#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	2411398	2411398	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr1:2411398G>A	ENST00000419816.2	+	3	771	c.497G>A	c.(496-498)cGc>cAc	p.R166H	PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.R166H|PLCH2_ENST00000378486.3_Missense_Mutation_p.R166H|PLCH2_ENST00000449969.1_Missense_Mutation_p.R139H			O75038	PLCH2_HUMAN	phospholipase C, eta 2	166					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)		CTGGCTCGCCGCCAGCGCACC	0.687																																						uc001aji.1																			0				central_nervous_system(3)|ovary(1)|skin(1)	5						c.(496-498)CGC>CAC		phospholipase C, eta 2							24.0	28.0	27.0					1																	2411398		2099	4155	6254	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2411398G>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.497G>A	1.37:g.2411398G>A	ENSP00000389803:p.Arg166His					PLCH2_uc010nyz.1_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	p.R166H	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	771	+	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)	166					A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.497G>A		.	.	.	.	.	.	.	.	.	.	G	20.7	4.032012	0.75504	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889	T;T;T	0.25414	1.89;1.87;1.8	4.92	4.92	0.64577	.	.	.	.	.	T	0.49677	0.1571	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	T	0.52351	-0.8587	9	0.72032	D	0.01	.	17.4485	0.87585	0.0:0.0:1.0:0.0	.	166	O75038	PLCH2_HUMAN	H	139;166;166;13	ENSP00000397289:R139H;ENSP00000367747:R166H;ENSP00000367749:R166H	ENSP00000341313:R13H	R	+	2	0	PLCH2	2401258	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.515000	0.98015	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	
PTPN22	26191	broad.mit.edu	37	1	114399229	114399229	+	Missense_Mutation	SNP	G	G	A	rs115552198	byFrequency	TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr1:114399229G>A	ENST00000359785.5	-	6	556	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	PTPN22_ENST00000534519.1_5'Flank|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000525799.1_Intron|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.R141C|PTPN22_ENST00000538253.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.R141C	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	141	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCAGTAGCGCTCACACTTT	0.438													G|||	6	0.00119808	0.0045	0.0	5008	,	,		18441	0.0		0.0	False		,,,				2504	0.0					uc001eds.2																			0				kidney(2)|lung(1)|skin(1)	4						c.(421-423)CGC>TGC		protein tyrosine phosphatase, non-receptor type		G	CYS/ARG,CYS/ARG,CYS/ARG	8,4398	14.3+/-33.2	0,8,2195	108.0	101.0	103.0		421,421,421	5.7	1.0	1	dbSNP_132	103	0,8600		0,0,4300	yes	missense,missense,missense	PTPN22	NM_001193431.1,NM_012411.4,NM_015967.5	180,180,180	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	probably-damaging,probably-damaging,probably-damaging	141/780,141/753,141/808	114399229	8,12998	2203	4300	6503	SO:0001583	missense	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114399229G>A	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.421C>T	1.37:g.114399229G>A	ENSP00000352833:p.Arg141Cys					uc001edv.1_5'Flank|PTPN22_uc009wgq.2_Missense_Mutation_p.R141C|PTPN22_uc010owo.1_Intron|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.R141C|PTPN22_uc009wgs.2_Intron|PTPN22_uc001edu.2_Missense_Mutation_p.R141C	p.R141C	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	551	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	141			Tyrosine-protein phosphatase.		A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.421C>T	CCDS863.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	29.0	4.972155	0.92919	0.001816	0.0	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000420377;ENST00000354605	D;T;D	0.84146	-1.81;2.67;-1.81	5.65	5.65	0.86999	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.92652	0.7665	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	0.985;1.0;1.0;1.0	P;D;D;D	0.97110	0.808;1.0;0.999;0.999	D	0.93235	0.6621	10	0.87932	D	0	.	18.5057	0.90896	0.0:0.0:1.0:0.0	.	141;141;141;141	E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;PTN22_HUMAN	C	141	ENSP00000352833:R141C;ENSP00000435176:R141C;ENSP00000388229:R141C	ENSP00000346621:R141C	R	-	1	0	PTPN22	114200752	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.033000	0.76504	2.660000	0.90430	0.467000	0.42956	CGC		0.438	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967	
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.HS1901fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515																																						uc001ezw.3																			1	Deletion - Frameshift(1)		large_intestine(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(5701-5706)CACAGCfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324558_152324559delTG	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5703_5704delCA	1.37:g.152324566_152324567delTG	ENSP00000373370:p.His1901fs					uc001ezv.2_Intron	p.H1901fs	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5776_5777	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1901_1902					Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.5703_5704delCA	CCDS30861.1																																																																																				0.515	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-	rs143136196|rs376331360|rs189081489|rs539310988	byFrequency	TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr1:214557049_214557051delCCT	ENST00000366956.5	-	13	2341_2343	c.2147_2149delAGG	c.(2146-2151)gaggct>gct	p.E716del	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	716	Poly-Glu.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.E716delE(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.1																			1	Deletion - In frame(1)		liver(1)	breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2146-2151)GAGGCT>GCT		protein tyrosine phosphatase, non-receptor type																																				SO:0001651	inframe_deletion	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557049_214557051delCCT	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2147_2149delAGG	1.37:g.214557058_214557060delCCT	ENSP00000355923:p.Glu716del					PTPN14_uc010pty.1_In_Frame_Del_p.E617del	p.E716del	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2418_2420	-			716			Poly-Glu.		Q5VSI0	In_Frame_Del	DEL	ENST00000366956.5	37	c.2147_2149delAGG	CCDS1514.1																																																																																				0.626	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401	
SUV39H2	79723	broad.mit.edu	37	10	14938880	14938880	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr10:14938880G>T	ENST00000354919.6	+	3	213	c.213G>T	c.(211-213)tgG>tgT	p.W71C	SUV39H2_ENST00000313519.5_Missense_Mutation_p.W11C|SUV39H2_ENST00000378325.3_Missense_Mutation_p.W71C	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	71	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						GGAAAGGATGGCCAGATTCTA	0.323																																						uc001inh.2																			0				breast(2)|ovary(1)	3						c.(31-33)TGG>TGT		suppressor of variegation 3-9 homolog 2							68.0	76.0	73.0					10																	14938880		2203	4299	6502	SO:0001583	missense	79723				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr10:14938880G>T	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.213G>T	10.37:g.14938880G>T	ENSP00000346997:p.Trp71Cys					SUV39H2_uc001ing.2_Missense_Mutation_p.W71C|SUV39H2_uc001ini.2_Missense_Mutation_p.W11C|SUV39H2_uc001inj.2_Missense_Mutation_p.W11C	p.W11C	NM_024670	NP_078946	Q9H5I1	SUV92_HUMAN			2	89	+			71			Chromo.		D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	c.33G>T	CCDS53494.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279780	0.59758	.	.	ENSG00000152455	ENST00000433779;ENST00000378325;ENST00000354919;ENST00000313519;ENST00000420416;ENST00000412254	T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.86	5.86	0.93980	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.84723	0.5535	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.77004	0.989;0.895	D	0.84921	0.0854	10	0.72032	D	0.01	.	19.5509	0.95319	0.0:0.0:1.0:0.0	.	71;71	Q9H5I1;Q9H5I1-3	SUV92_HUMAN;.	C	11;71;71;11;11;11	ENSP00000388968:W11C;ENSP00000367576:W71C;ENSP00000346997:W71C;ENSP00000319208:W11C;ENSP00000392201:W11C;ENSP00000388218:W11C	ENSP00000319208:W11C	W	+	3	0	SUV39H2	14978886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.338000	0.52128	2.937000	0.99478	0.650000	0.86243	TGG		0.323	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670	
MKI67	4288	broad.mit.edu	37	10	129901939	129901947	+	In_Frame_Del	DEL	CTCTTTGTG	CTCTTTGTG	-	rs1050767|rs559804532	byFrequency	TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr10:129901939_129901947delCTCTTTGTG	ENST00000368654.3	-	13	8532_8540	c.8157_8165delCACAAAGAG	c.(8155-8166)agcacaaagagg>agg	p.STK2719del	MKI67_ENST00000368653.3_In_Frame_Del_p.STK2359del	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2719	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGAGATGCCTCTTTGTGCTTGCTGTGG	0.483																																						uc001lke.2																			0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(8155-8166)AGCACAAAGAGG>AGG		antigen identified by monoclonal antibody Ki-67																																				SO:0001651	inframe_deletion	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901939_129901947delCTCTTTGTG	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8157_8165delCACAAAGAG	10.37:g.129901939_129901947delCTCTTTGTG	ENSP00000357643:p.Ser2719_Lys2721del					MKI67_uc001lkf.2_In_Frame_Del_p.STK2359del|MKI67_uc009yav.1_In_Frame_Del_p.STK2294del|MKI67_uc009yaw.1_In_Frame_Del_p.STK1869del	p.STK2719del	NM_002417	NP_002408	P46013	KI67_HUMAN			13	8352_8360	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2719_2721			16 X 122 AA approximate repeats.|15.		Q5VWH2	In_Frame_Del	DEL	ENST00000368654.3	37	c.8157_8165delCACAAAGAG	CCDS7659.1																																																																																				0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
SYTL2	54843	broad.mit.edu	37	11	85445443	85445443	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr11:85445443C>T	ENST00000528231.1	-	6	1203	c.926G>A	c.(925-927)aGa>aAa	p.R309K	SYTL2_ENST00000316356.4_Missense_Mutation_p.R310K|SYTL2_ENST00000524452.1_Missense_Mutation_p.R309K|SYTL2_ENST00000527523.1_Missense_Mutation_p.R261K|SYTL2_ENST00000389960.4_Missense_Mutation_p.R309K	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	309					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTCAGAAATTCTCTCATGGAT	0.438																																						uc010rth.1																			0				ovary(2)|large_intestine(1)	3						c.(925-927)AGA>AAA		synaptotagmin-like 2 isoform g							144.0	148.0	147.0					11																	85445443		2203	4299	6502	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85445443C>T	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.926G>A	11.37:g.85445443C>T	ENSP00000431701:p.Arg309Lys					SYTL2_uc010rtg.1_Missense_Mutation_p.R310K|SYTL2_uc010rti.1_Missense_Mutation_p.R309K|SYTL2_uc010rtj.1_Missense_Mutation_p.R261K|SYTL2_uc001pbf.3_Missense_Mutation_p.R309K|SYTL2_uc010rtf.1_Missense_Mutation_p.R167K	p.R309K	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	6	1202	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	309					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.926G>A	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	C	7.694	0.691634	0.15039	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.26518	1.82;1.84;1.84;1.73;1.82	6.06	5.16	0.70880	.	.	.	.	.	T	0.24661	0.0598	L	0.51422	1.61	0.80722	D	1	B;B;B;B;P	0.37663	0.001;0.005;0.0;0.001;0.604	B;B;B;B;B	0.35859	0.004;0.009;0.001;0.004;0.212	T	0.02603	-1.1135	8	.	.	.	.	13.587	0.61937	0.0:0.9277:0.0:0.0723	.	261;309;309;310;167	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	K	309;310;309;261;309	ENSP00000374610:R309K;ENSP00000318803:R310K;ENSP00000431701:R309K;ENSP00000434010:R261K;ENSP00000435238:R309K	.	R	-	2	0	SYTL2	85123091	0.970000	0.33590	1.000000	0.80357	0.989000	0.77384	1.249000	0.32839	1.581000	0.49865	-0.143000	0.13931	AGA		0.438	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927	
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537058.1_Silent_p.T343T	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						uc001ppi.3																			5	Substitution - coding silent(5)		kidney(3)|lung(2)	ovary(2)	2						c.(1027-1029)ACC>ACA		immunoglobulin superfamily, member 4D isoform 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_uc001ppf.3_Intron|CADM1_uc001ppk.3_Intron|CADM1_uc001ppj.3_Intron|CADM1_uc001pph.3_Silent_p.T95T	p.T343T	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1158	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).		Extracellular (Potential).			Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333	
PDZD3	79849	broad.mit.edu	37	11	119058000	119058000	+	Missense_Mutation	SNP	A	A	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr11:119058000A>T	ENST00000531114.1	+	3	1099	c.550A>T	c.(550-552)Agc>Tgc	p.S184C	PDZD3_ENST00000322712.4_Missense_Mutation_p.S118C|PDZD3_ENST00000525131.1_Missense_Mutation_p.S105C|PDZD3_ENST00000355547.5_Missense_Mutation_p.S118C|PDZD3_ENST00000392817.2_Missense_Mutation_p.S184C			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	184	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CATCCGGGCCAGCAGCCCTCG	0.632																																						uc001pwb.2																			0				breast(1)	1						c.(550-552)AGC>TGC		RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;							19.0	18.0	18.0					11																	119058000		2200	4292	6492	SO:0001583	missense	79849				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding	g.chr11:119058000A>T	AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"""PDZ domain containing 2"""	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.550A>T	11.37:g.119058000A>T	ENSP00000431164:p.Ser184Cys					PDZD3_uc001pvy.2_Missense_Mutation_p.S118C|PDZD3_uc001pvz.2_Missense_Mutation_p.S118C|PDZD3_uc010rzd.1_Missense_Mutation_p.S105C|PDZD3_uc001pwa.2_5'UTR	p.S184C			Q86UT5	NHRF4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)	3	1074	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	184			PDZ 1.		Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	ENST00000531114.1	37	c.550A>T		.	.	.	.	.	.	.	.	.	.	A	25.1	4.603880	0.87157	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.46063	1.53;0.88;1.53;1.53;0.88	5.66	5.66	0.87406	PDZ/DHR/GLGF (4);	0.044283	0.85682	D	0.000000	T	0.60038	0.2238	L	0.58583	1.82	0.52501	D	0.999954	D;D;D;D	0.63880	0.988;0.972;0.991;0.993	D;P;P;D	0.68192	0.956;0.851;0.881;0.928	T	0.62821	-0.6773	10	0.72032	D	0.01	-23.0712	14.4646	0.67475	1.0:0.0:0.0:0.0	.	105;184;118;118	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	C	105;184;118;118;118;184	ENSP00000434559:S105C;ENSP00000431164:S184C;ENSP00000347742:S118C;ENSP00000327107:S118C;ENSP00000376564:S184C	ENSP00000327107:S118C	S	+	1	0	PDZD3	118563210	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	4.518000	0.60510	2.155000	0.67459	0.533000	0.62120	AGC		0.632	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791	
PRIM1	5557	broad.mit.edu	37	12	57140741	57140741	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr12:57140741T>C	ENST00000338193.6	-	3	373	c.337A>G	c.(337-339)Aca>Gca	p.T113A	PRIM1_ENST00000552408.1_5'UTR	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	113					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			kidney(1)|lung(6)|prostate(1)	8						TCATAGTCTGTCATGTCAATG	0.428																																						uc001smd.2																			0					0						c.(337-339)ACA>GCA		DNA primase polypeptide 1							222.0	202.0	209.0					12																	57140741		2106	4228	6334	SO:0001583	missense	5557				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding	g.chr12:57140741T>C	BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.337A>G	12.37:g.57140741T>C	ENSP00000350491:p.Thr113Ala					PRIM1_uc001sme.1_RNA|PRIM1_uc009zoz.1_Intron|PRIM1_uc001smf.2_Missense_Mutation_p.T113A	p.T113A	NM_000946	NP_000937	P49642	PRI1_HUMAN			3	401	-			113						Missense_Mutation	SNP	ENST00000338193.6	37	c.337A>G	CCDS44926.1	.	.	.	.	.	.	.	.	.	.	T	30	5.056073	0.93793	.	.	ENSG00000198056	ENST00000537418;ENST00000338193;ENST00000550770	T;T	0.47869	0.83;0.83	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.976;0.991	T	0.78422	-0.2210	10	0.46703	T	0.11	-16.7451	14.1129	0.65134	0.0:0.0:0.0:1.0	.	113;113	F8VSB2;P49642	.;PRI1_HUMAN	A	113;113;116	ENSP00000350491:T113A;ENSP00000450185:T116A	ENSP00000350491:T113A	T	-	1	0	PRIM1	55427008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.515000	0.81761	2.231000	0.72958	0.529000	0.55759	ACA		0.428	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406956.1	NM_000946	
IL26	55801	broad.mit.edu	37	12	68619487	68619487	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr12:68619487G>C	ENST00000229134.4	-	1	114	c.50C>G	c.(49-51)tCt>tGt	p.S17C	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	17					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		AATGGCAAGAGACAGAGTGAC	0.478																																						uc001stx.1																			0					0						c.(49-51)TCT>TGT		interleukin 26 precursor							273.0	236.0	249.0					12																	68619487		2203	4300	6503	SO:0001583	missense	55801				cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity	g.chr12:68619487G>C	AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"""Interleukins and interleukin receptors"""	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.50C>G	12.37:g.68619487G>C	ENSP00000229134:p.Ser17Cys						p.S17C	NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)	1	85	-			17						Missense_Mutation	SNP	ENST00000229134.4	37	c.50C>G	CCDS8981.1	.	.	.	.	.	.	.	.	.	.	G	5.893	0.348963	0.11182	.	.	ENSG00000111536	ENST00000229134	T	0.69685	-0.42	4.54	1.51	0.23008	Four-helical cytokine, core (1);	0.359975	0.22323	N	0.061565	T	0.49949	0.1587	L	0.34521	1.04	0.09310	N	1	B	0.17852	0.024	B	0.20767	0.031	T	0.31336	-0.9947	9	.	.	.	.	8.2147	0.31505	0.0912:0.4592:0.4496:0.0	.	17	Q9NPH9	IL26_HUMAN	C	17	ENSP00000229134:S17C	.	S	-	2	0	IL26	66905754	0.993000	0.37304	0.205000	0.23548	0.721000	0.41392	0.756000	0.26419	0.185000	0.20105	0.462000	0.41574	TCT		0.478	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	NM_018402	
MIPEP	4285	broad.mit.edu	37	13	24448985	24448985	+	Splice_Site	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr13:24448985C>T	ENST00000382172.3	-	5	701	c.603G>A	c.(601-603)aaG>aaA	p.K201K		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	201					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AAAGATGTACCTTTTCTTTGT	0.333																																						uc001uox.3																			0				central_nervous_system(1)	1						c.(601-603)AAG>AAA		mitochondrial intermediate peptidase precursor							126.0	132.0	130.0					13																	24448985		2203	4300	6503	SO:0001630	splice_region_variant	4285				protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	g.chr13:24448985C>T		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.603+1G>A	13.37:g.24448985C>T							p.K201K	NM_005932	NP_005923	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	5	703	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	201					Q5JV15|Q5T9Q9|Q96G65	Silent	SNP	ENST00000382172.3	37	c.603G>A	CCDS9303.1																																																																																				0.333	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1		Silent
ERCC5	2073	broad.mit.edu	37	13	103520596	103520596	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr13:103520596C>T	ENST00000355739.4	+	12	4090	c.2667C>T	c.(2665-2667)ctC>ctT	p.L889L	ERCC5_ENST00000375954.1_Silent_p.L122L|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.P1315S	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	889					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGGAACCTCTCCTAAAATTCT	0.373			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001vpw.2			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		skin basal cell|skin squamous cell|melanoma			0				ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(2665-2667)CTC>CTT	Direct_reversal_of_damage|NER	XPG-complementing protein							73.0	78.0	77.0					13																	103520596		2203	4300	6503	SO:0001819	synonymous_variant	2073	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103520596C>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2667C>T	13.37:g.103520596C>T						ERCC5_uc001vpu.1_Silent_p.L1343L|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Silent_p.L721L	p.L889L	NM_000123	NP_000114	P28715	ERCC5_HUMAN			12	3110	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		889					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Silent	SNP	ENST00000355739.4	37	c.2667C>T	CCDS32004.1																																																																																				0.373	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1		
ARHGEF7	8874	broad.mit.edu	37	13	111896312	111896315	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr13:111896312_111896315delAAGT	ENST00000375741.2	+	8	1166_1167	c.916_917delAAGT	c.(916-918)aag>g	p.K306fs	ARHGEF7_ENST00000218789.5_Splice_Site_p.K128fs|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375739.2_Splice_Site_p.K256fs|ARHGEF7_ENST00000426073.2_Splice_Site_p.K128fs|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000317133.5_Splice_Site_p.K285fs|ARHGEF7_ENST00000375736.4_Splice_Site_p.K128fs|ARHGEF7_ENST00000478679.1_Splice_Site_p.K50fs|ARHGEF7_ENST00000375737.5_Splice_Site_p.K203fs|ARHGEF7_ENST00000375723.1_Splice_Site_p.K128fs|ARHGEF7_ENST00000370623.3_Splice_Site_p.K213fs	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	306	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GACCAGTGAGAAGTAAGTTAGATG	0.324																																						uc001vrs.2																			0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.e8+1		PAK-interacting exchange factor beta isoform c																																				SO:0001630	splice_region_variant	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111896312_111896315delAAGT	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.917+1AAGT>-	13.37:g.111896316_111896319delAAGT						ARHGEF7_uc001vrr.2_Splice_Site_p.K285_splice|ARHGEF7_uc001vrt.2_Splice_Site_p.K256_splice|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vru.1_Splice_Site_p.K128_splice|ARHGEF7_uc001vrv.3_Splice_Site_p.K128_splice|ARHGEF7_uc001vrw.3_Splice_Site_p.K128_splice|ARHGEF7_uc001vrx.3_Splice_Site_p.K128_splice|ARHGEF7_uc010tjo.1_Splice_Site_p.K203_splice|ARHGEF7_uc010tjp.1_Splice_Site_p.K50_splice|ARHGEF7_uc010agn.1_Splice_Site_p.K50_splice	p.K306_splice	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		8	1167	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)							B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Splice_Site	DEL	ENST00000375741.2	37	c.917_splice	CCDS45068.1																																																																																				0.324	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511	Frame_Shift_Del
DLK1	8788	broad.mit.edu	37	14	101200827	101200827	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr14:101200827C>T	ENST00000341267.4	+	5	988	c.746C>T	c.(745-747)gCg>gTg	p.A249V	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	249					cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.A249V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AAGAAGCGCGCGCTGAGCCCC	0.682																																						uc001yhs.3																			1	Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(1)	ovary(2)|breast(1)|skin(1)	4						c.(745-747)GCG>GTG		delta-like 1 homolog precursor																																				SO:0001583	missense	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101200827C>T	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.746C>T	14.37:g.101200827C>T	ENSP00000340292:p.Ala249Val					DLK1_uc001yhu.3_Intron	p.A249V	NM_003836	NP_003827	P80370	DLK1_HUMAN			5	899	+		Melanoma(154;0.155)	249			Extracellular (Potential).		P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	c.746C>T	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	C	6.133	0.392819	0.11638	.	.	ENSG00000185559	ENST00000341267	T	0.66460	-0.21	4.16	-1.84	0.07809	.	0.891322	0.09748	N	0.761040	T	0.39784	0.1091	N	0.12182	0.205	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.17107	-1.0380	9	.	.	.	.	4.3444	0.11126	0.0:0.3449:0.3385:0.3166	.	249	P80370	DLK1_HUMAN	V	249	ENSP00000340292:A249V	.	A	+	2	0	DLK1	100270580	0.000000	0.05858	0.004000	0.12327	0.437000	0.31866	-1.865000	0.01649	-0.248000	0.09583	0.491000	0.48974	GCG		0.682	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1		
SIN3A	25942	broad.mit.edu	37	15	75693090	75693090	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr15:75693090C>T	ENST00000394947.3	-	11	2032	c.1718G>A	c.(1717-1719)cGg>cAg	p.R573Q	SIN3A_ENST00000360439.4_Missense_Mutation_p.R573Q|SIN3A_ENST00000394949.4_Missense_Mutation_p.R573Q	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GAGAGGAGTCCGTCCTGTACA	0.493																																						uc002bai.2																			0				skin(3)|ovary(1)|lung(1)	5						c.(1717-1719)CGG>CAG		transcriptional co-repressor Sin3A							85.0	73.0	77.0					15																	75693090		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75693090C>T	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1718G>A	15.37:g.75693090C>T	ENSP00000378402:p.Arg573Gln					SIN3A_uc002baj.2_Missense_Mutation_p.R573Q|SIN3A_uc010uml.1_Missense_Mutation_p.R573Q	p.R573Q	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN			11	1977	-			573			Interactions with SUDS3 and SAP130.|Interaction with NCOR1 (By similarity).			Missense_Mutation	SNP	ENST00000394947.3	37	c.1718G>A	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404920	0.96051	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.69435	-0.4;-0.4;-0.4	5.64	5.64	0.86602	Histone deacetylase interacting (2);	0.000000	0.85682	D	0.000000	D	0.86180	0.5871	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88643	0.3177	10	0.72032	D	0.01	-25.5019	18.7029	0.91627	0.0:1.0:0.0:0.0	.	573	Q96ST3	SIN3A_HUMAN	Q	573	ENSP00000378402:R573Q;ENSP00000378403:R573Q;ENSP00000353622:R573Q	ENSP00000353622:R573Q	R	-	2	0	SIN3A	73480143	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.817000	0.86213	2.656000	0.90262	0.460000	0.39030	CGG		0.493	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477	
WASH4P	374677	broad.mit.edu	37	16	66940	66940	+	Silent	SNP	G	G	A	rs200079147		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:66940G>A	ENST00000326592.9	-	5	1354	c.696C>T	c.(694-696)agC>agT	p.S232S	DDX11L10_ENST00000513886.1_RNA|Z84812.4_ENST00000568710.1_RNA			A8MWX3	WASH4_HUMAN	WAS protein family homolog 4 pseudogene	232					Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.S232S(1)									GCTCTCTCTTGCTGATGGACA	0.597																																						uc002cfg.1																			1	Substitution - coding silent(1)		kidney(1)								c.(694-696)AGC>AGT		WAS protein family homolog 1																																				SO:0001819	synonymous_variant	0							g.chr16:66940G>A			16p13.3	2014-08-28	2008-01-16	2008-01-16	ENSG00000234769	ENSG00000234769		"""WAS protein homologs"""	14126	other	unknown			"""family with sequence similarity 39, member C pseudogene"""	FAM39CP		9054936, 11701968, 18159949	Standard	NG_003159		Approved	FLJ31670		A8MWX3	OTTHUMG00000059914	ENST00000326592.9:c.696C>T	16.37:g.66940G>A							p.S232S	NM_182905	NP_878908					5	1355	-									Silent	SNP	ENST00000326592.9	37	c.696C>T																																																																																					0.597	WASH4P-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000133175.2	NG_003159	
PKD1	5310	broad.mit.edu	37	16	2156265	2156265	+	Silent	SNP	G	G	A	rs377373905		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:2156265G>A	ENST00000262304.4	-	19	7738	c.7530C>T	c.(7528-7530)taC>taT	p.Y2510Y	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Silent_p.Y2510Y	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2510	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCAGCAGGGCGTACACCAGCG	0.687													g|||	1	0.000199681	0.0	0.0	5008	,	,		17750	0.0		0.0	False		,,,				2504	0.001					uc002cos.1																			0				central_nervous_system(2)|skin(1)	3						c.(7528-7530)TAC>TAT		polycystin 1 isoform 1 precursor			,	0,4336		0,0,2168	18.0	23.0	21.0		7530,7530	-6.3	0.1	16		21	1,8549		0,1,4274	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	0,1,6442	AA,AG,GG		0.0117,0.0,0.0078	,	2510/4303,2510/4304	2156265	1,12885	2168	4275	6443	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2156265G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7530C>T	16.37:g.2156265G>A						PKD1_uc002cot.1_Silent_p.Y2510Y|PKD1_uc010bse.1_5'Flank	p.Y2510Y	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			19	7739	-			2510			Extracellular (Potential).|REJ.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.7530C>T	CCDS32369.1																																																																																				0.687	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1		
CREBBP	1387	broad.mit.edu	37	16	3779062	3779062	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:3779062C>T	ENST00000262367.5	-	31	6795	c.5986G>A	c.(5986-5988)Gcc>Acc	p.A1996T	CREBBP_ENST00000382070.3_Missense_Mutation_p.A1958T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1996					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTCACGGGGGCCATCTGGCTC	0.697			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(5986-5988)GCC>ACC		CREB binding protein isoform a							15.0	16.0	15.0					16																	3779062		2182	4288	6470	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3779062C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5986G>A	16.37:g.3779062C>T	ENSP00000262367:p.Ala1996Thr					CREBBP_uc002cvw.2_Missense_Mutation_p.A1958T	p.A1996T	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	6190	-		Ovarian(90;0.0266)	1996					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.5986G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	9.970	1.225329	0.22457	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.83163	-1.69;-1.61	5.11	3.04	0.35103	.	0.410734	0.22285	N	0.062071	T	0.67730	0.2924	N	0.24115	0.695	0.28763	N	0.900788	B;B	0.16166	0.016;0.016	B;B	0.16289	0.015;0.015	T	0.53927	-0.8369	10	0.16420	T	0.52	-6.7602	8.1573	0.31176	0.0:0.5137:0.3846:0.1017	.	2026;1996	Q4LE28;Q92793	.;CBP_HUMAN	T	1996;2026;1958;531	ENSP00000262367:A1996T;ENSP00000371502:A1958T	ENSP00000262367:A1996T	A	-	1	0	CREBBP	3719063	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	2.832000	0.48152	1.127000	0.42034	0.655000	0.94253	GCC		0.697	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
ANKS3	124401	broad.mit.edu	37	16	4755095	4755095	+	Splice_Site	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:4755095C>T	ENST00000304283.4	-	8	1163		c.e8+1		ANKS3_ENST00000585773.1_Splice_Site|ANKS3_ENST00000446014.2_Splice_Site|ANKS3_ENST00000450067.2_Splice_Site	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3											endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GGGCCACTCACCATAGCGAGG	0.597																																						uc002cxj.1																			0					0						c.e8+1		ankyrin repeat and sterile alpha motif domain							71.0	77.0	75.0					16																	4755095		2196	4299	6495	SO:0001630	splice_region_variant	124401							g.chr16:4755095C>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.868+1G>A	16.37:g.4755095C>T						ANKS3_uc002cxi.1_Splice_Site_p.E217_splice|ANKS3_uc002cxk.2_Splice_Site_p.E161_splice|ANKS3_uc002cxl.2_Splice_Site_p.E117_splice|ANKS3_uc010uxs.1_Splice_Site_p.E217_splice|ANKS3_uc002cxm.2_Splice_Site_p.E84_splice	p.E290_splice	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN			8	1163	-								B4DWU4|D3DUE2|Q8TF25	Splice_Site	SNP	ENST00000304283.4	37	c.868_splice	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696655	0.48202	.	.	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5153	0.87771	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKS3	4695096	1.000000	0.71417	0.999000	0.59377	0.244000	0.25665	4.667000	0.61561	2.816000	0.96949	0.563000	0.77884	.		0.597	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450	Intron
CNGB1	1258	broad.mit.edu	37	16	57918280	57918280	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:57918280C>T	ENST00000251102.8	-	33	3604	c.3544G>A	c.(3544-3546)Gac>Aac	p.D1182N	CNGB1_ENST00000564448.1_Missense_Mutation_p.D1176N	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1182					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.D1182N(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCGGGTGGGTCGGTGGCGGCC	0.721																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2																			1	Substitution - Missense(1)		urinary_tract(1)	breast(3)|pancreas(1)	4						c.(3544-3546)GAC>AAC		cyclic nucleotide gated channel beta 1 isoform							15.0	17.0	16.0					16																	57918280		1896	4051	5947	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57918280C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3544G>A	16.37:g.57918280C>T	ENSP00000251102:p.Asp1182Asn					CNGB1_uc010cdh.2_Missense_Mutation_p.D1176N	p.D1182N	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			33	3609	-			1182			Cytoplasmic (Potential).		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.3544G>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695656	0.48202	.	.	ENSG00000070729	ENST00000251102	D	0.96396	-4.0	3.9	3.9	0.45041	.	1.976920	0.02372	N	0.077941	D	0.90219	0.6942	N	0.08118	0	0.42835	D	0.994038	P;P	0.47604	0.706;0.898	B;B	0.33339	0.162;0.107	T	0.82080	-0.0634	10	0.40728	T	0.16	.	11.5551	0.50743	0.0:1.0:0.0:0.0	.	554;1182	Q14028-2;Q14028	.;CNGB1_HUMAN	N	1182	ENSP00000251102:D1182N	ENSP00000251102:D1182N	D	-	1	0	CNGB1	56475781	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	0.503000	0.22610	2.161000	0.67846	0.609000	0.83330	GAC		0.721	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297	
KRT39	390792	broad.mit.edu	37	17	39116542	39116542	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr17:39116542G>A	ENST00000355612.2	-	6	1243	c.1208C>T	c.(1207-1209)tCg>tTg	p.S403L	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	403	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTTGCCATCCGAGCTCTCCAG	0.468																																						uc002hvo.1																			0					0						c.(1207-1209)TCG>TTG		type I hair keratin KA35							107.0	96.0	100.0					17																	39116542		2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39116542G>A	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.1208C>T	17.37:g.39116542G>A	ENSP00000347823:p.Ser403Leu					KRT39_uc010wfm.1_Missense_Mutation_p.S136L	p.S403L	NM_213656	NP_998821	Q6A163	K1C39_HUMAN			6	1244	-		Breast(137;0.00043)|Ovarian(249;0.15)	403			Coil 2.|Rod.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.1208C>T	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019807	0.54576	.	.	ENSG00000196859	ENST00000355612	D	0.88896	-2.44	5.6	-5.78	0.02362	Filament (1);	1.289600	0.05720	N	0.597607	T	0.71584	0.3357	N	0.05441	-0.05	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.57106	-0.7868	10	0.52906	T	0.07	.	1.1034	0.01689	0.3161:0.2524:0.2886:0.143	.	403	Q6A163	K1C39_HUMAN	L	403	ENSP00000347823:S403L	ENSP00000347823:S403L	S	-	2	0	KRT39	36370068	0.000000	0.05858	0.003000	0.11579	0.611000	0.37282	-0.555000	0.05999	-0.952000	0.03649	-1.246000	0.01523	TCG		0.468	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656	
ONECUT2	9480	broad.mit.edu	37	18	55103358	55103358	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr18:55103358C>T	ENST00000491143.2	+	1	442	c.410C>T	c.(409-411)tCg>tTg	p.S137L	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	137					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TCCTGCGACTCGTCTCCGCCT	0.652																																						uc002lgo.2																			0				ovary(2)|central_nervous_system(1)	3						c.(409-411)TCG>TTG		one cut domain, family member 2							44.0	49.0	47.0					18																	55103358		2203	4300	6503	SO:0001583	missense	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55103358C>T	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.410C>T	18.37:g.55103358C>T	ENSP00000419185:p.Ser137Leu						p.S137L	NM_004852	NP_004843	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	1	442	+		Colorectal(73;0.234)	137						Missense_Mutation	SNP	ENST00000491143.2	37	c.410C>T	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449707	0.43531	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	2.34	2.34	0.29019	.	0.270191	0.24289	U	0.039833	T	0.25457	0.0619	N	0.12182	0.205	0.33439	D	0.582146	B	0.30211	0.273	B	0.17722	0.019	T	0.34700	-0.9818	9	0.34782	T	0.22	.	11.3876	0.49796	0.0:1.0:0.0:0.0	.	137	O95948	ONEC2_HUMAN	L	118;137	.	ENSP00000262095:S137L	S	+	2	0	ONECUT2	53254356	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.418000	0.73341	1.133000	0.42147	0.305000	0.20034	TCG		0.652	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3		
APC2	10297	broad.mit.edu	37	19	1466495	1466496	+	Frame_Shift_Ins	INS	-	-	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:1466495_1466496insT	ENST00000535453.1	+	14	4908_4909	c.3195_3196insT	c.(3196-3198)tcgfs	p.S1066fs	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Frame_Shift_Ins_p.S1066fs|APC2_ENST00000238483.4_Frame_Shift_Ins_p.S792fs			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGCCACTCTCGCTGTCCCG	0.683																																						uc002lsr.1																			0				breast(3)|pancreas(1)	4						c.(3193-3198)CTCTCGfs		adenomatosis polyposis coli 2																																				SO:0001589	frameshift_variant	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1466495_1466496insT		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.3196dupT	19.37:g.1466496_1466496dupT	ENSP00000442954:p.Ser1066fs					APC2_uc002lss.1_Frame_Shift_Ins_p.L647fs|APC2_uc002lst.1_Frame_Shift_Ins_p.L1065fs|APC2_uc002lsu.1_Frame_Shift_Ins_p.L1064fs|C19orf25_uc010xgn.1_Intron	p.L1065fs	NM_005883	NP_005874	O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	3403_3404	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	1065_1066			Interaction with CTNNB1.|1.|5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Frame_Shift_Ins	INS	ENST00000535453.1	37	c.3195_3196insT	CCDS12068.1																																																																																				0.683	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883	
CELF5	60680	broad.mit.edu	37	19	3293345	3293345	+	Silent	SNP	C	C	T	rs372894450		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:3293345C>T	ENST00000292672.2	+	12	1396	c.1359C>T	c.(1357-1359)agC>agT	p.S453S	CELF5_ENST00000541430.2_3'UTR	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	453	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						ACCCGGCCAGCGCCCAGGCAG	0.622																																						uc002lxm.2																			0				ovary(2)	2						c.(1357-1359)AGC>AGT		bruno-like 5, RNA binding protein		C	,	2,4404	4.2+/-10.8	0,2,2201	87.0	76.0	80.0		,1359	2.7	1.0	19		80	0,8600		0,0,4300	no	utr-3,coding-synonymous	CELF5	NM_001172673.1,NM_021938.3	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	,453/486	3293345	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3293345C>T	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"""RNA binding motif (RRM) containing"""	14058	protein-coding gene	gene with protein product		612680	"""Bruno (Drosophila) -like 5, RNA binding protein"", ""bruno-like 5, RNA binding protein (Drosophila)"""	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.1359C>T	19.37:g.3293345C>T						CELF5_uc002lxl.1_3'UTR|CELF5_uc010dtj.1_3'UTR|CELF5_uc010xhg.1_3'UTR|CELF5_uc002lxn.2_RNA	p.S453S	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN			12	1396	+			453			RRM 3.		D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Silent	SNP	ENST00000292672.2	37	c.1359C>T	CCDS12106.1																																																																																				0.622	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938	
TNFSF14	8740	broad.mit.edu	37	19	6664993	6664993	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:6664993G>A	ENST00000599359.1	-	5	1048	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	TNFSF14_ENST00000245912.3_Missense_Mutation_p.R187C|TNFSF14_ENST00000326176.9_Missense_Mutation_p.R187C			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	223					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)	p.R223C(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CGAACCAGGCGTTCATCCAGC	0.612																																						uc002mfk.1																			1	Substitution - Missense(1)		large_intestine(1)	skin(1)	1						c.(667-669)CGC>TGC		tumor necrosis factor ligand superfamily, member							185.0	152.0	163.0					19																	6664993		2203	4300	6503	SO:0001583	missense	8740				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6664993G>A	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.667C>T	19.37:g.6664993G>A	ENSP00000469049:p.Arg223Cys					TNFSF14_uc002mfj.1_Missense_Mutation_p.R187C	p.R223C	NM_003807	NP_003798	O43557	TNF14_HUMAN			5	1049	-			223			Extracellular (Potential).		A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.667C>T	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763719	0.31228	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T	0.31510	1.49	4.46	-0.824	0.10812	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	1.337180	0.05076	N	0.482571	T	0.40743	0.1129	M	0.64997	1.995	0.09310	N	0.999991	D;D	0.71674	0.998;0.998	P;P	0.54965	0.765;0.653	T	0.29701	-1.0003	10	0.66056	D	0.02	-15.216	3.0044	0.06024	0.089:0.2223:0.392:0.2967	.	223;187	O43557;O43557-2	TNF14_HUMAN;.	C	223;187	ENSP00000326940:R187C	ENSP00000245912:R223C	R	-	1	0	TNFSF14	6615993	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	0.442000	0.21628	0.021000	0.15133	0.561000	0.74099	CGC		0.612	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1		
TNFSF14	8740	broad.mit.edu	37	19	6665273	6665273	+	Silent	SNP	G	G	A	rs147375196		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:6665273G>A	ENST00000599359.1	-	5	768	c.387C>T	c.(385-387)caC>caT	p.H129H	TNFSF14_ENST00000245912.3_Silent_p.H93H|TNFSF14_ENST00000326176.9_Silent_p.H93H			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	129					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GGGCCCCATCGTGGTAGCTGA	0.647																																						uc002mfk.1																			0				skin(1)	1						c.(385-387)CAC>CAT		tumor necrosis factor ligand superfamily, member		G	,	0,4396		0,0,2198	26.0	21.0	23.0		387,279	-9.7	0.0	19	dbSNP_134	23	1,8575		0,1,4287	no	coding-synonymous,coding-synonymous	TNFSF14	NM_003807.3,NM_172014.2	,	0,1,6485	AA,AG,GG		0.0117,0.0,0.0077	,	129/241,93/205	6665273	1,12971	2198	4288	6486	SO:0001819	synonymous_variant	8740				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6665273G>A	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.387C>T	19.37:g.6665273G>A						TNFSF14_uc002mfj.1_Silent_p.H93H	p.H129H	NM_003807	NP_003798	O43557	TNF14_HUMAN			5	769	-			129			Extracellular (Potential).		A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Silent	SNP	ENST00000599359.1	37	c.387C>T	CCDS12171.1																																																																																				0.647	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1		
LRRC8E	80131	broad.mit.edu	37	19	7964176	7964176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:7964176C>T	ENST00000306708.6	+	3	870	c.769C>T	c.(769-771)Cga>Tga	p.R257*	AC010336.1_ENST00000539278.1_3'UTR|RN7SL115P_ENST00000392196.5_RNA	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	257					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CATGTACATCCGACAGACGGT	0.532																																						uc002mir.2																			0				lung(1)|pancreas(1)	2						c.(769-771)CGA>TGA		leucine rich repeat containing 8 family, member							146.0	117.0	127.0					19																	7964176		2203	4300	6503	SO:0001587	stop_gained	80131					integral to membrane		g.chr19:7964176C>T		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.769C>T	19.37:g.7964176C>T	ENSP00000306524:p.Arg257*						p.R257*	NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN			3	870	+			257					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Nonsense_Mutation	SNP	ENST00000306708.6	37	c.769C>T	CCDS12189.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415166	0.83449	.	.	ENSG00000171017	ENST00000306708	.	.	.	5.18	4.13	0.48395	.	0.062759	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8368	0.57777	0.1643:0.8357:0.0:0.0	.	.	.	.	X	257	.	ENSP00000306524:R257X	R	+	1	2	LRRC8E	7870176	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	3.870000	0.56070	1.393000	0.46605	0.650000	0.86243	CGA		0.532	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061	
LDLR	3949	broad.mit.edu	37	19	11221368	11221368	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:11221368C>T	ENST00000558518.1	+	7	1168	c.981C>T	c.(979-981)caC>caT	p.H327H	LDLR_ENST00000545707.1_Silent_p.H200H|LDLR_ENST00000455727.2_Silent_p.H159H|LDLR_ENST00000558013.1_Silent_p.H327H|LDLR_ENST00000535915.1_Silent_p.H286H|LDLR_ENST00000557933.1_Silent_p.H327H	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	327	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.		H -> Y (in FH).		cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	GCTGTTCCCACGTCTGCAATG	0.627																																					GBM(18;201 575 7820 21545)	uc002mqk.3																			1	Unknown(1)		lung(1)	ovary(2)|skin(2)	4						c.(979-981)CAC>CAT		low density lipoprotein receptor precursor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						114.0	85.0	95.0					19																	11221368		2203	4300	6503	SO:0001819	synonymous_variant	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11221368C>T	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.981C>T	19.37:g.11221368C>T						LDLR_uc010xlk.1_Silent_p.H327H|LDLR_uc010xll.1_Silent_p.H286H|LDLR_uc010xlm.1_Silent_p.H180H|LDLR_uc010xln.1_Silent_p.H200H|LDLR_uc010xlo.1_Silent_p.H159H	p.H327H	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	7	1149	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	327		H -> Y (in FH).	Extracellular (Potential).|EGF-like 1.		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Silent	SNP	ENST00000558518.1	37	c.981C>T	CCDS12254.1																																																																																				0.627	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2		
FFAR2	2867	broad.mit.edu	37	19	35941517	35941517	+	Missense_Mutation	SNP	C	C	T	rs574975926		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:35941517C>T	ENST00000599180.2	+	2	981	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	FFAR2_ENST00000246549.2_Missense_Mutation_p.R301C|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	301					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGTTGGGACGCAGAGGCAA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		19039	0.0		0.0	False		,,,				2504	0.001				GBM(40;139 809 9833 23358 48736)	uc002nzg.2																			0				central_nervous_system(1)	1						c.(901-903)CGC>TGC		free fatty acid receptor 2							76.0	76.0	76.0					19																	35941517		2203	4300	6503	SO:0001583	missense	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35941517C>T	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.901C>T	19.37:g.35941517C>T	ENSP00000473159:p.Arg301Cys					FFAR2_uc010eea.2_Missense_Mutation_p.R301C	p.R301C	NM_005306	NP_005297	O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	981	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		301			Cytoplasmic (Potential).		B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Missense_Mutation	SNP	ENST00000599180.2	37	c.901C>T	CCDS12461.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037193	0.35893	.	.	ENSG00000126262	ENST00000246549	T	0.69040	-0.37	4.85	-0.293	0.12835	.	0.444083	0.19863	N	0.104381	T	0.52041	0.1710	L	0.51422	1.61	0.09310	N	0.999996	B	0.10296	0.003	B	0.04013	0.001	T	0.41805	-0.9488	10	0.48119	T	0.1	-3.8436	3.8897	0.09113	0.1696:0.4716:0.0:0.3588	.	301	O15552	FFAR2_HUMAN	C	301	ENSP00000246549:R301C	ENSP00000246549:R301C	R	+	1	0	FFAR2	40633357	0.000000	0.05858	0.002000	0.10522	0.282000	0.26991	0.054000	0.14205	-0.091000	0.12440	0.563000	0.77884	CGC		0.567	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306	
PSG8	440533	broad.mit.edu	37	19	43359720	43359720	+	Missense_Mutation	SNP	C	C	G	rs200711372	byFrequency	TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:43359720C>G	ENST00000401467.2	-	1	123	c.52G>C	c.(52-54)Gtc>Ctc	p.V18L	PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	18						extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTGAGCAGGACCCCCTTCCAT	0.567													.|||	16	0.00319489	0.003	0.0029	5008	,	,		17866	0.002		0.003	False		,,,				2504	0.0051					uc002oul.3																			0					0						c.(52-54)GTC>CTC		pregnancy specific beta-1-glycoprotein 8 isoform																																				SO:0001583	missense	440533					extracellular region		g.chr19:43359720C>G	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000401467.2:c.52G>C	19.37:g.43359720C>G	ENSP00000386090:p.Val18Leu					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG8_uc002oum.3_Missense_Mutation_p.V18L|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.V18L|PSG10_uc010eip.2_RNA|PSG1_uc002our.1_Intron|PSG1_uc010eio.1_Intron|PSG1_uc002oux.1_Intron|PSG1_uc002ouy.1_Intron	p.V18L	NM_001130168	NP_001123640	Q9UQ74	PSG8_HUMAN			1	151	-		Prostate(69;0.00899)	18					A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000401467.2	37	c.52G>C																																																																																					0.567	PSG8-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000464525.1		
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cggaag>cgg	p.K217del	ERCC1_ENST00000300853.3_3'UTR|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000588738.1_5'Flank|CD3EAP_ENST00000589804.1_In_Frame_Del_p.K219del|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581																																						uc002pbq.1																			0				large_intestine(2)|ovary(2)	4						c.(631-636)CGGAAG>CGG		CD3E antigen, epsilon polypeptide associated			,,	0,144,4118		0,0,0,13,118,2000					,,	-5.6	0.0			66	5,183,8058		0,0,5,3,177,3938	no	codingComplex,utr-3,utr-3	ERCC1,CD3EAP	NM_012099.1,NM_001983.3,NM_001166049.1	,,	0,0,5,16,295,5938	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2799,3.3787,2.6543	,,	,,		5,327,12176				SO:0001651	inframe_deletion	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911859_45911861delGAA	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.633_635delGAA	19.37:g.45911868_45911870delGAA	ENSP00000310966:p.Lys217del					PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_In_Frame_Del_p.K219del	p.K217del	NM_012099	NP_036231	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1121_1123	+		all_neural(266;0.224)|Ovarian(192;0.231)	217			Poly-Lys.		Q32N11|Q7Z5U2|Q9UPF6	In_Frame_Del	DEL	ENST00000309424.3	37	c.633_635delGAA	CCDS12661.1																																																																																				0.581	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099	
KIR3DL1	3811	broad.mit.edu	37	19	55351111	55351111	+	Intron	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:55351111C>T	ENST00000402254.2	+	6	1033				KIR2DS4_ENST00000339924.8_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ACGCTCCCTACGAGTGGTCAA	0.562																																						uc002qhm.1																			0					0						c.(619-621)TAC>TAT		killer cell immunoglobulin-like receptor, two							247.0	217.0	227.0					19																	55351111		2171	4160	6331	SO:0001627	intron_variant	3809					integral to plasma membrane	receptor activity	g.chr19:55351111C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000402254.2:c.1000+14578C>T	19.37:g.55351111C>T						KIR2DS4_uc010yfj.1_Missense_Mutation_p.T193M|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Missense_Mutation_p.T200M|KIR2DS4_uc002qhn.1_Intron	p.Y207Y	NM_012314	NP_036446	P43632	KI2S4_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	5	667	+			207			Extracellular (Potential).		O43473|Q14946|Q16541	Silent	SNP	ENST00000402254.2	37	c.621C>T																																																																																					0.562	KIR3DL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_013289	
NLRP2	55655	broad.mit.edu	37	19	55495082	55495082	+	Silent	SNP	C	C	T	rs374613201		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:55495082C>T	ENST00000543010.1	+	6	2159	c.2016C>T	c.(2014-2016)gaC>gaT	p.D672D	NLRP2_ENST00000339757.7_Silent_p.D650D|NLRP2_ENST00000427260.2_Silent_p.D649D|NLRP2_ENST00000391721.4_Silent_p.D648D|NLRP2_ENST00000537859.1_Silent_p.D650D|NLRP2_ENST00000448584.2_Silent_p.D672D|NLRP2_ENST00000263437.6_Silent_p.D669D|NLRP2_ENST00000538819.1_Silent_p.D648D	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	672					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTGAATCAGACGCCGAGGTTG	0.507																																						uc002qij.2																			0				ovary(1)|skin(1)	2						c.(2014-2016)GAC>GAT		NLR family, pyrin domain containing 2		C	,,,	1,4405	2.1+/-5.4	0,1,2202	53.0	51.0	52.0		2016,1950,1947,2016	-3.4	0.0	19		52	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	672/1063,650/1041,649/1040,672/1063	55495082	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55495082C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2016C>T	19.37:g.55495082C>T						NLRP2_uc010yfp.1_Silent_p.D649D|NLRP2_uc010esn.2_Silent_p.D648D|NLRP2_uc010eso.2_Silent_p.D669D|NLRP2_uc010esp.2_Silent_p.D650D	p.D672D	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	2102	+			672					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.2016C>T	CCDS12913.1																																																																																				0.507	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
PTPRH	5794	broad.mit.edu	37	19	55693402	55693402	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:55693402C>T	ENST00000376350.3	-	19	3202	c.3180G>A	c.(3178-3180)ccG>ccA	p.P1060P	SYT5_ENST00000537500.1_5'Flank|SYT5_ENST00000354308.3_5'Flank|PTPRH_ENST00000263434.5_Silent_p.P882P|SYT5_ENST00000590851.1_5'Flank	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1060	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GCACCATCAACGGCCGACTCT	0.637																																						uc002qjq.2																			0				ovary(2)|large_intestine(1)|skin(1)	4						c.(3178-3180)CCG>CCA		protein tyrosine phosphatase, receptor type, H							122.0	118.0	119.0					19																	55693402		2203	4300	6503	SO:0001819	synonymous_variant	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55693402C>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.3180G>A	19.37:g.55693402C>T						PTPRH_uc010esv.2_Silent_p.P882P|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	p.P1060P	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	19	3253	-		Renal(1328;0.245)	1060			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	c.3180G>A	CCDS33110.1																																																																																				0.637	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1		
DYSF	8291	broad.mit.edu	37	2	71801344	71801344	+	Missense_Mutation	SNP	C	C	T	rs200637035	byFrequency	TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr2:71801344C>T	ENST00000258104.3	+	30	3468	c.3191C>T	c.(3190-3192)gCg>gTg	p.A1064V	DYSF_ENST00000409582.3_Missense_Mutation_p.A1081V|DYSF_ENST00000409651.1_Missense_Mutation_p.A1096V|DYSF_ENST00000413539.2_Missense_Mutation_p.A1095V|DYSF_ENST00000429174.2_Missense_Mutation_p.A1064V|DYSF_ENST00000410041.1_Missense_Mutation_p.A1082V|DYSF_ENST00000409744.1_Missense_Mutation_p.A1051V|DYSF_ENST00000409762.1_Missense_Mutation_p.A1081V|DYSF_ENST00000409366.1_Missense_Mutation_p.A1065V|DYSF_ENST00000394120.2_Missense_Mutation_p.A1065V|DYSF_ENST00000410020.3_Missense_Mutation_p.A1082V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1064	Arg-rich.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGGCGGAGGCGGAGGGCGAG	0.662													C|||	2	0.000399361	0.0008	0.0	5008	,	,		15258	0.001		0.0	False		,,,				2504	0.0					uc002sie.2																			0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(3190-3192)GCG>GTG		dysferlin isoform 8							45.0	55.0	52.0					2																	71801344		2201	4292	6493	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71801344C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3191C>T	2.37:g.71801344C>T	ENSP00000258104:p.Ala1064Val					DYSF_uc010feg.2_Missense_Mutation_p.A1095V|DYSF_uc010feh.2_Missense_Mutation_p.A1050V|DYSF_uc002sig.3_Missense_Mutation_p.A1050V|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.A1064V|DYSF_uc010fef.2_Missense_Mutation_p.A1081V|DYSF_uc010fei.2_Missense_Mutation_p.A1081V|DYSF_uc010fek.2_Missense_Mutation_p.A1082V|DYSF_uc010fej.2_Missense_Mutation_p.A1051V|DYSF_uc010fel.2_Missense_Mutation_p.A1051V|DYSF_uc010feo.2_Missense_Mutation_p.A1096V|DYSF_uc010fem.2_Missense_Mutation_p.A1065V|DYSF_uc010fen.2_Missense_Mutation_p.A1082V|DYSF_uc002sif.2_Missense_Mutation_p.A1065V|DYSF_uc010yqy.1_5'Flank	p.A1064V	NM_003494	NP_003485	O75923	DYSF_HUMAN			30	3567	+			1064			Cytoplasmic (Potential).|Arg-rich.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.3191C>T	CCDS1918.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.75	2.032211	0.35893	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.6	4.71	0.59529	.	0.510591	0.21739	N	0.069848	T	0.69771	0.3148	N	0.14661	0.345	0.21967	N	0.999449	P;P;P;P;P;P;P;B;P;P;P;P;P;P	0.50528	0.936;0.936;0.936;0.936;0.56;0.56;0.56;0.427;0.936;0.727;0.588;0.886;0.936;0.894	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.42462	0.388;0.388;0.388;0.388;0.216;0.145;0.216;0.145;0.388;0.145;0.294;0.388;0.388;0.217	T	0.63659	-0.6587	10	0.34782	T	0.22	-25.27	11.5137	0.50509	0.0:0.9139:0.0:0.0861	.	1096;1082;1065;1051;1082;1051;1081;1050;1095;1081;1064;1050;1065;1064	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	V	1095;1081;1081;1064;1064;1096;1065;1051;1065;1082;1082	ENSP00000407046:A1095V;ENSP00000387137:A1081V;ENSP00000386547:A1081V;ENSP00000398305:A1064V;ENSP00000258104:A1064V;ENSP00000386683:A1096V;ENSP00000377678:A1065V;ENSP00000386285:A1051V;ENSP00000386512:A1065V;ENSP00000386881:A1082V;ENSP00000386617:A1082V	ENSP00000258104:A1064V	A	+	2	0	DYSF	71654852	0.194000	0.23325	0.941000	0.38009	0.231000	0.25187	1.367000	0.34204	2.627000	0.88993	0.650000	0.86243	GCG		0.662	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
SLC9A4	389015	broad.mit.edu	37	2	103095611	103095611	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr2:103095611C>T	ENST00000295269.4	+	2	1027	c.570C>T	c.(568-570)gaC>gaT	p.D190D		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	190					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.D190D(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCCTGGGCGACGTCAACCTGC	0.632																																						uc002tbz.3																			1	Substitution - coding silent(1)		endometrium(1)	skin(2)|central_nervous_system(1)	3						c.(568-570)GAC>GAT		solute carrier family 9 (sodium/hydrogen							44.0	40.0	41.0					2																	103095611		2203	4300	6503	SO:0001819	synonymous_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103095611C>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.570C>T	2.37:g.103095611C>T							p.D190D	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			2	1027	+			190			Extracellular (Potential).		Q69YK0	Silent	SNP	ENST00000295269.4	37	c.570C>T	CCDS33264.1																																																																																				0.632	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	
DPP10	57628	broad.mit.edu	37	2	116447456	116447456	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr2:116447456G>A	ENST00000410059.1	+	7	1015	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.V183I|DPP10_ENST00000310323.8_Missense_Mutation_p.V172I|DPP10_ENST00000409163.1_Missense_Mutation_p.V129I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	179						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAGGACTCCGTCTTGCAGTA	0.438																																						uc002tla.1																			0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(535-537)GTC>ATC		dipeptidyl peptidase 10 isoform long							84.0	91.0	89.0					2																	116447456		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116447456G>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.535G>A	2.37:g.116447456G>A	ENSP00000386565:p.Val179Ile					DPP10_uc002tlb.1_Missense_Mutation_p.V129I|DPP10_uc002tlc.1_Missense_Mutation_p.V175I|DPP10_uc002tle.2_Missense_Mutation_p.V183I|DPP10_uc002tlf.1_Missense_Mutation_p.V172I	p.V179I	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			7	992	+			179			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.535G>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164856	0.38217	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.44	-2.02	0.07388	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.225321	0.36778	N	0.002414	T	0.22859	0.0552	L	0.55481	1.735	0.24648	N	0.993537	B;B;B;B	0.22800	0.027;0.075;0.034;0.034	B;B;B;B	0.20955	0.013;0.018;0.032;0.022	T	0.33650	-0.9860	10	0.15499	T	0.54	-12.1613	11.1686	0.48558	0.491:0.0:0.509:0.0	.	172;183;175;179	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	I	179;129;175;183;172;129	ENSP00000386565:V179I;ENSP00000387038:V129I;ENSP00000376854:V175I;ENSP00000376855:V183I;ENSP00000309066:V172I	ENSP00000309066:V172I	V	+	1	0	DPP10	116163926	0.323000	0.24643	0.908000	0.35775	0.965000	0.64279	0.668000	0.25127	-0.308000	0.08792	-0.237000	0.12165	GTC		0.438	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
ABCB11	8647	broad.mit.edu	37	2	169850255	169850255	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr2:169850255G>C	ENST00000263817.6	-	8	873	c.749C>G	c.(748-750)cCt>cGt	p.P250R		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	250	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CCCAATGAGAGGGCTGACAGA	0.453																																						uc002ueo.1																			0				ovary(2)|large_intestine(2)|breast(1)	5						c.(748-750)CCT>CGT		ATP-binding cassette, sub-family B (MDR/TAP),	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						48.0	46.0	47.0					2																	169850255		1883	4116	5999	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169850255G>C	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.749C>G	2.37:g.169850255G>C	ENSP00000263817:p.Pro250Arg						p.P250R	NM_003742	NP_003733	O95342	ABCBB_HUMAN			8	875	-			250			Helical; (Potential).|ABC transmembrane type-1 1.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.749C>G	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804444	0.90623	.	.	ENSG00000073734	ENST00000263817	D	0.82167	-1.58	5.56	5.56	0.83823	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94029	0.8087	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95235	0.8346	10	0.87932	D	0	0.378	19.5082	0.95130	0.0:0.0:1.0:0.0	.	250	O95342	ABCBB_HUMAN	R	250	ENSP00000263817:P250R	ENSP00000263817:P250R	P	-	2	0	ABCB11	169558501	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.830000	0.99415	2.604000	0.88044	0.650000	0.86243	CCT		0.453	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742	
ZNF337	26152	broad.mit.edu	37	20	25666266	25666266	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr20:25666266G>A	ENST00000376436.1	-	3	726	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	ZNF337_ENST00000252979.5_Missense_Mutation_p.R63W|ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000538750.1_Intron			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	63	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGCTCTAGCCGCCTGATGAGT	0.577																																						uc002wva.2																			0					0						c.(187-189)CGG>TGG		zinc finger protein 337							132.0	134.0	133.0					20																	25666266		2203	4300	6503	SO:0001583	missense	26152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:25666266G>A		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.187C>T	20.37:g.25666266G>A	ENSP00000365619:p.Arg63Trp					ZNF337_uc010ztg.1_Intron|ZNF337_uc002wvb.2_Missense_Mutation_p.R63W|ZNF337_uc002wvc.2_Missense_Mutation_p.R63W	p.R63W	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN			3	709	-			63			KRAB.		B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.187C>T	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	14.52	2.559239	0.45590	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412	T;T	0.00816	5.66;5.66	1.85	1.85	0.25348	Krueppel-associated box (3);	.	.	.	.	T	0.00967	0.0032	L	0.33137	0.985	0.09310	N	0.999999	D	0.69078	0.997	B	0.43701	0.428	T	0.55885	-0.8070	9	0.38643	T	0.18	.	5.3022	0.15783	0.0:0.0:0.6626:0.3374	.	63	Q9Y3M9	ZN337_HUMAN	W	63	ENSP00000365619:R63W;ENSP00000252979:R63W	ENSP00000252979:R63W	R	-	1	2	ZNF337	25614266	0.002000	0.14202	0.004000	0.12327	0.671000	0.39405	0.094000	0.15107	0.850000	0.35239	0.461000	0.40582	CGG		0.577	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1		
STAU1	6780	broad.mit.edu	37	20	47741010	47741010	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr20:47741010C>T	ENST00000371856.2	-	7	1134	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	STAU1_ENST00000347458.5_Missense_Mutation_p.A161T|STAU1_ENST00000371828.3_Missense_Mutation_p.A167T|STAU1_ENST00000340954.7_Missense_Mutation_p.A161T|STAU1_ENST00000360426.4_Missense_Mutation_p.A161T|STAU1_ENST00000371802.1_Missense_Mutation_p.A167T|STAU1_ENST00000371792.1_Missense_Mutation_p.A161T	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	242	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.A242T(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			ACAGCTATGGCGGCATTTTTC	0.468																																						uc002xud.2																			1	Substitution - Missense(1)	p.A242T(1)	ovary(1)	ovary(4)|kidney(1)	5						c.(724-726)GCC>ACC		staufen isoform b							163.0	181.0	175.0					20																	47741010		2203	4300	6503	SO:0001583	missense	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47741010C>T		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.724G>A	20.37:g.47741010C>T	ENSP00000360922:p.Ala242Thr					STAU1_uc002xua.2_Missense_Mutation_p.A161T|STAU1_uc002xub.2_Missense_Mutation_p.A167T|STAU1_uc002xuc.2_Missense_Mutation_p.A161T|STAU1_uc002xue.2_Missense_Mutation_p.A161T|STAU1_uc002xuf.2_Missense_Mutation_p.A167T|STAU1_uc002xug.2_Missense_Mutation_p.A242T	p.A242T	NM_017453	NP_059347	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		7	1135	-			242			DRBM 2.		A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	c.724G>A	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	C	34	5.337601	0.95758	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404	D;D;D;D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46;-3.46;-3.46;-3.46	5.33	5.33	0.75918	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98795	0.9594	H	0.99650	4.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99461	1.0943	10	0.87932	D	0	-10.4462	19.0449	0.93015	0.0:1.0:0.0:0.0	.	242;167	O95793;Q5JW29	STAU1_HUMAN;.	T	167;161;242;161;161;161;167;161;167	ENSP00000360893:A167T;ENSP00000345425:A161T;ENSP00000360922:A242T;ENSP00000353604:A161T;ENSP00000323443:A161T;ENSP00000360867:A167T;ENSP00000360857:A161T;ENSP00000416779:A167T	ENSP00000345425:A161T	A	-	1	0	STAU1	47174417	1.000000	0.71417	0.376000	0.26042	0.702000	0.40608	7.814000	0.86154	2.492000	0.84095	0.650000	0.86243	GCC		0.468	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453	
FBLN2	2199	broad.mit.edu	37	3	13670777	13670777	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr3:13670777G>A	ENST00000295760.7	+	12	2755	c.2686G>A	c.(2686-2688)Ggc>Agc	p.G896S	FBLN2_ENST00000535798.1_Missense_Mutation_p.G922S|FBLN2_ENST00000492059.1_Missense_Mutation_p.G943S|FBLN2_ENST00000404922.3_Missense_Mutation_p.G943S	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	896	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGATGCCTTTGGCCGGGGCTG	0.662																																						uc011avb.1																			0				ovary(1)	1						c.(2686-2688)GGC>AGC		fibulin 2 isoform b precursor							24.0	29.0	27.0					3																	13670777		2069	4200	6269	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13670777G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2686G>A	3.37:g.13670777G>A	ENSP00000295760:p.Gly896Ser					FBLN2_uc011auz.1_Missense_Mutation_p.G922S|FBLN2_uc011ava.1_Missense_Mutation_p.G943S|FBLN2_uc011avc.1_Missense_Mutation_p.G943S	p.G896S	NM_001998	NP_001989	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		12	2811	+			896			EGF-like 6; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.2686G>A	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	3.181	-0.167876	0.06461	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.88664	-2.29;-2.27;-2.41;-2.27	4.91	2.81	0.32909	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.175032	0.51477	D	0.000090	D	0.82568	0.5065	M	0.62209	1.925	0.34557	D	0.711924	B;P;P	0.46859	0.277;0.708;0.885	B;B;B	0.41374	0.164;0.227;0.355	T	0.80111	-0.1519	10	0.14252	T	0.57	.	4.1821	0.10380	0.534:0.0:0.466:0.0	.	896;943;922	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	S	922;943;896;943	ENSP00000445705:G922S;ENSP00000384169:G943S;ENSP00000295760:G896S;ENSP00000420042:G943S	ENSP00000295760:G896S	G	+	1	0	FBLN2	13645778	0.989000	0.36119	0.852000	0.33557	0.489000	0.33432	2.549000	0.45803	1.048000	0.40298	0.655000	0.94253	GGC		0.662	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019	
TRAT1	50852	broad.mit.edu	37	3	108549621	108549621	+	Nonsense_Mutation	SNP	C	C	T	rs148894492	byFrequency	TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr3:108549621C>T	ENST00000295756.6	+	2	342	c.112C>T	c.(112-114)Cga>Tga	p.R38*	TRAT1_ENST00000493604.1_3'UTR|TRAT1_ENST00000426646.1_Intron	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	38					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GGAAAAGCAACGACAAGGTAA	0.418													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16849	0.0		0.001	False		,,,				2504	0.0					uc003dxi.1																			0				skin(1)	1						c.(112-114)CGA>TGA		T-cell receptor interacting molecule		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	142.0	136.0	138.0		112	1.1	0.4	3	dbSNP_134	138	0,8600		0,0,4300	yes	stop-gained	TRAT1	NM_016388.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		38/187	108549621	1,13005	2203	4300	6503	SO:0001587	stop_gained	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108549621C>T	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.112C>T	3.37:g.108549621C>T	ENSP00000295756:p.Arg38*					TRAT1_uc010hpx.1_Intron	p.R38*	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			2	256	+			38			Cytoplasmic (Potential).		Q9NZX5	Nonsense_Mutation	SNP	ENST00000295756.6	37	c.112C>T	CCDS33813.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	36	5.819018	0.96982	2.27E-4	0.0	ENSG00000163519	ENST00000295756	.	.	.	5.16	1.11	0.20524	.	0.444625	0.18520	N	0.138817	.	.	.	.	.	.	0.48571	D	0.99967	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9002	11.9934	0.53188	0.6059:0.3941:0.0:0.0	.	.	.	.	X	38	.	ENSP00000295756:R38X	R	+	1	2	TRAT1	110032311	0.346000	0.24844	0.413000	0.26509	0.880000	0.50808	0.102000	0.15272	0.015000	0.14971	0.591000	0.81541	CGA		0.418	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388	
IFT80	57560	broad.mit.edu	37	3	160083930	160083930	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr3:160083930C>T	ENST00000326448.7	-	6	882	c.450G>A	c.(448-450)gtG>gtA	p.V150V	RP11-432B6.3_ENST00000483754.1_Silent_p.V321V|IFT80_ENST00000483465.1_Silent_p.V13V|IFT80_ENST00000496589.1_Silent_p.V13V	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	150					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTACTGAATACACTGGTGTTC	0.353																																						uc011boy.1																			0				ovary(1)	1						c.(448-450)GTG>GTA		WD repeat domain 56							107.0	106.0	107.0					3																	160083930		2203	4300	6503	SO:0001819	synonymous_variant	57560					cilium axoneme|microtubule basal body		g.chr3:160083930C>T	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.450G>A	3.37:g.160083930C>T						IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Silent_p.V13V|IFT80_uc003fdd.1_Intron|IFT80_uc003fde.1_Silent_p.V13V	p.V150V	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		6	883	-			150			WD 3.		B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Silent	SNP	ENST00000326448.7	37	c.450G>A	CCDS3188.1																																																																																				0.353	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800	
RBM47	54502	broad.mit.edu	37	4	40440481	40440481	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:40440481C>T	ENST00000381793.2	-	3	826	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	RBM47_ENST00000295971.7_Missense_Mutation_p.V144M|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Missense_Mutation_p.V144M|RBM47_ENST00000381795.6_Missense_Mutation_p.V144M|RBM47_ENST00000514014.1_Missense_Mutation_p.V106M			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	144	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CTGCAGCACACGCCGAGCAGG	0.637																																						uc003gvc.2																			0				breast(3)	3						c.(430-432)GTG>ATG		RNA binding motif protein 47 isoform a							43.0	38.0	40.0					4																	40440481		2203	4299	6502	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440481C>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.430G>A	4.37:g.40440481C>T	ENSP00000371212:p.Val144Met					RBM47_uc003gvd.2_Missense_Mutation_p.V144M|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.V106M|RBM47_uc003gvg.1_Missense_Mutation_p.V144M	p.V144M	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			4	1140	-			144			RRM 1.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.430G>A	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577455	0.65878	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414	T;T;T;T;T;T;T;T	0.61859	2.72;0.07;2.72;0.07;0.07;2.72;0.07;0.07	5.57	5.57	0.84162	RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	D	0.85128	0.5626	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.89849	0.4008	10	0.87932	D	0	-22.293	19.5568	0.95354	0.0:1.0:0.0:0.0	.	144;144	A0AV96-2;A0AV96	.;RBM47_HUMAN	M	144;144;144;144;106;144;144;144	ENSP00000320108:V144M;ENSP00000371212:V144M;ENSP00000371214:V144M;ENSP00000295971:V144M;ENSP00000423243:V106M;ENSP00000422564:V144M;ENSP00000421589:V144M;ENSP00000423527:V144M	ENSP00000295971:V144M	V	-	1	0	RBM47	40135238	1.000000	0.71417	1.000000	0.80357	0.234000	0.25298	7.818000	0.86416	2.631000	0.89168	0.313000	0.20887	GTG		0.637	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027	
LRRC66	339977	broad.mit.edu	37	4	52869513	52869513	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:52869513T>C	ENST00000343457.3	-	2	548	c.542A>G	c.(541-543)aAt>aGt	p.N181S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	181						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CAATATCCCATTGAATGACAG	0.383																																						uc003gzi.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(541-543)AAT>AGT		leucine rich repeat containing 66							166.0	152.0	157.0					4																	52869513		1858	4099	5957	SO:0001583	missense	339977					integral to membrane		g.chr4:52869513T>C	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.542A>G	4.37:g.52869513T>C	ENSP00000341944:p.Asn181Ser						p.N181S	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			2	555	-			181			LRR 4.			Missense_Mutation	SNP	ENST00000343457.3	37	c.542A>G	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.105922	0.37145	.	.	ENSG00000188993	ENST00000343457	T	0.67345	-0.26	5.44	4.27	0.50696	.	0.000000	0.52532	D	0.000067	D	0.82995	0.5158	M	0.91872	3.25	0.27723	N	0.945057	D	0.89917	1.0	D	0.76071	0.987	T	0.77081	-0.2720	10	0.87932	D	0	-28.5325	8.9574	0.35827	0.0:0.0839:0.0:0.9161	.	181	Q68CR7	LRC66_HUMAN	S	181	ENSP00000341944:N181S	ENSP00000341944:N181S	N	-	2	0	LRRC66	52564270	0.996000	0.38824	0.776000	0.31678	0.087000	0.18053	3.059000	0.49947	1.093000	0.41377	-0.250000	0.11733	AAT		0.383	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611	
SULT1B1	27284	broad.mit.edu	37	4	70596318	70596318	+	Missense_Mutation	SNP	G	G	A	rs374341407		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:70596318G>A	ENST00000310613.3	-	7	976	c.679C>T	c.(679-681)Cac>Tac	p.H227Y		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	227					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AATGAGGTGTGATGGATGATC	0.378																																						uc003hen.2																			0					0						c.(679-681)CAC>TAC		sulfotransferase family, cytosolic, 1B, member		G	TYR/HIS	0,4406		0,0,2203	167.0	153.0	158.0		679	3.2	0.6	4		158	1,8599	1.2+/-3.3	0,1,4299	no	missense	SULT1B1	NM_014465.3	83	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	227/297	70596318	1,13005	2203	4300	6503	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70596318G>A	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.679C>T	4.37:g.70596318G>A	ENSP00000308770:p.His227Tyr						p.H227Y	NM_014465	NP_055280	O43704	ST1B1_HUMAN			7	977	-			227			PAPS (By similarity).		O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.679C>T	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737354	0.49045	0.0	1.16E-4	ENSG00000173597	ENST00000310613	D	0.83755	-1.76	4.09	3.24	0.37175	Sulfotransferase domain (1);	0.128947	0.34750	N	0.003704	D	0.87557	0.6207	M	0.86420	2.815	0.37130	D	0.901239	P	0.49447	0.924	P	0.51355	0.667	D	0.89318	0.3638	10	0.62326	D	0.03	.	9.6753	0.40037	0.1058:0.0:0.8942:0.0	.	227	O43704	ST1B1_HUMAN	Y	227	ENSP00000308770:H227Y	ENSP00000308770:H227Y	H	-	1	0	SULT1B1	70630907	0.988000	0.35896	0.605000	0.28930	0.842000	0.47809	2.059000	0.41384	0.848000	0.35191	0.467000	0.42956	CAC		0.378	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465	
PRR27	401137	broad.mit.edu	37	4	71021774	71021774	+	Missense_Mutation	SNP	C	C	T	rs577881430	byFrequency	TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:71021774C>T	ENST00000344526.5	+	2	244	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	C4orf40_ENST00000502294.1_Missense_Mutation_p.R19W|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		19						extracellular vesicular exosome (GO:0070062)		p.R19W(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ATTTTAGAGACGGTTCCCCTT	0.259													C|||	2	0.000399361	0.0	0.0	5008	,	,		14117	0.0		0.0	False		,,,				2504	0.002					uc003hfa.3																			1	Substitution - Missense(1)		breast(1)		0						c.(55-57)CGG>TGG		hypothetical protein LOC401137 precursor							36.0	38.0	37.0					4																	71021774		2197	4277	6474	SO:0001583	missense	401137					extracellular region		g.chr4:71021774C>T																												ENST00000344526.5:c.55C>T	4.37:g.71021774C>T	ENSP00000343172:p.Arg19Trp					C4orf40_uc003hfb.3_Missense_Mutation_p.R19W	p.R19W	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN			3	128	+			19					A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	c.55C>T	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118357	0.37339	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.53857	0.6;0.6	3.32	0.36	0.16097	.	.	.	.	.	T	0.49864	0.1582	N	0.14661	0.345	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.37478	-0.9704	9	0.72032	D	0.01	-1.7275	5.6024	0.17361	0.0:0.5813:0.0:0.4187	.	19	Q6MZM9	CD040_HUMAN	W	19	ENSP00000426249:R19W;ENSP00000343172:R19W	ENSP00000343172:R19W	R	+	1	2	C4orf40	71056363	0.006000	0.16342	0.004000	0.12327	0.030000	0.12068	-0.174000	0.09839	0.032000	0.15435	0.603000	0.83216	CGG		0.259	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1		
AFM	173	broad.mit.edu	37	4	74365901	74365901	+	Missense_Mutation	SNP	A	A	C	rs149561663		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:74365901A>C	ENST00000226355.3	+	12	1696	c.1603A>C	c.(1603-1605)Atg>Ctg	p.M535L		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	535	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCACGCAGACATGTGTCAATC	0.393																																						uc003hhb.2																			0				ovary(2)|central_nervous_system(1)	3						c.(1603-1605)ATG>CTG		afamin precursor							92.0	88.0	89.0					4																	74365901		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74365901A>C	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1603A>C	4.37:g.74365901A>C	ENSP00000226355:p.Met535Leu						p.M535L	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		12	1634	+	Breast(15;0.00102)		535			Albumin 3.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.1603A>C	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	A	0.156	-1.086083	0.01873	.	.	ENSG00000079557	ENST00000226355	T	0.71461	-0.57	5.64	1.91	0.25777	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.704071	0.13436	N	0.388059	T	0.29716	0.0742	N	0.00778	-1.195	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34976	-0.9807	10	0.02654	T	1	.	3.5949	0.08002	0.1703:0.1782:0.0:0.6515	.	535	P43652	AFAM_HUMAN	L	535	ENSP00000226355:M535L	ENSP00000226355:M535L	M	+	1	0	AFM	74584765	0.994000	0.37717	0.235000	0.24058	0.063000	0.16089	1.148000	0.31614	0.103000	0.17682	-1.142000	0.01873	ATG		0.393	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2		
ETNPPL	64850	broad.mit.edu	37	4	109667553	109667553	+	Splice_Site	SNP	A	A	G			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:109667553A>G	ENST00000296486.3	-	11	1458		c.e11+1		ETNPPL_ENST00000411864.2_Splice_Site|ETNPPL_ENST00000510706.1_Splice_Site|ETNPPL_ENST00000512646.1_Splice_Site	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase							mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										CCATGGACCCACCTGTTAGAA	0.413																																						uc003hzc.2																			0				ovary(1)	1						c.e11+1		alanine-glyoxylate aminotransferase 2-like 1							88.0	80.0	83.0					4																	109667553		2203	4300	6503	SO:0001630	splice_region_variant	64850				cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr4:109667553A>G	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1303+1T>C	4.37:g.109667553A>G						AGXT2L1_uc010imc.2_Splice_Site_p.V429_splice|AGXT2L1_uc011cfm.1_Splice_Site_p.V395_splice|AGXT2L1_uc011cfn.1_Splice_Site_p.V362_splice|AGXT2L1_uc011cfo.1_Splice_Site_p.V377_splice	p.V435_splice	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	11	1484	-								B7Z1Y0|E9PBY0|Q9H174	Splice_Site	SNP	ENST00000296486.3	37	c.1303_splice	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.014247	0.35511	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5961	0.68407	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AGXT2L1	109887002	1.000000	0.71417	0.877000	0.34402	0.101000	0.19017	9.132000	0.94455	1.832000	0.53329	0.528000	0.53228	.		0.413	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279	Intron
SEC24D	9871	broad.mit.edu	37	4	119745869	119745870	+	Frame_Shift_Ins	INS	-	-	G	rs141446866|rs370196904		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:119745869_119745870insG	ENST00000280551.6	-	3	391_392	c.153_154insC	c.(151-156)accgccfs	p.A52fs	SEC24D_ENST00000379735.5_Frame_Shift_Ins_p.A52fs|SEC24D_ENST00000419654.2_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	52	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CCCCTAGTGGCGGTGGCCCCCA	0.54																																						uc003ici.3																			0					0						c.(151-156)ACCGCCfs		Sec24-related protein D																																				SO:0001589	frameshift_variant	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119745869_119745870insG	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.154dupC	4.37:g.119745871_119745871dupG	ENSP00000280551:p.Ala52fs					SEC24D_uc003icj.3_Frame_Shift_Ins_p.T51fs|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA|SEC24D_uc011cgg.1_RNA	p.T51fs	NM_014822	NP_055637	O94855	SC24D_HUMAN			3	425_426	-			51_52			Pro-rich.		Q8IYI7	Frame_Shift_Ins	INS	ENST00000280551.6	37	c.153_154insC	CCDS3710.1																																																																																				0.540	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4		
SYNPO2	171024	broad.mit.edu	37	4	119948017	119948017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:119948017C>T	ENST00000429713.2	+	3	675	c.493C>T	c.(493-495)Caa>Taa	p.Q165*	SYNPO2_ENST00000307142.4_Nonsense_Mutation_p.Q165*|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Nonsense_Mutation_p.Q165*	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	165						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCCGAGCTACCAAAGGGCTCC	0.557																																						uc003icm.3																			0				ovary(2)	2						c.(493-495)CAA>TAA		synaptopodin 2 isoform b							35.0	39.0	38.0					4																	119948017		2203	4300	6503	SO:0001587	stop_gained	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119948017C>T	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.493C>T	4.37:g.119948017C>T	ENSP00000395143:p.Gln165*					SYNPO2_uc010ina.2_Nonsense_Mutation_p.Q165*|SYNPO2_uc010inb.2_Nonsense_Mutation_p.Q165*|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Nonsense_Mutation_p.Q93*	p.Q165*	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN			3	689	+			165					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Nonsense_Mutation	SNP	ENST00000429713.2	37	c.493C>T	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.13|12.13	1.844257|1.844257	0.32606|0.32606	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000307142;ENST00000429713;ENST00000434046	.|.	.|.	.|.	4.22|4.22	3.37|3.37	0.38596|0.38596	.|.	.|1.118670	.|0.06924	.|N	.|0.809921	T|.	0.23965|.	0.0580|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31138|.	-0.9954|.	4|.	.|0.20046	.|T	.|0.44	2.2705|2.2705	5.901|5.901	0.18965|0.18965	0.2434:0.6537:0.0:0.1029|0.2434:0.6537:0.0:0.1029	.|.	.|.	.|.	.|.	L|X	116|165	.|.	.|ENSP00000306015:Q165X	P|Q	+|+	2|1	0|0	SYNPO2|SYNPO2	120167465|120167465	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.127000|0.127000	0.20565|0.20565	1.100000|1.100000	0.31025|0.31025	0.890000|0.890000	0.36211|0.36211	0.557000|0.557000	0.71058|0.71058	CCA|CAA		0.557	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1		
CAMK4	814	broad.mit.edu	37	5	110818505	110818505	+	Missense_Mutation	SNP	A	A	C			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr5:110818505A>C	ENST00000282356.4	+	10	1249	c.851A>C	c.(850-852)gAt>gCt	p.D284A	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.D284A	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	284	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATTGTTTTGGATCCAAAGAAA	0.423																																						uc011cvj.1																			0				ovary(3)|lung(2)	5						c.(850-852)GAT>GCT		calcium/calmodulin-dependent protein kinase IV							86.0	88.0	87.0					5																	110818505		2202	4300	6502	SO:0001583	missense	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110818505A>C	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.851A>C	5.37:g.110818505A>C	ENSP00000282356:p.Asp284Ala					CAMK4_uc003kpf.2_Missense_Mutation_p.D284A|CAMK4_uc010jbv.2_Missense_Mutation_p.D87A|CAMK4_uc003kpg.2_5'UTR	p.D284A	NM_001744	NP_001735	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	11	950	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	284			Protein kinase.		D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	c.851A>C	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.708668	0.89018	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.57907	0.37;0.37	5.23	5.23	0.72850	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77558	0.4148	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.83556	0.0104	10	0.87932	D	0	.	15.1281	0.72497	1.0:0.0:0.0:0.0	.	284	Q16566	KCC4_HUMAN	A	284	ENSP00000422634:D284A;ENSP00000282356:D284A	ENSP00000282356:D284A	D	+	2	0	CAMK4	110846404	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.840000	0.92125	1.964000	0.57103	0.460000	0.39030	GAT		0.423	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744	
PCDHB7	56129	broad.mit.edu	37	5	140553289	140553289	+	Silent	SNP	G	G	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr5:140553289G>T	ENST00000231137.3	+	1	1047	c.873G>T	c.(871-873)acG>acT	p.T291T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	291	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCAAAACGTTTCAAATCA	0.418																																						uc003lit.2																			0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(871-873)ACG>ACT		protocadherin beta 7 precursor							82.0	87.0	85.0					5																	140553289		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553289G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.873G>T	5.37:g.140553289G>T							p.T291T	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1047	+			291			Extracellular (Potential).|Cadherin 3.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.873G>T	CCDS4249.1																																																																																				0.418	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
KIAA1244	57221	broad.mit.edu	37	6	138559683	138559683	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr6:138559683G>A	ENST00000251691.4	+	6	624	c.458G>A	c.(457-459)cGt>cAt	p.R153H		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGTCACCAGCGTAGCATAAAC	0.453																																						uc003qhu.2																			0				ovary(1)|skin(1)	2						c.(457-459)CGT>CAT		brefeldin A-inhibited guanine							172.0	151.0	158.0					6																	138559683		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138559683G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.458G>A	6.37:g.138559683G>A	ENSP00000251691:p.Arg153His						p.R153H	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	6	458	+	Breast(32;0.135)		153						Missense_Mutation	SNP	ENST00000251691.4	37	c.458G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	35	5.555126	0.96514	.	.	ENSG00000112379	ENST00000251691	T	0.04970	3.52	5.54	5.54	0.83059	.	0.122444	0.56097	D	0.000026	T	0.13713	0.0332	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02282	-1.1183	10	0.46703	T	0.11	-17.0849	19.8424	0.96695	0.0:0.0:1.0:0.0	.	153	Q5TH69	BIG3_HUMAN	H	153	ENSP00000251691:R153H	ENSP00000251691:R153H	R	+	2	0	KIAA1244	138601376	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.464000	0.97655	2.764000	0.94973	0.655000	0.94253	CGT		0.453	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
RNASET2	8635	broad.mit.edu	37	6	167360227	167360227	+	Splice_Site	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr6:167360227C>T	ENST00000508775.1	-	4	723	c.204G>A	c.(202-204)tgG>tgA	p.W68*	RNASET2_ENST00000496851.2_5'UTR|RNASET2_ENST00000366855.6_Splice_Site_p.W30*|RP11-514O12.4_ENST00000507747.1_Splice_Site_p.G49D|RNASET2_ENST00000476238.2_Splice_Site_p.W68*	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2	68					RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723)			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		TTTTATCGGGCCTGGAAATTC	0.348																																						uc003qve.2																			0					0						c.(202-204)TGG>TGA		ribonuclease T2 precursor							24.0	22.0	23.0					6																	167360227		2194	4287	6481	SO:0001630	splice_region_variant	8635				RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding	g.chr6:167360227C>T	AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297			21686	protein-coding gene	gene with protein product		612944				9192857	Standard	NM_003730		Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000508775.1:c.204-1G>A	6.37:g.167360227C>T						RNASET2_uc003qvh.2_Intron|RNASET2_uc003qvf.2_5'UTR|RNASET2_uc003qvg.2_Silent_p.K5K|RNASET2_uc003qvi.1_Intron	p.W68*	NM_003730	NP_003721	O00584	RNT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)	4	611	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	68					B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	Nonsense_Mutation	SNP	ENST00000508775.1	37	c.204G>A	CCDS5295.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.584401|5.584401	0.96578|0.96578	.|.	.|.	ENSG00000249141|ENSG00000026297	ENST00000507747|ENST00000366855;ENST00000508775;ENST00000476238;ENST00000478180;ENST00000310843;ENST00000425007	.|.	.|.	.|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.63581|.	0.2523|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69643|.	-0.5090|.	3|.	.|0.72032	.|D	.|0.01	.|.	14.4932|14.4932	0.67665|0.67665	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	49|30;68;68;68;68;68	.|.	.|ENSP00000308991:W68X	G|W	-|-	2|3	0|0	RP11-514O12.4|RNASET2	167280217|167280217	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.324000|0.324000	0.28378|0.28378	3.962000|3.962000	0.56766|0.56766	2.475000|2.475000	0.83589|0.83589	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.348	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043089.2	NM_003730	Nonsense_Mutation
ABCA13	154664	broad.mit.edu	37	7	48443394	48443394	+	Silent	SNP	C	C	T	rs199785430		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr7:48443394C>T	ENST00000435803.1	+	39	12012	c.11988C>T	c.(11986-11988)acC>acT	p.T3996T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3996	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGTCGAGGACCGTGGTTCTGG	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18070	0.0		0.0	False		,,,				2504	0.0					uc003toq.2																			0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(11986-11988)ACC>ACT		ATP binding cassette, sub-family A (ABC1),		C		1,4021		0,1,2010	89.0	91.0	90.0		11988	-12.0	0.2	7		90	0,8338		0,0,4169	no	coding-synonymous	ABCA13	NM_152701.3		0,1,6179	TT,TC,CC		0.0,0.0249,0.0081		3996/5059	48443394	1,12359	2011	4169	6180	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48443394C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11988C>T	7.37:g.48443394C>T						ABCA13_uc010kys.1_Silent_p.T1070T|ABCA13_uc003tos.1_Silent_p.T822T|ABCA13_uc010kyt.1_RNA	p.T3996T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			39	12013	+			3996			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.11988C>T	CCDS47584.1																																																																																				0.572	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
EIF4H	7458	broad.mit.edu	37	7	73601967	73601967	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr7:73601967G>T	ENST00000265753.8	+	2	225	c.86G>T	c.(85-87)gGt>gTt	p.G29V	EIF4H_ENST00000495187.1_3'UTR|EIF4H_ENST00000353999.6_Missense_Mutation_p.G29V	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	29					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						GGTGGCCATGGTTCCCGTAGC	0.527																																						uc003uad.1																			0					0						c.(85-87)GGT>GTT		eukaryotic translation initiation factor 4H							79.0	80.0	79.0					7																	73601967		2203	4300	6503	SO:0001583	missense	7458				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr7:73601967G>T		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"""RNA binding motif (RRM) containing"""	12741	protein-coding gene	gene with protein product		603431	"""Williams-Beuren syndrome chromosome region 1"""	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.86G>T	7.37:g.73601967G>T	ENSP00000265753:p.Gly29Val					RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_Missense_Mutation_p.G29V|EIF4H_uc010lbm.2_Missense_Mutation_p.G29V|EIF4H_uc003uae.1_Missense_Mutation_p.G29V|EIF4H_uc003uaf.1_Intron	p.G29V	NM_022170	NP_071496	Q15056	IF4H_HUMAN			2	94	+			29					A8K3R1|D3DXF6|D3DXF8	Missense_Mutation	SNP	ENST00000265753.8	37	c.86G>T	CCDS5564.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844990	0.91197	.	.	ENSG00000106682	ENST00000265753;ENST00000353999	T;T	0.35605	1.3;1.34	5.05	5.05	0.67936	Nucleotide-binding, alpha-beta plait (1);	0.110134	0.64402	D	0.000010	T	0.56978	0.2022	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	T	0.50625	-0.8806	10	0.27082	T	0.32	-17.1233	17.3253	0.87245	0.0:0.0:1.0:0.0	.	29;29;29;29	B4DMV6;Q75MU2;Q15056-2;Q15056	.;.;.;IF4H_HUMAN	V	29	ENSP00000265753:G29V;ENSP00000265754:G29V	ENSP00000265753:G29V	G	+	2	0	EIF4H	73239903	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.625000	0.83145	2.509000	0.84616	0.462000	0.41574	GGT		0.527	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170	
PILRA	29992	broad.mit.edu	37	7	99996939	99996939	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr7:99996939C>T	ENST00000198536.2	+	5	945	c.733C>T	c.(733-735)Cca>Tca	p.P245S	PILRA_ENST00000453419.1_Missense_Mutation_p.P172S|PILRA_ENST00000350573.2_Missense_Mutation_p.P172S|PILRA_ENST00000394000.2_Silent_p.S160S	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	245					signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACAGAGGAGCCATATGAGAA	0.502																																						uc003uuo.1																			0				skin(1)	1						c.(733-735)CCA>TCA		paired immunoglobulin-like type 2 receptor alpha							121.0	102.0	108.0					7																	99996939		2203	4300	6503	SO:0001583	missense	29992				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr7:99996939C>T	AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"""Immunoglobulin superfamily / V-set domain containing"""	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.733C>T	7.37:g.99996939C>T	ENSP00000198536:p.Pro245Ser					PILRA_uc011kjo.1_Missense_Mutation_p.P172S|PILRA_uc003uup.1_Missense_Mutation_p.P172S|PILRA_uc003uuq.1_Silent_p.S160S	p.P245S	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN			5	945	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		245			Cytoplasmic (Potential).		Q8NHI1	Missense_Mutation	SNP	ENST00000198536.2	37	c.733C>T	CCDS5691.1	.	.	.	.	.	.	.	.	.	.	C	6.545	0.468909	0.12461	.	.	ENSG00000085514	ENST00000198536;ENST00000453419;ENST00000350573	T;T;T	0.37584	1.19;2.26;1.19	4.45	-0.559	0.11792	.	0.983377	0.08270	N	0.971581	T	0.19565	0.0470	.	.	.	0.09310	N	1	B;B;B	0.12630	0.003;0.006;0.003	B;B;B	0.13407	0.004;0.009;0.004	T	0.28038	-1.0056	8	.	.	.	.	4.3744	0.11263	0.4367:0.3685:0.1948:0.0	.	172;172;245	C9JJ79;Q9UKJ1-3;Q9UKJ1	.;.;PILRA_HUMAN	S	245;172;172	ENSP00000198536:P245S;ENSP00000390026:P172S;ENSP00000340109:P172S	.	P	+	1	0	PILRA	99834875	0.031000	0.19500	0.037000	0.18230	0.078000	0.17371	-0.290000	0.08354	-0.086000	0.12550	-0.262000	0.10625	CCA		0.502	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1	NM_013439	
GRM8	2918	broad.mit.edu	37	7	126249517	126249517	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr7:126249517C>T	ENST00000339582.2	-	8	2201	c.1393G>A	c.(1393-1395)Gga>Aga	p.G465R	GRM8_ENST00000480995.1_Intron|GRM8_ENST00000405249.1_Silent_p.T488T|GRM8_ENST00000444921.2_Missense_Mutation_p.G465R|GRM8_ENST00000358373.3_Missense_Mutation_p.G465R			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	465					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GGAGCATCTCCGTTTTCATTA	0.378										HNSCC(24;0.065)																												uc003vlr.2																			0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1393-1395)GGA>AGA		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						141.0	121.0	128.0					7																	126249517		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126249517C>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1393G>A	7.37:g.126249517C>T	ENSP00000344173:p.Gly465Arg	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.G465R|GRM8_uc010lkz.1_RNA	p.G465R	NM_000845	NP_000836	O00222	GRM8_HUMAN			7	1704	-		Prostate(267;0.186)	465			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1393G>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259597	0.95368	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.91894	-2.93;-2.93;-2.93	5.45	5.45	0.79879	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.97536	0.9193	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.975;0.999	D	0.98683	1.0693	10	0.87932	D	0	.	18.2877	0.90119	0.0:1.0:0.0:0.0	.	465;465	O00222-2;O00222	.;GRM8_HUMAN	R	465	ENSP00000344173:G465R;ENSP00000409790:G465R;ENSP00000351142:G465R	ENSP00000344173:G465R	G	-	1	0	GRM8	126036753	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.792000	0.85828	2.535000	0.85469	0.563000	0.77884	GGA		0.378	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
IDO1	3620	broad.mit.edu	37	8	39782809	39782809	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr8:39782809T>A	ENST00000518237.1	+	9	1414	c.775T>A	c.(775-777)Ttt>Att	p.F259I	IDO1_ENST00000522495.1_Missense_Mutation_p.F259I|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	259					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	CCCAAAGGAGTTTGCAGGGGG	0.507																																						uc003xnm.2																			0				central_nervous_system(2)	2						c.(775-777)TTT>ATT		indoleamine 2,3-dioxygenase 1	L-Tryptophan(DB00150)						41.0	45.0	44.0					8																	39782809		1917	4128	6045	SO:0001583	missense	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39782809T>A	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.775T>A	8.37:g.39782809T>A	ENSP00000430950:p.Phe259Ile					IDO1_uc003xnn.2_RNA	p.F259I	NM_002164	NP_002155	P14902	I23O1_HUMAN			9	889	+			259					Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	c.775T>A	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.088457	0.55968	.	.	ENSG00000131203	ENST00000522495;ENST00000518237	T;T	0.52983	0.64;0.64	5.55	5.55	0.83447	.	0.305617	0.30809	N	0.008824	T	0.71039	0.3293	M	0.87547	2.89	0.22389	N	0.999143	D	0.71674	0.998	D	0.68483	0.958	T	0.68081	-0.5503	9	.	.	.	-17.4924	13.6954	0.62575	0.0:0.0:0.0:1.0	.	259	P14902	I23O1_HUMAN	I	259	ENSP00000430505:F259I;ENSP00000430950:F259I	.	F	+	1	0	IDO1	39901966	0.359000	0.24955	0.008000	0.14137	0.010000	0.07245	4.358000	0.59442	2.333000	0.79357	0.533000	0.62120	TTT		0.507	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164	
RAD21	5885	broad.mit.edu	37	8	117875483	117875483	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr8:117875483G>A	ENST00000297338.2	-	3	447	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	54					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CCTGATGTCCGTAATGCCATT	0.348																																						uc003yod.2																			0				lung(1)|skin(1)	2						c.(160-162)CGG>TGG		RAD21 homolog							143.0	138.0	140.0					8																	117875483		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117875483G>A	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.160C>T	8.37:g.117875483G>A	ENSP00000297338:p.Arg54Trp						p.R54W	NM_006265	NP_006256	O60216	RAD21_HUMAN			3	448	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		54					A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.160C>T	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140828	0.94560	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485;ENST00000519837;ENST00000522699	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.51	5.51	0.81932	Rad21/Rec8-like protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83422	0.5251	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89259	0.3596	10	0.87932	D	0	-4.9969	19.4192	0.94713	0.0:0.0:1.0:0.0	.	54	O60216	RAD21_HUMAN	W	54	ENSP00000297338:R54W;ENSP00000429342:R54W;ENSP00000427923:R54W;ENSP00000430524:R54W;ENSP00000428158:R54W	ENSP00000297338:R54W	R	-	1	2	RAD21	117944664	1.000000	0.71417	0.979000	0.43373	0.974000	0.67602	6.563000	0.73964	2.586000	0.87340	0.650000	0.86243	CGG		0.348	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265	
PALM2	114299	broad.mit.edu	37	9	112686091	112686091	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr9:112686091C>T	ENST00000374531.2	+	5	414	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L	AKAP2_ENST00000510514.5_Silent_p.L112L|PALM2-AKAP2_ENST00000374530.3_Silent_p.L112L|AKAP2_ENST00000555236.1_Silent_p.L112L|PALM2_ENST00000483909.1_Silent_p.L112L|PALM2_ENST00000314527.4_Silent_p.L112L|PALM2_ENST00000448454.2_Silent_p.L114L|PALM2-AKAP2_ENST00000302798.7_Silent_p.L112L	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	114					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CCTAGAGAAACTGAAGGAAAC	0.403																																						uc004bei.2																			0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(334-336)CTG>TTG		A kinase (PRKA) anchor protein 2 isoform 2							68.0	65.0	66.0					9																	112686091		2203	4300	6503	SO:0001819	synonymous_variant	445815						enzyme binding	g.chr9:112686091C>T	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.340C>T	9.37:g.112686091C>T						PALM2_uc004bef.2_Silent_p.L114L|PALM2_uc004beg.2_Silent_p.L114L|PALM2_uc004beh.3_Silent_p.L112L|PALM2-AKAP2_uc004bek.3_Silent_p.L112L|PALM2-AKAP2_uc004bej.3_Silent_p.L112L|PALM2-AKAP2_uc004bel.1_5'UTR	p.L112L	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			4	526	+			Error:Variant_position_missing_in_Q9Y2D5_after_alignment					A9Z1X9|Q8N9D5|Q96DU1	Silent	SNP	ENST00000374531.2	37	c.334C>T	CCDS35099.1																																																																																				0.403	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293	
SERPINA7	6906	broad.mit.edu	37	X	105280734	105280734	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chrX:105280734C>T	ENST00000327674.4	-	1	651	c.316G>A	c.(316-318)Gta>Ata	p.V106I	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Missense_Mutation_p.V106I			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	106					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V106L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TGGATCTCTACCATTGGAGTG	0.478																																						uc004eme.1																			1	Substitution - Missense(1)		lung(1)		0						c.(316-318)GTA>ATA		serine (or cysteine) proteinase inhibitor, clade	Levothyroxine(DB00451)|Liothyronine(DB00279)						90.0	85.0	87.0					X																	105280734		2203	4299	6502	SO:0001583	missense	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280734C>T	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.316G>A	X.37:g.105280734C>T	ENSP00000329374:p.Val106Ile					SERPINA7_uc010npd.2_Missense_Mutation_p.V106I|SERPINA7_uc010npe.1_Missense_Mutation_p.V106I	p.V106I	NM_000354	NP_000345	P05543	THBG_HUMAN			1	332	-			106					D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	c.316G>A	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	C	0.844	-0.741076	0.03088	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.84223	-1.82;-1.82	4.9	-4.2	0.03823	Serpin domain (3);	1.431730	0.04120	N	0.316196	T	0.67011	0.2848	N	0.05306	-0.075	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53920	-0.8370	10	0.44086	T	0.13	.	4.5238	0.11971	0.4408:0.2746:0.0:0.2846	.	106	P05543	THBG_HUMAN	I	106	ENSP00000329374:V106I;ENSP00000361644:V106I	ENSP00000329374:V106I	V	-	1	0	SERPINA7	105167390	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.029000	0.00638	-1.459000	0.01914	-0.911000	0.02809	GTA		0.478	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354	
