	0.36317	0.454000	0.30748	CAA		0.572	SPRR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040062.1	NM_005987	
C1orf116	79098	broad.mit.edu	37	1	207195575	207195575	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:207195575C>T	ENST00000359470.5	-	4	1783	c.1534G>A	c.(1534-1536)Ggc>Agc	p.G512S	C1orf116_ENST00000461135.2_Missense_Mutation_p.G266S	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	512						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AAGAAGGAGCCCTTTCCCAGA	0.567																																						uc001hfd.2																			0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1534-1536)GGC>AGC		specifically androgen-regulated protein isoform							35.0	37.0	36.0					1																	207195575		2203	4300	6503	SO:0001583	missense	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207195575C>T		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.1534G>A	1.37:g.207195575C>T	ENSP00000352447:p.Gly512Ser					C1orf116_uc009xcb.1_Missense_Mutation_p.G266S	p.G512S	NM_023938	NP_076427	Q9BW04	SARG_HUMAN			4	1793	-	Prostate(682;0.19)		512					C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	c.1534G>A	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	C	5.634	0.301581	0.10678	.	.	ENSG00000182795	ENST00000359470;ENST00000461135	T;T	0.07444	3.19;3.19	5.58	3.69	0.42338	.	1.065670	0.07171	N	0.852316	T	0.04634	0.0126	N	0.08118	0	0.24581	N	0.993874	B	0.16802	0.019	B	0.17722	0.019	T	0.46289	-0.9202	10	0.13108	T	0.6	-1.6876	6.978	0.24688	0.0:0.7036:0.0:0.2964	.	512	Q9BW04	SARG_HUMAN	S	512;266	ENSP00000352447:G512S;ENSP00000436862:G266S	ENSP00000352447:G512S	G	-	1	0	C1orf116	205262198	0.588000	0.26799	0.097000	0.21041	0.726000	0.41606	1.285000	0.33261	0.694000	0.31654	0.655000	0.94253	GGC		0.567	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115	
HIST3H3	8290	broad.mit.edu	37	1	228612678	228612678	+	Missense_Mutation	SNP	G	G	A	rs368511457		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:228612678G>A	ENST00000366696.1	-	1	348	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	117					telomere maintenance (GO:0000723)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				ATGGTGACCCGTTTGGCATGG	0.627																																						uc001hsx.1																			0					0						c.(349-351)CGG>TGG		histone cluster 3, H3		G	TRP/ARG	0,4406		0,0,2203	100.0	87.0	91.0		349	3.9	0.9	1		91	2,8598	1.2+/-3.3	0,2,4298	no	missense	HIST3H3	NM_003493.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	117/137	228612678	2,13004	2203	4300	6503	SO:0001583	missense	8290				nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:228612678G>A	Z49861	CCDS1572.1	1q42.13	2012-09-19	2006-10-11	2003-02-21	ENSG00000168148	ENSG00000168148		"""Histones / Replication-dependent"""	4778	protein-coding gene	gene with protein product		602820	"""H3 histone family, member T"", ""histone 3, H3"""	H3FT		8834248, 12408966	Standard	NM_003493		Approved	H3t, H3/g, H3.4	uc001hsx.1	Q16695	OTTHUMG00000040044	ENST00000366696.1:c.349C>T	1.37:g.228612678G>A	ENSP00000355657:p.Arg117Trp						p.R117W	NM_003493	NP_003484	Q16695	H31T_HUMAN			1	349	-		Prostate(94;0.0724)	117					B2R5K3|Q6FGU4	Missense_Mutation	SNP	ENST00000366696.1	37	c.349C>T	CCDS1572.1	.	.	.	.	.	.	.	.	.	.	g	9.592	1.126486	0.20959	0.0	2.33E-4	ENSG00000168148	ENST00000366696	T	0.68624	-0.34	3.89	3.89	0.44902	Histone-fold (2);Histone core (1);	0.000000	0.39475	N	0.001351	D	0.89511	0.6736	H	0.99961	5.07	0.36717	D	0.880965	D	0.89917	1.0	D	0.97110	1.0	D	0.92520	0.6024	10	0.87932	D	0	.	9.1576	0.37002	0.0:0.0:0.783:0.217	.	117	Q16695	H31T_HUMAN	W	117	ENSP00000355657:R117W	ENSP00000355657:R117W	R	-	1	2	HIST3H3	226679301	1.000000	0.71417	0.943000	0.38184	0.002000	0.02628	2.332000	0.43903	2.438000	0.82558	0.645000	0.84053	CGG		0.627	HIST3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096595.2	NM_003493	
HIST3H2A	92815	broad.mit.edu	37	1	228645127	228645127	+	Silent	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:228645127C>T	ENST00000366695.2	-	1	433	c.392G>A	c.(391-393)tGa>tAa	p.*131*	HIST3H2BB_ENST00000369160.2_5'Flank	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	0					nucleosome disassembly (GO:0006337)|UV-damage excision repair (GO:0070914)	extracellular vesicular exosome (GO:0070062)|nuclear nucleosome (GO:0000788)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				cgggcggccTCACTTGCCCTT	0.627																																						uc001hsy.2																			0				ovary(1)	1						c.(391-393)TGA>TAA		histone cluster 3, H2a							29.0	32.0	31.0					1																	228645127		2203	4299	6502	SO:0001819	synonymous_variant	92815				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228645127C>T	AY131974	CCDS1573.1	1q42.13	2011-01-27	2006-10-11		ENSG00000181218	ENSG00000181218		"""Histones / Replication-dependent"""	20507	protein-coding gene	gene with protein product		615015	"""histone 3, H2a"""			12408966	Standard	NM_033445		Approved	MGC3165	uc001hsy.3	Q7L7L0	OTTHUMG00000040046	ENST00000366695.2:c.392G>A	1.37:g.228645127C>T						HIST3H2BB_uc001hsz.2_5'Flank	p.*131*	NM_033445	NP_254280	Q7L7L0	H2A3_HUMAN			1	434	-		Prostate(94;0.183)	131					B2R4S4	Silent	SNP	ENST00000366695.2	37	c.392G>A	CCDS1573.1																																																																																				0.627	HIST3H2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096598.1	NM_033445	
OR2C3	81472	broad.mit.edu	37	1	247695195	247695195	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:247695195A>G	ENST00000366487.3	-	2	980	c.619T>C	c.(619-621)Ttt>Ctt	p.F207L	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGGACAACAAAGACAAAGCTG	0.532																																						uc009xgy.2																			0				ovary(1)|skin(1)	2						c.(619-621)TTT>CTT		olfactory receptor, family 2, subfamily C,							94.0	89.0	91.0					1																	247695195		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695195A>G	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.619T>C	1.37:g.247695195A>G	ENSP00000355443:p.Phe207Leu					C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.F207L	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	981	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	207			Helical; Name=5; (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.619T>C	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199325	0.38806	.	.	ENSG00000196242	ENST00000366487	T	0.00021	9.02	3.89	1.41	0.22369	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	U	0.001525	T	0.00073	0.0002	N	0.11845	0.185	0.09310	N	1	B	0.26445	0.149	B	0.24974	0.057	T	0.05954	-1.0854	10	0.37606	T	0.19	.	5.4393	0.16498	0.6298:0.209:0.0:0.1612	.	207	Q8N628	OR2C3_HUMAN	L	207	ENSP00000355443:F207L	ENSP00000355443:F207L	F	-	1	0	OR2C3	245761818	0.000000	0.05858	0.004000	0.12327	0.763000	0.43281	-1.303000	0.02743	0.140000	0.18849	0.528000	0.53228	TTT		0.532	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074	
IDE	3416	broad.mit.edu	37	10	94267958	94267958	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr10:94267958C>G	ENST00000265986.6	-	8	1121	c.1065G>C	c.(1063-1065)tgG>tgC	p.W355C		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	355					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	GAGTATTAACCCAGCCTGCAA	0.358																																						uc001kia.2																			0				ovary(2)|central_nervous_system(1)	3						c.(1063-1065)TGG>TGC		insulin-degrading enzyme isoform 1 precursor	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						130.0	139.0	136.0					10																	94267958		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94267958C>G	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.1065G>C	10.37:g.94267958C>G	ENSP00000265986:p.Trp355Cys						p.W355C	NM_004969	NP_004960	P14735	IDE_HUMAN			8	1141	-			355					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.1065G>C	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023019	0.75275	.	.	ENSG00000119912	ENST00000265986	T	0.09255	3.0	5.24	5.24	0.73138	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.49389	0.1554	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66697	-0.5858	10	0.87932	D	0	-5.0946	19.1951	0.93684	0.0:1.0:0.0:0.0	.	355	P14735	IDE_HUMAN	C	355	ENSP00000265986:W355C	ENSP00000265986:W355C	W	-	3	0	IDE	94257938	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.639000	0.83342	2.615000	0.88500	0.557000	0.71058	TGG		0.358	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969	
SLK	9748	broad.mit.edu	37	10	105762134	105762134	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr10:105762134C>A	ENST00000369755.3	+	9	1743	c.1198C>A	c.(1198-1200)Cat>Aat	p.H400N	SLK_ENST00000335753.4_Missense_Mutation_p.H400N	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	400	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TATTAATGAACATATTACCGA	0.388																																					NSCLC(111;540 1651 1927 4474 17706)	uc001kxo.1																			0				ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8						c.(1198-1200)CAT>AAT		serine/threonine kinase 2							130.0	139.0	136.0					10																	105762134		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105762134C>A		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1198C>A	10.37:g.105762134C>A	ENSP00000358770:p.His400Asn					SLK_uc001kxp.1_Missense_Mutation_p.H400N	p.H400N	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	9	1232	+		Colorectal(252;0.178)	400			Glu-rich.		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.1198C>A	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.591817	0.00864	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.67865	-0.29;-0.29	4.87	1.81	0.25067	Protein kinase-like domain (1);	0.599129	0.16944	N	0.193157	T	0.46521	0.1397	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19976	-1.0289	10	0.28530	T	0.3	.	3.5602	0.07880	0.1889:0.3485:0.3722:0.0903	.	400;400	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	N	400	ENSP00000336824:H400N;ENSP00000358770:H400N	ENSP00000336824:H400N	H	+	1	0	SLK	105752124	0.001000	0.12720	0.004000	0.12327	0.014000	0.08584	1.238000	0.32707	0.636000	0.30508	0.555000	0.69702	CAT		0.388	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	
SIRT3	23410	broad.mit.edu	37	11	233173	233173	+	Missense_Mutation	SNP	A	A	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr11:233173A>C	ENST00000382743.4	-	3	618	c.516T>G	c.(514-516)gaT>gaG	p.D172E	SIRT3_ENST00000532956.1_Missense_Mutation_p.D172E|SIRT3_ENST00000524564.1_Missense_Mutation_p.D108E|SIRT3_ENST00000529382.1_Missense_Mutation_p.D30E|SIRT3_ENST00000525319.1_Missense_Mutation_p.D91E|SIRT3_ENST00000528702.1_5'UTR	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	172	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		GGTACGGGAGATCGTACTGCT	0.532																																						uc001lok.3																			0				urinary_tract(1)	1						c.(514-516)GAT>GAG		sirtuin 3 isoform a							73.0	76.0	75.0					11																	233173		2203	4300	6503	SO:0001583	missense	23410				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr11:233173A>C	AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3"", ""sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"""			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.516T>G	11.37:g.233173A>C	ENSP00000372191:p.Asp172Glu					SIRT3_uc001loj.3_Missense_Mutation_p.D30E|SIRT3_uc010qvm.1_Missense_Mutation_p.D108E|SIRT3_uc010qvn.1_Missense_Mutation_p.D91E|SIRT3_uc010qvo.1_Missense_Mutation_p.D172E|SIRT3_uc010qvp.1_Missense_Mutation_p.D172E|SIRT3_uc010qvq.1_Missense_Mutation_p.D30E|SIRT3_uc009ybt.1_RNA	p.D172E	NM_012239	NP_036371	Q9NTG7	SIRT3_HUMAN		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)	3	550	-		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	172			Deacetylase sirtuin-type.		B7Z5U6|Q9Y6E8	Missense_Mutation	SNP	ENST00000382743.4	37	c.516T>G	CCDS7691.1	.	.	.	.	.	.	.	.	.	.	a	6.128	0.391816	0.11581	.	.	ENSG00000142082	ENST00000382743;ENST00000525319;ENST00000524564;ENST00000532956;ENST00000529382;ENST00000528469	T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3	5.51	0.334	0.15948	.	0.530450	0.20509	N	0.090926	T	0.14313	0.0346	L	0.50333	1.59	0.09310	N	1	B;B;B;B;B	0.20368	0.044;0.0;0.003;0.001;0.003	B;B;B;B;B	0.27076	0.076;0.002;0.011;0.002;0.004	T	0.24870	-1.0148	10	0.33141	T	0.24	-7.707	6.2367	0.20766	0.2883:0.1283:0.5834:0.0	.	172;172;91;108;172	E9PM75;B7Z7G4;E9PK80;E9PN58;Q9NTG7	.;.;.;.;SIRT3_HUMAN	E	172;91;108;172;30;30	ENSP00000372191:D172E;ENSP00000435464:D91E;ENSP00000432937:D108E;ENSP00000433077:D172E;ENSP00000437216:D30E;ENSP00000432857:D30E	ENSP00000372191:D172E	D	-	3	2	SIRT3	223173	0.951000	0.32395	0.001000	0.08648	0.019000	0.09904	1.716000	0.37981	-0.197000	0.10350	-0.922000	0.02736	GAT		0.532	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3		
OR51M1	390059	broad.mit.edu	37	11	5411176	5411176	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr11:5411176C>G	ENST00000328611.3	+	1	570	c.548C>G	c.(547-549)tCt>tGt	p.S183C	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	183					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACTGTGGATCTGTGGTCCTC	0.517																																						uc010qzc.1																			0					0						c.(547-549)TCT>TGT		olfactory receptor, family 51, subfamily M,							191.0	182.0	185.0					11																	5411176		2005	4204	6209	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5411176C>G	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.548C>G	11.37:g.5411176C>G	ENSP00000333196:p.Ser183Cys					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.S183C	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	548	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	183					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.548C>G	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326733	0.24080	.	.	ENSG00000184698	ENST00000328611	T	0.00025	8.96	5.26	0.386	0.16254	GPCR, rhodopsin-like superfamily (1);	1.326570	0.05928	N	0.634633	T	0.00384	0.0012	M	0.90483	3.12	0.09310	N	1	D	0.55385	0.971	P	0.58391	0.838	T	0.42749	-0.9433	10	0.87932	D	0	.	4.4949	0.11831	0.263:0.5285:0.1279:0.0806	.	172	Q9H341	O51M1_HUMAN	C	183	ENSP00000333196:S183C	ENSP00000333196:S183C	S	+	2	0	OR51M1	5367752	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.971000	0.03806	0.212000	0.20703	0.655000	0.94253	TCT		0.517	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756	
VWCE	220001	broad.mit.edu	37	11	61048379	61048379	+	Silent	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr11:61048379C>T	ENST00000335613.5	-	8	1502	c.1116G>A	c.(1114-1116)agG>agA	p.R372R		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	372						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ACTCAGGGCCCCTGGGTGAGG	0.677																																						uc001nra.2																			0				ovary(1)	1						c.(1114-1116)AGG>AGA		von Willebrand factor C and EGF domains							10.0	13.0	12.0					11																	61048379		2198	4292	6490	SO:0001819	synonymous_variant	220001					extracellular region	calcium ion binding	g.chr11:61048379C>T	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1116G>A	11.37:g.61048379C>T						VWCE_uc001nrb.2_RNA	p.R372R	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			8	1395	-			372					A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	ENST00000335613.5	37	c.1116G>A	CCDS8002.1																																																																																				0.677	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718	
SCNN1A	6337	broad.mit.edu	37	12	6463925	6463925	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:6463925G>T	ENST00000228916.2	-	7	1331	c.1233C>A	c.(1231-1233)taC>taA	p.Y411*	SCNN1A_ENST00000543768.1_Nonsense_Mutation_p.Y434*|SCNN1A_ENST00000538979.1_5'UTR|SCNN1A_ENST00000358945.3_Nonsense_Mutation_p.Y411*|SCNN1A_ENST00000540037.1_Nonsense_Mutation_p.Y111*|SCNN1A_ENST00000360168.3_Nonsense_Mutation_p.Y470*|SCNN1A_ENST00000396966.2_Nonsense_Mutation_p.Y411*	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	411					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCTGCTGTGTGTACTTTGAAG	0.557																																						uc001qnx.2																			0					0						c.(1231-1233)TAC>TAA		sodium channel, nonvoltage-gated 1 alpha isoform	Amiloride(DB00594)|Triamterene(DB00384)						109.0	107.0	108.0					12																	6463925		2203	4300	6503	SO:0001587	stop_gained	6337				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6463925G>T	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1233C>A	12.37:g.6463925G>T	ENSP00000228916:p.Tyr411*					SCNN1A_uc001qnv.2_Nonsense_Mutation_p.Y111*|SCNN1A_uc001qnw.2_Nonsense_Mutation_p.Y470*|SCNN1A_uc010sfb.1_Nonsense_Mutation_p.Y434*	p.Y411*	NM_001038	NP_001029	P37088	SCNNA_HUMAN			7	1522	-			411			Extracellular (By similarity).		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Nonsense_Mutation	SNP	ENST00000228916.2	37	c.1233C>A	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	G	42	9.511963	0.99192	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000396966;ENST00000543768	.	.	.	5.17	-1.97	0.07503	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-36.5401	11.2808	0.49192	0.4786:0.0:0.5214:0.0	.	.	.	.	X	470;411;111;411;411;434	.	ENSP00000228916:Y411X	Y	-	3	2	SCNN1A	6334186	1.000000	0.71417	0.307000	0.25127	0.719000	0.41307	0.947000	0.29082	-0.268000	0.09312	-0.339000	0.08088	TAC		0.557	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1		
CLEC1A	51267	broad.mit.edu	37	12	10224014	10224014	+	Missense_Mutation	SNP	C	C	T	rs147882348		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:10224014C>T	ENST00000315330.4	-	6	823	c.761G>A	c.(760-762)cGt>cAt	p.R254H	CLEC1A_ENST00000457018.2_Missense_Mutation_p.R221H|CLEC1A_ENST00000420265.2_Missense_Mutation_p.R162H	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	254	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						ACAGACACAACGCTTCAATTC	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		18251	0.001		0.0	False		,,,				2504	0.0					uc001qxb.2																			0				ovary(1)|central_nervous_system(1)	2						c.(760-762)CGT>CAT		C-type lectin-like receptor-1							203.0	180.0	188.0					12																	10224014		2203	4300	6503	SO:0001583	missense	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10224014C>T	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.761G>A	12.37:g.10224014C>T	ENSP00000326407:p.Arg254His					CLEC1A_uc009zhf.2_Missense_Mutation_p.R166H|CLEC1A_uc001qxc.2_Missense_Mutation_p.R166H|CLEC1A_uc001qxd.2_Missense_Mutation_p.R211H|CLEC1A_uc010sgx.1_Missense_Mutation_p.R152H	p.R254H	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN			6	845	-			254			C-type lectin.|Extracellular (Potential).		Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	c.761G>A	CCDS8612.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.08	2.429523	0.43122	.	.	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265	T;T;T	0.19532	2.14;2.14;2.14	5.33	4.41	0.53225	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.143817	0.32175	N	0.006462	T	0.32164	0.0820	L	0.39397	1.21	0.31792	N	0.629471	P;D;B	0.89917	0.922;1.0;0.449	B;D;B	0.77004	0.229;0.989;0.208	T	0.20207	-1.0282	10	0.16896	T	0.51	.	11.0975	0.48155	0.185:0.815:0.0:0.0	.	162;221;254	E7ESV9;E9PFB4;Q8NC01	.;.;CLC1A_HUMAN	H	254;221;162	ENSP00000326407:R254H;ENSP00000415048:R221H;ENSP00000417010:R162H	ENSP00000326407:R254H	R	-	2	0	CLEC1A	10115281	0.964000	0.33143	0.933000	0.37362	0.107000	0.19398	1.452000	0.35156	1.164000	0.42652	0.563000	0.77884	CGT		0.488	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511	
KRT18	3875	broad.mit.edu	37	12	53343221	53343221	+	Silent	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:53343221C>T	ENST00000388835.3	+	1	474	c.264C>T	c.(262-264)aaC>aaT	p.N88N	KRT8_ENST00000549198.1_Intron|KRT8_ENST00000546897.1_Intron|KRT8_ENST00000552551.1_Intron|AC107016.2_ENST00000581256.1_RNA|KRT18_ENST00000388837.2_Silent_p.N88N|KRT18_ENST00000550600.1_Silent_p.N88N	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	88	Coil 1A.|Interaction with TRADD.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						AAAGCCTGAACGACCGCCTGG	0.647																																						uc001sbe.2																			0				skin(1)	1						c.(262-264)AAC>AAT		keratin 18							26.0	31.0	29.0					12																	53343221		2169	4246	6415	SO:0001819	synonymous_variant	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53343221C>T		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.264C>T	12.37:g.53343221C>T						KRT18_uc009zmn.1_Silent_p.N88N|KRT18_uc001sbf.1_Translation_Start_Site|KRT18_uc001sbg.2_Silent_p.N88N|KRT18_uc009zmo.2_Silent_p.N88N|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_Intron	p.N88N	NM_199187	NP_954657	P05783	K1C18_HUMAN			2	333	+			88			Coil 1A.|Rod.|Interaction with TRADD.|Necessary for interaction with PNN.		Q53G38|Q5U0N8|Q9BW26	Silent	SNP	ENST00000388835.3	37	c.264C>T	CCDS31809.1																																																																																				0.647	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187	
PTPRR	5801	broad.mit.edu	37	12	71094985	71094985	+	Silent	SNP	G	G	T	rs368823191		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:71094985G>T	ENST00000283228.2	-	7	1578	c.1126C>A	c.(1126-1128)Cga>Aga	p.R376R	PTPRR_ENST00000378778.1_Silent_p.R170R|PTPRR_ENST00000342084.4_Silent_p.R264R|PTPRR_ENST00000549308.1_Silent_p.R131R|PTPRR_ENST00000440835.2_Silent_p.R131R	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	376					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GTGAGAATTCGGCTGGCTGAC	0.458																																						uc001swi.1																			0				skin(2)|ovary(1)	3						c.(1126-1128)CGA>AGA		protein tyrosine phosphatase, receptor type, R							171.0	154.0	160.0					12																	71094985		2203	4300	6503	SO:0001819	synonymous_variant	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71094985G>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1126C>A	12.37:g.71094985G>T						PTPRR_uc001swh.1_Silent_p.R131R|PTPRR_uc009zrs.2_Silent_p.R225R|PTPRR_uc010stq.1_Silent_p.R264R|PTPRR_uc010str.1_Silent_p.R225R	p.R376R	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	7	1542	-			376			Cytoplasmic (Potential).		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	ENST00000283228.2	37	c.1126C>A	CCDS8998.1																																																																																				0.458	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849	
WSCD2	9671	broad.mit.edu	37	12	108600179	108600179	+	Splice_Site	SNP	C	C	T	rs567916978		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:108600179C>T	ENST00000332082.4	+	4	1314	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	WSCD2_ENST00000261400.3_Splice_Site_p.R166W|WSCD2_ENST00000549903.1_Splice_Site_p.R166W|WSCD2_ENST00000547525.1_Splice_Site_p.R166W			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	166	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTGTGCTGAACGGTAGGGTCC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		21946	0.0		0.0	False		,,,				2504	0.001					uc001tms.2																			0				ovary(1)|large_intestine(1)|breast(1)	3						c.(496-498)CGG>TGG		WSC domain containing 2							56.0	57.0	56.0					12																	108600179		1953	4136	6089	SO:0001630	splice_region_variant	9671					integral to membrane		g.chr12:108600179C>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.497+1C>T	12.37:g.108600179C>T						WSCD2_uc001tmt.2_Missense_Mutation_p.R166W	p.R166W	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			3	1240	+			166			WSC 1.		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.496C>T	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910939	0.72983	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000551638;ENST00000332082;ENST00000549903	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	5.29	4.38	0.52667	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.72708	0.3494	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76052	-0.3100	10	0.56958	D	0.05	-28.5793	13.7944	0.63162	0.1546:0.8454:0.0:0.0	.	166	Q2TBF2	WSCD2_HUMAN	W	166;166;13;166;166	ENSP00000448047:R166W;ENSP00000261400:R166W;ENSP00000446744:R13W;ENSP00000331933:R166W;ENSP00000447272:R166W	ENSP00000261400:R166W	R	+	1	2	WSCD2	107124309	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.771000	0.55318	1.193000	0.43086	0.650000	0.86243	CGG		0.527	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653	Missense_Mutation
TMEM132D	121256	broad.mit.edu	37	12	130184469	130184469	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:130184469C>T	ENST00000422113.2	-	2	1180	c.854G>A	c.(853-855)cGt>cAt	p.R285H	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	285					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTTGTCCAGACGCAGTTCTCT	0.522																																						uc009zyl.1																			0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(853-855)CGT>CAT		transmembrane protein 132D precursor							100.0	96.0	97.0					12																	130184469		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184469C>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.854G>A	12.37:g.130184469C>T	ENSP00000408581:p.Arg285His						p.R285H	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	1182	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	285			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.854G>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773186	0.31411	.	.	ENSG00000151952	ENST00000422113	T	0.13538	2.58	5.17	3.32	0.38043	.	0.309908	0.25848	N	0.027907	T	0.16981	0.0408	M	0.75447	2.3	0.21984	N	0.999434	B	0.26002	0.139	B	0.19946	0.027	T	0.10823	-1.0613	9	.	.	.	-12.9116	12.286	0.54793	0.0:0.8544:0.0:0.1456	.	285	Q14C87	T132D_HUMAN	H	285	ENSP00000408581:R285H	.	R	-	2	0	TMEM132D	128750422	0.009000	0.17119	0.833000	0.33012	0.032000	0.12392	0.261000	0.18442	1.294000	0.44707	0.650000	0.86243	CGT		0.522	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
TMEM255B	348013	broad.mit.edu	37	13	114502323	114502323	+	Silent	SNP	C	C	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr13:114502323C>G	ENST00000375353.3	+	5	381	c.354C>G	c.(352-354)ccC>ccG	p.P118P		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	118						integral component of membrane (GO:0016021)											AACCGAGGCCCCTCACCACGG	0.542																																						uc001vuh.2																			0					0						c.(352-354)CCC>CCG		family with sequence similarity 70, member B							107.0	92.0	97.0					13																	114502323		2203	4300	6503	SO:0001819	synonymous_variant	348013					integral to membrane		g.chr13:114502323C>G	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member B"""	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.354C>G	13.37:g.114502323C>G							p.P118P	NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	all cancers(43;0.181)		5	381	+	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	118						Silent	SNP	ENST00000375353.3	37	c.354C>G	CCDS45071.1																																																																																				0.542	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614	
OR11H6	122748	broad.mit.edu	37	14	20692418	20692418	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr14:20692418C>A	ENST00000315519.2	+	1	628	c.550C>A	c.(550-552)Ctt>Att	p.L184I		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TATCTCCCAACTTCCCTTCTG	0.507																																						uc010tlc.1																			0				ovary(2)|skin(1)	3						c.(550-552)CTT>ATT		olfactory receptor, family 11, subfamily H,							95.0	92.0	93.0					14																	20692418		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692418C>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.550C>A	14.37:g.20692418C>A	ENSP00000319071:p.Leu184Ile						p.L184I	NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	550	+	all_cancers(95;0.00108)		184			Extracellular (Potential).		Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.550C>A	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071990	0.36566	.	.	ENSG00000176219	ENST00000315519	T	0.00285	8.3	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000352	T	0.00580	0.0019	M	0.84948	2.725	0.26123	N	0.980522	P	0.45902	0.868	P	0.52758	0.708	T	0.36648	-0.9739	10	0.66056	D	0.02	.	15.4745	0.75468	0.0:1.0:0.0:0.0	.	184	Q8NGC7	O11H6_HUMAN	I	184	ENSP00000319071:L184I	ENSP00000319071:L184I	L	+	1	0	OR11H6	19762258	0.006000	0.16342	1.000000	0.80357	0.223000	0.24884	0.588000	0.23924	2.506000	0.84524	0.289000	0.19496	CTT		0.507	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1		
RPL10L	140801	broad.mit.edu	37	14	47120841	47120841	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr14:47120841delG	ENST00000298283.3	-	1	187	c.99delC	c.(97-99)atcfs	p.I33fs		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	33					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)	p.I33I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CCAGGTCAAAGATGCGGATCT	0.537																																						uc001wwg.2																			1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)	1						c.(97-99)ATCfs		ribosomal protein L10-like protein							107.0	109.0	108.0					14																	47120841		2203	4300	6503	SO:0001589	frameshift_variant	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120841delG	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.99delC	14.37:g.47120841delG	ENSP00000298283:p.Ile33fs						p.I33fs	NM_080746	NP_542784	Q96L21	RL10L_HUMAN			1	188	-			33					Q8IUD1	Frame_Shift_Del	DEL	ENST00000298283.3	37	c.99delC	CCDS32071.1																																																																																				0.537	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1		
MAPKBP1	23005	broad.mit.edu	37	15	42106769	42106769	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr15:42106769G>A	ENST00000456763.2	+	11	1216	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	MAPKBP1_ENST00000457542.2_Silent_p.A334A|MAPKBP1_ENST00000221214.6_Intron|MAPKBP1_ENST00000260357.7_Silent_p.A222A|MAPKBP1_ENST00000514566.1_Silent_p.A334A	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	340										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTGGAGTGGCGAATGCCAGGT	0.488																																						uc001zok.3																			0				central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(1018-1020)GCG>GCA		mitogen-activated protein kinase binding protein							212.0	177.0	189.0					15																	42106769		2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42106769G>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1020G>A	15.37:g.42106769G>A						MAPKBP1_uc001zoj.3_Silent_p.A334A|MAPKBP1_uc010bcj.2_Intron|MAPKBP1_uc010bci.2_Silent_p.A334A|MAPKBP1_uc010udb.1_Silent_p.A222A|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Intron	p.A340A	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	11	1306	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	340					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.1020G>A	CCDS45239.1																																																																																				0.488	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	
MAPKBP1	23005	broad.mit.edu	37	15	42111074	42111074	+	Missense_Mutation	SNP	G	G	A	rs534654016		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr15:42111074G>A	ENST00000456763.2	+	21	2424	c.2228G>A	c.(2227-2229)cGt>cAt	p.R743H	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.R737H|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R620H|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R576H|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R737H	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	743								p.R737H(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ATGAGGCAGCGTCTGGCCGAG	0.602																																						uc001zok.3																			1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(2227-2229)CGT>CAT		mitogen-activated protein kinase binding protein							63.0	55.0	58.0					15																	42111074		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42111074G>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2228G>A	15.37:g.42111074G>A	ENSP00000393099:p.Arg743His					MAPKBP1_uc001zoj.3_Missense_Mutation_p.R737H|MAPKBP1_uc010bcj.2_Missense_Mutation_p.R244H|MAPKBP1_uc010bci.2_Missense_Mutation_p.R737H|MAPKBP1_uc010udb.1_Missense_Mutation_p.R576H|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.R244H	p.R743H	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	21	2514	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	743					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.2228G>A	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	23.5	4.426476	0.83667	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.51574	0.9;1.01;0.7;0.95;1.06	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.58892	0.2154	L	0.34521	1.04	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.812;1.0;1.0;1.0	D;B;D;D;D	0.91635	0.999;0.388;0.996;0.998;0.999	T	0.49551	-0.8928	10	0.20046	T	0.44	-12.2992	19.3625	0.94446	0.0:0.0:1.0:0.0	.	576;620;737;743;737	F8WC21;O60336-3;O60336-2;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	H	737;620;576;743;737	ENSP00000397570:R737H;ENSP00000221214:R620H;ENSP00000260357:R576H;ENSP00000393099:R743H;ENSP00000426154:R737H	ENSP00000221214:R620H	R	+	2	0	MAPKBP1	39898366	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.577000	0.98196	2.673000	0.90976	0.556000	0.70494	CGT		0.602	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	
ATP8B4	79895	broad.mit.edu	37	15	50339659	50339659	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr15:50339659A>T	ENST00000284509.6	-	4	231	c.90T>A	c.(88-90)gaT>gaA	p.D30E	ATP8B4_ENST00000558959.1_5'Flank|ATP8B4_ENST00000559829.1_Missense_Mutation_p.D30E	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	30						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D30D(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GGATACGATTATCCTGGAAAA	0.373																																						uc001zxu.2																			1	Substitution - coding silent(1)	p.D30D(1)	breast(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(88-90)GAT>GAA		ATPase class I type 8B member 4							86.0	89.0	88.0					15																	50339659		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50339659A>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.90T>A	15.37:g.50339659A>T	ENSP00000284509:p.Asp30Glu					ATP8B4_uc010ber.2_5'UTR|ATP8B4_uc010ufd.1_5'UTR|ATP8B4_uc010ufe.1_RNA	p.D30E	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	4	232	-		all_lung(180;0.00183)	30			Cytoplasmic (Potential).		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.90T>A	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.923065	0.52653	.	.	ENSG00000104043	ENST00000284509	T	0.79033	-1.23	5.3	-1.59	0.08453	.	0.192865	0.43110	N	0.000618	T	0.62588	0.2440	L	0.42008	1.315	0.43095	D	0.994773	B	0.30179	0.271	B	0.29524	0.103	T	0.44143	-0.9347	10	0.36615	T	0.2	.	5.7141	0.17950	0.5408:0.1376:0.3216:0.0	.	30	Q8TF62	AT8B4_HUMAN	E	30	ENSP00000284509:D30E	ENSP00000284509:D30E	D	-	3	2	ATP8B4	48126951	1.000000	0.71417	0.995000	0.50966	0.943000	0.58893	0.840000	0.27600	-0.301000	0.08882	-0.353000	0.07706	GAT		0.373	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
PTX4	390667	broad.mit.edu	37	16	1536134	1536134	+	Missense_Mutation	SNP	C	C	T	rs149572258		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr16:1536134C>T	ENST00000447419.2	-	3	1268	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N	PTX4_ENST00000293922.1_Missense_Mutation_p.D410N|PTX4_ENST00000440447.2_3'UTR			Q96A99	PTX4_HUMAN	pentraxin 4, long	415	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TCGGAGCTGTCGAATCCGCCC	0.652																																						uc010uvf.1																			0					0						c.(1228-1230)GAC>AAC		neuronal pentraxin II-like							59.0	57.0	58.0					16																	1536134		2199	4300	6499	SO:0001583	missense	390667					extracellular region	metal ion binding	g.chr16:1536134C>T		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.1243G>A	16.37:g.1536134C>T	ENSP00000445277:p.Asp415Asn						p.D410N	NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN			3	1228	-			415			Pentaxin.			Missense_Mutation	SNP	ENST00000447419.2	37	c.1228G>A		.	.	.	.	.	.	.	.	.	.	C	17.52	3.409570	0.62399	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.08546	3.08;3.08	4.93	4.93	0.64822	.	0.268623	0.32836	N	0.005583	T	0.13372	0.0324	M	0.70275	2.135	0.58432	D	0.999998	P	0.36144	0.539	B	0.34346	0.18	T	0.01574	-1.1321	10	0.87932	D	0	.	15.6732	0.77295	0.0:1.0:0.0:0.0	.	410	Q96A99-2	.	N	415;410	ENSP00000445277:D415N;ENSP00000293922:D410N	ENSP00000293922:D410N	D	-	1	0	PTX4	1476135	0.961000	0.32948	0.987000	0.45799	0.021000	0.10359	1.821000	0.39041	2.569000	0.86673	0.563000	0.77884	GAC		0.652	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658	
SRRM2	23524	broad.mit.edu	37	16	2817214	2817214	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr16:2817214G>C	ENST00000301740.8	+	11	7234	c.6685G>C	c.(6685-6687)Gcc>Ccc	p.A2229P	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2229	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGCCAACCTTGCCAGCAGGAT	0.612																																						uc002crk.2																			0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(6685-6687)GCC>CCC		splicing coactivator subunit SRm300							53.0	60.0	58.0					16																	2817214		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817214G>C	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6685G>C	16.37:g.2817214G>C	ENSP00000301740:p.Ala2229Pro					SRRM2_uc002crj.1_Missense_Mutation_p.A2133P|SRRM2_uc002crl.1_Missense_Mutation_p.A2229P|SRRM2_uc010bsu.1_Missense_Mutation_p.A2133P	p.A2229P	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	7234	+			2229			Ala-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.6685G>C	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410402	0.42715	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.79454	-1.27	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000005	T	0.82121	0.4968	L	0.32530	0.975	0.38378	D	0.945041	D	0.71674	0.998	D	0.80764	0.994	T	0.82216	-0.0567	10	0.40728	T	0.16	-12.825	15.5894	0.76512	0.0:0.0:1.0:0.0	.	2229	Q9UQ35	SRRM2_HUMAN	P	2229;1481	ENSP00000301740:A2229P	ENSP00000301740:A2229P	A	+	1	0	SRRM2	2757215	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.707000	0.54838	2.761000	0.94854	0.655000	0.94253	GCC		0.612	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
DNAH3	55567	broad.mit.edu	37	16	21033373	21033373	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr16:21033373C>T	ENST00000261383.3	-	40	5695	c.5696G>A	c.(5695-5697)cGc>cAc	p.R1899H	DNAH3_ENST00000415178.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1899	AAA 2. {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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAATGAAGGCGACCAAATTC	0.458																																						uc010vbe.1																			0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(5695-5697)CGC>CAC		dynein, axonemal, heavy chain 3							121.0	98.0	106.0					16																	21033373		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21033373C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5696G>A	16.37:g.21033373C>T	ENSP00000261383:p.Arg1899His						p.R1899H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	40	5696	-			1899			AAA 2 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.5696G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116151	0.37339	.	.	ENSG00000158486	ENST00000261383	T	0.27720	1.65	4.92	2.96	0.34315	.	0.415829	0.25094	N	0.033196	T	0.33235	0.0856	M	0.78801	2.425	0.32317	N	0.562965	B	0.21821	0.061	B	0.12156	0.007	T	0.38607	-0.9653	10	0.54805	T	0.06	.	9.5891	0.39534	0.0:0.749:0.0:0.251	.	1899	Q8TD57	DYH3_HUMAN	H	1899	ENSP00000261383:R1899H	ENSP00000261383:R1899H	R	-	2	0	DNAH3	20940874	0.627000	0.27129	0.157000	0.22605	0.985000	0.73830	1.152000	0.31663	0.486000	0.27676	0.462000	0.41574	CGC		0.458	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
POLR2A	5430	broad.mit.edu	37	17	7404279	7404279	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:7404279G>A	ENST00000322644.6	+	12	2301	c.1902G>A	c.(1900-1902)gaG>gaA	p.E634E		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	634					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				agaatggggagctgatcatgg	0.557																																						uc002ghf.3																			0				pancreas(1)	1						c.(1900-1902)GAG>GAA		DNA-directed RNA polymerase II A							229.0	186.0	201.0					17																	7404279		2203	4300	6503	SO:0001819	synonymous_variant	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7404279G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.1902G>A	17.37:g.7404279G>A							p.E634E	NM_000937	NP_000928	P24928	RPB1_HUMAN			12	2136	+		Prostate(122;0.173)	634					A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	c.1902G>A	CCDS32548.1																																																																																				0.557	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937	
TP53	7157	broad.mit.edu	37	17	7578541	7578541	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:7578541A>G	ENST00000269305.4	-	5	578	c.389T>C	c.(388-390)cTc>cCc	p.L130P	TP53_ENST00000420246.2_Missense_Mutation_p.L130P|TP53_ENST00000359597.4_Missense_Mutation_p.L130P|TP53_ENST00000445888.2_Missense_Mutation_p.L130P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.L130P|TP53_ENST00000413465.2_Missense_Mutation_p.L130P	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	130	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L130R(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.L130H(3)|p.L130fs*41(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.Y126fs*18(1)|p.L130P(1)|p.S127_Q136del10(1)|p.L130fs*39(1)|p.L130_M133delLNKM(1)|p.A129_N131delALN(1)|p.L130fs*16(1)|p.L130del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CATCTTGTTGAGGGCAGGGGA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		43	Deletion - In frame(14)|Substitution - Missense(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Insertion - Frameshift(1)|Complex - frameshift(1)	p.L130V(11)|p.L130F(7)|p.L130R(7)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.L130L(4)|p.L130H(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.N131fs*27(2)|p.L130fs*41(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.L130P(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.L130fs*40(1)|p.S127fs*36(1)|p.L130del(1)	central_nervous_system(5)|breast(5)|upper_aerodigestive_tract(4)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|ovary(3)|adrenal_gland(2)|stomach(2)|urinary_tract(2)|lung(2)|oesophagus(2)|liver(2)|biliary_tract(1)|endometrium(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(388-390)CTC>CCC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							45.0	45.0	45.0					17																	7578541		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578541A>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.389T>C	17.37:g.7578541A>G	ENSP00000269305:p.Leu130Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.L130P|TP53_uc002gih.2_Missense_Mutation_p.L130P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.L130P|TP53_uc010cni.1_Missense_Mutation_p.L130P|TP53_uc002gij.2_Missense_Mutation_p.L130P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.L37P|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.L91P	p.L130P	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	583	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	130		L -> H (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.389T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.540535	0.65085	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99878	-7.42;-7.42;-7.42;-7.42;-7.42;-7.42;-7.42;-7.42	5.48	4.39	0.52855	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99859	0.9934	M	0.91300	3.195	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;1.0;1.0;0.98;1.0;1.0;1.0	D	0.97125	0.9814	10	0.87932	D	0	-29.0594	10.3045	0.43672	0.8522:0.0:0.0:0.1478	.	91;130;130;37;130;130;130	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	130;130;130;130;130;130;119;37;37;130	ENSP00000410739:L130P;ENSP00000352610:L130P;ENSP00000269305:L130P;ENSP00000398846:L130P;ENSP00000391127:L130P;ENSP00000391478:L130P;ENSP00000423862:L37P;ENSP00000424104:L130P	ENSP00000269305:L130P	L	-	2	0	TP53	7519266	1.000000	0.71417	0.950000	0.38849	0.757000	0.42996	9.240000	0.95396	0.993000	0.38866	-0.336000	0.08194	CTC		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
GID4	79018	broad.mit.edu	37	17	17943061	17943061	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:17943061G>A	ENST00000268719.4	+	1	456	c.283G>A	c.(283-285)Ggt>Agt	p.G95S	ATPAF2_ENST00000585101.1_5'Flank|GID4_ENST00000376345.3_Missense_Mutation_p.G95S|ATPAF2_ENST00000474627.3_5'Flank	NM_024052.4	NP_076957.3	Q8IVV7	GID4_HUMAN	GID complex subunit 4	95	Pro-rich.																CCCGCCGGCCGGTGCCTCCGC	0.766																																						uc002gsg.1																			0				skin(1)	1						c.(283-285)GGT>AGT		hypothetical protein LOC79018							4.0	5.0	5.0					17																	17943061		2018	3854	5872	SO:0001583	missense	79018							g.chr17:17943061G>A	AK127580	CCDS11190.1	17p11.2	2013-07-31	2013-07-31	2012-07-20	ENSG00000141034	ENSG00000141034			28453	protein-coding gene	gene with protein product	"""vacuolar import and degradation 24"""		"""chromosome 17 open reading frame 39"", ""GID complex subunit 4, VID24 homolog (S. cerevisiae)"""	C17orf39		11997338	Standard	NM_024052		Approved	VID24	uc002gsg.1	Q8IVV7	OTTHUMG00000059398	ENST00000268719.4:c.283G>A	17.37:g.17943061G>A	ENSP00000268719:p.Gly95Ser					ATPAF2_uc002gsd.1_5'Flank|ATPAF2_uc002gse.1_5'Flank|ATPAF2_uc002gsf.1_5'Flank|ATPAF2_uc010vxf.1_5'Flank	p.G95S	NM_024052	NP_076957	Q8IVV7	CQ039_HUMAN			1	451	+	all_neural(463;0.228)		95			Pro-rich.		Q8TEB5|Q9BW50	Missense_Mutation	SNP	ENST00000268719.4	37	c.283G>A	CCDS11190.1	.	.	.	.	.	.	.	.	.	.	G	7.664	0.685628	0.14973	.	.	ENSG00000141034	ENST00000268719;ENST00000376345	.	.	.	3.94	3.94	0.45596	.	0.444911	0.21671	N	0.070880	T	0.22704	0.0548	N	0.14661	0.345	0.37642	D	0.922093	P	0.46912	0.886	B	0.32533	0.147	T	0.14254	-1.0479	9	0.13853	T	0.58	-3.0565	11.762	0.51910	0.0:0.1786:0.8214:0.0	.	95	Q8IVV7	CQ039_HUMAN	S	95;12	.	ENSP00000268719:G95S	G	+	1	0	C17orf39	17883786	0.999000	0.42202	1.000000	0.80357	0.370000	0.29829	2.854000	0.48325	2.022000	0.59522	0.555000	0.69702	GGT		0.766	GID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132071.2	NM_024052	
KCNJ12	3768	broad.mit.edu	37	17	21319772	21319772	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:21319772A>T	ENST00000583088.1	+	3	2013	c.1118A>T	c.(1117-1119)aAc>aTc	p.N373I	KCNJ12_ENST00000331718.5_Missense_Mutation_p.N373I	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	373					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCCAGCGCCAACTCCTTCTGC	0.622										Prostate(3;0.18)																												uc002gyv.1																			0				ovary(3)|skin(1)	4						c.(1117-1119)AAC>ATC		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						90.0	84.0	86.0					17																	21319772		2203	4300	6503	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319772A>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1118A>T	17.37:g.21319772A>T	ENSP00000463778:p.Asn373Ile	Prostate(3;0.18)					p.N373I	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1823	+			373			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.1118A>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.914810	0.52546	.	.	ENSG00000184185	ENST00000331718	D	0.93604	-3.25	5.65	-0.702	0.11265	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.424839	0.28538	N	0.014994	D	0.94305	0.8170	M	0.68317	2.08	0.49051	D	0.999741	P	0.42620	0.785	P	0.59357	0.856	D	0.90639	0.4573	10	0.38643	T	0.18	.	9.9258	0.41492	0.5916:0.0:0.4084:0.0	.	373	Q14500	IRK12_HUMAN	I	373	ENSP00000328150:N373I	ENSP00000328150:N373I	N	+	2	0	KCNJ12	21260365	1.000000	0.71417	0.795000	0.32087	0.542000	0.35054	2.893000	0.48633	-0.378000	0.07918	-0.263000	0.10527	AAC		0.622	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
ACACA	31	broad.mit.edu	37	17	35614745	35614745	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:35614745C>T	ENST00000394406.2	-	14	1785	c.1595G>A	c.(1594-1596)cGc>cAc	p.R532H	ACACA_ENST00000353139.5_Missense_Mutation_p.R569H|ACACA_ENST00000335166.5_Missense_Mutation_p.R454H|ACACA_ENST00000360679.3_Missense_Mutation_p.R474H	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	532	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTTATTGCTGCGGAAATTTAG	0.413																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2																			0				large_intestine(1)|ovary(1)	2						c.(1594-1596)CGC>CAC		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						90.0	87.0	88.0					17																	35614745		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35614745C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1595G>A	17.37:g.35614745C>T	ENSP00000377928:p.Arg532His					ACACA_uc002hnk.2_Missense_Mutation_p.R454H|ACACA_uc002hnl.2_Missense_Mutation_p.R474H|ACACA_uc002hnn.2_Missense_Mutation_p.R532H|ACACA_uc002hno.2_Missense_Mutation_p.R569H|ACACA_uc010cuz.2_Missense_Mutation_p.R532H	p.R532H	NM_198836	NP_942133	Q13085	ACACA_HUMAN			14	1786	-		Breast(25;0.00157)|Ovarian(249;0.15)	532			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.1595G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	35	5.572684	0.96553	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.93	5.93	0.95920	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.78104	0.4231	H	0.96861	3.895	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.944;0.997;0.995	D	0.84797	0.0782	10	0.87932	D	0	-10.0728	19.3421	0.94347	0.0:1.0:0.0:0.0	.	569;532;474	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	H	569;474;532;556;454	ENSP00000344789:R569H;ENSP00000353898:R474H;ENSP00000377928:R532H;ENSP00000335323:R454H	ENSP00000335323:R454H	R	-	2	0	ACACA	32688858	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	CGC		0.413	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
KRT33A	3883	broad.mit.edu	37	17	39503142	39503142	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:39503142C>T	ENST00000007735.3	-	5	874	c.830G>A	c.(829-831)cGc>cAc	p.R277H		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	277	Coil 2.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ATTGACCGTGCGTCTCAGCTC	0.582																																						uc002hwk.1																			0					0						c.(829-831)CGC>CAC		keratin 33A							152.0	135.0	141.0					17																	39503142		2203	4300	6503	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39503142C>T	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.830G>A	17.37:g.39503142C>T	ENSP00000007735:p.Arg277His						p.R277H	NM_004138	NP_004129	O76009	KT33A_HUMAN			5	867	-		Breast(137;0.000496)	277			Coil 2.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.830G>A	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070969	0.76301	.	.	ENSG00000006059	ENST00000007735	D	0.90504	-2.68	4.4	4.4	0.53042	Filament (1);	0.000000	0.64402	D	0.000004	D	0.91845	0.7419	M	0.64080	1.96	0.39285	D	0.964626	P	0.35821	0.523	P	0.45343	0.477	D	0.93554	0.6889	10	0.72032	D	0.01	.	16.4957	0.84242	0.0:1.0:0.0:0.0	.	277	O76009	KT33A_HUMAN	H	277	ENSP00000007735:R277H	ENSP00000007735:R277H	R	-	2	0	KRT33A	36756668	0.998000	0.40836	1.000000	0.80357	0.939000	0.58152	2.824000	0.48088	2.424000	0.82194	0.655000	0.94253	CGC		0.582	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138	
KRT19	3880	broad.mit.edu	37	17	39681243	39681243	+	Missense_Mutation	SNP	G	G	A	rs138005000		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:39681243G>A	ENST00000361566.3	-	3	572	c.512C>T	c.(511-513)aCg>aTg	p.T171M	KRT15_ENST00000254043.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	171	Coil 1B.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				AGCCTGTTCCGTCTCAAACCT	0.587													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19038	0.0		0.0	False		,,,				2504	0.0					uc010wfs.1																			0				ovary(2)|lung(2)|breast(1)	5						c.(1000-1002)ACG>ATG		junction plakoglobin		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	76.0	79.0	78.0		512	2.8	0.9	17	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KRT19	NM_002276.4	81	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		171/401	39681243	3,13003	2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39681243G>A		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.512C>T	17.37:g.39681243G>A	ENSP00000355124:p.Thr171Met					KRT19_uc002hxd.3_Missense_Mutation_p.T171M	p.T334M	NM_021991	NP_068831	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	6	1009	-		Breast(137;0.000162)	Error:Variant_position_missing_in_P14923_after_alignment					B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	ENST00000361566.3	37	c.1001C>T	CCDS11399.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877320	0.33162	4.54E-4	1.16E-4	ENSG00000171345	ENST00000361566;ENST00000455635	D;D	0.89485	-2.52;-2.52	4.83	2.84	0.33178	Filament (1);	0.135740	0.33650	N	0.004690	D	0.91365	0.7276	M	0.67517	2.055	0.28835	N	0.89693	B;D	0.76494	0.047;0.999	B;D	0.67725	0.017;0.953	D	0.84944	0.0867	10	0.66056	D	0.02	.	6.3112	0.21166	0.1536:0.0:0.6995:0.1469	.	334;171	B4DE59;P08727	.;K1C19_HUMAN	M	171;140	ENSP00000355124:T171M;ENSP00000408759:T140M	ENSP00000355124:T171M	T	-	2	0	KRT19	36934769	0.831000	0.29352	0.885000	0.34714	0.218000	0.24690	1.106000	0.31098	0.645000	0.30675	0.462000	0.41574	ACG		0.587	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276	
EPN3	55040	broad.mit.edu	37	17	48614388	48614388	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:48614388G>A	ENST00000268933.3	+	2	1050	c.471G>A	c.(469-471)gaG>gaA	p.E157E	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000541226.1_Silent_p.E101E|EPN3_ENST00000537145.1_Silent_p.E212E	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	157						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TGGCACTGGAGGGCATCGGCA	0.657																																						uc002ira.3																			0				ovary(1)	1						c.(469-471)GAG>GAA		epsin 3							35.0	25.0	29.0					17																	48614388		2203	4300	6503	SO:0001819	synonymous_variant	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48614388G>A	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.471G>A	17.37:g.48614388G>A						EPN3_uc010wms.1_Silent_p.E212E|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Silent_p.E157E	p.E157E	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		2	906	+	Breast(11;1.23e-18)		157					A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	ENST00000268933.3	37	c.471G>A	CCDS11570.1																																																																																				0.657	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957	
APBA3	9546	broad.mit.edu	37	19	3759564	3759564	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:3759564T>C	ENST00000316757.3	-	3	811	c.611A>G	c.(610-612)cAg>cGg	p.Q204R	AC005954.3_ENST00000591962.1_RNA	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	204					in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACCCTCCTGGGGGGCAGG	0.632																																						uc002lyp.1																			0					0						c.(610-612)CAG>CGG		amyloid beta (A4) precursor protein-binding,							10.0	12.0	11.0					19																	3759564		2180	4280	6460	SO:0001583	missense	9546				intracellular signal transduction|protein transport	intracellular|membrane	protein binding	g.chr19:3759564T>C	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"""X11-like 2"""	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.611A>G	19.37:g.3759564T>C	ENSP00000315136:p.Gln204Arg						p.Q204R	NM_004886	NP_004877	O96018	APBA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	3	788	-		Hepatocellular(1079;0.137)	204					O60483|Q9UPZ2	Missense_Mutation	SNP	ENST00000316757.3	37	c.611A>G	CCDS12110.1	.	.	.	.	.	.	.	.	.	.	T	8.751	0.921327	0.17982	.	.	ENSG00000011132	ENST00000316757	T	0.06528	3.29	4.7	-0.155	0.13395	.	1.362370	0.04905	N	0.452040	T	0.03827	0.0108	N	0.17474	0.49	0.20489	N	0.999899	B	0.14805	0.011	B	0.08055	0.003	T	0.44498	-0.9324	10	0.13853	T	0.58	.	4.2232	0.10568	0.0:0.2049:0.3759:0.4192	.	204	O96018	APBA3_HUMAN	R	204	ENSP00000315136:Q204R	ENSP00000315136:Q204R	Q	-	2	0	APBA3	3710564	0.235000	0.23794	0.986000	0.45419	0.978000	0.69477	0.283000	0.18846	-0.053000	0.13289	0.459000	0.35465	CAG		0.632	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2		
CLPP	8192	broad.mit.edu	37	19	6366351	6366351	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:6366351C>T	ENST00000245816.4	+	5	761	c.638C>T	c.(637-639)aCc>aTc	p.T213I	CLPP_ENST00000596149.1_Missense_Mutation_p.T126I|CLPP_ENST00000596605.1_3'UTR	NM_006012.2	NP_006003.1	Q16740	CLPP_HUMAN	caseinolytic mitochondrial matrix peptidase proteolytic subunit	213					protein homooligomerization (GO:0051260)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|ovary(2)	6						GCCAAGCACACCAAACAGAGC	0.557																																						uc002mem.1																			0				ovary(1)	1						c.(637-639)ACC>ATC		caseinolytic peptidase, ATP-dependent,							177.0	133.0	148.0					19																	6366351		2202	4300	6502	SO:0001583	missense	8192				proteolysis	mitochondrial matrix	ATP binding|protein binding|serine-type endopeptidase activity	g.chr19:6366351C>T	Z50853	CCDS12162.1	19p13.3	2013-09-12	2013-09-12		ENSG00000125656	ENSG00000125656		"""ATPases / AAA-type"""	2084	protein-coding gene	gene with protein product	"""ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human"""	601119	"""ClpP (caseinolytic protease, ATP-dependent, proteolytic subunit, E. coli) homolog"", ""ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli)"", ""ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)"""			8543061, 23360988	Standard	NM_006012		Approved		uc002mem.1	Q16740	OTTHUMG00000180779	ENST00000245816.4:c.638C>T	19.37:g.6366351C>T	ENSP00000245816:p.Thr213Ile					CLPP_uc002men.1_Missense_Mutation_p.T15I	p.T213I	NM_006012	NP_006003	Q16740	CLPP_HUMAN			5	761	+			213					B2R4W5	Missense_Mutation	SNP	ENST00000245816.4	37	c.638C>T	CCDS12162.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553148	0.86127	.	.	ENSG00000125656	ENST00000245816	.	.	.	5.5	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.86360	0.5914	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90183	0.4244	9	0.87932	D	0	-54.7966	13.5845	0.61921	0.0:0.9237:0.0:0.0763	.	213	Q16740	CLPP_HUMAN	I	213	.	ENSP00000245816:T213I	T	+	2	0	CLPP	6317351	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.952000	0.75989	1.490000	0.48466	0.650000	0.86243	ACC		0.557	CLPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452984.1	NM_006012	
VAV1	7409	broad.mit.edu	37	19	6772889	6772889	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:6772889C>A	ENST00000602142.1	+	1	153	c.71C>A	c.(70-72)aCc>aAc	p.T24N	VAV1_ENST00000304076.2_Missense_Mutation_p.T24N|VAV1_ENST00000596764.1_Missense_Mutation_p.T24N|VAV1_ENST00000539284.1_5'Flank	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	24	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CACCGCGTGACCTGGGATGGG	0.662																																						uc002mfu.1																			0				lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						c.(70-72)ACC>AAC		vav 1 guanine nucleotide exchange factor							91.0	68.0	76.0					19																	6772889		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6772889C>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.71C>A	19.37:g.6772889C>A	ENSP00000472929:p.Thr24Asn					VAV1_uc010xjh.1_Missense_Mutation_p.T24N|VAV1_uc010dva.1_Missense_Mutation_p.T24N	p.T24N	NM_005428	NP_005419	P15498	VAV_HUMAN			1	168	+			24			CH.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.71C>A	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	c	19.08	3.758424	0.69763	.	.	ENSG00000141968	ENST00000304076	T	0.60548	0.18	4.18	4.18	0.49190	Calponin homology domain (5);	0.000000	0.64402	U	0.000006	T	0.67515	0.2901	L	0.50993	1.605	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.997;0.997	T	0.62959	-0.6743	10	0.17832	T	0.49	.	13.9942	0.64386	0.0:1.0:0.0:0.0	.	24;24	B2R8B5;P15498	.;VAV_HUMAN	N	24	ENSP00000302269:T24N	ENSP00000302269:T24N	T	+	2	0	VAV1	6723889	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	4.309000	0.59135	1.870000	0.54199	0.306000	0.20318	ACC		0.662	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		
CYP4F8	11283	broad.mit.edu	37	19	15730340	15730340	+	RNA	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:15730340T>C	ENST00000441682.2	+	0	447							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TACAAGACCCTGAAGCCCTGG	0.537																																						uc002nbi.2																			0				large_intestine(1)	1						c.(382-384)CTG>CCG		cytochrome P450, family 4, subfamily F,							67.0	69.0	68.0					19																	15730340		2109	4237	6346			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15730340T>C	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15730340T>C						CYP4F8_uc010xoi.1_3'UTR|CYP4F8_uc010xoj.1_Intron	p.L128P	NM_007253	NP_009184	P98187	CP4F8_HUMAN			4	447	+			128						Missense_Mutation	SNP	ENST00000441682.2	37	c.383T>C		.	.	.	.	.	.	.	.	.	.	.	12.15	1.851236	0.32699	.	.	ENSG00000186526	ENST00000441682	.	.	.	3.05	3.05	0.35203	.	0.209787	0.31031	U	0.008394	T	0.71643	0.3364	.	.	.	.	.	.	D	0.89917	1.0	D	0.80764	0.994	T	0.80030	-0.1553	7	0.87932	D	0	.	9.48	0.38895	0.0:0.0:0.0:1.0	.	128	P98187	CP4F8_HUMAN	P	128	.	ENSP00000409702:L128P	L	+	2	0	CYP4F8	15591340	1.000000	0.71417	0.761000	0.31378	0.084000	0.17831	5.502000	0.66956	1.405000	0.46838	0.338000	0.21704	CTG		0.537	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253	
PSG7	5676	broad.mit.edu	37	19	43433692	43433692	+	RNA	SNP	A	A	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:43433692A>T	ENST00000406070.2	-	0	707				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GACACCAAATAGGTAGAGGGT	0.522																																						uc002ovl.3																			0					0						c.(610-612)CTA>CAA		pregnancy specific beta-1-glycoprotein 7							293.0	300.0	297.0					19																	43433692		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43433692A>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433692A>T						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_5'Flank|PSG7_uc002out.1_Missense_Mutation_p.L23Q|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.L82Q	p.L204Q	NM_002783	NP_002774	Q13046	PSG7_HUMAN			4	713	-		Prostate(69;0.00682)	204			Ig-like C2-type 1.		Q15232	Missense_Mutation	SNP	ENST00000406070.2	37	c.611T>A																																																																																					0.522	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650	
MYBPC2	4606	broad.mit.edu	37	19	50945481	50945481	+	Silent	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:50945481C>A	ENST00000357701.5	+	9	864	c.813C>A	c.(811-813)ggC>ggA	p.G271G		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	271	Ig-like C2-type 2.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGGACAGAGGCAACAAGATCA	0.522																																						uc002psf.2																			0				breast(1)	1						c.(811-813)GGC>GGA		myosin binding protein C, fast type							71.0	74.0	73.0					19																	50945481		2046	4188	6234	SO:0001819	synonymous_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50945481C>A		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.813C>A	19.37:g.50945481C>A							p.G271G	NM_004533	NP_004524	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	9	864	+		all_neural(266;0.057)	271			Ig-like C2-type 2.		A1L4G9	Silent	SNP	ENST00000357701.5	37	c.813C>A	CCDS46152.1																																																																																				0.522	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533	
RNF181	51255	broad.mit.edu	37	2	85824255	85824255	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:85824255A>G	ENST00000306368.4	+	4	386	c.356A>G	c.(355-357)gAg>gGg	p.E119G	RNF181_ENST00000441634.1_Missense_Mutation_p.E119G	NM_016494.3	NP_057578.1	Q9P0P0	RN181_HUMAN	ring finger protein 181	119					protein autoubiquitination (GO:0051865)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)|stomach(1)	2						TGCCGCTATGAGCTGCCCACT	0.522																																						uc002spv.1																			0					0						c.(355-357)GAG>GGG		ring finger protein 181							155.0	155.0	155.0					2																	85824255		2203	4300	6503	SO:0001583	missense	51255						ligase activity|zinc ion binding	g.chr2:85824255A>G	AF151072	CCDS1981.1	2p11.2	2013-01-09			ENSG00000168894	ENSG00000168894		"""RING-type (C3HC4) zinc fingers"""	28037	protein-coding gene	gene with protein product		612490				11042152	Standard	XM_005264359		Approved	HSPC238	uc002spv.1	Q9P0P0	OTTHUMG00000130182	ENST00000306368.4:c.356A>G	2.37:g.85824255A>G	ENSP00000306906:p.Glu119Gly						p.E119G	NM_016494	NP_057578	Q9P0P0	RN181_HUMAN			4	406	+			119					Q53H81	Missense_Mutation	SNP	ENST00000306368.4	37	c.356A>G	CCDS1981.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.748077	0.89663	.	.	ENSG00000168894	ENST00000441634;ENST00000306368;ENST00000456023	T;T	0.68765	-0.3;-0.35	5.39	5.39	0.77823	Zinc finger, RING/FYVE/PHD-type (1);	0.052599	0.85682	D	0.000000	D	0.84238	0.5428	M	0.90145	3.09	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.87388	0.2361	10	0.72032	D	0.01	.	13.3553	0.60625	1.0:0.0:0.0:0.0	.	119	Q9P0P0	RN181_HUMAN	G	119;119;115	ENSP00000412025:E119G;ENSP00000306906:E119G	ENSP00000306906:E119G	E	+	2	0	RNF181	85677766	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.207000	0.89746	2.030000	0.59900	0.459000	0.35465	GAG		0.522	RNF181-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252500.1	NM_016494	
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433																																						uc002thi.2																			5	Substitution - Missense(5)		lung(3)|kidney(1)|endometrium(1)	skin(2)	2						c.(1609-1611)ACT>GCT		anaphase promoting complex subunit 1							109.0	106.0	107.0					2																	112608394		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608394T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala						p.T537A	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			14	1856	-			537					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1609A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662	
ANAPC1	64682	broad.mit.edu	37	2	112608407	112608407	+	Silent	SNP	T	T	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:112608407T>A	ENST00000341068.3	-	14	2368	c.1596A>T	c.(1594-1596)ctA>ctT	p.L532L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	532					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TAACGCCATCTAGTGGAGTAC	0.433																																						uc002thi.2																			0				skin(2)	2						c.(1594-1596)CTA>CTT		anaphase promoting complex subunit 1							94.0	92.0	93.0					2																	112608407		2203	4300	6503	SO:0001819	synonymous_variant	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608407T>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1596A>T	2.37:g.112608407T>A							p.L532L	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			14	1843	-			532					Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	ENST00000341068.3	37	c.1596A>T	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	A	5.581	0.292050	0.10567	.	.	ENSG00000153107	ENST00000427997	.	.	.	4.57	-9.15	0.00698	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.1232	8.7726	0.34742	0.1214:0.6509:0.0741:0.1536	.	.	.	.	X	67	.	.	R	-	1	2	ANAPC1	112324878	0.554000	0.26522	0.003000	0.11579	0.321000	0.28281	-0.332000	0.07904	-2.283000	0.00672	-0.597000	0.04108	AGA		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662	
LY75	4065	broad.mit.edu	37	2	160755444	160755444	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:160755444C>T	ENST00000263636.4	-	2	248	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R74Q|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R74Q|LY75_ENST00000553424.1_Missense_Mutation_p.R74Q|LY75_ENST00000554112.1_Missense_Mutation_p.R74Q	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	74	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ATGAAAGAGCCGATGCTGGGA	0.493																																						uc002ubc.3																			0					0						c.(220-222)CGG>CAG		lymphocyte antigen 75 precursor							137.0	119.0	125.0					2																	160755444		2203	4300	6503	SO:0001583	missense	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160755444C>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.221G>A	2.37:g.160755444C>T	ENSP00000263636:p.Arg74Gln					LY75_uc002ubb.3_Missense_Mutation_p.R74Q|LY75_uc010fos.2_Missense_Mutation_p.R74Q|LY75_uc010fot.1_Missense_Mutation_p.R74Q	p.R74Q	NM_002349	NP_002340	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)	2	290	-			74			Extracellular (Potential).|Ricin B-type lectin.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.221G>A	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	36	5.611929	0.96637	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	6.02	6.02	0.97574	Ricin B-related lectin (1);Ricin B lectin (2);	0.000000	0.33253	N	0.005108	T	0.62429	0.2427	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.997	T	0.58165	-0.7684	10	0.32370	T	0.25	-21.0887	20.5407	0.99260	0.0:1.0:0.0:0.0	.	74;74;74	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	Q	74	ENSP00000451511:R74Q;ENSP00000451446:R74Q;ENSP00000263636:R74Q;ENSP00000423463:R74Q;ENSP00000421035:R74Q	ENSP00000423463:R74Q	R	-	2	0	LY75;LY75-CD302	160463690	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	6.750000	0.74888	2.865000	0.98341	0.655000	0.94253	CGG		0.493	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		
LRP2	4036	broad.mit.edu	37	2	170090092	170090092	+	Missense_Mutation	SNP	G	G	A	rs140789320		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:170090092G>A	ENST00000263816.3	-	30	5212	c.4927C>T	c.(4927-4929)Cgg>Tgg	p.R1643W		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1643					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TAGGGGTGCCGTATAATCTGT	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18954	0.0		0.0	False		,,,				2504	0.0					uc002ues.2																			0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(4927-4929)CGG>TGG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	G	TRP/ARG	0,4406		0,0,2203	53.0	48.0	49.0		4927	5.2	0.0	2	dbSNP_134	49	2,8598	2.2+/-6.3	0,2,4298	no	missense	LRP2	NM_004525.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1643/4656	170090092	2,13004	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170090092G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4927C>T	2.37:g.170090092G>A	ENSP00000263816:p.Arg1643Trp						p.R1643W	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	30	5140	-			1643			LDL-receptor class B 13.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4927C>T	CCDS2232.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.47	3.630093	0.67015	0.0	2.33E-4	ENSG00000081479	ENST00000263816	D	0.91295	-2.82	5.16	5.16	0.70880	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.333584	0.32218	N	0.006407	D	0.93638	0.7968	M	0.79011	2.435	0.80722	D	1	D	0.71674	0.998	P	0.52957	0.714	D	0.94072	0.7336	10	0.59425	D	0.04	.	19.018	0.92902	0.0:0.0:1.0:0.0	.	1643	P98164	LRP2_HUMAN	W	1643	ENSP00000263816:R1643W	ENSP00000263816:R1643W	R	-	1	2	LRP2	169798338	1.000000	0.71417	0.015000	0.15790	0.051000	0.14879	6.678000	0.74508	2.573000	0.86826	0.557000	0.71058	CGG		0.498	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
TRIP12	9320	broad.mit.edu	37	2	230663714	230663714	+	Missense_Mutation	SNP	A	A	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:230663714A>C	ENST00000283943.5	-	22	3312	c.3134T>G	c.(3133-3135)tTg>tGg	p.L1045W	TRIP12_ENST00000543084.1_3'UTR|TRIP12_ENST00000389045.3_Missense_Mutation_p.L775W|TRIP12_ENST00000389044.4_Missense_Mutation_p.L1093W	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1045					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTTTGGATTCAAGCTTGCCAG	0.448																																						uc002vpw.1																			0				ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(3133-3135)TTG>TGG		thyroid hormone receptor interactor 12							154.0	149.0	150.0					2																	230663714		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230663714A>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3134T>G	2.37:g.230663714A>C	ENSP00000283943:p.Leu1045Trp					TRIP12_uc002vpx.1_Missense_Mutation_p.L1093W|TRIP12_uc002vpy.1_Missense_Mutation_p.L775W|TRIP12_uc010zlz.1_RNA	p.L1045W	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	22	3243	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1045					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.3134T>G	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857392	0.91433	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.49720	0.77;0.77;0.77	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.65312	0.2679	L	0.54323	1.7	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77557	0.99;0.99;0.99	T	0.67635	-0.5620	10	0.87932	D	0	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	775;1093;1045	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	W	1045;775;1093	ENSP00000283943:L1045W;ENSP00000373697:L775W;ENSP00000373696:L1093W	ENSP00000283943:L1045W	L	-	2	0	TRIP12	230371958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.923000	0.92808	2.254000	0.74563	0.533000	0.62120	TTG		0.448	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
TRIP12	9320	broad.mit.edu	37	2	230663734	230663734	+	Silent	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:230663734T>C	ENST00000283943.5	-	22	3292	c.3114A>G	c.(3112-3114)aaA>aaG	p.K1038K	TRIP12_ENST00000543084.1_3'UTR|TRIP12_ENST00000389045.3_Silent_p.K768K|TRIP12_ENST00000389044.4_Silent_p.K1086K	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1038					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GGAAAGAAGATTTAGGTGACT	0.398																																						uc002vpw.1																			0				ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(3112-3114)AAA>AAG		thyroid hormone receptor interactor 12							140.0	136.0	137.0					2																	230663734		2203	4300	6503	SO:0001819	synonymous_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230663734T>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3114A>G	2.37:g.230663734T>C						TRIP12_uc002vpx.1_Silent_p.K1086K|TRIP12_uc002vpy.1_Silent_p.K768K|TRIP12_uc010zlz.1_RNA	p.K1038K	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	22	3223	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1038					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	c.3114A>G	CCDS33391.1																																																																																				0.398	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
TRIP12	9320	broad.mit.edu	37	2	230663763	230663763	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:230663763T>C	ENST00000283943.5	-	22	3263	c.3085A>G	c.(3085-3087)Aaa>Gaa	p.K1029E	TRIP12_ENST00000543084.1_3'UTR|TRIP12_ENST00000389045.3_Missense_Mutation_p.K759E|TRIP12_ENST00000389044.4_Missense_Mutation_p.K1077E	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1029					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTGGGGCTTTTAGCTATGAAA	0.343																																						uc002vpw.1																			0				ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(3085-3087)AAA>GAA		thyroid hormone receptor interactor 12							106.0	105.0	105.0					2																	230663763		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230663763T>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3085A>G	2.37:g.230663763T>C	ENSP00000283943:p.Lys1029Glu					TRIP12_uc002vpx.1_Missense_Mutation_p.K1077E|TRIP12_uc002vpy.1_Missense_Mutation_p.K759E|TRIP12_uc010zlz.1_RNA	p.K1029E	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	22	3194	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1029					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.3085A>G	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.913474	0.92178	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.52057	0.68;0.68;0.68	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	L	0.29908	0.895	0.80722	D	1	P;P;P	0.52842	0.956;0.956;0.956	D;D;D	0.65010	0.931;0.931;0.931	T	0.43766	-0.9371	10	0.12103	T	0.63	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	759;1077;1029	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	E	1029;759;1077	ENSP00000283943:K1029E;ENSP00000373697:K759E;ENSP00000373696:K1077E	ENSP00000283943:K1029E	K	-	1	0	TRIP12	230372007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	2.371000	0.80710	0.533000	0.62120	AAA		0.343	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
TGM3	7053	broad.mit.edu	37	20	2298103	2298103	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr20:2298103C>A	ENST00000381458.5	+	7	1018	c.955C>A	c.(955-957)Ccc>Acc	p.P319T	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	319					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CATGGGAAACCCCCTGGACAA	0.507																																						uc002wfx.3																			0				large_intestine(4)|ovary(3)|breast(1)|skin(1)	9						c.(955-957)CCC>ACC		transglutaminase 3 precursor	L-Glutamine(DB00130)						214.0	200.0	205.0					20																	2298103		2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2298103C>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.955C>A	20.37:g.2298103C>A	ENSP00000370867:p.Pro319Thr						p.P319T	NM_003245	NP_003236	Q08188	TGM3_HUMAN			7	1052	+			319					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.955C>A	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	C	0.130	-1.114327	0.01799	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	T	0.48836	0.8	5.44	5.44	0.79542	Transglutaminase-like (2);	0.347123	0.31113	N	0.008232	T	0.29524	0.0736	N	0.21240	0.645	0.09310	N	1	P	0.46952	0.887	B	0.42851	0.4	T	0.30966	-0.9960	10	0.02654	T	1	.	10.0508	0.42214	0.0:0.9118:0.0:0.0882	.	319	Q08188	TGM3_HUMAN	T	319	ENSP00000370867:P319T	ENSP00000370867:P319T	P	+	1	0	TGM3	2246103	0.275000	0.24201	0.245000	0.24217	0.861000	0.49209	2.313000	0.43735	2.832000	0.97577	0.655000	0.94253	CCC		0.507	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245	
FAM65C	140876	broad.mit.edu	37	20	49221267	49221267	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr20:49221267C>T	ENST00000327979.2	-	12	1400	c.989G>A	c.(988-990)gGc>gAc	p.G330D	FAM65C_ENST00000045083.2_Missense_Mutation_p.G330D|FAM65C_ENST00000535356.1_Missense_Mutation_p.G334D			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	330										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAAAACTTGCCCGTGGGGCT	0.592																																						uc002xvm.2																			0				ovary(2)	2						c.(988-990)GGC>GAC		hypothetical protein LOC140876							44.0	43.0	43.0					20																	49221267		2203	4300	6503	SO:0001583	missense	140876							g.chr20:49221267C>T	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.989G>A	20.37:g.49221267C>T	ENSP00000332663:p.Gly330Asp					FAM65C_uc010zyt.1_Missense_Mutation_p.G334D|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.G330D	p.G330D	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN			12	1307	-			330					Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	c.989G>A	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	C	7.536	0.659749	0.14645	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.02103	4.45;4.45;4.45	3.95	0.277	0.15668	.	0.545187	0.17312	N	0.178855	T	0.01976	0.0062	N	0.22421	0.69	0.22666	N	0.998872	B;B	0.32071	0.355;0.302	B;B	0.38562	0.276;0.215	T	0.50346	-0.8839	10	0.17832	T	0.49	-9.1157	8.3104	0.32068	0.1637:0.3255:0.5108:0.0	.	334;330	F5H0X2;Q96MK2	.;FA65C_HUMAN	D	330;330;334	ENSP00000332663:G330D;ENSP00000045083:G330D;ENSP00000439802:G334D	ENSP00000045083:G330D	G	-	2	0	FAM65C	48654674	0.496000	0.26059	0.097000	0.21041	0.253000	0.25986	0.654000	0.24918	0.189000	0.20188	0.561000	0.74099	GGC		0.592	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1		
TRPM2	7226	broad.mit.edu	37	21	45789188	45789188	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr21:45789188G>A	ENST00000397928.1	+	5	1178	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TRPM2_ENST00000300482.5_Missense_Mutation_p.G245S|TRPM2_ENST00000300481.9_Missense_Mutation_p.G245S|TRPM2_ENST00000397932.2_Missense_Mutation_p.G245S|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	245					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						CGCCACCTGGGGCACTGTCCA	0.667																																						uc002zet.1																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(733-735)GGC>AGC		transient receptor potential cation channel,							51.0	44.0	46.0					21																	45789188		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45789188G>A	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.733G>A	21.37:g.45789188G>A	ENSP00000381023:p.Gly245Ser					TRPM2_uc002zeu.1_Missense_Mutation_p.G245S|TRPM2_uc002zew.1_Missense_Mutation_p.G245S|TRPM2_uc010gpt.1_Missense_Mutation_p.G245S|TRPM2_uc002zex.1_Missense_Mutation_p.G31S	p.G245S	NM_003307	NP_003298	O94759	TRPM2_HUMAN			6	946	+			245			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.733G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055679	0.93793	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	3.51	3.51	0.40186	.	0.000000	0.85682	U	0.000000	T	0.47078	0.1426	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.60383	-0.7274	10	0.87932	D	0	-32.1457	15.576	0.76387	0.0:0.0:1.0:0.0	.	245;245	E9PGK7;O94759	.;TRPM2_HUMAN	S	245	ENSP00000300482:G245S;ENSP00000381023:G245S;ENSP00000300481:G245S;ENSP00000381026:G245S	ENSP00000300481:G245S	G	+	1	0	TRPM2	44613616	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.363000	0.79516	1.951000	0.56629	0.467000	0.42956	GGC		0.667	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
ZBED4	9889	broad.mit.edu	37	22	50280049	50280049	+	Silent	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr22:50280049C>T	ENST00000216268.5	+	2	3216	c.2739C>T	c.(2737-2739)tcC>tcT	p.S913S		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	913						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ACGAGATGTCCGTCGAGTGTA	0.587																																						uc003bix.2																			0				ovary(2)	2						c.(2737-2739)TCC>TCT		zinc finger, BED-type containing 4							100.0	80.0	87.0					22																	50280049		2203	4300	6503	SO:0001819	synonymous_variant	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50280049C>T	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.2739C>T	22.37:g.50280049C>T							p.S913S	NM_014838	NP_055653	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	3209	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	913					B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	ENST00000216268.5	37	c.2739C>T	CCDS33677.1																																																																																				0.587	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838	
GRIP2	80852	broad.mit.edu	37	3	14558595	14558595	+	RNA	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr3:14558595C>T	ENST00000273083.3	-	0	1347							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TTCCCTTCTTCGCTGCCTCCT	0.572																																						uc011avi.1																			0				pancreas(1)	1						c.(1576-1578)CGA>CAA		glutamate receptor interacting protein 2							65.0	72.0	70.0					3																	14558595		2082	4210	6292			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14558595C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14558595C>T						GRIP2_uc011avh.1_Missense_Mutation_p.R57Q	p.R526Q	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN			12	1577	-			428					Q8TEH9|Q9H7H3	Missense_Mutation	SNP	ENST00000273083.3	37	c.1577G>A																																																																																					0.572	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423	
TLR9	54106	broad.mit.edu	37	3	52255367	52255367	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr3:52255367G>T	ENST00000360658.2	-	2	3598	c.2965C>A	c.(2965-2967)Cgc>Agc	p.R989S	TLR9_ENST00000494383.1_Missense_Mutation_p.P1142Q|TLR9_ENST00000597542.1_Missense_Mutation_p.R1013S	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	989	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	ACACTCTGGCGGCAGAGGCGC	0.687																																						uc003dda.1																			0				large_intestine(2)|skin(2)	4						c.(2965-2967)CGC>AGC		toll-like receptor 9 isoform A precursor	Chloroquine(DB00608)						31.0	35.0	34.0					3																	52255367		2203	4299	6502	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52255367G>T	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2965C>A	3.37:g.52255367G>T	ENSP00000353874:p.Arg989Ser					TLR9_uc003ddb.2_Missense_Mutation_p.R1086S	p.R989S	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	3599	-			989			TIR.|Cytoplasmic (Potential).		B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.2965C>A	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.75|15.75	2.926043|2.926043	0.52759|0.52759	.|.	.|.	ENSG00000173366|ENSG00000239732	ENST00000494383|ENST00000360658	.|T	.|0.07908	.|3.15	5.18|5.18	4.28|4.28	0.50868|0.50868	.|Toll/interleukin-1 receptor homology (TIR) domain (3);	.|0.000000	.|0.42053	.|D	.|0.000780	T|T	0.09949|0.09949	0.0244|0.0244	L|L	0.48935|0.48935	1.535|1.535	0.41648|0.41648	D|D	0.989112|0.989112	.|B;B	.|0.30068	.|0.267;0.167	.|B;B	.|0.30029	.|0.11;0.103	T|T	0.07102|0.07102	-1.0790|-1.0790	5|10	.|0.66056	.|D	.|0.02	.|.	12.8779|12.8779	0.57999|0.57999	0.0:0.0:0.824:0.176|0.0:0.0:0.824:0.176	.|.	.|1086;989	.|B4E0A1;Q9NR96	.|.;TLR9_HUMAN	Q|S	1142|989	.|ENSP00000353874:R989S	.|ENSP00000353874:R989S	P|R	-|-	2|1	0|0	RP11-330H6.5|TLR9	52230407|52230407	0.703000|0.703000	0.27826|0.27826	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.408000|0.408000	0.21065|0.21065	1.332000|1.332000	0.45431|0.45431	0.591000|0.591000	0.81541|0.81541	CCG|CGC		0.687	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1		
TNIP3	79931	broad.mit.edu	37	4	122075742	122075742	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr4:122075742C>G	ENST00000509841.1	-	8	765	c.687G>C	c.(685-687)aaG>aaC	p.K229N	TNIP3_ENST00000057513.3_Missense_Mutation_p.K152N|TNIP3_ENST00000454328.1_Missense_Mutation_p.K152N|TNIP3_ENST00000507879.1_Missense_Mutation_p.K222N	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CGTAATGTTCCTTTTCCTTGT	0.343																																						uc010ing.2																			0				ovary(1)	1						c.(454-456)AAG>AAC		TNFAIP3 interacting protein 3							186.0	170.0	175.0					4																	122075742		2203	4300	6503	SO:0001583	missense	79931							g.chr4:122075742C>G	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.687G>C	4.37:g.122075742C>G	ENSP00000426613:p.Lys229Asn					TNIP3_uc010inh.2_Missense_Mutation_p.K152N|TNIP3_uc011cgj.1_Missense_Mutation_p.K210N|TNIP3_uc010ini.2_Missense_Mutation_p.K152N	p.K152N	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN			5	652	-			152			Potential.			Missense_Mutation	SNP	ENST00000509841.1	37	c.456G>C	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299524	0.40694	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	4.71	2.94	0.34122	.	0.162472	0.41001	D	0.000976	T	0.70369	0.3216	L	0.60455	1.87	0.31321	N	0.686051	D;D;D	0.76494	0.996;0.999;0.96	P;D;P	0.63283	0.856;0.913;0.711	T	0.72861	-0.4164	10	0.87932	D	0	-17.8499	9.8035	0.40779	0.0:0.768:0.0:0.232	.	222;152;152	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	N	152;152;222;229	ENSP00000057513:K152N;ENSP00000411817:K152N;ENSP00000427106:K222N;ENSP00000426613:K229N	ENSP00000057513:K152N	K	-	3	2	TNIP3	122295192	1.000000	0.71417	0.984000	0.44739	0.179000	0.23085	0.870000	0.28010	0.657000	0.30906	0.655000	0.94253	AAG		0.343	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873	
BRD9	65980	broad.mit.edu	37	5	865623	865623	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:865623G>C	ENST00000467963.1	-	15	1765	c.1599C>G	c.(1597-1599)gaC>gaG	p.D533E	BRD9_ENST00000388890.4_Missense_Mutation_p.D417E|BRD9_ENST00000483173.1_Missense_Mutation_p.D480E|BRD9_ENST00000323510.4_Missense_Mutation_p.D437E	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	533					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CTTCGTGCAGGTCCTGCAGGA	0.617																																						uc003jbq.2																			0					0						c.(1597-1599)GAC>GAG		bromodomain containing 9 isoform 1							157.0	154.0	155.0					5																	865623		2203	4300	6503	SO:0001583	missense	65980						nucleic acid binding	g.chr5:865623G>C	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1599C>G	5.37:g.865623G>C	ENSP00000419765:p.Asp533Glu					BRD9_uc003jbl.2_Missense_Mutation_p.D417E|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Missense_Mutation_p.D480E|BRD9_uc003jbo.2_Missense_Mutation_p.D437E	p.D533E	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		15	1766	-			533					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	ENST00000467963.1	37	c.1599C>G	CCDS34127.2	.	.	.	.	.	.	.	.	.	.	g	0.224	-1.026390	0.02045	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000483173;ENST00000467963	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.36	0.85	0.18980	.	0.089231	0.85682	N	0.000000	T	0.20941	0.0504	N	0.11201	0.11	0.80722	D	1	B;B;B;B	0.29301	0.241;0.241;0.043;0.043	B;B;B;B	0.25987	0.065;0.065;0.05;0.05	T	0.06041	-1.0849	10	0.10902	T	0.67	.	7.5513	0.27798	0.2926:0.1218:0.5856:0.0	.	480;533;437;417	B4DMQ2;Q9H8M2;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.	E	437;417;480;533	ENSP00000323557:D437E;ENSP00000373542:D417E;ENSP00000419845:D480E;ENSP00000419765:D533E	ENSP00000323557:D437E	D	-	3	2	BRD9	918623	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	1.013000	0.29937	0.227000	0.20999	0.561000	0.74099	GAC		0.617	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924	
MARVELD2	153562	broad.mit.edu	37	5	68728420	68728420	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:68728420G>A	ENST00000325631.5	+	4	1323	c.1249G>A	c.(1249-1251)Gca>Aca	p.A417T	MARVELD2_ENST00000413223.2_Missense_Mutation_p.A301T	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	417					cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ACTGAGAACAGCAAAAATGAA	0.448																																						uc003jwq.2																			0					0						c.(1249-1251)GCA>ACA		MARVEL domain containing 2 isoform 1							93.0	86.0	88.0					5																	68728420		2203	4300	6503	SO:0001583	missense	153562				sensory perception of sound	integral to membrane|tight junction		g.chr5:68728420G>A	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"""tricellulin"""	610572	"""MARVEL (membrane-associating) domain containing 2"", ""deafness, autosomal recessive 49"""	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.1249G>A	5.37:g.68728420G>A	ENSP00000323264:p.Ala417Thr					MARVELD2_uc010ixf.2_Missense_Mutation_p.A405T|MARVELD2_uc003jwr.1_Missense_Mutation_p.A417T|MARVELD2_uc003jws.1_RNA	p.A417T	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	4	1308	+		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)	417			Cytoplasmic (Potential).		A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP	ENST00000325631.5	37	c.1249G>A	CCDS34175.1	.	.	.	.	.	.	.	.	.	.	G	1.438	-0.568527	0.03910	.	.	ENSG00000152939	ENST00000325631;ENST00000282886;ENST00000454295;ENST00000512803;ENST00000436532;ENST00000413223	T;T;T;T;T	0.42513	1.53;0.97;1.53;1.55;1.55	5.7	-1.22	0.09494	.	0.773311	0.12703	N	0.446150	T	0.10337	0.0253	N	0.00554	-1.385	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.37291	-0.9712	10	0.10111	T	0.7	-5.1999	7.307	0.26453	0.3189:0.1562:0.525:0.0	.	405;417;417	Q8N4S9-3;Q8N4S9-2;Q8N4S9	.;.;MALD2_HUMAN	T	417;417;405;417;301;301	ENSP00000323264:A417T;ENSP00000396244:A405T;ENSP00000423490:A417T;ENSP00000414776:A301T;ENSP00000398922:A301T	ENSP00000282886:A417T	A	+	1	0	MARVELD2	68764176	0.494000	0.26043	0.005000	0.12908	0.724000	0.41520	0.433000	0.21477	-0.192000	0.10432	-0.345000	0.07892	GCA		0.448	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1	NM_144724	
SLCO6A1	133482	broad.mit.edu	37	5	101816005	101816005	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:101816005G>T	ENST00000506729.1	-	2	663	c.492C>A	c.(490-492)ttC>ttA	p.F164L	SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.F164L|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.F164L|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.F164L|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.F164L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGTCTCCATAGAATGCTATAA	0.338																																						uc003knn.2																			0				ovary(3)|skin(3)|central_nervous_system(1)	7						c.(490-492)TTC>TTA		solute carrier organic anion transporter family,							119.0	122.0	121.0					5																	101816005		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101816005G>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.492C>A	5.37:g.101816005G>T	ENSP00000421339:p.Phe164Leu					SLCO6A1_uc003kno.2_Missense_Mutation_p.F164L|SLCO6A1_uc003knp.2_Missense_Mutation_p.F164L|SLCO6A1_uc003knq.2_Missense_Mutation_p.F164L	p.F164L	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	2	664	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	164			Helical; Name=2; (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.492C>A	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.590156	0.28357	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	4.56	0.764	0.18465	Major facilitator superfamily domain, general substrate transporter (1);	0.472554	0.20159	N	0.097986	T	0.39145	0.1067	L	0.58810	1.83	0.18873	N	0.999986	P;P;P	0.44877	0.842;0.625;0.845	P;B;B	0.45276	0.475;0.33;0.326	T	0.26744	-1.0094	10	0.72032	D	0.01	.	6.4163	0.21717	0.4152:0.0:0.5848:0.0	.	164;164;164	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	L	164	ENSP00000421339:F164L;ENSP00000369135:F164L;ENSP00000373671:F164L;ENSP00000421990:F164L;ENSP00000369138:F164L	ENSP00000369135:F164L	F	-	3	2	SLCO6A1	101843904	0.923000	0.31300	0.395000	0.26283	0.087000	0.18053	0.125000	0.15749	0.264000	0.21851	-0.140000	0.14226	TTC		0.338	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
CHSY3	337876	broad.mit.edu	37	5	129519964	129519964	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:129519964G>A	ENST00000305031.4	+	3	1487	c.1129G>A	c.(1129-1131)Ggt>Agt	p.G377S	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	377					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAATCGGAAGGGTTACATCCA	0.338																																						uc003kvd.2																			0				ovary(2)|pancreas(1)	3						c.(1129-1131)GGT>AGT		chondroitin sulfate synthase 3							86.0	82.0	84.0					5																	129519964		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129519964G>A	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1129G>A	5.37:g.129519964G>A	ENSP00000302629:p.Gly377Ser						p.G377S	NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	1129	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	377			Lumenal (Potential).		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1129G>A	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818022	0.90790	.	.	ENSG00000198108	ENST00000305031	D	0.84660	-1.88	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000016	D	0.85695	0.5756	M	0.62723	1.935	0.80722	D	1	P	0.37548	0.599	B	0.42062	0.374	D	0.84551	0.0644	9	.	.	.	-0.7207	18.4922	0.90852	0.0:0.0:1.0:0.0	.	377	Q70JA7	CHSS3_HUMAN	S	377	ENSP00000302629:G377S	.	G	+	1	0	CHSY3	129547863	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.775000	0.95449	0.644000	0.83932	GGT		0.338	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856	
FBXO38	81545	broad.mit.edu	37	5	147784293	147784293	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:147784293T>G	ENST00000340253.5	+	6	806	c.638T>G	c.(637-639)cTt>cGt	p.L213R	FBXO38_ENST00000296701.6_Missense_Mutation_p.L213R|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000394370.3_Missense_Mutation_p.L213R|FBXO38_ENST00000513826.1_Missense_Mutation_p.L213R			Q6PIJ6	FBX38_HUMAN	F-box protein 38	213					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAAGGCACCTTTATATGAAG	0.348																																						uc003lpf.1																			0				ovary(4)|skin(2)	6						c.(637-639)CTT>CGT		F-box protein 38 isoform b							86.0	81.0	83.0					5																	147784293		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147784293T>G	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.638T>G	5.37:g.147784293T>G	ENSP00000342023:p.Leu213Arg					FBXO38_uc003lpg.1_Missense_Mutation_p.L213R|FBXO38_uc003lph.2_Missense_Mutation_p.L213R	p.L213R	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	758	+			213					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.638T>G		.	.	.	.	.	.	.	.	.	.	T	24.2	4.509689	0.85282	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.59906	0.23;3.67;0.23;3.67	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.66723	0.2818	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.989;0.995;0.997	T	0.70360	-0.4893	10	0.87932	D	0	-15.689	14.4534	0.67401	0.0:0.0:0.0:1.0	.	213;213;213	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	R	213	ENSP00000342023:L213R;ENSP00000296701:L213R;ENSP00000377895:L213R;ENSP00000426410:L213R	ENSP00000296701:L213R	L	+	2	0	FBXO38	147764486	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.634000	0.83273	2.140000	0.66376	0.533000	0.62120	CTT		0.348	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793	
SLIT3	6586	broad.mit.edu	37	5	168212916	168212916	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:168212916G>A	ENST00000519560.1	-	12	1566	c.1147C>T	c.(1147-1149)Ctg>Ttg	p.L383L	SLIT3_ENST00000332966.8_Silent_p.L383L|SLIT3_ENST00000404867.3_Silent_p.L383L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	383					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCACAGCAGCTGTAGGGAC	0.493																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2																			0				ovary(3)|skin(1)	4						c.(1147-1149)CTG>TTG		slit homolog 3 precursor							149.0	124.0	133.0					5																	168212916		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168212916G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1147C>T	5.37:g.168212916G>A						SLIT3_uc010jjg.2_Silent_p.L383L|SLIT3_uc010jji.2_Silent_p.L383L|SLIT3_uc003mac.1_Silent_p.L180L	p.L383L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		12	1567	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	383			LRR 10.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.1147C>T	CCDS4369.1																																																																																				0.493	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	
NSD1	64324	broad.mit.edu	37	5	176638305	176638305	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:176638305G>A	ENST00000439151.2	+	5	2950	c.2905G>A	c.(2905-2907)Gga>Aga	p.G969R	NSD1_ENST00000361032.4_Missense_Mutation_p.G866R|NSD1_ENST00000347982.4_Missense_Mutation_p.G700R|NSD1_ENST00000354179.4_Missense_Mutation_p.G700R	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	969					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGAGAAAAAGGGAGATGGCAC	0.512			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(2905-2907)GGA>AGA		nuclear receptor binding SET domain protein 1							67.0	67.0	67.0					5																	176638305		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638305G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2905G>A	5.37:g.176638305G>A	ENSP00000395929:p.Gly969Arg	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.G700R|NSD1_uc003mfs.1_Missense_Mutation_p.G866R|NSD1_uc011dfx.1_Missense_Mutation_p.G617R	p.G969R	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3043	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	969					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.2905G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	7.330	0.618779	0.14129	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93811	-3.18;-3.18;-3.18;-3.29	4.83	3.06	0.35304	.	0.561873	0.17192	N	0.183456	D	0.88768	0.6526	L	0.29908	0.895	0.09310	N	1	P;D;P	0.56746	0.836;0.977;0.597	B;P;B	0.48030	0.44;0.564;0.17	T	0.80317	-0.1433	9	.	.	.	.	6.4161	0.21717	0.166:0.1497:0.6843:0.0	.	700;866;969	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	R	700;969;700;866	ENSP00000346111:G700R;ENSP00000395929:G969R;ENSP00000343209:G700R;ENSP00000354310:G866R	.	G	+	1	0	NSD1	176570911	1.000000	0.71417	0.015000	0.15790	0.104000	0.19210	2.599000	0.46231	0.755000	0.32990	-0.140000	0.14226	GGA		0.512	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
PNPLA1	285848	broad.mit.edu	37	6	36259268	36259268	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr6:36259268G>A	ENST00000394571.2	+	2	377	c.377G>A	c.(376-378)cGc>cAc	p.R126H	PNPLA1_ENST00000312917.5_Missense_Mutation_p.R31H|PNPLA1_ENST00000388715.3_Missense_Mutation_p.R31H	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	126	Patatin.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)	p.R31H(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AGCCTCACCCGCTTAACGGAC	0.602																																						uc010jwf.2																			1	Substitution - Missense(1)		large_intestine(1)	large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						c.(376-378)CGC>CAC		patatin-like phospholipase domain containing 1							68.0	61.0	63.0					6																	36259268		2203	4300	6503	SO:0001583	missense	285848				lipid catabolic process		hydrolase activity	g.chr6:36259268G>A		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.377G>A	6.37:g.36259268G>A	ENSP00000378072:p.Arg126His					PNPLA1_uc003olw.1_Missense_Mutation_p.R31H|PNPLA1_uc010jwe.1_Missense_Mutation_p.R31H	p.R126H	NM_001145717	NP_001139189	Q8N8W4	PLPL1_HUMAN			2	377	+			126			Patatin.		A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	c.377G>A	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882637	0.72410	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.24	4.36	0.52297	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.64402	D	0.000012	D	0.82435	0.5036	M	0.71206	2.165	0.43275	D	0.995239	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	D	0.84937	0.0863	10	0.87932	D	0	-21.413	11.3522	0.49594	0.0887:0.0:0.9113:0.0	.	126;31	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	H	31;31;126;126	ENSP00000373367:R31H;ENSP00000321116:R31H;ENSP00000391868:R126H;ENSP00000378072:R126H	ENSP00000321116:R31H	R	+	2	0	PNPLA1	36367246	0.999000	0.42202	0.830000	0.32933	0.591000	0.36615	8.356000	0.90085	1.198000	0.43158	0.467000	0.42956	CGC		0.602	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676	
PRICKLE4	29964	broad.mit.edu	37	6	41753983	41753983	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr6:41753983A>G	ENST00000394260.1	+	4	580	c.580A>G	c.(580-582)Agc>Ggc	p.S194G	PRICKLE4_ENST00000458694.1_Missense_Mutation_p.S234G|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.S194G|TOMM6_ENST00000398881.3_5'Flank|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.S234G|PRICKLE4_ENST00000359201.5_Missense_Mutation_p.S234G|TOMM6_ENST00000398884.3_5'Flank			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	194	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCTGGGGGAAGCCCCTGCTG	0.672																																						uc011duf.1																			0					0						c.(700-702)AGC>GGC		over-expressed breast tumor protein							29.0	31.0	30.0					6																	41753983		2203	4298	6501	SO:0001583	missense	29964					nucleus	zinc ion binding	g.chr6:41753983A>G	AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"""chromosome 6 open reading frame 49"""	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.580A>G	6.37:g.41753983A>G	ENSP00000377803:p.Ser194Gly					PRICKLE4_uc003ord.2_RNA|TOMM6_uc003org.2_5'Flank|TOMM6_uc011dug.1_5'Flank	p.S234G	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	948	+	Ovarian(28;0.0355)|Colorectal(47;0.121)		194			LIM zinc-binding 2.		A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Missense_Mutation	SNP	ENST00000394260.1	37	c.700A>G		.	.	.	.	.	.	.	.	.	.	A	9.498	1.102495	0.20632	.	.	ENSG00000124593	ENST00000458694;ENST00000359201;ENST00000394263;ENST00000394259;ENST00000394260	D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28	4.81	2.82	0.32997	.	0.241831	0.29551	N	0.011834	T	0.51143	0.1657	N	0.10945	0.07	0.28582	N	0.910063	B	0.06786	0.001	B	0.08055	0.003	T	0.41251	-0.9519	10	0.27785	T	0.31	-8.6764	4.6754	0.12710	0.1906:0.3795:0.4299:0.0	.	234	Q2TBC4-3	.	G	234;234;234;194;194	ENSP00000404911:S234G;ENSP00000352128:S234G;ENSP00000377806:S234G;ENSP00000377802:S194G;ENSP00000377803:S194G	ENSP00000335185:S234G	S	+	1	0	PRICKLE4	41861961	0.002000	0.14202	1.000000	0.80357	0.970000	0.65996	0.017000	0.13399	0.485000	0.27652	0.459000	0.35465	AGC		0.672	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	NM_013397	
TIAM2	26230	broad.mit.edu	37	6	155572049	155572049	+	Silent	SNP	A	A	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr6:155572049A>C	ENST00000461783.3	+	24	5227	c.3954A>C	c.(3952-3954)gtA>gtC	p.V1318V	TIAM2_ENST00000360366.4_Silent_p.V1342V|TIAM2_ENST00000367174.2_Silent_p.V694V|TIAM2_ENST00000529824.2_Silent_p.V1347V|TIAM2_ENST00000456144.1_Silent_p.V1347V|TIAM2_ENST00000528391.2_Silent_p.V654V|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000275246.7_Silent_p.V243V|TIAM2_ENST00000456877.2_Silent_p.V630V|TIAM2_ENST00000318981.5_Silent_p.V1318V			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1318					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAATCTAGGTAACAGAACTTT	0.423																																						uc003qqb.2																			0				ovary(3)|breast(1)	4						c.(3952-3954)GTA>GTC		T-cell lymphoma invasion and metastasis 2							144.0	139.0	141.0					6																	155572049		2203	4300	6503	SO:0001819	synonymous_variant	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155572049A>C		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3954A>C	6.37:g.155572049A>C						TIAM2_uc003qqe.2_Silent_p.V1318V|TIAM2_uc010kjj.2_Silent_p.V880V|TIAM2_uc003qqf.2_Silent_p.V694V|TIAM2_uc011efl.1_Silent_p.V654V|TIAM2_uc003qqg.2_Silent_p.V630V|TIAM2_uc003qqh.2_Silent_p.V243V	p.V1318V	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	24	5227	+		Ovarian(120;0.196)	1318					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	c.3954A>C	CCDS34558.1																																																																																				0.423	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
HECW1	23072	broad.mit.edu	37	7	43485067	43485067	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:43485067G>A	ENST00000395891.2	+	11	2901	c.2296G>A	c.(2296-2298)Gct>Act	p.A766T	HECW1_ENST00000453890.1_Missense_Mutation_p.A766T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	766					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CACGAACGGCGCTGGGCCGTG	0.652																																						uc003tid.1																			0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(2296-2298)GCT>ACT		NEDD4-like ubiquitin-protein ligase 1							22.0	26.0	25.0					7																	43485067		1965	4139	6104	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43485067G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2296G>A	7.37:g.43485067G>A	ENSP00000379228:p.Ala766Thr					HECW1_uc011kbi.1_Missense_Mutation_p.A766T	p.A766T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	2901	+			766					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.2296G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921364	0.33908	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.31510	1.49;1.51	4.89	-1.37	0.09056	.	0.762936	0.13055	N	0.417368	T	0.11196	0.0273	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.25502	-1.0130	10	0.16896	T	0.51	.	0.8224	0.01114	0.2164:0.3255:0.195:0.2631	.	766;766	B4DH42;Q76N89	.;HECW1_HUMAN	T	766	ENSP00000379228:A766T;ENSP00000407774:A766T	ENSP00000265522:A766T	A	+	1	0	HECW1	43451592	0.023000	0.18921	0.000000	0.03702	0.988000	0.76386	0.982000	0.29539	0.106000	0.17784	0.591000	0.81541	GCT		0.652	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
ZPBP	11055	broad.mit.edu	37	7	50121433	50121433	+	Nonsense_Mutation	SNP	G	G	A	rs201826735		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:50121433G>A	ENST00000046087.2	-	3	340	c.271C>T	c.(271-273)Cga>Tga	p.R91*	ZPBP_ENST00000419417.1_Nonsense_Mutation_p.R91*	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	91					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TCAGCATTTCGCAGTTGTTGC	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		18386	0.0		0.001	False		,,,				2504	0.0					uc003tou.2																			0					0						c.(271-273)CGA>TGA		zona pellucida binding protein isoform 1							134.0	125.0	128.0					7																	50121433		2203	4300	6503	SO:0001587	stop_gained	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50121433G>A	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.271C>T	7.37:g.50121433G>A	ENSP00000046087:p.Arg91*					ZPBP_uc011kci.1_Nonsense_Mutation_p.R17*|ZPBP_uc010kyw.2_Nonsense_Mutation_p.R91*	p.R91*	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			3	341	-	Glioma(55;0.08)|all_neural(89;0.245)		91					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Nonsense_Mutation	SNP	ENST00000046087.2	37	c.271C>T	CCDS5509.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.17	2.454518	0.43634	.	.	ENSG00000042813	ENST00000046087;ENST00000419417;ENST00000450231	.	.	.	5.1	2.03	0.26663	.	0.000000	0.44483	D	0.000447	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.3442	11.5046	0.50459	0.0:0.0:0.3868:0.6132	.	.	.	.	X	91;91;52	.	.	R	-	1	2	ZPBP	50091979	0.994000	0.37717	0.653000	0.29593	0.501000	0.33797	0.292000	0.19011	0.514000	0.28300	-0.379000	0.06801	CGA		0.338	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009	
EGFR	1956	broad.mit.edu	37	7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:55221710C>T	ENST00000275493.2	+	7	931	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_ENST00000342916.3_Missense_Mutation_p.R252C|EGFR_ENST00000442591.1_Missense_Mutation_p.R252C|EGFR_ENST00000420316.2_Missense_Mutation_p.R252C|EGFR_ENST00000454757.2_Missense_Mutation_p.R199C|EGFR_ENST00000455089.1_Missense_Mutation_p.R207C|EGFR_ENST00000344576.2_Missense_Mutation_p.R252C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252			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)	p.R252C(1)		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)	ATAGGTCTGCCGCAAATTCCG	0.582		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		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		1	Substitution - Missense(1)	p.V30_R297>G(5)|p.R252C(1)	central_nervous_system(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(754-756)CGC>TGC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						181.0	144.0	157.0					7																	55221710		2203	4300	6503	SO:0001583	missense	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.chr7:55221710C>T		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.754C>T	7.37:g.55221710C>T	ENSP00000275493:p.Arg252Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.R252C|EGFR_uc003tqi.2_Missense_Mutation_p.R252C|EGFR_uc003tqj.2_Missense_Mutation_p.R252C|EGFR_uc010kzg.1_Missense_Mutation_p.R207C|EGFR_uc011kco.1_Missense_Mutation_p.R199C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.R252C	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)		7	1000	+	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)		252			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.754C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045674	0.55110	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.81	5.81	0.92471	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.164275	0.53938	D	0.000045	D	0.95101	0.8413	M	0.92649	3.33	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0	P;P;D;D;D	0.71656	0.893;0.907;0.974;0.923;0.945	D	0.95378	0.8470	10	0.59425	D	0.04	.	18.6435	0.91402	0.0:1.0:0.0:0.0	.	207;252;252;252;252	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	207;252;122;252;252;252;252;199;46	ENSP00000415559:R207C;ENSP00000342376:R252C;ENSP00000345973:R252C;ENSP00000413843:R252C;ENSP00000275493:R252C;ENSP00000410031:R252C;ENSP00000395243:R199C	ENSP00000275493:R252C	R	+	1	0	EGFR	55189204	1.000000	0.71417	0.985000	0.45067	0.150000	0.21749	3.793000	0.55484	2.752000	0.94435	0.467000	0.42956	CGC		0.582	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
CCDC146	57639	broad.mit.edu	37	7	76922321	76922321	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:76922321T>C	ENST00000285871.4	+	18	2595	c.2468T>C	c.(2467-2469)cTt>cCt	p.L823P	CCDC146_ENST00000431197.1_Missense_Mutation_p.L537P|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	823										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ATGATGGCTCTTGTTGCTGAG	0.398																																						uc003uga.2																			0				ovary(1)|central_nervous_system(1)	2						c.(2467-2469)CTT>CCT		coiled-coil domain containing 146							104.0	99.0	101.0					7																	76922321		2203	4300	6503	SO:0001583	missense	57639							g.chr7:76922321T>C	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.2468T>C	7.37:g.76922321T>C	ENSP00000285871:p.Leu823Pro					CCDC146_uc010ldp.2_Missense_Mutation_p.L537P|CCDC146_uc003ugc.2_Missense_Mutation_p.L160P	p.L823P	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN			18	2595	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	823			Potential.		A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.2468T>C	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.400391	0.62177	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.43688	0.94;0.94	5.66	5.66	0.87406	.	0.428099	0.24949	N	0.034310	T	0.60353	0.2262	M	0.72118	2.19	0.58432	D	0.999999	D;D	0.58620	0.978;0.983	P;P	0.59889	0.837;0.865	T	0.63976	-0.6515	10	0.66056	D	0.02	-1.3257	14.7096	0.69218	0.0:0.0:0.0:1.0	.	537;823	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	P	823;537	ENSP00000285871:L823P;ENSP00000413885:L537P	ENSP00000285871:L823P	L	+	2	0	AC007000.1	76760257	0.992000	0.36948	0.989000	0.46669	0.621000	0.37620	5.137000	0.64789	2.147000	0.66899	0.460000	0.39030	CTT		0.398	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879	
PCLO	27445	broad.mit.edu	37	7	82387898	82387898	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:82387898G>A	ENST00000333891.9	-	25	15759	c.15422C>T	c.(15421-15423)aCg>aTg	p.T5141M		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTTCAATGCGTTTGAGTAGG	0.378																																						uc003uhx.2																			0				ovary(7)	7						c.(15421-15423)ACG>ATG		piccolo isoform 1							271.0	262.0	265.0					7																	82387898		1862	4088	5950	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82387898G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.15422C>T	7.37:g.82387898G>A	ENSP00000334319:p.Thr5141Met						p.T5141M	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			25	15711	-			5064						Missense_Mutation	SNP	ENST00000333891.9	37	c.15422C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449970	0.43531	.	.	ENSG00000186472	ENST00000333891	T	0.18657	2.2	5.51	5.51	0.81932	.	0.122741	0.29972	U	0.010733	T	0.31513	0.0799	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	P	0.60886	0.88	T	0.11616	-1.0580	10	0.87932	D	0	.	19.4158	0.94697	0.0:0.0:1.0:0.0	.	5141	Q9Y6V0-5	.	M	5141	ENSP00000334319:T5141M	ENSP00000334319:T5141M	T	-	2	0	PCLO	82225834	1.000000	0.71417	0.970000	0.41538	0.466000	0.32739	4.007000	0.57093	2.598000	0.87819	0.585000	0.79938	ACG		0.378	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
SLC26A3	1811	broad.mit.edu	37	7	107427951	107427951	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:107427951G>C	ENST00000340010.5	-	7	923	c.739C>G	c.(739-741)Cta>Gta	p.L247V	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L212V	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	247					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ACAGAGTATAGTACCTACAAT	0.323																																						uc003ver.2																			0				ovary(3)|skin(1)	4						c.(739-741)CTA>GTA		solute carrier family 26, member 3							74.0	76.0	75.0					7																	107427951		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107427951G>C	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.739C>G	7.37:g.107427951G>C	ENSP00000345873:p.Leu247Val					SLC26A3_uc003ves.2_Missense_Mutation_p.L212V	p.L247V	NM_000111	NP_000102	P40879	S26A3_HUMAN			7	950	-			247						Missense_Mutation	SNP	ENST00000340010.5	37	c.739C>G	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906782	0.33628	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.93811	-3.29;-3.29	5.4	5.4	0.78164	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.94807	0.8323	L	0.51914	1.62	0.58432	D	0.999999	D;D	0.63880	0.993;0.965	P;D	0.63877	0.839;0.919	D	0.92693	0.6168	10	0.22109	T	0.4	.	17.7246	0.88361	0.0:0.0:1.0:0.0	.	212;247	G5E9U3;P40879	.;S26A3_HUMAN	V	212;247	ENSP00000415817:L212V;ENSP00000345873:L247V	ENSP00000345873:L247V	L	-	1	2	SLC26A3	107215187	0.997000	0.39634	0.699000	0.30290	0.096000	0.18686	3.403000	0.52615	2.683000	0.91414	0.655000	0.94253	CTA		0.323	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111	
KEL	3792	broad.mit.edu	37	7	142649696	142649696	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:142649696C>A	ENST00000355265.2	-	10	1577	c.1103G>T	c.(1102-1104)gGg>gTg	p.G368V	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	368					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CACCACCAGCCCTAAGATCAT	0.537																																						uc003wcb.2																			0				ovary(3)|central_nervous_system(1)	4						c.(1102-1104)GGG>GTG		Kell blood group, metallo-endopeptidase							93.0	79.0	83.0					7																	142649696		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142649696C>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1103G>T	7.37:g.142649696C>A	ENSP00000347409:p.Gly368Val						p.G368V	NM_000420	NP_000411	P23276	KELL_HUMAN			10	1313	-	Melanoma(164;0.059)		368			Extracellular (Potential).		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1103G>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700067	0.68501	.	.	ENSG00000197993	ENST00000355265	T	0.73363	-0.74	5.55	4.65	0.58169	Peptidase M13 (1);	0.111381	0.40640	N	0.001058	D	0.82481	0.5046	M	0.68317	2.08	0.44789	D	0.997799	D	0.69078	0.997	D	0.70016	0.967	T	0.82894	-0.0231	10	0.72032	D	0.01	-0.3472	10.5607	0.45144	0.0:0.9111:0.0:0.0889	.	368	P23276	KELL_HUMAN	V	368	ENSP00000347409:G368V	ENSP00000347409:G368V	G	-	2	0	KEL	142359818	0.037000	0.19845	0.951000	0.38953	0.828000	0.46876	1.941000	0.40233	2.894000	0.99253	0.655000	0.94253	GGG		0.537	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
KCNH2	3757	broad.mit.edu	37	7	150649545	150649545	+	Missense_Mutation	SNP	C	C	T	rs370637245		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:150649545C>T	ENST00000262186.5	-	6	1926	c.1525G>A	c.(1525-1527)Gac>Aac	p.D509N	KCNH2_ENST00000330883.4_Missense_Mutation_p.D169N|KCNH2_ENST00000392968.2_Missense_Mutation_p.D413N|KCNH2_ENST00000430723.3_Missense_Mutation_p.D509N	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	509					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	ATGAGCAGGTCGAAGGGGATG	0.632																																					GBM(137;110 1844 13671 20123 45161)	uc003wic.2																			0				skin(3)|ovary(1)	4						c.(1525-1527)GAC>AAC		voltage-gated potassium channel, subfamily H,	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	82.0	70.0	74.0		1525,505,1525,505	4.7	1.0	7		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	KCNH2	NM_000238.3,NM_001204798.1,NM_172056.2,NM_172057.2	23,23,23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	509/1160,169/549,509/889,169/820	150649545	1,13005	2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150649545C>T	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1525G>A	7.37:g.150649545C>T	ENSP00000262186:p.Asp509Asn					KCNH2_uc003wib.2_Missense_Mutation_p.D169N|KCNH2_uc011kux.1_Missense_Mutation_p.D413N|KCNH2_uc003wid.2_Missense_Mutation_p.D169N|KCNH2_uc003wie.2_Missense_Mutation_p.D509N	p.D509N	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	1538	-	all_neural(206;0.219)		509			Helical; Name=Segment S3; (Potential).		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.1525G>A	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233277	0.95207	0.0	1.16E-4	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32	4.71	4.71	0.59529	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	M	0.90759	3.145	0.52099	D	0.999944	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.996;0.989;0.989;0.981	D	0.96242	0.9176	10	0.87932	D	0	.	15.1618	0.72791	0.0:1.0:0.0:0.0	.	413;509;169;509;169	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	N	169;413;509;169;509	ENSP00000328531:D169N;ENSP00000376695:D413N;ENSP00000262186:D509N;ENSP00000387657:D509N	ENSP00000262186:D509N	D	-	1	0	KCNH2	150280478	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.660000	0.83776	2.184000	0.69523	0.478000	0.44815	GAC		0.632	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238	
CYP7B1	9420	broad.mit.edu	37	8	65517309	65517309	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr8:65517309C>T	ENST00000310193.3	-	5	1336	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	388					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GTCTCCCTTTCGCACACAGTA	0.453																																						uc003xvj.2																			0				ovary(3)	3						c.(1162-1164)CGA>CAA		cytochrome P450, family 7, subfamily B,							143.0	138.0	139.0					8																	65517309		2203	4300	6503	SO:0001583	missense	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65517309C>T	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1163G>A	8.37:g.65517309C>T	ENSP00000310721:p.Arg388Gln						p.R388Q	NM_004820	NP_004811	O75881	CP7B1_HUMAN			5	1367	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	388					B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	c.1163G>A	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718784	0.89205	.	.	ENSG00000172817	ENST00000310193	D	0.85484	-1.99	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.92567	0.7639	M	0.70787	2.145	0.53688	D	0.999976	D	0.89917	1.0	D	0.97110	1.0	D	0.92048	0.5646	10	0.87932	D	0	-14.1067	20.8794	0.99867	0.0:1.0:0.0:0.0	.	388	O75881	CP7B1_HUMAN	Q	388	ENSP00000310721:R388Q	ENSP00000310721:R388Q	R	-	2	0	CYP7B1	65679863	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CGA		0.453	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1		
RIMS2	9699	broad.mit.edu	37	8	104922392	104922392	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr8:104922392C>T	ENST00000436393.2	+	3	1230	c.989C>T	c.(988-990)aCg>aTg	p.T330M	RIMS2_ENST00000406091.3_Missense_Mutation_p.T552M|RIMS2_ENST00000507740.1_Missense_Mutation_p.T360M|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	630					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTGGATCATACGTCTTGGCAT	0.388										HNSCC(12;0.0054)																												uc003yls.2																			0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(988-990)ACG>ATG		regulating synaptic membrane exocytosis 2							190.0	183.0	185.0					8																	104922392		1919	4124	6043	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104922392C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.989C>T	8.37:g.104922392C>T	ENSP00000390665:p.Thr330Met	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.T552M|RIMS2_uc003ylw.2_Missense_Mutation_p.T360M|RIMS2_uc003ylq.2_Missense_Mutation_p.T360M|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_5'Flank	p.T330M	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		3	1230	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.989C>T		.	.	.	.	.	.	.	.	.	.	C	18.87	3.714561	0.68730	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000515551;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.19250	2.16;2.64;2.22;2.3;2.23;2.61	5.24	5.24	0.73138	.	.	.	.	.	T	0.25121	0.0610	L	0.34521	1.04	0.80722	D	1	D;P;P	0.53885	0.963;0.824;0.941	B;B;P	0.46452	0.346;0.312;0.517	T	0.01839	-1.1263	9	0.87932	D	0	.	19.1853	0.93641	0.0:1.0:0.0:0.0	.	330;360;552	D6RA03;Q9UQ26-3;F8WD47	.;.;.	M	552;583;552;360;360;360;330	ENSP00000427018:T552M;ENSP00000384892:T552M;ENSP00000425205:T360M;ENSP00000423559:T360M;ENSP00000386228:T360M;ENSP00000390665:T330M	ENSP00000332184:T583M	T	+	2	0	RIMS2	104991568	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.937000	0.70162	2.610000	0.88304	0.650000	0.86243	ACG		0.388	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
CSMD3	114788	broad.mit.edu	37	8	113988286	113988286	+	Silent	SNP	A	A	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr8:113988286A>T	ENST00000297405.5	-	7	1366	c.1122T>A	c.(1120-1122)ccT>ccA	p.P374P	CSMD3_ENST00000352409.3_Silent_p.P374P|CSMD3_ENST00000343508.3_Silent_p.P334P|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	374						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAACATCTGCAGGTGTGCTAG	0.493										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(1120-1122)CCT>CCA		CUB and Sushi multiple domains 3 isoform 1							180.0	163.0	169.0					8																	113988286		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113988286A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1122T>A	8.37:g.113988286A>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Silent_p.P334P|CSMD3_uc011lhx.1_Intron	p.P374P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			7	1281	-			374			Extracellular (Potential).		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.1122T>A	CCDS6315.1																																																																																				0.493	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
COL14A1	7373	broad.mit.edu	37	8	121326264	121326264	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr8:121326264C>T	ENST00000297848.3	+	38	4819	c.4549C>T	c.(4549-4551)Ccc>Tcc	p.P1517S	COL14A1_ENST00000247781.3_Missense_Mutation_p.P1422S|COL14A1_ENST00000309791.4_Missense_Mutation_p.P1517S	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCAAGGAATGCCCGTGAGTTG	0.468																																						uc003yox.2																			0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(4549-4551)CCC>TCC		collagen, type XIV, alpha 1 precursor							119.0	111.0	114.0					8																	121326264		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121326264C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4549C>T	8.37:g.121326264C>T	ENSP00000297848:p.Pro1517Ser					COL14A1_uc003yoz.2_Missense_Mutation_p.P482S	p.P1517S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		38	4814	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1517			Triple-helical region 1 (COL2).			Missense_Mutation	SNP	ENST00000297848.3	37	c.4549C>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920614	0.73213	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.93953	-3.32;-3.32;-3.32	5.97	5.97	0.96955	.	0.047611	0.85682	D	0.000000	D	0.96722	0.8930	M	0.80183	2.485	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	D	0.95825	0.8853	10	0.44086	T	0.13	.	19.1953	0.93686	0.0:1.0:0.0:0.0	.	1517	Q05707	COEA1_HUMAN	S	1517;1517;1422	ENSP00000311809:P1517S;ENSP00000297848:P1517S;ENSP00000247781:P1422S	ENSP00000247781:P1422S	P	+	1	0	COL14A1	121395445	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	5.960000	0.70348	2.834000	0.97654	0.650000	0.86243	CCC		0.468	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
CXorf23	256643	broad.mit.edu	37	X	19968952	19968952	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:19968952C>T	ENST00000379682.4	-	7	1697	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	CXorf23_ENST00000356980.3_Missense_Mutation_p.R555Q|CXorf23_ENST00000379687.3_Missense_Mutation_p.R555Q			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	555						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						AATGTCATGTCGTAGGTCATT	0.368																																						uc004czp.2																			0				lung(1)|skin(1)	2						c.(1663-1665)CGA>CAA		hypothetical protein LOC256643							258.0	184.0	209.0					X																	19968952		2203	4300	6503	SO:0001583	missense	256643					mitochondrion		g.chrX:19968952C>T	AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.1664G>A	X.37:g.19968952C>T	ENSP00000369004:p.Arg555Gln					CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Missense_Mutation_p.R120Q|CXorf23_uc004czo.2_Missense_Mutation_p.R505Q	p.R555Q	NM_198279	NP_938020	A2AJT9	CX023_HUMAN			7	1664	-			555					A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37	c.1664G>A		.	.	.	.	.	.	.	.	.	.	C	26.1	4.701502	0.88924	.	.	ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038	T;T;T	0.60672	0.17;0.17;0.17	5.35	5.35	0.76521	.	.	.	.	.	T	0.75221	0.3820	M	0.78049	2.395	0.36651	D	0.877418	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.69824	0.918;0.938;0.966	T	0.80797	-0.1222	8	.	.	.	.	14.9912	0.71390	0.0:1.0:0.0:0.0	.	266;555;555	B7ZLM9;A2AJT9-2;A2AJT9	.;.;CX023_HUMAN	Q	555;555;555;443	ENSP00000369009:R555Q;ENSP00000369004:R555Q;ENSP00000349470:R555Q	.	R	-	2	0	CXorf23	19878873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.600000	0.61083	2.377000	0.81083	0.600000	0.82982	CGA		0.368	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279	
OPHN1	4983	broad.mit.edu	37	X	67421527	67421527	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:67421527T>C	ENST00000355520.5	-	11	1600	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	OPHN1_ENST00000540071.1_Missense_Mutation_p.Y320C	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	320	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TCTCACACAGTACTTCAGTGT	0.418																																						uc004dww.3																			0				ovary(2)	2						c.(958-960)TAC>TGC		oligophrenin 1							148.0	124.0	132.0					X																	67421527		2203	4300	6503	SO:0001583	missense	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67421527T>C	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.959A>G	X.37:g.67421527T>C	ENSP00000347710:p.Tyr320Cys					OPHN1_uc011mpg.1_Missense_Mutation_p.Y320C	p.Y320C	NM_002547	NP_002538	O60890	OPHN1_HUMAN			11	1253	-			320			PH.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	c.959A>G	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.220154	0.58560	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.42900	0.96;0.96	4.82	4.82	0.62117	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.119013	0.64402	D	0.000019	T	0.32315	0.0825	N	0.14661	0.345	0.34465	D	0.702146	D;P	0.61697	0.99;0.875	P;P	0.50192	0.634;0.533	T	0.50233	-0.8852	10	0.87932	D	0	.	7.8403	0.29395	0.0:0.0:0.2079:0.7921	.	320;320	F5H2E3;O60890	.;OPHN1_HUMAN	C	320	ENSP00000347710:Y320C;ENSP00000438617:Y320C	ENSP00000347710:Y320C	Y	-	2	0	OPHN1	67338252	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.915000	0.56409	1.900000	0.55004	0.486000	0.48141	TAC		0.418	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547	
LPAR4	2846	broad.mit.edu	37	X	78011289	78011289	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:78011289C>A	ENST00000435339.3	+	2	1309	c.923C>A	c.(922-924)cCt>cAt	p.P308H		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	308					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TGTTTTGACCCTTTCATCTAT	0.418																																						uc010nme.2																			0				ovary(3)	3						c.(922-924)CCT>CAT		lysophosphatidic acid receptor 4							197.0	159.0	172.0					X																	78011289		2203	4300	6503	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78011289C>A	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.923C>A	X.37:g.78011289C>A	ENSP00000408205:p.Pro308His						p.P308H	NM_005296	NP_005287	Q99677	LPAR4_HUMAN			2	1328	+			308			Helical; Name=7; (Potential).		B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.923C>A	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212509	0.58452	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	D;D	0.98807	-5.15;-5.15	3.99	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	D	0.99423	0.9796	H	0.97732	4.065	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.98220	1.0477	10	0.87932	D	0	.	13.9688	0.64225	0.0:1.0:0.0:0.0	.	308	Q99677	LPAR4_HUMAN	H	308	ENSP00000408205:P308H;ENSP00000362398:P308H	ENSP00000362398:P308H	P	+	2	0	LPAR4	77897945	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.233000	0.78125	1.832000	0.53329	0.422000	0.28245	CCT		0.418	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296	
POF1B	79983	broad.mit.edu	37	X	84634326	84634326	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:84634326T>C	ENST00000262753.4	-	2	279	c.134A>G	c.(133-135)aAa>aGa	p.K45R	POF1B_ENST00000373145.3_Missense_Mutation_p.K45R	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	45						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CACTACATTTTTTTCTGGAGG	0.577																																						uc004eer.2																			0					0						c.(133-135)AAA>AGA		premature ovarian failure, 1B							82.0	66.0	72.0					X																	84634326		2203	4300	6503	SO:0001583	missense	79983						actin binding	g.chrX:84634326T>C	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.134A>G	X.37:g.84634326T>C	ENSP00000262753:p.Lys45Arg					POF1B_uc004ees.2_Missense_Mutation_p.K45R	p.K45R	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN			2	280	-			45					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	c.134A>G	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.845058	0.51164	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.11169	2.8;2.8	5.67	5.67	0.87782	.	0.000000	0.49916	D	0.000130	T	0.10981	0.0268	L	0.47716	1.5	0.27846	N	0.940913	P;P	0.40731	0.728;0.59	B;B	0.36378	0.223;0.223	T	0.15235	-1.0444	10	0.87932	D	0	.	11.1407	0.48400	0.0:0.0:0.0:1.0	.	45;45	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	R	45	ENSP00000262753:K45R;ENSP00000362238:K45R	ENSP00000262753:K45R	K	-	2	0	POF1B	84520982	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	1.338000	0.33873	1.903000	0.55091	0.437000	0.28790	AAA		0.577	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921	
GUCY2F	2986	broad.mit.edu	37	X	108673542	108673542	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:108673542G>A	ENST00000218006.2	-	8	2076	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	595	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ATACCATTTCGAACACATCAC	0.388																																						uc004eod.3																			0				lung(4)|breast(3)|central_nervous_system(1)	8						c.(1783-1785)TTC>TTT		guanylate cyclase 2F precursor							197.0	196.0	197.0					X																	108673542		2203	4300	6503	SO:0001819	synonymous_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108673542G>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1785C>T	X.37:g.108673542G>A						GUCY2F_uc011msq.1_RNA	p.F595F	NM_001522	NP_001513	P51841	GUC2F_HUMAN			8	2061	-			595			Protein kinase.|Cytoplasmic (Potential).		Q9UJF1	Silent	SNP	ENST00000218006.2	37	c.1785C>T	CCDS14545.1																																																																																				0.388	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522	
LAMP2	3920	broad.mit.edu	37	X	119565295	119565295	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:119565295G>A	ENST00000200639.4	-	9	1252	c.1116C>T	c.(1114-1116)gaC>gaT	p.D372D	LAMP2_ENST00000538785.1_Intron|LAMP2_ENST00000434600.2_Intron			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	372	Second lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						GGAAGTTGTCGTCATCTGCAC	0.438																																						uc004est.3																			0				ovary(1)	1						c.(1114-1116)GAC>GAT		lysosomal-associated membrane protein 2 isoform							167.0	152.0	157.0					X																	119565295		2203	4300	6503	SO:0001819	synonymous_variant	3920				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119565295G>A	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.1116C>T	X.37:g.119565295G>A						LAMP2_uc004ess.3_Intron|LAMP2_uc011mtz.1_Intron	p.D372D	NM_002294	NP_002285	P13473	LAMP2_HUMAN			9	1296	-			372			Lumenal (Potential).|Second lumenal domain.		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Silent	SNP	ENST00000200639.4	37	c.1116C>T	CCDS14599.1																																																																																				0.438	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1		
GRIA3	2892	broad.mit.edu	37	X	122532507	122532507	+	Silent	SNP	C	C	T	rs148850386	byFrequency	TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:122532507C>T	ENST00000371251.1	+	7	985	c.933C>T	c.(931-933)caC>caT	p.H311H	GRIA3_ENST00000541091.1_Silent_p.H295H|GRIA3_ENST00000542149.1_Silent_p.H311H|GRIA3_ENST00000264357.5_Silent_p.H311H|GRIA3_ENST00000371256.5_Silent_p.H311H			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	311					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CATTGACACACGACGCAATAC	0.423																																						uc004etq.3																			0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(931-933)CAC>CAT		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)	C	,	2,3833		0,1,1,1631,570	95.0	76.0	83.0		933,933	-4.0	0.1	X	dbSNP_134	83	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous	GRIA3	NM_000828.4,NM_007325.4	,	0,1,1,4059,2442	TT,TC,T,CC,C		0.0,0.0522,0.0189	,	311/895,311/895	122532507	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122532507C>T	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.933C>T	X.37:g.122532507C>T						GRIA3_uc004etr.3_Silent_p.H311H|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Silent_p.H295H	p.H311H	NM_007325	NP_015564	P42263	GRIA3_HUMAN			8	1226	+			311			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	c.933C>T	CCDS14604.1																																																																																				0.423	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828	
SMARCA1	6594	broad.mit.edu	37	X	128657225	128657225	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:128657225G>A	ENST00000371122.4	-	1	252	c.123C>T	c.(121-123)gcC>gcT	p.A41A	SMARCA1_ENST00000371123.1_Silent_p.A41A|SMARCA1_ENST00000371121.3_Silent_p.A41A|SMARCA1_ENST00000478420.1_5'Flank	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	41					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CGGTGGCCGCGGCGGCCGCTC	0.667																																						uc004eun.3																			0				ovary(3)|skin(1)	4						c.(121-123)GCC>GCT		SWI/SNF-related matrix-associated							114.0	98.0	103.0					X																	128657225		2202	4300	6502	SO:0001819	synonymous_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128657225G>A	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.123C>T	X.37:g.128657225G>A						SMARCA1_uc004eup.3_Silent_p.A41A|SMARCA1_uc011muk.1_Silent_p.A41A|SMARCA1_uc011mul.1_Silent_p.A41A	p.A41A	NM_003069	NP_003060	P28370	SMCA1_HUMAN			1	236	-			41					Q5JV41|Q5JV42	Silent	SNP	ENST00000371122.4	37	c.123C>T	CCDS14612.1																																																																																				0.667	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069	
ZNF280C	55609	broad.mit.edu	37	X	129370597	129370598	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:129370597_129370598delTG	ENST00000370978.4	-	7	662_663	c.509_510delCA	c.(508-510)tcafs	p.S170fs		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	170	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCAACACATATGAAGTATTTTT	0.312																																						uc004evm.2																			0				skin(2)|ovary(1)	3						c.(508-510)TCAfs		zinc finger protein 280C																																				SO:0001589	frameshift_variant	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129370597_129370598delTG	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.509_510delCA	X.37:g.129370597_129370598delTG	ENSP00000360017:p.Ser170fs					ZNF280C_uc010nrf.1_Frame_Shift_Del_p.S170fs	p.S170fs	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN			7	663_664	-			170			Ser-rich.		A8K2V8|Q9NXR3	Frame_Shift_Del	DEL	ENST00000370978.4	37	c.509_510delCA	CCDS14622.1																																																																																				0.312	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666	
MAGEC1	9947	broad.mit.edu	37	X	140995644	140995644	+	Silent	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:140995644C>T	ENST00000285879.4	+	4	2740	c.2454C>T	c.(2452-2454)ccC>ccT	p.P818P	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	818										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCTTCCCCTCCTCCACTT	0.557										HNSCC(15;0.026)																												uc004fbt.2																			0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2452-2454)CCC>CCT		melanoma antigen family C, 1							138.0	143.0	142.0					X																	140995644		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140995644C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2454C>T	X.37:g.140995644C>T		HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.P818P	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2740	+	Acute lymphoblastic leukemia(192;6.56e-05)		818					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.2454C>T	CCDS35417.1																																																																																				0.557	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
AFF2	2334	broad.mit.edu	37	X	148035181	148035181	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:148035181C>T	ENST00000370460.2	+	10	1948	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	AFF2_ENST00000370457.5_Missense_Mutation_p.S457L|AFF2_ENST00000286437.5_Missense_Mutation_p.S131L|AFF2_ENST00000342251.3_Missense_Mutation_p.S457L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	490					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGCGAATCGGAGAGCAGC	0.557																																						uc004fcp.2																			0				ovary(3)|pancreas(2)	5						c.(1468-1470)TCG>TTG		fragile X mental retardation 2							107.0	105.0	105.0					X																	148035181		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148035181C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1469C>T	X.37:g.148035181C>T	ENSP00000359489:p.Ser490Leu					AFF2_uc004fcq.2_Missense_Mutation_p.S480L|AFF2_uc004fcr.2_Missense_Mutation_p.S451L|AFF2_uc011mxb.1_Missense_Mutation_p.S455L|AFF2_uc004fcs.2_Missense_Mutation_p.S457L|AFF2_uc011mxc.1_Missense_Mutation_p.S131L	p.S490L	NM_002025	NP_002016	P51816	AFF2_HUMAN			10	1948	+	Acute lymphoblastic leukemia(192;6.56e-05)		490					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1469C>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157487	0.78114	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.87470	0.6185	M	0.83312	2.635	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.997;0.997;0.997;0.997;0.998	D	0.88543	0.3111	10	0.52906	T	0.07	.	18.1034	0.89513	0.0:1.0:0.0:0.0	.	131;455;457;451;480;490	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	L	490;457;457;131	ENSP00000359489:S490L;ENSP00000359486:S457L;ENSP00000345459:S457L;ENSP00000286437:S131L	ENSP00000286437:S131L	S	+	2	0	AFF2	147842881	1.000000	0.71417	0.965000	0.40720	0.193000	0.23685	6.996000	0.76263	2.211000	0.71520	0.600000	0.82982	TCG		0.557	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
