#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SKI	6497	broad.mit.edu	37	1	2160628	2160628	+	Silent	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:2160628G>C	ENST00000378536.4	+	1	495	c.423G>C	c.(421-423)gcG>gcC	p.A141A		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	141					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		AGATCAACGCGGTGTGCGACG	0.632																																					Ovarian(177;144 1678 13697 20086 27838 40755)	uc001aja.3		NA																	0				lung(1)|central_nervous_system(1)	2						c.(421-423)GCG>GCC		v-ski sarcoma viral oncogene homolog							27.0	24.0	25.0					1																	2160628		2192	4295	6487	SO:0001819	synonymous_variant	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2160628G>C	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.423G>C	1.37:g.2160628G>C							p.A141A	NM_003036	NP_003027	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	1	495	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		141					Q5SYT7	Silent	SNP	ENST00000378536.4	37	c.423G>C	CCDS39.1																																																																																				0.632	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		12	3	0	0	0	0	12	3				
PIK3CD	5293	broad.mit.edu	37	1	9775652	9775652	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:9775652C>T	ENST00000377346.4	+	4	390	c.195C>T	c.(193-195)ccC>ccT	p.P65P	PIK3CD_ENST00000536656.1_Silent_p.P65P|PIK3CD_ENST00000543390.1_5'Flank|PIK3CD_ENST00000361110.2_Silent_p.P65P	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	65	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TCAGTGGCCCCGAGGCCTATG	0.647																																						uc001aqb.3		NA																	0				lung(4)|skin(2)|central_nervous_system(1)	7						c.(193-195)CCC>CCT		catalytic phosphatidylinositol 3-kinase delta							60.0	57.0	58.0					1																	9775652		2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9775652C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.195C>T	1.37:g.9775652C>T						PIK3CD_uc001aqa.2_Silent_p.P65P|PIK3CD_uc010oaf.1_Silent_p.P65P|PIK3CD_uc001aqe.3_Silent_p.P65P	p.P65P	NM_005026	NP_005017	O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	4	403	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	65					A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.195C>T	CCDS104.1																																																																																				0.647	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		10	21	0	0	0	0	10	21				
PIK3CD	5293	broad.mit.edu	37	1	9776604	9776604	+	Missense_Mutation	SNP	C	C	T	rs373049250		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:9776604C>T	ENST00000377346.4	+	6	902	c.707C>T	c.(706-708)cCg>cTg	p.P236L	PIK3CD_ENST00000536656.1_Missense_Mutation_p.P236L|PIK3CD_ENST00000543390.1_5'Flank|PIK3CD_ENST00000361110.2_Missense_Mutation_p.P236L	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	236	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GTGGAGCAGCCGGAAGACTAC	0.642																																						uc001aqb.3		NA																	0				lung(4)|skin(2)|central_nervous_system(1)	7						c.(706-708)CCG>CTG		catalytic phosphatidylinositol 3-kinase delta		C	LEU/PRO	0,4402		0,0,2201	31.0	26.0	28.0		707	5.6	0.9	1		28	1,8597		0,1,4298	no	missense	PIK3CD	NM_005026.3	98	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	236/1045	9776604	1,12999	2201	4299	6500	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9776604C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.707C>T	1.37:g.9776604C>T	ENSP00000366563:p.Pro236Leu					PIK3CD_uc010oaf.1_Missense_Mutation_p.P236L|PIK3CD_uc001aqe.3_Missense_Mutation_p.P236L	p.P236L	NM_005026	NP_005017	O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	6	915	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	236					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.707C>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	35	5.475149	0.96291	0.0	1.16E-4	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.49432	0.78;0.78;0.78	5.59	5.59	0.84812	Phosphoinositide 3-kinase, ras-binding (2);	0.000000	0.53938	D	0.000048	T	0.70701	0.3254	M	0.73962	2.25	0.80722	D	1	P;D;D	0.89917	0.955;0.986;1.0	P;P;D	0.78314	0.658;0.85;0.991	T	0.72966	-0.4131	10	0.72032	D	0.01	-31.0285	19.59	0.95506	0.0:1.0:0.0:0.0	.	236;236;236	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	L	236	ENSP00000446444:P236L;ENSP00000366563:P236L;ENSP00000354410:P236L	ENSP00000353766:P236L	P	+	2	0	PIK3CD	9699191	1.000000	0.71417	0.881000	0.34555	0.801000	0.45260	5.471000	0.66762	2.639000	0.89480	0.655000	0.94253	CCG		0.642	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		3	4	0	0	0	0	3	4				
PLOD1	5351	broad.mit.edu	37	1	12016977	12016977	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:12016977A>T	ENST00000196061.4	+	7	674	c.647A>T	c.(646-648)gAg>gTg	p.E216V	PLOD1_ENST00000376369.3_Missense_Mutation_p.E263V|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	216					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	CCCCCAGATGAGGTCGTGCTC	0.587																																						uc001atm.2		NA																	0				ovary(2)|breast(1)	3						c.(646-648)GAG>GTG		lysyl hydroxylase 1 precursor	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						152.0	126.0	135.0					1																	12016977		2203	4300	6503	SO:0001583	missense	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12016977A>T	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.647A>T	1.37:g.12016977A>T	ENSP00000196061:p.Glu216Val					PLOD1_uc010obb.1_Missense_Mutation_p.E263V	p.E216V	NM_000302	NP_000293	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	7	738	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	216					B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.647A>T	CCDS142.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.315416	0.81358	.	.	ENSG00000083444	ENST00000376369;ENST00000196061	T;T	0.36340	1.26;1.26	4.22	4.22	0.49857	.	0.132440	0.53938	D	0.000057	T	0.56396	0.1982	M	0.81112	2.525	0.80722	D	1	D;D	0.71674	0.998;0.973	P;P	0.59357	0.856;0.694	T	0.64175	-0.6469	10	0.87932	D	0	.	12.6636	0.56828	1.0:0.0:0.0:0.0	.	263;216	B4DR87;Q02809	.;PLOD1_HUMAN	V	263;216	ENSP00000365548:E263V;ENSP00000196061:E216V	ENSP00000196061:E216V	E	+	2	0	PLOD1	11939564	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	9.062000	0.93920	1.780000	0.52325	0.459000	0.35465	GAG		0.587	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		17	13	0	0	0	0	17	13				
NBPF1	55672	broad.mit.edu	37	1	16901659	16901659	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:16901659C>A	ENST00000430580.2	-	20	3072	c.2185G>T	c.(2185-2187)Gcc>Tcc	p.A729S	NBPF1_ENST00000432949.1_Missense_Mutation_p.A187S|NBPF1_ENST00000287968.8_Missense_Mutation_p.A94S|NBPF1_ENST00000420031.2_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	729	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TACCTGGGGGCAGACGATTTC	0.423																																						uc009vos.1		NA																	0					0						c.(2185-2187)GCC>TCC		hypothetical protein LOC55672							200.0	226.0	217.0					1																	16901659		1502	2675	4177	SO:0001583	missense	55672					cytoplasm		g.chr1:16901659C>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2185G>T	1.37:g.16901659C>A	ENSP00000474456:p.Ala729Ser					NBPF1_uc009vot.1_Missense_Mutation_p.A187S|NBPF1_uc001ayz.1_Missense_Mutation_p.A187S|NBPF1_uc010oce.1_Missense_Mutation_p.A458S	p.A729S	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	20	3073	-			729			NBPF 3.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2185G>T																																																																																					0.423	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		8	200	1	0	9.7e-10	1.17e-09	8	200				
C1orf94	84970	broad.mit.edu	37	1	34667770	34667770	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:34667770C>T	ENST00000488417.1	+	4	1476	c.1356C>T	c.(1354-1356)acC>acT	p.T452T	C1orf94_ENST00000373374.3_Silent_p.T262T	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	452										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CAGCCATGACCTCAGCAACCC	0.507																																						uc001bxs.3		NA																	0					0						c.(784-786)ACC>ACT		hypothetical protein LOC84970 isoform b							202.0	165.0	177.0					1																	34667770		2203	4300	6503	SO:0001819	synonymous_variant	84970						protein binding	g.chr1:34667770C>T	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1356C>T	1.37:g.34667770C>T						C1orf94_uc001bxt.2_Silent_p.T452T	p.T262T	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN			4	1185	+		Myeloproliferative disorder(586;0.0393)	262					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Silent	SNP	ENST00000488417.1	37	c.786C>T	CCDS44108.1																																																																																				0.507	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		38	11	0	0	0	0	38	11				
KTI12	112970	broad.mit.edu	37	1	52499425	52499425	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:52499425G>A	ENST00000371614.1	-	1	63	c.9C>T	c.(7-9)ctC>ctT	p.L3L	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron|TXNDC12_ENST00000610127.1_3'UTR	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	3							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						AAAACACCACGAGCGGCATCC	0.662																																						uc001ctj.1		NA																	0				central_nervous_system(2)	2						c.(7-9)CTC>CTT		KTI12 homolog, chromatin associated							9.0	10.0	10.0					1																	52499425		2146	4192	6338	SO:0001819	synonymous_variant	112970						ATP binding	g.chr1:52499425G>A		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.9C>T	1.37:g.52499425G>A						TXNDC12_uc001cti.2_Intron	p.L3L	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN			1	48	-			3						Silent	SNP	ENST00000371614.1	37	c.9C>T	CCDS562.1																																																																																				0.662	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		8	3	0	0	0	0	8	3				
ELTD1	64123	broad.mit.edu	37	1	79403504	79403504	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:79403504A>T	ENST00000370742.3	-	6	811	c.748T>A	c.(748-750)Tca>Aca	p.S250T		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	250					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ATATCCGTTGAATTTGTATCA	0.378																																						uc001diq.3		NA																	0				ovary(1)|skin(1)	2						c.(748-750)TCA>ACA		EGF, latrophilin and seven transmembrane domain							157.0	145.0	149.0					1																	79403504		1826	4081	5907	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79403504A>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.748T>A	1.37:g.79403504A>T	ENSP00000359778:p.Ser250Thr						p.S250T	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	6	904	-			250			Extracellular (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.748T>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	A	5.817	0.335072	0.11013	.	.	ENSG00000162618	ENST00000370742	T	0.06371	3.31	5.79	5.79	0.91817	Domain of unknown function DUF3497 (1);	0.053952	0.64402	D	0.000001	T	0.03178	0.0093	L	0.50333	1.59	0.33413	D	0.578853	B	0.21452	0.056	B	0.27076	0.076	T	0.37384	-0.9708	9	.	.	.	.	11.5949	0.50968	0.7331:0.2668:0.0:0.0	.	250	Q9HBW9	ELTD1_HUMAN	T	250	ENSP00000359778:S250T	.	S	-	1	0	ELTD1	79176092	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	1.834000	0.39171	2.200000	0.70718	0.455000	0.32223	TCA		0.378	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		61	51	0	0	0	0	61	51				
RTCA	8634	broad.mit.edu	37	1	100752670	100752670	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:100752670G>A	ENST00000370128.4	+	10	1079	c.910G>A	c.(910-912)Gca>Aca	p.A304T	RTCA_ENST00000260563.4_Missense_Mutation_p.A317T	NM_003729.3	NP_003720.1	O00442	RTCA_HUMAN	RNA 3'-terminal phosphate cyclase	304					RNA processing (GO:0006396)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA-3'-phosphate cyclase activity (GO:0003963)										TGTTTTCATGGCATTAGCCAA	0.338																																						uc001dtc.2		NA																	0					0						c.(910-912)GCA>ACA		RNA terminal phosphate cyclase domain 1 isoform							81.0	79.0	80.0					1																	100752670		2203	4300	6503	SO:0001583	missense	8634				RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity	g.chr1:100752670G>A	Y11651	CCDS768.1, CCDS44178.1	1p13.3	2012-03-30	2012-03-30	2012-03-30	ENSG00000137996	ENSG00000137996	6.5.1.4		17981	protein-coding gene	gene with protein product		611286	"""RTC domain containing 1"", ""RNA terminal phosphate cyclase domain 1"""	RTCD1		9184239	Standard	NM_003729		Approved	RPC, RTC1	uc001dtd.3	O00442	OTTHUMG00000010920	ENST00000370128.4:c.910G>A	1.37:g.100752670G>A	ENSP00000359146:p.Ala304Thr					RTCD1_uc001dtd.2_Missense_Mutation_p.A317T	p.A304T	NM_003729	NP_003720	O00442	RTC1_HUMAN		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	10	1128	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	304					Q5VVL5|Q5VVL6|Q96E99	Missense_Mutation	SNP	ENST00000370128.4	37	c.910G>A	CCDS768.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882626	0.91740	.	.	ENSG00000137996	ENST00000370128;ENST00000260563	.	.	.	5.77	5.77	0.91146	-terminal phosphate cyclase domain (2);RNA 3&apos (4);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);-terminal phosphate cyclase (1);	0.000000	0.85682	D	0.000000	T	0.80944	0.4721	M	0.86097	2.795	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69654	0.965;0.951	T	0.80614	-0.1304	9	0.48119	T	0.1	-19.8558	18.1351	0.89616	0.0:0.0:1.0:0.0	.	317;304	O00442-2;O00442	.;RTC1_HUMAN	T	304;317	.	ENSP00000260563:A317T	A	+	1	0	RTCD1	100525258	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.319000	0.79040	2.885000	0.99019	0.655000	0.94253	GCA		0.338	RTCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030098.2			3	42	0	0	0	0	3	42				
COL11A1	1301	broad.mit.edu	37	1	103449722	103449723	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:103449722_103449723GG>TT	ENST00000370096.3	-	31	2839_2840	c.2527_2528CC>AA	c.(2527-2529)CCa>AAa	p.P843K	COL11A1_ENST00000358392.2_Missense_Mutation_p.P855K|COL11A1_ENST00000512756.1_Missense_Mutation_p.P727K|COL11A1_ENST00000353414.4_Missense_Mutation_p.P804K	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	843	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGATATCCTGGTAATCCTGGA	0.262																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2527-2529)CCA>AAA		alpha 1 type XI collagen isoform A																																				SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103449722_103449723GG>TT	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2527_2528delinsTT	1.37:g.103449722_103449723delinsTT	ENSP00000359114:p.Pro843Lys					COL11A1_uc001duk.2_Nonsense_Mutation_p.33_34YQ>*K|COL11A1_uc001dum.2_Missense_Mutation_p.P855K|COL11A1_uc001dun.2_Missense_Mutation_p.P804K|COL11A1_uc009weh.2_Missense_Mutation_p.P727K	p.P843K	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	31	2845_2846	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	843			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	DNP	ENST00000370096.3	37	c.2527_2528CC>AA	CCDS778.1																																																																																				0.262	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		7	9	0	0	0	0	7	9				
NOTCH2NL	388677	broad.mit.edu	37	1	145273384	145273384	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:145273384G>T	ENST00000369340.3	+	4	682	c.238G>T	c.(238-240)Ggc>Tgc	p.G80C	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80C|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80C|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80C			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	80	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CCTGAATGGCGGCACATGCCA	0.532																																						uc001emn.3		NA																	0				ovary(1)	1						c.(238-240)GGC>TGC		Notch homolog 2 N-terminal like protein							409.0	376.0	387.0					1																	145273384		2203	4300	6503	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145273384G>T		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.238G>T	1.37:g.145273384G>T	ENSP00000358346:p.Gly80Cys					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Missense_Mutation_p.G80C|NOTCH2NL_uc001emo.2_Missense_Mutation_p.G80C|NOTCH2NL_uc010oyh.1_RNA	p.G80C	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN			3	608	+			80			EGF-like 3.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.238G>T	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519932	0.44866	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.97480	-4.4;-4.4;-4.4	2.75	2.75	0.32379	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.98592	0.9529	H	0.95224	3.64	0.39181	D	0.962782	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99320	1.0906	9	0.87932	D	0	.	11.2552	0.49050	0.0:0.0:1.0:0.0	.	80;80	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	C	80	ENSP00000354929:G80C;ENSP00000344557:G80C;ENSP00000358346:G80C	ENSP00000344557:G80C	G	+	1	0	NOTCH2NL	143984741	1.000000	0.71417	0.995000	0.50966	0.226000	0.24999	8.043000	0.89432	1.532000	0.49169	0.394000	0.25966	GGC		0.532	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		48	525	1	0	5.57e-27	7.78e-27	48	525				
SNX27	81609	broad.mit.edu	37	1	151641106	151641106	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:151641106C>T	ENST00000458013.2	+	7	1264	c.1144C>T	c.(1144-1146)Cat>Tat	p.H382Y	SNX27_ENST00000368843.3_Missense_Mutation_p.H382Y|SNX27_ENST00000368838.1_Missense_Mutation_p.H289Y|SNX27_ENST00000482791.1_3'UTR			Q96L92	SNX27_HUMAN	sorting nexin family member 27	382	FERM-like region F2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTACTTCTTTCATCAGGTAGG	0.388																																					Colon(46;291 966 40145 41237 41888)	uc001eyn.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1144-1146)CAT>TAT		sorting nexin family member 27							65.0	63.0	63.0					1																	151641106		2203	4300	6503	SO:0001583	missense	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151641106C>T	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1144C>T	1.37:g.151641106C>T	ENSP00000400333:p.His382Tyr					SNX27_uc001eyo.2_Missense_Mutation_p.H289Y|SNX27_uc001eyp.2_Missense_Mutation_p.H196Y	p.H382Y	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	1160	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		382					Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37	c.1144C>T		.	.	.	.	.	.	.	.	.	.	C	9.213	1.031493	0.19590	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.50548	0.74;0.74;0.95	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.20455	0.0492	L	0.39633	1.23	0.80722	D	1	B;B	0.15141	0.012;0.007	B;B	0.12156	0.007;0.007	T	0.13656	-1.0501	10	0.02654	T	1	.	17.2485	0.87035	0.0:1.0:0.0:0.0	.	382;382	Q96L92;Q96L92-3	SNX27_HUMAN;.	Y	382;382;289	ENSP00000400333:H382Y;ENSP00000357836:H382Y;ENSP00000357831:H289Y	ENSP00000357831:H289Y	H	+	1	0	SNX27	149907730	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.044000	0.76578	2.656000	0.90262	0.305000	0.20034	CAT		0.388	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		19	45	0	0	0	0	19	45				
S100A7A	338324	broad.mit.edu	37	1	153390678	153390678	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:153390678C>T	ENST00000368729.4	+	2	177	c.120C>T	c.(118-120)ttC>ttT	p.F40F	S100A7A_ENST00000329256.2_Silent_p.F40F|S100A7A_ENST00000368728.2_Silent_p.F40F	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	40	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)	p.F40F(1)		cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAGAACTTCCCCAATTTCC	0.488																																						uc001fbt.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(118-120)TTC>TTT		S100 calcium binding protein A7-like 1							183.0	159.0	167.0					1																	153390678		2203	4300	6503	SO:0001819	synonymous_variant	338324					cytoplasm	calcium ion binding	g.chr1:153390678C>T	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	21657	protein-coding gene	gene with protein product			"""S100 calcium binding protein A15"", ""S100 calcium binding protein A7-like 1"""	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.120C>T	1.37:g.153390678C>T							p.F40F	NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	177	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		40			EF-hand 1.		D3DV38|Q5SY69	Silent	SNP	ENST00000368729.4	37	c.120C>T	CCDS30872.1																																																																																				0.488	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		63	76	0	0	0	0	63	76				
CD1E	913	broad.mit.edu	37	1	158326571	158326571	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:158326571G>A	ENST00000368167.3	+	6	1291	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	CD1E_ENST00000444681.2_Missense_Mutation_p.G252E|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000452291.2_Missense_Mutation_p.G162E|CD1E_ENST00000368154.1_Missense_Mutation_p.G107E|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368155.3_Missense_Mutation_p.G194E|CD1E_ENST00000368165.3_Missense_Mutation_p.G261E|CD1E_ENST00000368166.3_Missense_Mutation_p.G150E|CD1E_ENST00000368160.3_Missense_Mutation_p.G339E|CD1E_ENST00000368156.1_Missense_Mutation_p.G249E|CD1E_ENST00000368157.1_Missense_Mutation_p.G95E|CD1E_ENST00000368163.3_Missense_Mutation_p.G284E	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	351					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTTCTCATGGGAGCCAACACT	0.428																																						uc001fse.2		NA																	0				skin(3)	3						c.(1051-1053)GGA>GAA		CD1E antigen isoform a precursor							105.0	101.0	102.0					1																	158326571		1900	4121	6021	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158326571G>A	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.1052G>A	1.37:g.158326571G>A	ENSP00000357149:p.Gly351Glu					CD1E_uc001fsd.2_3'UTR|CD1E_uc001fsk.2_Missense_Mutation_p.G261E|CD1E_uc001fsj.2_Missense_Mutation_p.G194E|CD1E_uc001fsc.2_Missense_Mutation_p.G162E|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.G107E|CD1E_uc001fsf.2_Missense_Mutation_p.G339E|CD1E_uc001fry.2_Missense_Mutation_p.G284E|CD1E_uc001fsg.2_3'UTR|CD1E_uc001fsh.2_Missense_Mutation_p.G150E|CD1E_uc001fsi.2_3'UTR|CD1E_uc009wsv.2_Missense_Mutation_p.G252E|CD1E_uc001frz.2_Missense_Mutation_p.G249E|CD1E_uc009wsw.2_Missense_Mutation_p.E66K	p.G351E	NM_030893	NP_112155	P15812	CD1E_HUMAN			6	1291	+	all_hematologic(112;0.0378)		351					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.1052G>A	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077420	0.36662	.	.	ENSG00000158488	ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368163;ENST00000368157;ENST00000368160;ENST00000368156;ENST00000368155;ENST00000368154	T;T;T;T;T;T;T;T;T;T;T	0.62941	4.72;4.19;2.79;2.76;3.33;2.02;-0.01;4.55;3.33;2.09;0.02	4.88	-8.86	0.00795	.	2.258080	0.01822	N	0.034153	T	0.42562	0.1208	L	0.38531	1.155	0.09310	N	1	B;P;B;B;B;B;B;D;P;B	0.89917	0.219;0.82;0.002;0.047;0.047;0.11;0.214;1.0;0.865;0.002	B;B;B;B;B;B;B;D;B;B	0.91635	0.061;0.305;0.004;0.046;0.046;0.02;0.062;0.999;0.391;0.004	T	0.64266	-0.6448	10	0.40728	T	0.16	5.1762	1.0347	0.01546	0.4339:0.2037:0.1567:0.2057	.	252;261;194;150;339;351;162;107;249;284	E7EP01;P15812-5;P15812-7;P15812-9;P15812-2;P15812;P15812-8;P15812-11;P15812-6;P15812-4	.;.;.;.;.;CD1E_HUMAN;.;.;.;.	E	252;351;162;261;150;284;95;339;249;194;107	ENSP00000402906:G252E;ENSP00000357149:G351E;ENSP00000416228:G162E;ENSP00000357147:G261E;ENSP00000357148:G150E;ENSP00000357145:G284E;ENSP00000357139:G95E;ENSP00000357142:G339E;ENSP00000357138:G249E;ENSP00000357137:G194E;ENSP00000357136:G107E	ENSP00000357136:G107E	G	+	2	0	CD1E	156593195	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.290000	0.08354	-2.442000	0.00549	-0.894000	0.02916	GGA		0.428	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		45	58	0	0	0	0	45	58				
SPTA1	6708	broad.mit.edu	37	1	158641244	158641244	+	Splice_Site	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:158641244C>A	ENST00000368147.4	-	12	1669		c.e12-1			NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1						actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGGAAGGCCTGTAGAAGAC	0.498																																						uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.e12-1		spectrin, alpha, erythrocytic 1							73.0	70.0	71.0					1																	158641244		1875	4097	5972	SO:0001630	splice_region_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158641244C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1489-1G>T	1.37:g.158641244C>A							p.A497_splice	NM_003126	NP_003117	P02549	SPTA1_HUMAN			12	1688	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37	c.1489_splice	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227058	0.79576	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4152	0.87498	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPTA1	156907868	1.000000	0.71417	0.998000	0.56505	0.864000	0.49448	6.856000	0.75450	2.692000	0.91855	0.655000	0.94253	.		0.498	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Intron	15	36	1	0	3.41e-10	4.16e-10	15	36				
OR6K2	81448	broad.mit.edu	37	1	158669573	158669573	+	Silent	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:158669573G>T	ENST00000359610.2	-	1	913	c.870C>A	c.(868-870)atC>atA	p.I290I		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TCAGGCTATAGATAATGGGGT	0.403																																						uc001fsu.1		NA																	0				pancreas(1)	1						c.(868-870)ATC>ATA		olfactory receptor, family 6, subfamily K,							77.0	75.0	76.0					1																	158669573		2203	4300	6503	SO:0001819	synonymous_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669573G>T	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.870C>A	1.37:g.158669573G>T							p.I290I	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	870	-	all_hematologic(112;0.0378)		290			Helical; Name=7; (Potential).		B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	c.870C>A	CCDS30902.1																																																																																				0.403	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		19	27	1	0	6.94e-10	8.42e-10	19	27				
ARHGAP30	257106	broad.mit.edu	37	1	161039369	161039369	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:161039369G>A	ENST00000368013.3	-	1	366	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	ARHGAP30_ENST00000368015.1_Intron|PVRL4_ENST00000486694.1_5'Flank|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R16W	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	16					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCAAAAACCCGCTCCTTTGCG	0.642																																						uc001fxl.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(46-48)CGG>TGG		Rho GTPase activating protein 30 isoform 1							107.0	97.0	101.0					1																	161039369		2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161039369G>A	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.46C>T	1.37:g.161039369G>A	ENSP00000356992:p.Arg16Trp					ARHGAP30_uc001fxk.2_Missense_Mutation_p.R16W|ARHGAP30_uc001fxm.2_5'UTR|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_5'UTR	p.R16W	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		1	392	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		16					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.46C>T	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216893	0.58452	.	.	ENSG00000186517	ENST00000368016;ENST00000368013	T;T	0.12361	2.69;2.69	4.64	3.71	0.42584	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.077093	0.51477	D	0.000092	T	0.18841	0.0452	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69307	0.963;0.949	T	0.01018	-1.1479	10	0.72032	D	0.01	.	9.8144	0.40842	0.0:0.0:0.6255:0.3745	.	16;16	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	W	16	ENSP00000356995:R16W;ENSP00000356992:R16W	ENSP00000356992:R16W	R	-	1	2	ARHGAP30	159305993	0.999000	0.42202	0.999000	0.59377	0.531000	0.34715	1.186000	0.32078	1.120000	0.41904	0.655000	0.94253	CGG		0.642	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		32	61	0	0	0	0	32	61				
CCDC181	57821	broad.mit.edu	37	1	169391451	169391451	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:169391451T>A	ENST00000367806.3	-	3	370	c.218A>T	c.(217-219)cAg>cTg	p.Q73L	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000545005.1_Missense_Mutation_p.Q73L|CCDC181_ENST00000367805.3_Missense_Mutation_p.Q73L	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	73						nucleus (GO:0005634)											GACCTCATCCTGCAAAGATTT	0.398																																						uc001gga.1		NA																	0					0						c.(217-219)CAG>CTG		hypothetical protein LOC57821							95.0	86.0	89.0					1																	169391451		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169391451T>A	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.218A>T	1.37:g.169391451T>A	ENSP00000356780:p.Gln73Leu					C1orf114_uc001gfz.1_Missense_Mutation_p.Q73L|C1orf114_uc009wvq.1_Missense_Mutation_p.Q73L|C1orf114_uc001ggb.2_Missense_Mutation_p.Q73L|C1orf114_uc001ggc.1_Missense_Mutation_p.Q73L	p.Q73L	NM_021179	NP_067002	Q5TID7	CA114_HUMAN			3	386	-	all_hematologic(923;0.208)		73					O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.218A>T		.	.	.	.	.	.	.	.	.	.	T	6.820	0.520378	0.13005	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.27	4.14	0.48551	.	0.498747	0.22337	N	0.061391	T	0.07052	0.0179	N	0.22421	0.69	0.25062	N	0.991051	B;B;B	0.20368	0.017;0.044;0.044	B;B;B	0.20955	0.022;0.032;0.032	T	0.10520	-1.0626	9	0.66056	D	0.02	-6.1116	7.8629	0.29520	0.0:0.1619:0.0:0.8381	.	73;73;73	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	L	73	ENSP00000356779:Q73L;ENSP00000356780:Q73L;ENSP00000442297:Q73L;ENSP00000411000:Q73L	ENSP00000356779:Q73L	Q	-	2	0	C1orf114	167658075	0.989000	0.36119	0.816000	0.32577	0.006000	0.05464	1.349000	0.33998	0.843000	0.35070	0.460000	0.39030	CAG		0.398	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		28	26	0	0	0	0	28	26				
F5	2153	broad.mit.edu	37	1	169505920	169505920	+	Splice_Site	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:169505920T>C	ENST00000367797.3	-	14	4998		c.e14-2		F5_ENST00000367796.3_Splice_Site	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)						blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TCTGTTTCCCTGAAATAATAA	0.323																																						uc001ggg.1		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.e14-1		coagulation factor V precursor	Drotrecogin alfa(DB00055)						49.0	51.0	51.0					1																	169505920		2203	4299	6502	SO:0001630	splice_region_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169505920T>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4797-2A>G	1.37:g.169505920T>C							p.R1599_splice	NM_000130	NP_000121	P12259	FA5_HUMAN			14	4942	-	all_hematologic(923;0.208)							A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Splice_Site	SNP	ENST00000367797.3	37	c.4797_splice	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.451427	0.26074	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	.	.	.	4.58	3.41	0.39046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2163	0.37348	0.0:0.0872:0.0:0.9128	.	.	.	.	.	-1	.	.	.	-	.	.	F5	167772544	0.991000	0.36638	0.024000	0.17045	0.003000	0.03518	2.962000	0.49176	0.818000	0.34468	0.533000	0.62120	.		0.323	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	Intron	19	37	0	0	0	0	19	37				
FASLG	356	broad.mit.edu	37	1	172628386	172628386	+	Silent	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:172628386G>C	ENST00000367721.2	+	1	229	c.45G>C	c.(43-45)gtG>gtC	p.V15V	FASLG_ENST00000340030.3_Silent_p.V15V	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	15	Pro-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						TCTACTGGGTGGACAGCAGTG	0.592																																					Ovarian(28;486 876 30334 44033)	uc001gis.2		NA																	0				lung(2)|breast(1)	3						c.(43-45)GTG>GTC		fas ligand							52.0	55.0	54.0					1																	172628386		2203	4300	6503	SO:0001819	synonymous_variant	356				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	g.chr1:172628386G>C	U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11936	protein-coding gene	gene with protein product		134638	"""tumor necrosis factor (ligand) superfamily, member 6"""	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.45G>C	1.37:g.172628386G>C						FASLG_uc001git.2_Silent_p.V15V	p.V15V	NM_000639	NP_000630	P48023	TNFL6_HUMAN			1	202	+			15			Pro-rich.|Cytoplasmic (Potential).		Q9BZP9	Silent	SNP	ENST00000367721.2	37	c.45G>C	CCDS1304.1																																																																																				0.592	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			5	61	0	0	0	0	5	61				
TNFSF4	7292	broad.mit.edu	37	1	173157708	173157708	+	Splice_Site	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:173157708C>G	ENST00000281834.3	-	2	290	c.154G>C	c.(154-156)Gta>Cta	p.V52L	TNFSF4_ENST00000488053.1_5'UTR|TNFSF4_ENST00000367718.1_Splice_Site_p.V2L	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	52					acute inflammatory response (GO:0002526)|CD4-positive, alpha-beta T cell costimulation (GO:0035783)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nitrogen dioxide (GO:0035714)|cellular response to prostaglandin E stimulus (GO:0071380)|chemokine (C-C motif) ligand 11 production (GO:0071954)|cholesterol metabolic process (GO:0008203)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|memory T cell activation (GO:0035709)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell activation (GO:0050871)|positive regulation of CD4-positive, alpha-beta T cell costimulation (GO:1900281)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-4-dependent isotype switching to IgE isotypes (GO:2000572)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of memory T cell activation (GO:2000568)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T-helper 2 cell activation (GO:2000570)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of type 2 immune response (GO:0002830)|regulation of adaptive immune response (GO:0002819)|regulation of inflammatory response (GO:0050727)|response to nitrogen dioxide (GO:0035713)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|T-helper 2 cell activation (GO:0035712)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						CGATGTGATACCTGAGGGAGG	0.328																																						uc001giw.2		NA																	0				central_nervous_system(1)	1						c.(154-156)GTA>CTA		tumor necrosis factor (ligand) superfamily,							86.0	98.0	94.0					1																	173157708		2203	4300	6503	SO:0001630	splice_region_variant	7292				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity	g.chr1:173157708C>G	D90224	CCDS1306.1, CCDS72985.1	1q25	2008-07-31	2008-07-31		ENSG00000117586	ENSG00000117586		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11934	protein-coding gene	gene with protein product		603594	"""tax-transcriptionally activated glycoprotein 1, 34kD"""	TXGP1		1996093, 8076595	Standard	XM_005245475		Approved	OX-40L, gp34, CD252	uc001giw.3	P23510	OTTHUMG00000034838	ENST00000281834.3:c.154-1G>C	1.37:g.173157708C>G						TNFSF4_uc001giv.2_Missense_Mutation_p.V2L	p.V52L	NM_003326	NP_003317	P23510	TNFL4_HUMAN			2	310	-			52			Extracellular (Potential).		Q5JZA5|Q8IV74|Q9HCN9	Missense_Mutation	SNP	ENST00000281834.3	37	c.154G>C	CCDS1306.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441581	0.63067	.	.	ENSG00000117586	ENST00000367718;ENST00000281834;ENST00000545292	.	.	.	4.31	4.31	0.51392	.	0.275863	0.25978	N	0.027084	T	0.45155	0.1328	M	0.65975	2.015	0.28913	N	0.892588	D;D	0.61080	0.978;0.989	P;P	0.55303	0.773;0.773	T	0.24941	-1.0146	9	0.31617	T	0.26	-3.3498	12.61	0.56546	0.0:1.0:0.0:0.0	.	52;2	P23510;Q8IV74	TNFL4_HUMAN;.	L	2;52;2	.	ENSP00000281834:V52L	V	-	1	0	TNFSF4	171424331	0.712000	0.27916	0.982000	0.44146	0.444000	0.32077	1.585000	0.36600	2.683000	0.91414	0.655000	0.94253	GTA		0.328	TNFSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084271.1		Missense_Mutation	17	99	0	0	0	0	17	99				
TNR	7143	broad.mit.edu	37	1	175306678	175306678	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:175306678C>A	ENST00000367674.2	-	19	4228	c.3520G>T	c.(3520-3522)Ggg>Tgg	p.G1174W	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.G1174W			Q92752	TENR_HUMAN	tenascin R	1174	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAGCCGCCCCCGTCGGTGGTC	0.507																																						uc001gkp.1		NA																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(3520-3522)GGG>TGG		tenascin R precursor							79.0	73.0	75.0					1																	175306678		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175306678C>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3520G>T	1.37:g.175306678C>A	ENSP00000356646:p.Gly1174Trp					TNR_uc009wwu.1_Missense_Mutation_p.G1174W	p.G1174W	NM_003285	NP_003276	Q92752	TENR_HUMAN			17	3601	-	Renal(580;0.146)		1174			Fibrinogen C-terminal.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3520G>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351981	0.82132	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.29917	1.55;1.55	5.23	5.23	0.72850	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.059072	0.64402	D	0.000002	T	0.72087	0.3417	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.84036	0.0362	10	0.87932	D	0	.	18.4114	0.90552	0.0:1.0:0.0:0.0	.	1174	Q92752	TENR_HUMAN	W	1174;1174;1084	ENSP00000356646:G1174W;ENSP00000263525:G1174W	ENSP00000263525:G1174W	G	-	1	0	TNR	173573301	0.998000	0.40836	0.681000	0.30009	0.953000	0.61014	7.380000	0.79704	2.431000	0.82371	0.561000	0.74099	GGG		0.507	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		35	52	1	0	2.87e-16	3.74e-16	35	52				
RFWD2	64326	broad.mit.edu	37	1	176012927	176012927	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:176012927C>G	ENST00000367669.3	-	13	1963	c.1449G>C	c.(1447-1449)aaG>aaC	p.K483N	RFWD2_ENST00000308769.8_Missense_Mutation_p.K459N	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	483					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTAACAGGTTCTTATGGTAAC	0.323																																					Ovarian(134;1413 1765 5706 35534 51541)	uc001gku.1		NA																	0					0						c.(1447-1449)AAG>AAC		ring finger and WD repeat domain 2 isoform a							181.0	185.0	183.0					1																	176012927		2203	4299	6502	SO:0001583	missense	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176012927C>G	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1449G>C	1.37:g.176012927C>G	ENSP00000356641:p.Lys483Asn					RFWD2_uc001gkv.1_Missense_Mutation_p.K459N|RFWD2_uc001gkw.1_Missense_Mutation_p.K243N|RFWD2_uc009wwv.2_Missense_Mutation_p.K282N|RFWD2_uc001gkt.1_Missense_Mutation_p.K322N	p.K483N	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN			13	1705	-			483			WD 2.		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	c.1449G>C	CCDS30944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.91|19.91	3.914523|3.914523	0.72983|0.72983	.|.	.|.	ENSG00000143207|ENSG00000143207	ENST00000367665;ENST00000367669;ENST00000367666;ENST00000308769|ENST00000459744	T;T;T|.	0.59906|.	0.23;0.23;0.23|.	5.76|5.76	4.85|4.85	0.62838|0.62838	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76212|0.76212	0.3956|0.3956	M|M	0.84773|0.84773	2.715|2.715	0.58432|0.58432	D|D	0.999998|0.999998	D;P;D;D;D|.	0.89917|.	0.999;0.925;1.0;0.991;0.991|.	D;D;D;D;D|.	0.91635|.	0.994;0.932;0.999;0.991;0.987|.	T|T	0.78349|0.78349	-0.2238|-0.2238	10|5	0.72032|.	D|.	0.01|.	-13.718|-13.718	11.4487|11.4487	0.50138|0.50138	0.0:0.8529:0.0:0.1471|0.0:0.8529:0.0:0.1471	.|.	258;243;459;483;483|.	Q8NHY2-3;B1AMD2;Q8NHY2-2;Q8NHY2;Q504W6|.	.;.;.;RFWD2_HUMAN;.|.	N|T	258;483;318;459|203	ENSP00000356641:K483N;ENSP00000356638:K318N;ENSP00000310943:K459N|.	ENSP00000310943:K459N|.	K|R	-|-	3|2	2|0	RFWD2|RFWD2	174279550|174279550	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.081000|3.081000	0.50120|0.50120	1.432000|1.432000	0.47375|0.47375	0.563000|0.563000	0.77884|0.77884	AAG|AGA		0.323	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		55	276	0	0	0	0	55	276				
HMCN1	83872	broad.mit.edu	37	1	185939517	185939517	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:185939517G>T	ENST00000271588.4	+	15	2492	c.2263G>T	c.(2263-2265)Gga>Tga	p.G755*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.G755*|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	755	Ig-like C2-type 4.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCTCTCTTGGGACTTTTGAA	0.408																																						uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(2263-2265)GGA>TGA		hemicentin 1 precursor							153.0	163.0	160.0					1																	185939517		2203	4300	6503	SO:0001587	stop_gained	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185939517G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2263G>T	1.37:g.185939517G>T	ENSP00000271588:p.Gly755*					HMCN1_uc001grr.1_Nonsense_Mutation_p.G96*	p.G755*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			15	2492	+			755			Ig-like C2-type 4.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.2263G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	42	9.502391	0.99189	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	19.2309	0.93839	0.0:0.0:1.0:0.0	.	.	.	.	X	755	.	ENSP00000271588:G755X	G	+	1	0	HMCN1	184206140	1.000000	0.71417	0.998000	0.56505	0.794000	0.44872	6.491000	0.73649	2.536000	0.85505	0.655000	0.94253	GGA		0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		84	191	1	0	7.68e-34	1.08e-33	84	191				
PTPN7	5778	broad.mit.edu	37	1	202121728	202121728	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:202121728C>T	ENST00000308986.5	-	8	947	c.817G>A	c.(817-819)Gag>Aag	p.E273K	PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000367279.4_Missense_Mutation_p.E312K|PTPN7_ENST00000544762.1_Missense_Mutation_p.E49K|PTPN7_ENST00000309017.3_Missense_Mutation_p.E378K|PTPN7_ENST00000543735.1_Missense_Mutation_p.E102K			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	273	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						TCCTCCACCTCTGCCACTAGG	0.642																																						uc001gxm.1		NA																	0				skin(1)	1						c.(817-819)GAG>AAG		protein tyrosine phosphatase, non-receptor type							44.0	43.0	44.0					1																	202121728		2203	4300	6503	SO:0001583	missense	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202121728C>T	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.817G>A	1.37:g.202121728C>T	ENSP00000311133:p.Glu273Lys					PTPN7_uc001gxl.1_Missense_Mutation_p.E312K|PTPN7_uc001gxn.1_Missense_Mutation_p.E273K|PTPN7_uc010ppv.1_Missense_Mutation_p.E92K|PTPN7_uc010ppw.1_Missense_Mutation_p.E221K|PTPN7_uc010ppx.1_Missense_Mutation_p.E347K|PTPN7_uc010ppy.1_RNA|PTPN7_uc001gxo.1_Missense_Mutation_p.E225K	p.E273K	NM_002832	NP_002823	P35236	PTN7_HUMAN			8	948	-			273			Tyrosine-protein phosphatase.		B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Missense_Mutation	SNP	ENST00000308986.5	37	c.817G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.896397|4.896397	0.91962|0.91962	.|.	.|.	ENSG00000143851|ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000544762;ENST00000543735;ENST00000477554|ENST00000477625	D;D;D;D;D;D|.	0.82711|.	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);|.	0.106428|.	0.41097|.	D|.	0.000952|.	T|T	0.52041|0.52041	0.1710|0.1710	N|N	0.26162|0.26162	0.8|0.8	0.42176|0.42176	D|D	0.991663|0.991663	D;B;P;P;P|.	0.53151|.	0.958;0.185;0.799;0.634;0.69|.	P;B;P;P;B|.	0.58130|.	0.833;0.25;0.604;0.483;0.388|.	T|T	0.48854|0.48854	-0.8998|-0.8998	10|5	0.52906|.	T|.	0.07|.	.|.	13.3321|13.3321	0.60495|0.60495	0.0:0.9216:0.0:0.0784|0.0:0.9216:0.0:0.0784	.|.	347;221;225;273;312|.	B4DZD9;B4DVF0;Q8NFX3;P35236;P35236-2|.	.;.;.;PTN7_HUMAN;.|.	K|K	312;378;273;49;102;354|204	ENSP00000356248:E312K;ENSP00000309116:E378K;ENSP00000311133:E273K;ENSP00000438272:E49K;ENSP00000444624:E102K;ENSP00000418416:E354K|.	ENSP00000311133:E273K|.	E|R	-|-	1|2	0|0	PTPN7|PTPN7	200388351|200388351	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.858000|0.858000	0.48976|0.48976	4.858000|4.858000	0.62947|0.62947	2.463000|2.463000	0.83235|0.83235	0.563000|0.563000	0.77884|0.77884	GAG|AGA		0.642	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832		16	33	0	0	0	0	16	33				
PLEKHA6	22874	broad.mit.edu	37	1	204236663	204236663	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:204236663C>G	ENST00000272203.3	-	5	536	c.220G>C	c.(220-222)Gtt>Ctt	p.V74L	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.V74L	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	74	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CACTGCTTAACCCCGGAGCTG	0.597																																						uc001hau.2		NA																	0				ovary(3)|pancreas(1)	4						c.(220-222)GTT>CTT		phosphoinositol 3-phosphate-binding protein-3							98.0	78.0	84.0					1																	204236663		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204236663C>G	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.220G>C	1.37:g.204236663C>G	ENSP00000272203:p.Val74Leu						p.V74L	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		5	537	-	all_cancers(21;0.0222)|Breast(84;0.179)		74			PH.		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.220G>C	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392059	0.62066	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.11277	2.79;2.79	5.51	5.51	0.81932	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.057631	0.64402	D	0.000002	T	0.19167	0.0460	N	0.11154	0.105	0.58432	D	0.999994	B	0.31752	0.338	P	0.59056	0.851	T	0.46005	-0.9222	10	0.17832	T	0.49	-23.4653	19.0239	0.92925	0.0:1.0:0.0:0.0	.	74	Q9Y2H5	PKHA6_HUMAN	L	74	ENSP00000272203:V74L;ENSP00000402046:V74L	ENSP00000272203:V74L	V	-	1	0	PLEKHA6	202503286	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	4.569000	0.60865	2.580000	0.87095	0.549000	0.68633	GTT		0.597	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		18	51	0	0	0	0	18	51				
CD34	947	broad.mit.edu	37	1	208062192	208062192	+	Splice_Site	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:208062192C>G	ENST00000310833.7	-	7	1129		c.e7-1		CD34_ENST00000485761.1_Splice_Site|CD34_ENST00000537704.1_Splice_Site|CD34_ENST00000367036.3_Splice_Site|CD34_ENST00000356522.4_Splice_Site	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule						cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GGATCCCCAGCTTGAAAAGAA	0.527																																						uc001hgw.1		NA																	0				ovary(1)	1						c.e7-1		CD34 antigen isoform a							121.0	127.0	125.0					1																	208062192		2203	4300	6503	SO:0001630	splice_region_variant	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208062192C>G	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.808-1G>C	1.37:g.208062192C>G						CD34_uc001hgv.1_Splice_Site_p.L112_splice|CD34_uc001hgx.1_Splice_Site_p.L270_splice|CD34_uc010psj.1_Splice_Site_p.L135_splice	p.L270_splice	NM_001025109	NP_001020280	P28906	CD34_HUMAN			7	1066	-								A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Splice_Site	SNP	ENST00000310833.7	37	c.808_splice	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565647	0.27915	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367036;ENST00000537704;ENST00000367037	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0066	0.58707	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CD34	206128815	1.000000	0.71417	0.999000	0.59377	0.325000	0.28411	3.905000	0.56333	2.524000	0.85096	0.650000	0.86243	.		0.527	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773	Intron	64	128	0	0	0	0	64	128				
USH2A	7399	broad.mit.edu	37	1	215953214	215953214	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:215953214G>A	ENST00000307340.3	-	55	11296	c.10910C>T	c.(10909-10911)aCc>aTc	p.T3637I	USH2A_ENST00000366943.2_Missense_Mutation_p.T3637I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3637	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTGTCAGTGGTGTCAGTGTG	0.498										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(10909-10911)ACC>ATC		usherin isoform B							186.0	151.0	163.0					1																	215953214		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215953214G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10910C>T	1.37:g.215953214G>A	ENSP00000305941:p.Thr3637Ile	HNSCC(13;0.011)					p.T3637I	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	55	11297	-			3637			Extracellular (Potential).|Fibronectin type-III 21.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10910C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761770	0.31228	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58940	0.3;0.3	5.9	2.94	0.34122	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.149585	0.30356	N	0.009810	T	0.45816	0.1361	L	0.51853	1.615	0.20764	N	0.999858	B	0.10296	0.003	B	0.15052	0.012	T	0.26710	-1.0095	10	0.17832	T	0.49	.	8.4183	0.32685	0.1324:0.0:0.7407:0.1269	.	3637	O75445	USH2A_HUMAN	I	3637	ENSP00000305941:T3637I;ENSP00000355910:T3637I	ENSP00000305941:T3637I	T	-	2	0	USH2A	214019837	0.842000	0.29525	0.559000	0.28332	0.998000	0.95712	1.815000	0.38981	0.840000	0.34995	0.650000	0.86243	ACC		0.498	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		52	55	0	0	0	0	52	55				
USH2A	7399	broad.mit.edu	37	1	216040365	216040365	+	Silent	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:216040365C>A	ENST00000307340.3	-	44	9215	c.8829G>T	c.(8827-8829)gtG>gtT	p.V2943V	USH2A_ENST00000366943.2_Silent_p.V2943V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2943	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGCCCACCTCACGTCGATGG	0.448										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(8827-8829)GTG>GTT		usherin isoform B							161.0	133.0	142.0					1																	216040365		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216040365C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8829G>T	1.37:g.216040365C>A		HNSCC(13;0.011)					p.V2943V	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	44	9216	-			2943			Fibronectin type-III 16.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.8829G>T	CCDS31025.1																																																																																				0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		35	57	1	0	1.05e-18	1.4e-18	35	57				
EPRS	2058	broad.mit.edu	37	1	220156625	220156625	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:220156625T>A	ENST00000366923.3	-	22	3475	c.3206A>T	c.(3205-3207)aAg>aTg	p.K1069M		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1069	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	ACCAAGTTTCTTGATCTCAGC	0.423																																						uc001hly.1		NA																	0				ovary(1)|skin(1)	2						c.(3205-3207)AAG>ATG		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						85.0	89.0	87.0					1																	220156625		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220156625T>A	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3206A>T	1.37:g.220156625T>A	ENSP00000355890:p.Lys1069Met						p.K1069M	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	22	3476	-			1069			Prolyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.3206A>T	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	18.85	3.711053	0.68730	.	.	ENSG00000136628	ENST00000366923	T	0.69435	-0.4	5.58	5.58	0.84498	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.093973	0.64402	D	0.000001	D	0.89491	0.6730	H	0.99312	4.51	0.52501	D	0.999956	D	0.76494	0.999	D	0.72075	0.976	D	0.93886	0.7175	10	0.87932	D	0	-21.0678	15.7366	0.77849	0.0:0.0:0.0:1.0	.	1069	P07814	SYEP_HUMAN	M	1069	ENSP00000355890:K1069M	ENSP00000355890:K1069M	K	-	2	0	EPRS	218223248	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.900000	0.56295	2.126000	0.65437	0.460000	0.39030	AAG		0.423	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		53	68	0	0	0	0	53	68				
GALNT2	2590	broad.mit.edu	37	1	230338962	230338962	+	Silent	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:230338962C>G	ENST00000366672.4	+	3	372	c.300C>G	c.(298-300)gcC>gcG	p.A100A	GALNT2_ENST00000543760.1_Silent_p.A62A|GALNT2_ENST00000541865.1_Silent_p.A10A	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	100					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ACCCTTACGCCCGCAACAAGT	0.552																																						uc010pwa.1		NA																	0				ovary(2)	2						c.(298-300)GCC>GCG		polypeptide N-acetylgalactosaminyltransferase 2							125.0	125.0	125.0					1																	230338962		2203	4300	6503	SO:0001819	synonymous_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230338962C>G	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.300C>G	1.37:g.230338962C>G						GALNT2_uc010pvy.1_Silent_p.A62A|GALNT2_uc010pvz.1_RNA	p.A100A	NM_004481	NP_004472	Q10471	GALT2_HUMAN			3	372	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	100			Lumenal (Potential).		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	c.300C>G	CCDS1582.1																																																																																				0.552	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		38	114	0	0	0	0	38	114				
RYR2	6262	broad.mit.edu	37	1	237580388	237580388	+	Silent	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:237580388A>T	ENST00000366574.2	+	11	1130	c.813A>T	c.(811-813)gcA>gcT	p.A271A	RYR2_ENST00000360064.6_Silent_p.A269A|RYR2_ENST00000542537.1_Silent_p.A255A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	271	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGTTCATGCACGTTCCCTTT	0.423																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(811-813)GCA>GCT		cardiac muscle ryanodine receptor							134.0	125.0	128.0					1																	237580388		2019	4190	6209	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237580388A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.813A>T	1.37:g.237580388A>T							p.A271A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		11	933	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	271			Cytoplasmic (By similarity).|MIR 3.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.813A>T	CCDS55691.1																																																																																				0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		22	32	0	0	0	0	22	32				
FMN2	56776	broad.mit.edu	37	1	240256593	240256593	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:240256593C>T	ENST00000319653.9	+	1	1414	c.1184C>T	c.(1183-1185)gCt>gTt	p.A395V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	395					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCGCGGCCGCTTCCCTGCCC	0.726																																						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1183-1185)GCT>GTT		formin 2							20.0	26.0	24.0					1																	240256593		2198	4292	6490	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256593C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1184C>T	1.37:g.240256593C>T	ENSP00000318884:p.Ala395Val					FMN2_uc010pye.1_Missense_Mutation_p.A395V	p.A395V	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1409	+	Ovarian(103;0.127)	all_cancers(173;0.013)	395					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1184C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271954	0.23221	.	.	ENSG00000155816	ENST00000319653	T	0.26660	1.72	4.15	3.21	0.36854	.	0.838999	0.10359	N	0.684202	T	0.15522	0.0374	N	0.19112	0.55	0.19300	N	0.999973	B	0.06786	0.001	B	0.04013	0.001	T	0.23154	-1.0196	10	0.33940	T	0.23	.	6.0863	0.19968	0.0:0.7036:0.1901:0.1063	.	395	Q9NZ56	FMN2_HUMAN	V	395	ENSP00000318884:A395V	ENSP00000318884:A395V	A	+	2	0	FMN2	238323216	0.002000	0.14202	0.877000	0.34402	0.663000	0.39108	0.013000	0.13310	0.908000	0.36671	0.462000	0.41574	GCT		0.726	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		21	17	0	0	0	0	21	17				
RGS7	6000	broad.mit.edu	37	1	240966253	240966253	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:240966253C>T	ENST00000407727.1	-	15	1309	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	RGS7_ENST00000366563.1_Missense_Mutation_p.R437H|RGS7_ENST00000348120.2_Missense_Mutation_p.R384H|RGS7_ENST00000401882.1_Missense_Mutation_p.R384H|RGS7_ENST00000366562.4_Missense_Mutation_p.R437H|RGS7_ENST00000446183.2_Missense_Mutation_p.R353H|RGS7_ENST00000366564.1_Missense_Mutation_p.R437H|RGS7_ENST00000366565.1_Missense_Mutation_p.R437H|RGS7_ENST00000331110.7_Missense_Mutation_p.R411H			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	437	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTTATAAAACGTGGGTATGA	0.343																																						uc001hyv.2		NA																	0				ovary(4)|skin(2)|kidney(1)	7						c.(1309-1311)CGT>CAT		regulator of G-protein signaling 7							140.0	149.0	146.0					1																	240966253		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240966253C>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1310G>A	1.37:g.240966253C>T	ENSP00000384428:p.Arg437His					RGS7_uc010pyh.1_Missense_Mutation_p.R411H|RGS7_uc010pyj.1_Missense_Mutation_p.R353H|RGS7_uc001hyu.2_Missense_Mutation_p.R437H|RGS7_uc009xgn.1_Missense_Mutation_p.R384H|RGS7_uc001hyw.2_Missense_Mutation_p.R437H|RGS7_uc001hyt.2_Missense_Mutation_p.R269H	p.R437H	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		16	1640	-		all_cancers(173;0.0131)	437			RGS.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.1310G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.446591	0.96205	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.02197	4.4;4.4;4.4;4.4;4.4;4.4;4.4;4.4;4.4;4.4	6.04	6.04	0.98038	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.048470	0.85682	D	0.000000	T	0.25717	0.0626	H	0.97635	4.045	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.83275	0.994;0.977;0.977;0.989;0.96;0.996;0.977	T	0.37596	-0.9699	10	0.87932	D	0	.	19.583	0.95478	0.0:1.0:0.0:0.0	.	353;411;384;437;437;437;437	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	H	411;437;437;437;268;384;353;437;437;384	ENSP00000331485:R411H;ENSP00000355523:R437H;ENSP00000355522:R437H;ENSP00000355521:R437H;ENSP00000404399:R268H;ENSP00000341242:R384H;ENSP00000390138:R353H;ENSP00000355520:R437H;ENSP00000384428:R437H;ENSP00000385508:R384H	ENSP00000331485:R411H	R	-	2	0	RGS7	239032876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	CGT		0.343	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		54	80	0	0	0	0	54	80				
RGS7	6000	broad.mit.edu	37	1	240975331	240975331	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:240975331G>T	ENST00000407727.1	-	13	968	c.969C>A	c.(967-969)agC>agA	p.S323R	RGS7_ENST00000366563.1_Missense_Mutation_p.S323R|RGS7_ENST00000348120.2_Missense_Mutation_p.S270R|RGS7_ENST00000401882.1_Missense_Mutation_p.S270R|RGS7_ENST00000366562.4_Missense_Mutation_p.S323R|RGS7_ENST00000446183.2_Missense_Mutation_p.S239R|RGS7_ENST00000366564.1_Missense_Mutation_p.S323R|RGS7_ENST00000366565.1_Missense_Mutation_p.S323R|RGS7_ENST00000331110.7_Missense_Mutation_p.S297R			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	323					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CCCTCTGCTGGCTCGGTTCTT	0.393																																						uc001hyv.2		NA																	0				ovary(4)|skin(2)|kidney(1)	7						c.(967-969)AGC>AGA		regulator of G-protein signaling 7							93.0	96.0	95.0					1																	240975331		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240975331G>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.969C>A	1.37:g.240975331G>T	ENSP00000384428:p.Ser323Arg					RGS7_uc010pyh.1_Missense_Mutation_p.S297R|RGS7_uc010pyj.1_Missense_Mutation_p.S239R|RGS7_uc001hyu.2_Missense_Mutation_p.S323R|RGS7_uc009xgn.1_Missense_Mutation_p.S270R|RGS7_uc001hyw.2_Missense_Mutation_p.S323R|RGS7_uc001hyt.2_Missense_Mutation_p.S155R	p.S323R	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		14	1299	-		all_cancers(173;0.0131)	323					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.969C>A		.	.	.	.	.	.	.	.	.	.	G	14.35	2.509538	0.44660	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.8	-1.38	0.09027	Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.133554	0.64402	D	0.000002	T	0.33527	0.0866	M	0.74881	2.28	0.41978	D	0.990786	P;P;P;P;B;P;B	0.48089	0.859;0.587;0.862;0.805;0.232;0.905;0.388	B;B;P;P;B;B;B	0.46339	0.315;0.218;0.513;0.513;0.276;0.411;0.164	T	0.16748	-1.0392	10	0.49607	T	0.09	-7.2958	1.3233	0.02121	0.3698:0.1015:0.3256:0.2031	.	239;297;270;323;323;323;323	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	R	297;323;323;323;154;270;239;323;323;270	ENSP00000331485:S297R;ENSP00000355523:S323R;ENSP00000355522:S323R;ENSP00000355521:S323R;ENSP00000404399:S154R;ENSP00000341242:S270R;ENSP00000390138:S239R;ENSP00000355520:S323R;ENSP00000384428:S323R;ENSP00000385508:S270R	ENSP00000331485:S297R	S	-	3	2	RGS7	239041954	0.909000	0.30893	0.991000	0.47740	0.794000	0.44872	-0.034000	0.12225	-0.206000	0.10203	0.561000	0.74099	AGC		0.393	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		38	58	1	0	1.5e-21	2.03e-21	38	58				
OR6F1	343169	broad.mit.edu	37	1	247875907	247875907	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:247875907T>G	ENST00000302084.2	-	1	198	c.151A>C	c.(151-153)Acc>Ccc	p.T51P	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGATGGGAGGTGCTCACCAAC	0.473																																						uc001idj.1		NA																	0					0						c.(151-153)ACC>CCC		olfactory receptor, family 6, subfamily F,							134.0	129.0	131.0					1																	247875907		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875907T>G	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.151A>C	1.37:g.247875907T>G	ENSP00000305640:p.Thr51Pro						p.T51P	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	151	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		51			Cytoplasmic (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.151A>C	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	T	6.268	0.417550	0.11870	.	.	ENSG00000169214	ENST00000302084	T	0.09350	2.99	3.99	-2.98	0.05513	GPCR, rhodopsin-like superfamily (1);	0.500458	0.16799	N	0.199067	T	0.08846	0.0219	L	0.57536	1.79	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.21930	-1.0231	10	0.56958	D	0.05	-21.596	4.0234	0.09677	0.26:0.3386:0.0:0.4014	.	51	Q8NGZ6	OR6F1_HUMAN	P	51	ENSP00000305640:T51P	ENSP00000305640:T51P	T	-	1	0	OR6F1	245942530	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.337000	0.07852	-0.728000	0.04882	-0.326000	0.08463	ACC		0.473	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		41	80	0	0	0	0	41	80				
ITIH5	80760	broad.mit.edu	37	10	7708844	7708844	+	Silent	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:7708844C>A	ENST00000256861.6	-	1	90	c.12G>T	c.(10-12)ctG>ctT	p.L4L	ITIH5_ENST00000397145.2_Silent_p.L4L|ITIH5_ENST00000397146.2_Silent_p.L4L|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	4					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ACAGCCCCAGCAGCAGGAGCA	0.731																																						uc001ijq.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(10-12)CTG>CTT		inter-alpha trypsin inhibitor heavy chain							17.0	20.0	19.0					10																	7708844		2197	4295	6492	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7708844C>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.12G>T	10.37:g.7708844C>A						ITIH5_uc001ijr.1_Silent_p.L4L	p.L4L	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			1	91	-			4					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.12G>T																																																																																					0.731	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		5	18	1	0	8.13e-05	8.83e-05	5	18				
GPR158	57512	broad.mit.edu	37	10	25464376	25464376	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:25464376C>T	ENST00000376351.3	+	1	386	c.27C>T	c.(25-27)ctC>ctT	p.L9L	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	9					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACCCCTTACTCCTCTGCCTCC	0.602																																						uc001isj.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(25-27)CTC>CTT		G protein-coupled receptor 158 precursor							34.0	39.0	38.0					10																	25464376		2202	4294	6496	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25464376C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.27C>T	10.37:g.25464376C>T						LOC100128811_uc010qde.1_Intron	p.L9L	NM_020752	NP_065803	Q5T848	GP158_HUMAN			1	87	+			9					Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.27C>T	CCDS31166.1																																																																																				0.602	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		23	29	0	0	0	0	23	29				
GAD2	2572	broad.mit.edu	37	10	26581417	26581417	+	Silent	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:26581417T>C	ENST00000376261.3	+	14	1913	c.1410T>C	c.(1408-1410)caT>caC	p.H470H	GAD2_ENST00000259271.3_Silent_p.H470H	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	470					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGAAGCGCATGTTGATAAAT	0.438																																						uc001isp.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1408-1410)CAT>CAC		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						130.0	119.0	123.0					10																	26581417		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26581417T>C	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1410T>C	10.37:g.26581417T>C						GAD2_uc001isq.2_Silent_p.H470H	p.H470H	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			14	1913	+			470					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.1410T>C	CCDS7149.1																																																																																				0.438	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		12	20	0	0	0	0	12	20				
GDF10	2662	broad.mit.edu	37	10	48428899	48428899	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:48428899C>T	ENST00000224605.2	-	2	1252	c.987G>A	c.(985-987)cgG>cgA	p.R329R		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	329					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GTTTCAGCGCCCGGAAGGGGC	0.682																																						uc001jfb.2		NA																	0				lung(1)|central_nervous_system(1)	2						c.(985-987)CGG>CGA		growth differentiation factor 10 precursor							29.0	29.0	29.0					10																	48428899		2203	4300	6503	SO:0001819	synonymous_variant	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48428899C>T	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.987G>A	10.37:g.48428899C>T						GDF10_uc009xnp.2_Silent_p.R328R|GDF10_uc009xnq.1_Silent_p.R329R	p.R329R	NM_004962	NP_004953	P55107	BMP3B_HUMAN			2	1443	-			329					Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	c.987G>A	CCDS7220.1																																																																																				0.682	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		8	18	0	0	0	0	8	18				
C10orf71	118461	broad.mit.edu	37	10	50531202	50531202	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:50531202C>A	ENST00000374144.3	+	3	900	c.612C>A	c.(610-612)aaC>aaA	p.N204K	C10orf71_ENST00000323868.4_Missense_Mutation_p.N204K			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	204										endometrium(1)	1						AAGTTTCCAACACCCATCAGA	0.532																																						uc010qgp.1		NA																	0					0						c.(610-612)AAC>AAA		hypothetical protein LOC118461 isoform 2							38.0	40.0	39.0					10																	50531202		1998	4155	6153	SO:0001583	missense	118461							g.chr10:50531202C>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.612C>A	10.37:g.50531202C>A	ENSP00000363259:p.Asn204Lys						p.N204K	NM_199459	NP_955629	Q711Q0	CJ071_HUMAN			3	951	+			204					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.612C>A	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	9.264	1.044019	0.19748	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.12984	2.63;3.75	5.26	-1.83	0.07833	.	1.007230	0.07982	N	0.985698	T	0.05364	0.0142	N	0.14661	0.345	0.09310	N	1	B	0.16802	0.019	B	0.15484	0.013	T	0.43015	-0.9417	10	0.09084	T	0.74	.	1.3142	0.02104	0.2071:0.3794:0.1122:0.3013	.	204	Q711Q0-3	.	K	204	ENSP00000318713:N204K;ENSP00000363259:N204K	ENSP00000318713:N204K	N	+	3	2	C10orf71	50201208	0.000000	0.05858	0.002000	0.10522	0.859000	0.49053	-0.588000	0.05774	-0.061000	0.13110	-0.367000	0.07326	AAC		0.532	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		6	17	1	0	0.00198382	0.00209416	6	17				
IPMK	253430	broad.mit.edu	37	10	59956302	59956302	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:59956302C>T	ENST00000373935.3	-	6	1108	c.786G>A	c.(784-786)caG>caA	p.Q262Q		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	262					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TAGTGGTTGGCTGAGATGAAC	0.353																																						uc001jkb.2		NA																	0				ovary(1)	1						c.(784-786)CAG>CAA		inositol polyphosphate multikinase							54.0	55.0	54.0					10																	59956302		2202	4300	6502	SO:0001819	synonymous_variant	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59956302C>T	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.786G>A	10.37:g.59956302C>T							p.Q262Q	NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN			6	1109	-			262						Silent	SNP	ENST00000373935.3	37	c.786G>A	CCDS7250.1																																																																																				0.353	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		13	31	0	0	0	0	13	31				
BICC1	80114	broad.mit.edu	37	10	60560767	60560767	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:60560767C>A	ENST00000373886.3	+	14	1980	c.1976C>A	c.(1975-1977)aCa>aAa	p.T659K	BICC1_ENST00000263103.1_Missense_Mutation_p.T285K	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	659					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AAAAGGCAGACAGTGGAACTA	0.403																																						uc001jki.1		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1975-1977)ACA>AAA		bicaudal C homolog 1							125.0	113.0	117.0					10																	60560767		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60560767C>A	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1976C>A	10.37:g.60560767C>A	ENSP00000362993:p.Thr659Lys					BICC1_uc001jkj.1_Missense_Mutation_p.T300K	p.T659K	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			14	1976	+			659						Missense_Mutation	SNP	ENST00000373886.3	37	c.1976C>A	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325038	0.81580	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.51071	1.47;0.72	6.04	6.04	0.98038	.	0.044997	0.85682	D	0.000000	T	0.58963	0.2159	L	0.53249	1.67	0.53688	D	0.999972	D;P	0.57257	0.979;0.651	P;B	0.51833	0.681;0.165	T	0.59231	-0.7493	10	0.72032	D	0.01	-16.3206	20.5792	0.99380	0.0:1.0:0.0:0.0	.	579;659	E7EU62;Q9H694	.;BICC1_HUMAN	K	659;285	ENSP00000362993:T659K;ENSP00000263103:T285K	ENSP00000263103:T285K	T	+	2	0	BICC1	60230773	1.000000	0.71417	0.997000	0.53966	0.877000	0.50540	7.412000	0.80091	2.873000	0.98535	0.561000	0.74099	ACA		0.403	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		25	46	1	0	4.16e-05	4.58e-05	25	46				
FAM13C	220965	broad.mit.edu	37	10	61012595	61012595	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:61012595G>T	ENST00000373868.2	-	12	1583	c.1496C>A	c.(1495-1497)cCa>cAa	p.P499Q	FAM13C_ENST00000442566.3_Missense_Mutation_p.P520Q|FAM13C_ENST00000419214.2_Missense_Mutation_p.P401Q|FAM13C_ENST00000435852.2_Missense_Mutation_p.P499Q|FAM13C_ENST00000468840.2_Missense_Mutation_p.P416Q|FAM13C_ENST00000277705.6_Missense_Mutation_p.P519Q|FAM13C_ENST00000373867.3_Missense_Mutation_p.P415Q	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	499										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGAGAGAGCTGGTGGTTTTAC	0.448																																						uc001jkn.2		NA																	0				ovary(2)	2						c.(1495-1497)CCA>CAA		hypothetical protein LOC220965 isoform 1							170.0	148.0	156.0					10																	61012595		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61012595G>T	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1496C>A	10.37:g.61012595G>T	ENSP00000362975:p.Pro499Gln					FAM13C_uc001jko.2_Missense_Mutation_p.P401Q|FAM13C_uc010qid.1_Missense_Mutation_p.P415Q|FAM13C_uc010qie.1_Missense_Mutation_p.P416Q|FAM13C_uc010qif.1_Missense_Mutation_p.P521Q	p.P499Q	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			13	1630	-			499					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.1496C>A	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483780	0.26598	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852	T;T;T;T;T	0.41065	1.04;1.04;1.01;1.07;1.07	5.72	4.82	0.62117	.	0.330706	0.29444	N	0.012125	T	0.51839	0.1698	L	0.60455	1.87	0.28661	N	0.906111	D;B;P;P	0.60160	0.987;0.088;0.731;0.942	D;B;P;P	0.63793	0.918;0.102;0.447;0.82	T	0.49360	-0.8948	10	0.02654	T	1	-1.7299	13.5562	0.61761	0.0723:0.0:0.9277:0.0	.	499;415;401;499	B7Z2K3;B7ZB77;Q8NE31-3;Q8NE31	.;.;.;FA13C_HUMAN	Q	415;499;520;519;401;416;499	ENSP00000362975:P499Q;ENSP00000395661:P520Q;ENSP00000277705:P519Q;ENSP00000391993:P401Q;ENSP00000392302:P499Q	ENSP00000277705:P519Q	P	-	2	0	FAM13C	60682601	1.000000	0.71417	0.979000	0.43373	0.996000	0.88848	5.878000	0.69682	1.561000	0.49584	0.655000	0.94253	CCA		0.448	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			30	50	1	0	1.07e-11	1.32e-11	30	50				
PANK1	53354	broad.mit.edu	37	10	91404850	91404850	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:91404850C>T	ENST00000307534.4	-	1	365	c.210G>A	c.(208-210)gcG>gcA	p.A70A	PANK1_ENST00000342512.3_5'Flank|RP11-80H5.2_ENST00000451733.1_RNA|PANK1_ENST00000371774.2_5'Flank|RP11-80H5.6_ENST00000428166.1_lincRNA|RP11-80H5.2_ENST00000454174.1_RNA|PANK1_ENST00000488482.1_5'Flank|PANK1_ENST00000322191.6_5'Flank	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	70					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						gccccccgcgcgccggcccca	0.801																																						uc001kgp.1		NA																	0					0						c.(208-210)GCG>GCA		pantothenate kinase 1 isoform alpha	Bezafibrate(DB01393)						3.0	4.0	4.0					10																	91404850		1358	3111	4469	SO:0001819	synonymous_variant	53354				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	g.chr10:91404850C>T	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.210G>A	10.37:g.91404850C>T						PANK1_uc001kgn.1_5'Flank|PANK1_uc001kgo.1_5'Flank|PANK1_uc009xtu.1_5'Flank	p.A70A	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN			1	366	-			70					A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Silent	SNP	ENST00000307534.4	37	c.210G>A	CCDS31244.1																																																																																				0.801	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				3	2	0	0	0	0	3	2				
ZNF518A	9849	broad.mit.edu	37	10	97917430	97917430	+	RNA	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:97917430G>A	ENST00000534948.1	+	0	2208							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CAAGATGATGGATGGAAAACA	0.373																																						uc001klp.2		NA																	0				ovary(1)	1						c.(1351-1353)GAT>AAT		zinc finger protein 518							90.0	89.0	89.0					10																	97917430		1878	4112	5990			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97917430G>A	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97917430G>A						ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.2_Missense_Mutation_p.D451N|ZNF518A_uc001klr.2_Missense_Mutation_p.D451N	p.D451N	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	6	2208	+		Colorectal(252;0.0815)	451					A0PJI5|O15044|Q32MP4	Missense_Mutation	SNP	ENST00000534948.1	37	c.1351G>A																																																																																					0.373	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		24	80	0	0	0	0	24	80				
ZFYVE27	118813	broad.mit.edu	37	10	99512906	99512906	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:99512906C>T	ENST00000393677.4	+	10	1213	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	ZFYVE27_ENST00000359980.3_Missense_Mutation_p.R330W|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.R212W|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.R342W|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.R237W|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.R330W|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.R244W|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.R298W	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	337					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		GCTCACGGAGCGGCTCCGCAA	0.672																																						uc001koo.2		NA																	0				ovary(1)	1						c.(1009-1011)CGG>TGG		zinc finger, FYVE domain containing 27 isoform							31.0	25.0	27.0					10																	99512906		2203	4300	6503	SO:0001583	missense	118813				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	g.chr10:99512906C>T	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.1009C>T	10.37:g.99512906C>T	ENSP00000377282:p.Arg337Trp					ZFYVE27_uc001kon.2_Missense_Mutation_p.R342W|ZFYVE27_uc001koq.2_Missense_Mutation_p.R244W|ZFYVE27_uc010qpa.1_Missense_Mutation_p.R212W|ZFYVE27_uc001kop.2_Missense_Mutation_p.R330W|ZFYVE27_uc010qpb.1_Missense_Mutation_p.R237W|ZFYVE27_uc010qpc.1_RNA|ZFYVE27_uc010qpd.1_Missense_Mutation_p.R298W|ZFYVE27_uc001kok.1_RNA|ZFYVE27_uc001kol.1_Missense_Mutation_p.R337W|ZFYVE27_uc001kom.1_Missense_Mutation_p.R330W	p.R337W	NM_144588	NP_653189	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	10	1209	+		Colorectal(252;0.0846)	337			Extracellular (Potential).		B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	ENST00000393677.4	37	c.1009C>T	CCDS31263.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210688	0.79240	.	.	ENSG00000155256	ENST00000337540;ENST00000357540;ENST00000370613;ENST00000370610;ENST00000393677;ENST00000453958;ENST00000359980;ENST00000356257;ENST00000423811	T;T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;1.16;-1.08;-1.08;-1.08	5.75	3.66	0.41972	Zinc finger, FYVE/PHD-type (1);	0.114545	0.64402	D	0.000017	T	0.79034	0.4378	N	0.19112	0.55	0.40726	D	0.982705	D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.998;1.0;0.999;0.999	P;P;D;P;D;D;P	0.67231	0.852;0.852;0.937;0.854;0.95;0.929;0.893	T	0.83320	-0.0018	10	0.87932	D	0	-24.3261	15.2107	0.73222	0.3535:0.6465:0.0:0.0	.	298;237;212;244;342;330;337	B7Z404;B7Z3S0;B7Z626;Q5T4F4-5;Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;.;.;.;.;ZFY27_HUMAN	W	298;244;212;237;337;330;330;342;320	ENSP00000337993:R298W;ENSP00000350148:R244W;ENSP00000359646:R212W;ENSP00000359642:R237W;ENSP00000377282:R337W;ENSP00000401580:R330W;ENSP00000353069:R330W;ENSP00000348593:R342W;ENSP00000409594:R320W	ENSP00000337993:R298W	R	+	1	2	ZFYVE27	99502896	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.657000	0.54474	1.380000	0.46344	0.561000	0.74099	CGG		0.672	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		4	9	0	0	0	0	4	9				
CUTC	51076	broad.mit.edu	37	10	101510142	101510142	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:101510142T>C	ENST00000370476.5	+	7	719	c.590T>C	c.(589-591)gTg>gCg	p.V197A		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	197					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GGCAGGATTGTGGTAATGCCA	0.338																																						uc001kqd.3		NA																	0				breast(1)	1						c.(589-591)GTG>GCG		cutC copper transporter homolog							85.0	80.0	82.0					10																	101510142		2203	4297	6500	SO:0001583	missense	51076				copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	g.chr10:101510142T>C	AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"""cutC copper transporter homolog (E. coli)"""			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.590T>C	10.37:g.101510142T>C	ENSP00000359507:p.Val197Ala					CUTC_uc001kqe.3_Intron	p.V197A	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN		Epithelial(162;3e-10)|all cancers(201;2.37e-08)	7	738	+		Colorectal(252;0.234)	197					Q5TCZ8|Q9Y321	Missense_Mutation	SNP	ENST00000370476.5	37	c.590T>C	CCDS7483.1	.	.	.	.	.	.	.	.	.	.	T	10.49	1.364340	0.24684	.	.	ENSG00000119929	ENST00000370476;ENST00000370472	.	.	.	4.24	4.24	0.50183	Copper homeostasis CutC domain (2);	0.548855	0.20535	N	0.090428	T	0.42494	0.1205	L	0.28344	0.845	0.44098	D	0.996865	B	0.11235	0.004	B	0.20767	0.031	T	0.24261	-1.0165	9	0.09843	T	0.71	-8.2818	13.8046	0.63223	0.0:0.0:0.0:1.0	.	197	Q9NTM9	CUTC_HUMAN	A	197;134	.	ENSP00000359503:V134A	V	+	2	0	CUTC	101500132	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.751000	0.47508	1.906000	0.55180	0.379000	0.24179	GTG		0.338	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1	NM_015960		20	41	0	0	0	0	20	41				
NRAP	4892	broad.mit.edu	37	10	115392938	115392938	+	Missense_Mutation	SNP	G	G	A	rs183719002		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:115392938G>A	ENST00000359988.3	-	16	1781	c.1537C>T	c.(1537-1539)Cgt>Tgt	p.R513C	NRAP_ENST00000369358.4_Missense_Mutation_p.R513C|NRAP_ENST00000360478.3_Missense_Mutation_p.R478C|NRAP_ENST00000369360.3_Missense_Mutation_p.R478C	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TAGTCAGCACGGTAATTCACC	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		18786	0.0		0.001	False		,,,				2504	0.0					uc001laj.2		NA																	0				ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(1537-1539)CGT>TGT		nebulin-related anchoring protein isoform S							107.0	92.0	97.0					10																	115392938		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115392938G>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1537C>T	10.37:g.115392938G>A	ENSP00000353078:p.Arg513Cys					NRAP_uc001lak.2_Missense_Mutation_p.R478C|NRAP_uc001lal.3_Missense_Mutation_p.R513C	p.R513C	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	16	1701	-		Colorectal(252;0.0233)|Breast(234;0.188)	513			Nebulin 11.			Missense_Mutation	SNP	ENST00000359988.3	37	c.1537C>T	CCDS7579.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	22.3	4.267110	0.80469	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.67	5.67	0.87782	.	0.113777	0.64402	D	0.000011	T	0.72819	0.3508	M	0.68317	2.08	0.51233	D	0.999911	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.969;0.982	T	0.74429	-0.3668	10	0.87932	D	0	.	19.7784	0.96405	0.0:0.0:1.0:0.0	.	513;478;513	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	C	513;478;513;478;242;242	ENSP00000358365:R513C;ENSP00000358367:R478C;ENSP00000353078:R513C;ENSP00000353666:R478C	ENSP00000353078:R513C	R	-	1	0	NRAP	115382928	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.079000	0.57613	2.673000	0.90976	0.557000	0.71058	CGT		0.418	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		15	42	0	0	0	0	15	42				
ATRNL1	26033	broad.mit.edu	37	10	117026300	117026300	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:117026300C>A	ENST00000355044.3	+	12	1925	c.1799C>A	c.(1798-1800)tCt>tAt	p.S600Y		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	600					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GGGGGATTTTCTAGTGTACTC	0.318																																						uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(1798-1800)TCT>TAT		attractin-like 1 precursor							71.0	78.0	76.0					10																	117026300		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117026300C>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1799C>A	10.37:g.117026300C>A	ENSP00000347152:p.Ser600Tyr						p.S600Y	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	12	2185	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	600			Kelch 6.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.1799C>A	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500362	0.85176	.	.	ENSG00000107518	ENST00000355044	T	0.33865	1.39	5.77	5.77	0.91146	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.60932	0.2307	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.60895	-0.7172	10	0.72032	D	0.01	-24.9759	19.9828	0.97334	0.0:1.0:0.0:0.0	.	600	Q5VV63	ATRN1_HUMAN	Y	600	ENSP00000347152:S600Y	ENSP00000347152:S600Y	S	+	2	0	ATRNL1	117016290	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.293000	0.78740	2.718000	0.92993	0.460000	0.39030	TCT		0.318	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		35	57	1	0	1.6e-16	2.1e-16	35	57				
DPYSL4	10570	broad.mit.edu	37	10	134008362	134008362	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:134008362C>T	ENST00000338492.4	+	4	491	c.327C>T	c.(325-327)ttC>ttT	p.F109F	DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_Silent_p.F32F|DPYSL4_ENST00000368629.1_Silent_p.F32F	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	109					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ACCACGTCTTCCCCGACACGG	0.647																																						uc009ybb.2		NA																	0				central_nervous_system(2)	2						c.(325-327)TTC>TTT		dihydropyrimidinase-like 4							78.0	71.0	74.0					10																	134008362		2203	4298	6501	SO:0001819	synonymous_variant	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134008362C>T	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.327C>T	10.37:g.134008362C>T							p.F109F	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	4	481	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	109					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Silent	SNP	ENST00000338492.4	37	c.327C>T	CCDS7665.1																																																																																				0.647	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			18	49	0	0	0	0	18	49				
STK32C	282974	broad.mit.edu	37	10	134041490	134041490	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:134041490A>G	ENST00000368622.1	-	3	491	c.110T>C	c.(109-111)gTg>gCg	p.V37A	STK32C_ENST00000368625.4_Missense_Mutation_p.V167A					serine/threonine kinase 32C											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CCAGAGGTTCACCAGGAAGAC	0.592																																						uc001lle.1		NA																	0				large_intestine(2)|lung(2)|breast(1)	5						c.(460-462)GTG>GCG		serine/threonine kinase 32C							112.0	79.0	90.0					10																	134041490		2203	4300	6503	SO:0001583	missense	282974						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr10:134041490A>G	AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.110T>C	10.37:g.134041490A>G	ENSP00000357611:p.Val37Ala					STK32C_uc001lld.1_Missense_Mutation_p.V37A|STK32C_uc010quu.1_Missense_Mutation_p.V167A|STK32C_uc009ybc.1_Missense_Mutation_p.V37A|STK32C_uc009ybd.1_Missense_Mutation_p.V37A|STK32C_uc001llb.2_5'UTR|STK32C_uc001llc.1_RNA	p.V154A	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)	3	601	-		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)	154			Protein kinase.			Missense_Mutation	SNP	ENST00000368622.1	37	c.461T>C		.	.	.	.	.	.	.	.	.	.	A	27.3	4.819378	0.90873	.	.	ENSG00000165752	ENST00000368622;ENST00000298630;ENST00000368625	T;T;T	0.38401	1.14;1.14;1.14	4.52	4.52	0.55395	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	0.53938	U	0.000051	T	0.58666	0.2138	M	0.69523	2.12	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.975	D;D;D	0.85130	0.987;0.997;0.954	T	0.64032	-0.6502	10	0.87932	D	0	.	13.9862	0.64337	1.0:0.0:0.0:0.0	.	167;93;154	B7Z7J1;F2Z300;Q86UX6	.;.;ST32C_HUMAN	A	37;154;167	ENSP00000357611:V37A;ENSP00000298630:V154A;ENSP00000357614:V167A	ENSP00000298630:V154A	V	-	2	0	STK32C	133891480	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.469000	0.90395	1.889000	0.54706	0.460000	0.39030	GTG		0.592	STK32C-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051068.2	NM_173575		7	9	0	0	0	0	7	9				
ADAM8	101	broad.mit.edu	37	10	135084731	135084731	+	Silent	SNP	C	C	T	rs373848180		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:135084731C>T	ENST00000445355.3	-	13	1397	c.1347G>A	c.(1345-1347)gcG>gcA	p.A449A	ADAM8_ENST00000415217.3_Silent_p.A449A|ADAM8_ENST00000559180.1_5'Flank|ADAM8_ENST00000485491.2_Silent_p.A410A	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	449	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)	p.A449A(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		AGGTACCGTGCGCACACTGGG	0.687													c|||	1	0.000199681	0.0	0.0	5008	,	,		17207	0.0		0.001	False		,,,				2504	0.0					uc010qva.1		NA																	1	Substitution - coding silent(1)		endometrium(1)	large_intestine(2)|central_nervous_system(1)	3						c.(1228-1230)GCG>GCA		SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);							30.0	29.0	29.0					10																	135084731		2192	4295	6487	SO:0001819	synonymous_variant	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135084731C>T	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.1347G>A	10.37:g.135084731C>T						ADAM8_uc010quz.1_Silent_p.A449A|ADAM8_uc009ybi.2_Silent_p.A449A	p.A410A			P78325	ADAM8_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	12	1281	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	410					B4DVM6|H0YL36|H0YLR0|H0YN39	Silent	SNP	ENST00000445355.3	37	c.1230G>A	CCDS31319.2																																																																																				0.687	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		4	9	0	0	0	0	4	9				
MUC5AC	4586	broad.mit.edu	37	11	1162107	1162107	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:1162107G>A	ENST00000356191.2	+	19	1689	c.1689G>A	c.(1687-1689)caG>caA	p.Q563Q				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	566	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		TCCGTGGGCAGACCTGCGGTA	0.657																																						uc009ycr.1		NA																	0					0						c.(1696-1698)CAG>CAA		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							23.0	22.0	23.0					11																	1162107		869	1986	2855	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1162107G>A	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.1689G>A	11.37:g.1162107G>A							p.Q566Q	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	15	1824	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	557			VWFD 2.		O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Silent	SNP	ENST00000356191.2	37	c.1698G>A																																																																																					0.657	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		3	5	0	0	0	0	3	5				
CD81	975	broad.mit.edu	37	11	2411680	2411680	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:2411680C>T	ENST00000263645.5	+	2	361	c.105C>T	c.(103-105)ctC>ctT	p.L35L	CD81_ENST00000524805.1_3'UTR|CD81_ENST00000381036.3_Silent_p.L73L|CD81_ENST00000526072.1_5'UTR|CD81_ENST00000492627.1_5'UTR	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	35					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of 1-phosphatidylinositol 4-kinase activity (GO:0043128)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization (GO:0008104)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of immune response (GO:0050776)|viral entry into host cell (GO:0046718)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	MHC class II protein complex binding (GO:0023026)			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCCTGTGGCTCCGCCATGACC	0.622																																						uc001lwf.1		NA																	0					0						c.(103-105)CTC>CTT		CD81 antigen							108.0	100.0	103.0					11																	2411680		2201	4298	6499	SO:0001819	synonymous_variant	975				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding	g.chr11:2411680C>T		CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651		"""CD molecules"", ""Tetraspanins"""	1701	protein-coding gene	gene with protein product		186845	"""CD81 antigen (target of antiproliferative antibody 1)"""	TAPA1		1650385	Standard	XM_005253260		Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.105C>T	11.37:g.2411680C>T						CD81_uc001lwg.1_Silent_p.L28L	p.L35L	NM_004356	NP_004347	P60033	CD81_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)	2	338	+		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)	35			Extracellular (Potential).		P18582|Q5U0J6	Silent	SNP	ENST00000263645.5	37	c.105C>T	CCDS7734.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615058	0.28712	.	.	ENSG00000110651	ENST00000464784	.	.	.	4.01	-3.78	0.04333	.	.	.	.	.	T	0.51363	0.1670	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47861	-0.9084	4	.	.	.	.	8.4689	0.32973	0.0:0.1895:0.5491:0.2614	.	.	.	.	F	20	.	.	S	+	2	0	CD81	2368256	0.297000	0.24408	0.959000	0.39883	0.967000	0.64934	-0.473000	0.06615	-0.915000	0.03823	0.462000	0.41574	TCC		0.622	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027357.4	NM_004356		24	36	0	0	0	0	24	36				
DENND5A	23258	broad.mit.edu	37	11	9182329	9182329	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:9182329C>T	ENST00000328194.3	-	12	2687	c.2367G>A	c.(2365-2367)gaG>gaA	p.E789E	DENND5A_ENST00000527700.1_Silent_p.E132E|DENND5A_ENST00000530044.1_Silent_p.E789E	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	789	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCAGGGTGTTCTCTTCCACCC	0.512																																						uc001mhl.2		NA																	0				liver(1)	1						c.(2365-2367)GAG>GAA		RAB6 interacting protein 1							215.0	169.0	185.0					11																	9182329		2201	4296	6497	SO:0001819	synonymous_variant	23258							g.chr11:9182329C>T	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2367G>A	11.37:g.9182329C>T						DENND5A_uc001mhk.2_Silent_p.E132E|DENND5A_uc010rbw.1_Silent_p.E789E|DENND5A_uc010rbx.1_RNA	p.E789E	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN			12	2622	-			789			RUN 1.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	ENST00000328194.3	37	c.2367G>A	CCDS31423.1																																																																																				0.512	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		29	55	0	0	0	0	29	55				
ANO3	63982	broad.mit.edu	37	11	26529699	26529699	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:26529699A>T	ENST00000256737.3	+	5	1333	c.481A>T	c.(481-483)Aaa>Taa	p.K161*	ANO3_ENST00000537978.1_Nonsense_Mutation_p.K145*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.K145*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.K15*|ANO3_ENST00000531646.1_Nonsense_Mutation_p.K161*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	161					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAAAGATGGCAAAAAGAGAAT	0.338																																						uc001mqt.3		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(481-483)AAA>TAA		transmembrane protein 16C							82.0	77.0	79.0					11																	26529699		2203	4300	6503	SO:0001587	stop_gained	63982					chloride channel complex	chloride channel activity	g.chr11:26529699A>T	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.481A>T	11.37:g.26529699A>T	ENSP00000256737:p.Lys161*					ANO3_uc010rdr.1_Nonsense_Mutation_p.K145*|ANO3_uc010rds.1_Nonsense_Mutation_p.K15*|ANO3_uc010rdt.1_Nonsense_Mutation_p.K15*	p.K161*	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			5	626	+			161			Cytoplasmic (Potential).		B7Z3F5	Nonsense_Mutation	SNP	ENST00000256737.3	37	c.481A>T	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	A	36	5.948223	0.97134	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646;ENST00000538001;ENST00000531568	.	.	.	5.58	5.58	0.84498	.	0.049339	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0092	0.71536	1.0:0.0:0.0:0.0	.	.	.	.	X	145;145;161;161;78;15	.	ENSP00000256737:K161X	K	+	1	0	ANO3	26486275	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.470000	0.90399	2.244000	0.73946	0.477000	0.44152	AAA		0.338	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		8	32	0	0	0	0	8	32				
MTCH2	23788	broad.mit.edu	37	11	47653242	47653242	+	Missense_Mutation	SNP	G	G	C	rs376348955		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:47653242G>C	ENST00000302503.3	-	6	548	c.391C>G	c.(391-393)Cgt>Ggt	p.R131G	MTCH2_ENST00000542981.1_Intron|MTCH2_ENST00000534074.1_5'Flank	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	131					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GCAGCAGAACGAGCGATCATC	0.423																																						uc010rho.1		NA																	0					0						c.(391-393)CGT>GGT		mitochondrial carrier 2							170.0	137.0	148.0					11																	47653242		2201	4298	6499	SO:0001583	missense	23788				transport	integral to membrane|mitochondrial inner membrane		g.chr11:47653242G>C	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"""Solute carriers"""	17587	protein-coding gene	gene with protein product	"""solute carrier family 25, member 50"""	613221	"""mitochondrial carrier homolog 2 (C. elegans)"""				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.391C>G	11.37:g.47653242G>C	ENSP00000303222:p.Arg131Gly					MTCH2_uc001nge.2_Missense_Mutation_p.R4G|MTCH2_uc010rhp.1_Intron	p.R131G	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN			6	580	-			131			Solcar 2.		B2R7L8	Missense_Mutation	SNP	ENST00000302503.3	37	c.391C>G	CCDS7943.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898140	0.91962	.	.	ENSG00000109919	ENST00000302503;ENST00000530428;ENST00000530558	T;T	0.70516	-0.49;-0.49	5.71	5.71	0.89125	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	N	0.03967	-0.31	0.80722	D	1	P	0.44309	0.832	B	0.44085	0.44	T	0.55496	-0.8132	10	0.15499	T	0.54	.	18.6391	0.91389	0.0:0.0:1.0:0.0	.	131	Q9Y6C9	MTCH2_HUMAN	G	131;122;110	ENSP00000303222:R131G;ENSP00000432043:R122G	ENSP00000303222:R131G	R	-	1	0	MTCH2	47609818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.913000	0.87471	2.709000	0.92574	0.655000	0.94253	CGT		0.423	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342		16	45	0	0	0	0	16	45				
OR5D14	219436	broad.mit.edu	37	11	55563127	55563127	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:55563127G>A	ENST00000335605.1	+	1	96	c.96G>A	c.(94-96)gtG>gtA	p.V32V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TCTTCCTTGTGTTTCTGCTCA	0.388																																						uc010rim.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(94-96)GTG>GTA		olfactory receptor, family 5, subfamily D,							160.0	148.0	152.0					11																	55563127		2200	4296	6496	SO:0001819	synonymous_variant	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563127G>A	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.96G>A	11.37:g.55563127G>A							p.V32V	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	96	+		all_epithelial(135;0.196)	32			Helical; Name=1; (Potential).		Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	ENST00000335605.1	37	c.96G>A	CCDS31508.1																																																																																				0.388	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		15	76	0	0	0	0	15	76				
OR8H2	390151	broad.mit.edu	37	11	55872956	55872956	+	Silent	SNP	T	T	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:55872956T>G	ENST00000313503.1	+	1	438	c.438T>G	c.(436-438)acT>acG	p.T146T		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTCTCATCACTGGGCCTTATG	0.453										HNSCC(53;0.14)																												uc010riy.1		NA																	0				ovary(1)|skin(1)	2						c.(436-438)ACT>ACG		olfactory receptor, family 8, subfamily H,							216.0	195.0	202.0					11																	55872956		2201	4296	6497	SO:0001819	synonymous_variant	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872956T>G	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.438T>G	11.37:g.55872956T>G		HNSCC(53;0.14)					p.T146T	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	438	+	Esophageal squamous(21;0.00693)		146			Helical; Name=4; (Potential).		Q6IFC1	Silent	SNP	ENST00000313503.1	37	c.438T>G	CCDS31518.1																																																																																				0.453	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		66	100	0	0	0	0	66	100				
OR8H2	390151	broad.mit.edu	37	11	55873223	55873223	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:55873223G>C	ENST00000313503.1	+	1	705	c.705G>C	c.(703-705)caG>caC	p.Q235H		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q235Q(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CAGGAAAGCAGAAAGCTTTCT	0.383										HNSCC(53;0.14)																												uc010riy.1		NA																	1	Substitution - coding silent(1)		breast(1)	ovary(1)|skin(1)	2						c.(703-705)CAG>CAC		olfactory receptor, family 8, subfamily H,							111.0	108.0	109.0					11																	55873223		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873223G>C	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.705G>C	11.37:g.55873223G>C	ENSP00000323982:p.Gln235His	HNSCC(53;0.14)					p.Q235H	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	705	+	Esophageal squamous(21;0.00693)		235			Cytoplasmic (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.705G>C	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	0.394	-0.922148	0.02396	.	.	ENSG00000181767	ENST00000313503	T	0.00028	8.92	3.58	-7.16	0.01516	GPCR, rhodopsin-like superfamily (1);	1.116660	0.06758	N	0.781309	T	0.00073	0.0002	N	0.11845	0.185	0.09310	N	0.999999	B	0.14012	0.009	B	0.18561	0.022	T	0.07597	-1.0764	10	0.16420	T	0.52	.	6.0638	0.19852	0.1321:0.363:0.4272:0.0776	.	235	Q8N162	OR8H2_HUMAN	H	235	ENSP00000323982:Q235H	ENSP00000323982:Q235H	Q	+	3	2	OR8H2	55629799	0.000000	0.05858	0.000000	0.03702	0.616000	0.37450	-2.124000	0.01318	-2.628000	0.00436	0.440000	0.28878	CAG		0.383	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		39	43	0	0	0	0	39	43				
GLYATL2	219970	broad.mit.edu	37	11	58604861	58604861	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:58604861C>T	ENST00000287275.1	-	4	586	c.196G>A	c.(196-198)Gat>Aat	p.D66N	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.D66N	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	66						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TCCTGGTCATCTTTCATCTCC	0.363																																						uc001nnd.3		NA																	0				ovary(1)|skin(1)	2						c.(196-198)GAT>AAT		glycine-N-acyltransferase-like 2	Glycine(DB00145)						175.0	163.0	167.0					11																	58604861		1854	4100	5954	SO:0001583	missense	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58604861C>T	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.196G>A	11.37:g.58604861C>T	ENSP00000287275:p.Asp66Asn					GLYATL2_uc009ymq.2_Missense_Mutation_p.D66N	p.D66N	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN			4	327	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	66					A5LGC7|Q86WC3|Q96AT2	Missense_Mutation	SNP	ENST00000287275.1	37	c.196G>A	CCDS41649.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911031	0.33721	.	.	ENSG00000156689	ENST00000287275;ENST00000532258	T;T	0.28255	1.62;1.62	4.24	3.32	0.38043	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	0.571723	0.15224	N	0.273785	T	0.34106	0.0886	M	0.75085	2.285	0.20403	N	0.999903	B	0.29716	0.255	B	0.32980	0.156	T	0.24584	-1.0156	10	0.42905	T	0.14	.	8.1376	0.31064	0.0:0.8846:0.0:0.1154	.	66	Q8WU03	GLYL2_HUMAN	N	66	ENSP00000287275:D66N;ENSP00000434277:D66N	ENSP00000287275:D66N	D	-	1	0	GLYATL2	58361437	0.450000	0.25697	0.487000	0.27428	0.809000	0.45718	0.729000	0.26028	0.804000	0.34136	0.644000	0.83932	GAT		0.363	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		8	64	0	0	0	0	8	64				
OR4D11	219986	broad.mit.edu	37	11	59271125	59271125	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:59271125T>A	ENST00000313253.1	+	1	77	c.77T>A	c.(76-78)gTc>gAc	p.V26D		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CAGAGTTTGGTCTTGTTTCTT	0.433																																						uc001noa.1		NA																	0				ovary(1)|skin(1)	2						c.(76-78)GTC>GAC		olfactory receptor, family 4, subfamily D,							92.0	86.0	88.0					11																	59271125		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271125T>A	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.77T>A	11.37:g.59271125T>A	ENSP00000320077:p.Val26Asp						p.V26D	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	77	+			26			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000313253.1	37	c.77T>A	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.850024	0.32699	.	.	ENSG00000176200	ENST00000313253	T	0.00451	7.35	5.45	5.45	0.79879	.	0.491379	0.16943	N	0.193201	T	0.00845	0.0028	M	0.83774	2.66	0.47698	D	0.999493	B	0.31968	0.349	P	0.45946	0.498	T	0.58797	-0.7573	10	0.87932	D	0	-11.3383	8.9513	0.35790	0.0:0.0837:0.0:0.9163	.	26	Q8NGI4	OR4DB_HUMAN	D	26	ENSP00000320077:V26D	ENSP00000320077:V26D	V	+	2	0	OR4D11	59027701	0.995000	0.38212	0.940000	0.37924	0.094000	0.18550	3.851000	0.55926	2.069000	0.61940	0.460000	0.39030	GTC		0.433	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		25	72	0	0	0	0	25	72				
METTL12	751071	broad.mit.edu	37	11	62434253	62434253	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:62434253G>A	ENST00000532971.1	+	3	710	c.453G>A	c.(451-453)gtG>gtA	p.V151V	C11orf48_ENST00000354588.3_Intron|RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000524958.1_5'Flank|C11orf48_ENST00000532208.1_Intron|SNORA57_ENST00000383870.1_RNA|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000525675.1_5'Flank|C11orf48_ENST00000431002.2_Intron	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12	151						mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						TGGGGGCTGTGGCTTCTTCAG	0.592																																						uc001nug.1		NA																	0					0						c.(451-453)GTG>GTA		methyltransferase like 12 precursor							50.0	53.0	52.0					11																	62434253		1977	4170	6147	SO:0001819	synonymous_variant	751071					mitochondrion	methyltransferase activity	g.chr11:62434253G>A	BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.453G>A	11.37:g.62434253G>A						C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_3'UTR|METTL12_uc010rmc.1_RNA	p.V151V	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN			3	712	+			151					B7Z4C1	Silent	SNP	ENST00000532971.1	37	c.453G>A	CCDS41657.1																																																																																				0.592	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394990.1	NM_001043229		14	51	0	0	0	0	14	51				
SLC22A12	116085	broad.mit.edu	37	11	64359366	64359366	+	Missense_Mutation	SNP	C	C	G	rs542473712	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:64359366C>G	ENST00000377574.1	+	1	1085	c.338C>G	c.(337-339)aCg>aGg	p.T113R	SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Missense_Mutation_p.T113R|SLC22A12_ENST00000377572.1_Missense_Mutation_p.T113R|SLC22A12_ENST00000377567.2_Missense_Mutation_p.T113R	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	113					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	GAGGCCGACACGGAGCCGTGT	0.672																																						uc001oam.1		NA																	0				ovary(1)	1						c.(337-339)ACG>AGG		urate anion exchanger 1 isoform a							32.0	35.0	34.0					11																	64359366		2201	4297	6498	SO:0001583	missense	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64359366C>G	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.338C>G	11.37:g.64359366C>G	ENSP00000366797:p.Thr113Arg					SLC22A12_uc009ypr.1_Missense_Mutation_p.T113R|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.T113R|SLC22A12_uc001oan.1_Missense_Mutation_p.T113R|SLC22A12_uc009ypt.2_5'Flank	p.T113R	NM_144585	NP_653186	Q96S37	S22AC_HUMAN			1	1085	+			113					B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	c.338C>G	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	C	8.340	0.828529	0.16749	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000336464	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	4.4	3.49	0.39957	Major facilitator superfamily domain (1);	0.267288	0.34245	N	0.004127	T	0.19644	0.0472	M	0.76727	2.345	0.09310	N	1	P;P;P;P	0.49090	0.501;0.919;0.562;0.919	B;B;B;B	0.39805	0.138;0.31;0.304;0.31	T	0.15206	-1.0445	10	0.51188	T	0.08	.	9.8551	0.41082	0.0:0.897:0.0:0.103	.	113;113;113;113	B5ME56;B3KV05;Q96S37-2;Q96S37	.;.;.;S22AC_HUMAN	R	113	ENSP00000366790:T113R;ENSP00000366797:T113R;ENSP00000366795:T113R;ENSP00000336836:T113R	ENSP00000336836:T113R	T	+	2	0	SLC22A12	64115942	0.994000	0.37717	0.061000	0.19648	0.100000	0.18952	4.021000	0.57196	0.833000	0.34828	0.484000	0.47621	ACG		0.672	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		9	26	0	0	0	0	9	26				
SNX15	29907	broad.mit.edu	37	11	64795103	64795103	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:64795103G>C	ENST00000377244.3	+	1	224	c.94G>C	c.(94-96)Gcg>Ccg	p.A32P	SNX15_ENST00000352068.5_Missense_Mutation_p.A32P|RP11-399J13.3_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	32	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CAAAGTAACCGCGCAGGTGAG	0.577											OREG0021069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(56;269 1304 3324 8253)	uc001oci.3		NA																	0				ovary(1)	1						c.(94-96)GCG>CCG		sorting nexin 15 isoform A							51.0	48.0	49.0					11																	64795103		2201	4297	6498	SO:0001583	missense	29907				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	g.chr11:64795103G>C	AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"""Sorting nexins"""	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.94G>C	11.37:g.64795103G>C	ENSP00000366452:p.Ala32Pro		OREG0021069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1079	SNX15_uc009ypy.2_Missense_Mutation_p.A32P|SNX15_uc001ocj.2_Missense_Mutation_p.A32P|SNX15_uc001ock.2_Missense_Mutation_p.A32P	p.A32P	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN			4	747	+			32			PX.		E5KQS6|Q9NRS5	Missense_Mutation	SNP	ENST00000377244.3	37	c.94G>C	CCDS8089.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870370	0.91587	.	.	ENSG00000110025	ENST00000377244;ENST00000524831;ENST00000352068	T;T;T	0.39787	1.06;1.25;1.06	5.2	5.2	0.72013	Phox homologous domain (5);	0.055463	0.64402	D	0.000001	T	0.61211	0.2329	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;0.989;1.0	D;P;D	0.97110	1.0;0.879;1.0	T	0.60136	-0.7322	10	0.51188	T	0.08	-8.9868	16.2651	0.82574	0.0:0.0:1.0:0.0	.	32;32;32	E5KQS5;E5KQS6;Q9NRS6	.;.;SNX15_HUMAN	P	32	ENSP00000366452:A32P;ENSP00000431690:A32P;ENSP00000316410:A32P	ENSP00000316410:A32P	A	+	1	0	SNX15	64551679	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	8.239000	0.89811	2.711000	0.92665	0.549000	0.68633	GCG		0.577	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3			11	26	0	0	0	0	11	26				
NLRX1	79671	broad.mit.edu	37	11	119050721	119050721	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:119050721A>T	ENST00000409109.1	+	7	2578	c.1991A>T	c.(1990-1992)aAg>aTg	p.K664M	NLRX1_ENST00000409265.4_Missense_Mutation_p.K664M|NLRX1_ENST00000525863.1_Missense_Mutation_p.K664M|NLRX1_ENST00000292199.2_Missense_Mutation_p.K664M|NLRX1_ENST00000409991.1_Missense_Mutation_p.K664M	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	664	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AAGCTGGGCAAGCTGGGCCGG	0.602																																						uc001pvu.2		NA																	0				ovary(1)|skin(1)	2						c.(1990-1992)AAG>ATG		NLR family member X1 isoform 1							25.0	26.0	26.0					11																	119050721		2200	4292	6492	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119050721A>T	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1991A>T	11.37:g.119050721A>T	ENSP00000387334:p.Lys664Met					NLRX1_uc010rzc.1_Missense_Mutation_p.K486M|NLRX1_uc001pvv.2_Missense_Mutation_p.K664M|NLRX1_uc001pvw.2_Missense_Mutation_p.K664M|NLRX1_uc001pvx.2_Missense_Mutation_p.K664M	p.K664M	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	7	2206	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	664			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.1991A>T	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.158486	0.57368	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.73152	-0.61;-0.61;-0.72;-0.61;-0.72	5.33	2.71	0.32032	.	0.222293	0.39687	N	0.001289	T	0.62539	0.2436	L	0.27053	0.805	0.35831	D	0.825287	P;P	0.46220	0.874;0.668	P;B	0.53593	0.73;0.395	T	0.65792	-0.6082	10	0.66056	D	0.02	.	1.7255	0.02921	0.5323:0.1941:0.1426:0.131	.	664;664	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	M	664	ENSP00000386851:K664M;ENSP00000292199:K664M;ENSP00000386858:K664M;ENSP00000387334:K664M;ENSP00000433442:K664M	ENSP00000292199:K664M	K	+	2	0	NLRX1	118555931	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	2.645000	0.46621	0.310000	0.22990	0.459000	0.35465	AAG		0.602	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		5	22	0	0	0	0	5	22				
HSPA8	3312	broad.mit.edu	37	11	122930365	122930365	+	Silent	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:122930365G>C	ENST00000532636.1	-	5	1055	c.936C>G	c.(934-936)ggC>ggG	p.G312G	SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000526110.1_Silent_p.G293G|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000534319.1_Silent_p.G76G|HSPA8_ENST00000453788.2_Silent_p.G312G|HSPA8_ENST00000227378.3_Silent_p.G312G|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000534624.1_Silent_p.G312G|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000533540.1_Silent_p.G166G			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	312	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGTCCAGGGTGCCACGGAACA	0.478																																					Colon(21;486 594 5900 6733 14272)	uc001pyo.2		NA																	0				central_nervous_system(7)|lung(1)	8						c.(934-936)GGC>GGG		heat shock 70kDa protein 8 isoform 1							50.0	51.0	51.0					11																	122930365		2202	4299	6501	SO:0001819	synonymous_variant	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122930365G>C	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.936C>G	11.37:g.122930365G>C						HSPA8_uc009zbc.2_Silent_p.G76G|HSPA8_uc001pyp.2_Silent_p.G312G|HSPA8_uc010rzu.1_Silent_p.G235G|HSPA8_uc009zbd.1_Silent_p.G312G	p.G312G	NM_006597	NP_006588	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	5	1014	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	312			Interaction with BAG1.		Q9H3R6	Silent	SNP	ENST00000532636.1	37	c.936C>G	CCDS8440.1																																																																																				0.478	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			23	39	0	0	0	0	23	39				
CLMP	79827	broad.mit.edu	37	11	122944443	122944443	+	Silent	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:122944443G>C	ENST00000448775.2	-	7	1201	c.861C>G	c.(859-861)ccC>ccG	p.P287P	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	287					digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						AAGAGGAGCTGGGTTTCACAA	0.507																																						uc001pyt.2		NA																	0					0						c.(859-861)CCC>CCG		adipocyte-specific adhesion molecule precursor							95.0	94.0	94.0					11																	122944443		2202	4299	6501	SO:0001819	synonymous_variant	79827					integral to membrane|tight junction		g.chr11:122944443G>C	BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24039	protein-coding gene	gene with protein product	"""adipocyte-specific adhesion molecule"", ""coxsackie- and adenovirus receptor-like membrane protein"", ""adipocyte adhesion molecule"""	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.861C>G	11.37:g.122944443G>C							p.P287P	NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)	7	1220	-		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	287			Cytoplasmic (Potential).			Silent	SNP	ENST00000448775.2	37	c.861C>G	CCDS8441.1																																																																																				0.507	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769		17	76	0	0	0	0	17	76				
OR8B3	390271	broad.mit.edu	37	11	124266520	124266520	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:124266520G>C	ENST00000354597.3	-	1	744	c.728C>G	c.(727-729)tCt>tGt	p.S243C		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATGACATGAGAGCTACAAGT	0.383																																						uc010saj.1		NA																	0				ovary(1)|skin(1)	2						c.(727-729)TCT>TGT		olfactory receptor, family 8, subfamily B,							52.0	59.0	57.0					11																	124266520		2193	4278	6471	SO:0001583	missense	390271				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124266520G>C	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.728C>G	11.37:g.124266520G>C	ENSP00000346611:p.Ser243Cys					OR8B2_uc001qab.3_Intron	p.S243C	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	728	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	243			Helical; Name=6; (Potential).		Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	c.728C>G	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	12.57	1.977783	0.34942	.	.	ENSG00000196661	ENST00000354597	T	0.39787	1.06	3.92	2.97	0.34412	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000017	T	0.73393	0.3581	H	0.95950	3.745	0.38995	D	0.959239	D	0.89917	1.0	D	0.87578	0.998	D	0.83507	0.0078	10	0.87932	D	0	.	13.1936	0.59726	0.0:0.0:0.8386:0.1614	.	243	Q8NGG8	OR8B3_HUMAN	C	243	ENSP00000346611:S243C	ENSP00000346611:S243C	S	-	2	0	OR8B3	123771730	0.959000	0.32827	0.913000	0.36048	0.103000	0.19146	5.730000	0.68546	1.179000	0.42884	0.650000	0.86243	TCT		0.383	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		25	89	0	0	0	0	25	89				
OR8B3	390271	broad.mit.edu	37	11	124267068	124267068	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:124267068G>A	ENST00000354597.3	-	1	196	c.180C>T	c.(178-180)taC>taT	p.Y60Y		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGAGGAAATAGTACATTGGTG	0.378																																						uc010saj.1		NA																	0				ovary(1)|skin(1)	2						c.(178-180)TAC>TAT		olfactory receptor, family 8, subfamily B,							115.0	118.0	117.0					11																	124267068		2201	4299	6500	SO:0001819	synonymous_variant	390271				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124267068G>A	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.180C>T	11.37:g.124267068G>A						OR8B2_uc001qab.3_Intron	p.Y60Y	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	180	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	60			Helical; Name=2; (Potential).		Q6IFQ8|Q8NGH1	Silent	SNP	ENST00000354597.3	37	c.180C>T	CCDS31709.1																																																																																				0.378	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		23	22	0	0	0	0	23	22				
CHEK1	1111	broad.mit.edu	37	11	125525182	125525182	+	Silent	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr11:125525182G>C	ENST00000534070.1	+	13	1653	c.1398G>C	c.(1396-1398)gtG>gtC	p.V466V	CHEK1_ENST00000427383.2_Silent_p.V482V|CHEK1_ENST00000544373.1_Silent_p.V432V|CHEK1_ENST00000428830.2_Silent_p.V466V|CHEK1_ENST00000524737.1_Silent_p.V466V|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000278916.3_Silent_p.V422V|CHEK1_ENST00000438015.1_Silent_p.V466V	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	466	Autoinhibitory region.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TTGATATTGTGAGCAGCCAGA	0.398								Other conserved DNA damage response genes																														uc009zbo.2		NA																	0				central_nervous_system(3)|lung(2)|skin(1)	6						c.(1396-1398)GTG>GTC	Other_conserved_DNA_damage_response_genes	checkpoint kinase 1							56.0	59.0	58.0					11																	125525182		2201	4299	6500	SO:0001819	synonymous_variant	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125525182G>C	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.1398G>C	11.37:g.125525182G>C						CHEK1_uc010sbh.1_Silent_p.V482V|CHEK1_uc010sbi.1_Silent_p.V432V|CHEK1_uc001qcf.3_Silent_p.V466V|CHEK1_uc009zbp.2_Silent_p.V466V|CHEK1_uc001qcg.3_Silent_p.V466V|CHEK1_uc009zbq.2_Silent_p.V422V|CHEK1_uc001qci.1_RNA|CHEK1_uc001qcj.2_Silent_p.V114V	p.V466V	NM_001114122	NP_001107594	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	13	2290	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	466			Autoinhibitory region.		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Silent	SNP	ENST00000534070.1	37	c.1398G>C	CCDS8459.1																																																																																				0.398	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		9	18	0	0	0	0	9	18				
PZP	5858	broad.mit.edu	37	12	9318716	9318716	+	Silent	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:9318716T>C	ENST00000261336.2	-	18	2218	c.2190A>G	c.(2188-2190)tcA>tcG	p.S730S	PZP_ENST00000381997.2_Silent_p.S599S|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	730	Bait region.				female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGACTGGCCCTGAACTTTGTT	0.413																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(2188-2190)TCA>TCG		pregnancy-zone protein precursor							136.0	128.0	130.0					12																	9318716		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9318716T>C	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2190A>G	12.37:g.9318716T>C						PZP_uc009zgl.2_Silent_p.S599S|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Silent_p.S62S	p.S730S	NM_002864	NP_002855					18	2219	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.2190A>G	CCDS8600.1																																																																																				0.413	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		41	96	0	0	0	0	41	96				
SLCO1C1	53919	broad.mit.edu	37	12	20864365	20864365	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:20864365C>A	ENST00000266509.2	+	5	818	c.450C>A	c.(448-450)agC>agA	p.S150R	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.S150R|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S150R|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S150R|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S32R	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	150					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CCACTCTCAGCATCTCTCCGT	0.348																																						uc001rej.3		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(448-450)AGC>AGA		solute carrier organic anion transporter family,							144.0	138.0	140.0					12																	20864365		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20864365C>A	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.450C>A	12.37:g.20864365C>A	ENSP00000266509:p.Ser150Arg					SLCO1C1_uc010sii.1_Missense_Mutation_p.S150R|SLCO1C1_uc010sij.1_Missense_Mutation_p.S150R|SLCO1C1_uc009zip.2_5'UTR|SLCO1C1_uc001rei.2_Missense_Mutation_p.S150R|SLCO1C1_uc010sik.1_Missense_Mutation_p.S32R	p.S150R	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			6	805	+	Esophageal squamous(101;0.149)		150			Extracellular (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.450C>A	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420538	0.42918	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.58797	1.04;0.31;1.04;1.04;1.04	4.41	2.43	0.29744	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.657976	0.14804	N	0.297451	T	0.52996	0.1769	L	0.35487	1.065	0.33646	D	0.607817	P;P;B;B	0.51791	0.948;0.774;0.221;0.029	P;P;B;B	0.52823	0.578;0.71;0.285;0.152	T	0.58781	-0.7576	10	0.27785	T	0.31	.	8.8278	0.35065	0.0:0.8155:0.0:0.1845	.	32;150;150;150	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	R	150;150;150;150;32	ENSP00000444149:S150R;ENSP00000438665:S150R;ENSP00000266509:S150R;ENSP00000370964:S150R;ENSP00000444527:S32R	ENSP00000266509:S150R	S	+	3	2	SLCO1C1	20755632	0.980000	0.34600	0.912000	0.35992	0.995000	0.86356	0.476000	0.22180	0.993000	0.38866	0.655000	0.94253	AGC		0.348	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		22	114	1	0	5.35e-11	6.58e-11	22	114				
ADAMTS20	80070	broad.mit.edu	37	12	43944888	43944888	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:43944888G>T	ENST00000389420.3	-	2	276	c.277C>A	c.(277-279)Ctg>Atg	p.L93M	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.L93M	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	93					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCGGCGGTCAGGTTCAGCTGG	0.667																																						uc010skx.1		NA																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(277-279)CTG>ATG		a disintegrin-like and metalloprotease with							57.0	60.0	59.0					12																	43944888		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43944888G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.277C>A	12.37:g.43944888G>T	ENSP00000374071:p.Leu93Met						p.L93M	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	2	277	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	93					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.277C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166136	0.78339	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.33865	1.39;1.39	3.84	3.84	0.44239	Peptidase M12B, propeptide (1);	0.000000	0.29106	N	0.013130	T	0.61286	0.2335	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66842	-0.5821	10	0.87932	D	0	.	11.3256	0.49446	0.0928:0.0:0.9072:0.0	.	93	P59510	ATS20_HUMAN	M	93	ENSP00000374071:L93M;ENSP00000448341:L93M	ENSP00000374068:L93M	L	-	1	2	ADAMTS20	42231155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.891000	0.69782	2.435000	0.82474	0.655000	0.94253	CTG		0.667	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		22	20	1	0	3.8e-18	5.08e-18	22	20				
DDX23	9416	broad.mit.edu	37	12	49229995	49229995	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:49229995T>C	ENST00000308025.3	-	11	1370	c.1291A>G	c.(1291-1293)Atc>Gtc	p.I431V	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	431	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						ACACCAATGATGTCACGATTC	0.507																																						uc001rsm.2		NA																	0				kidney(3)|ovary(1)|lung(1)|skin(1)	6						c.(1291-1293)ATC>GTC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							197.0	182.0	187.0					12																	49229995		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49229995T>C	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1291A>G	12.37:g.49229995T>C	ENSP00000310723:p.Ile431Val						p.I431V	NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN			11	1382	-			431			Helicase ATP-binding.		B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.1291A>G	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.503802	0.44558	.	.	ENSG00000174243	ENST00000308025	T	0.10573	2.86	5.49	5.49	0.81192	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.07683	0.0193	N	0.10837	0.055	0.80722	D	1	P	0.35700	0.516	B	0.39771	0.309	T	0.48246	-0.9052	10	0.15952	T	0.53	-11.6761	14.5545	0.68091	0.0:0.0:0.0:1.0	.	431	Q9BUQ8	DDX23_HUMAN	V	431	ENSP00000310723:I431V	ENSP00000310723:I431V	I	-	1	0	DDX23	47516262	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.909000	0.87444	2.079000	0.62486	0.459000	0.35465	ATC		0.507	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		47	126	0	0	0	0	47	126				
KRT72	140807	broad.mit.edu	37	12	52979944	52979944	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:52979944C>A	ENST00000537672.2	-	9	1368	c.1358G>T	c.(1357-1359)aGc>aTc	p.S453I	KRT72_ENST00000354310.4_Missense_Mutation_p.S411I|KRT72_ENST00000398066.3_Missense_Mutation_p.S265I|KRT72_ENST00000293745.2_Missense_Mutation_p.S453I	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	453	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		AGCATTGGTGCTGCTGATGAC	0.587																																						uc001sar.2		NA																	0				ovary(5)|pancreas(1)	6						c.(1357-1359)AGC>ATC		keratin 72 isoform 1							42.0	39.0	40.0					12																	52979944		2203	4300	6503	SO:0001583	missense	140807					keratin filament	structural molecule activity	g.chr12:52979944C>A	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1358G>T	12.37:g.52979944C>A	ENSP00000441160:p.Ser453Ile					KRT72_uc001saq.2_Missense_Mutation_p.S453I|KRT72_uc010sns.1_Missense_Mutation_p.S411I|KRT72_uc010snt.1_Missense_Mutation_p.S265I	p.S453I	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	9	1444	-			453			Tail.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.1358G>T	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778701	0.31502	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;T	0.84516	-1.78;-1.78;-1.86;-1.48	4.42	0.832	0.18867	.	0.256443	0.26919	N	0.021823	T	0.79100	0.4389	L	0.60455	1.87	0.30648	N	0.755698	B;B	0.34015	0.435;0.435	B;B	0.30179	0.112;0.112	T	0.74917	-0.3501	10	0.87932	D	0	.	9.2265	0.37410	0.0:0.8526:0.0:0.1474	.	411;453	B4DEI8;Q14CN4	.;K2C72_HUMAN	I	453;453;411;265	ENSP00000441160:S453I;ENSP00000293745:S453I;ENSP00000346269:S411I;ENSP00000446151:S265I	ENSP00000293745:S453I	S	-	2	0	KRT72	51266211	0.997000	0.39634	0.951000	0.38953	0.607000	0.37147	0.252000	0.18278	0.038000	0.15604	0.545000	0.68477	AGC		0.587	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		17	18	1	0	9.17e-09	1.09e-08	17	18				
OR6C76	390326	broad.mit.edu	37	12	55820894	55820894	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:55820894T>C	ENST00000328314.3	+	1	857	c.857T>C	c.(856-858)aTt>aCt	p.I286T		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AATCCATTTATTTACACTCTA	0.348																																						uc010spm.1		NA																	0					0						c.(856-858)ATT>ACT		olfactory receptor, family 6, subfamily C,							49.0	49.0	49.0					12																	55820894		2203	4299	6502	SO:0001583	missense	390326				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55820894T>C		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.857T>C	12.37:g.55820894T>C	ENSP00000328402:p.Ile286Thr						p.I286T	NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN			1	857	+			286			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000328314.3	37	c.857T>C	CCDS31823.1	.	.	.	.	.	.	.	.	.	.	t	18.83	3.706661	0.68615	.	.	ENSG00000185821	ENST00000328314	T	0.57273	0.41	4.25	4.25	0.50352	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	U	0.000249	T	0.80874	0.4707	H	0.97983	4.12	0.38235	D	0.941144	D	0.69078	0.997	D	0.68353	0.957	D	0.88640	0.3175	10	0.87932	D	0	.	12.6134	0.56563	0.0:0.0:0.0:1.0	.	286	A6NM76	O6C76_HUMAN	T	286	ENSP00000328402:I286T	ENSP00000328402:I286T	I	+	2	0	OR6C76	54107161	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	6.875000	0.75551	1.923000	0.55706	0.487000	0.48397	ATT		0.348	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183		23	20	0	0	0	0	23	20				
NAB2	4665	broad.mit.edu	37	12	57485439	57485439	+	Silent	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:57485439G>C	ENST00000300131.3	+	2	993	c.615G>C	c.(613-615)tcG>tcC	p.S205S	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Silent_p.S205S|NAB2_ENST00000357680.4_Silent_p.S205S	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	205					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGGCTGGCTCGCCCCCCTTCT	0.726																																						uc001smz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(613-615)TCG>TCC		NGFI-A binding protein 2							12.0	17.0	15.0					12																	57485439		2194	4280	6474	SO:0001819	synonymous_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485439G>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.615G>C	12.37:g.57485439G>C							p.S205S	NM_005967	NP_005958	Q15742	NAB2_HUMAN			2	993	+			205					B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	c.615G>C	CCDS8930.1																																																																																				0.726	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		5	22	0	0	0	0	5	22				
LGR5	8549	broad.mit.edu	37	12	71978435	71978435	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:71978435C>T	ENST00000266674.5	+	18	2956	c.2645C>T	c.(2644-2646)cCc>cTc	p.P882L	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Missense_Mutation_p.P858L|LGR5_ENST00000536515.1_Missense_Mutation_p.P810L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	882					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GACCTGCCTCCCAGTTCCGTG	0.448																																						uc001swl.2		NA																	0				lung(4)|skin(3)|ovary(1)|pancreas(1)	9						c.(2644-2646)CCC>CTC		leucine-rich repeat-containing G protein-coupled							150.0	142.0	144.0					12																	71978435		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71978435C>T	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2645C>T	12.37:g.71978435C>T	ENSP00000266674:p.Pro882Leu					LGR5_uc001swm.2_Missense_Mutation_p.P858L|LGR5_uc001swn.1_RNA	p.P882L	NM_003667	NP_003658	O75473	LGR5_HUMAN			18	2693	+			882			Cytoplasmic (Potential).		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.2645C>T	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	5.290	0.238976	0.10023	.	.	ENSG00000139292	ENST00000266674;ENST00000536515;ENST00000540815	T;T;T	0.56941	0.49;0.43;0.56	5.97	5.08	0.68730	.	0.402007	0.24334	N	0.039440	T	0.35158	0.0922	N	0.08118	0	0.09310	N	0.999997	B;B	0.13594	0.003;0.008	B;B	0.15052	0.012;0.008	T	0.13415	-1.0510	10	0.28530	T	0.3	.	17.2169	0.86946	0.0:0.874:0.126:0.0	.	858;882	O75473-2;O75473	.;LGR5_HUMAN	L	882;810;858	ENSP00000266674:P882L;ENSP00000443033:P810L;ENSP00000441035:P858L	ENSP00000266674:P882L	P	+	2	0	LGR5	70264702	0.151000	0.22747	0.850000	0.33497	0.029000	0.11900	2.329000	0.43876	1.516000	0.48900	-0.283000	0.09986	CCC		0.448	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		66	75	0	0	0	0	66	75				
NEDD1	121441	broad.mit.edu	37	12	97303599	97303599	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:97303599C>G	ENST00000266742.4	+	3	401	c.62C>G	c.(61-63)tCt>tGt	p.S21C	NEDD1_ENST00000557644.1_Missense_Mutation_p.S28C|NEDD1_ENST00000457368.2_5'Flank|NEDD1_ENST00000429527.2_Missense_Mutation_p.S21C|NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000411739.2_Intron	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	21					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GATGCTTCATCTATGACATTG	0.348																																						uc001teu.3		NA																	0					0						c.(61-63)TCT>TGT		neural precursor cell expressed, developmentally							101.0	95.0	97.0					12																	97303599		2203	4300	6503	SO:0001583	missense	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97303599C>G		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.62C>G	12.37:g.97303599C>G	ENSP00000266742:p.Ser21Cys					NEDD1_uc001tev.3_Missense_Mutation_p.S21C|NEDD1_uc010svc.1_Intron|NEDD1_uc001tew.2_Missense_Mutation_p.S28C|NEDD1_uc001tex.2_5'Flank	p.S21C	NM_152905	NP_690869	Q8NHV4	NEDD1_HUMAN			3	401	+			21			WD 1.		B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	c.62C>G	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267238	0.80469	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000554226;ENST00000557478;ENST00000557092;ENST00000557644	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;4.84;1.45	5.7	4.8	0.61643	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.338170	0.35772	N	0.002982	T	0.45155	0.1328	L	0.50333	1.59	0.80722	D	1	D;D	0.64830	0.994;0.979	P;P	0.58873	0.847;0.635	T	0.44590	-0.9318	10	0.87932	D	0	1.2468	13.7802	0.63079	0.0:0.9253:0.0:0.0747	.	28;21	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	C	21;21;28;21;21;28	ENSP00000266742:S21C;ENSP00000404978:S21C;ENSP00000450881:S28C;ENSP00000451869:S21C;ENSP00000450757:S21C;ENSP00000451211:S28C	ENSP00000266742:S21C	S	+	2	0	NEDD1	95827730	0.994000	0.37717	0.978000	0.43139	0.988000	0.76386	4.457000	0.60088	1.388000	0.46506	0.561000	0.74099	TCT		0.348	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			14	17	0	0	0	0	14	17				
PIWIL1	9271	broad.mit.edu	37	12	130847589	130847589	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:130847589G>A	ENST00000245255.3	+	18	2367	c.2095G>A	c.(2095-2097)Gtg>Atg	p.V699M		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	699	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CCGGATCATCGTGTACCGCGA	0.488																																						uc001uik.2		NA																	0				ovary(2)	2						c.(2095-2097)GTG>ATG		piwi-like 1							114.0	112.0	113.0					12																	130847589		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130847589G>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2095G>A	12.37:g.130847589G>A	ENSP00000245255:p.Val699Met					PIWIL1_uc001uij.1_Missense_Mutation_p.V699M	p.V699M	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	18	2185	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		699			Piwi.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.2095G>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700418	0.68501	.	.	ENSG00000125207	ENST00000245255	T	0.16597	2.33	5.66	5.66	0.87406	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.056584	0.64402	D	0.000001	T	0.37785	0.1016	M	0.79258	2.445	0.58432	D	0.999999	D;D	0.71674	0.998;0.994	P;P	0.59546	0.859;0.815	T	0.14699	-1.0463	10	0.66056	D	0.02	-15.817	12.0926	0.53736	0.0782:0.0:0.9218:0.0	.	699;699	Q96J94;Q96J94-2	PIWL1_HUMAN;.	M	699	ENSP00000245255:V699M	ENSP00000245255:V699M	V	+	1	0	PIWIL1	129413542	1.000000	0.71417	0.960000	0.40013	0.456000	0.32438	5.444000	0.66587	2.663000	0.90544	0.591000	0.81541	GTG		0.488	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			8	44	0	0	0	0	8	44				
IFT88	8100	broad.mit.edu	37	13	21212594	21212594	+	Missense_Mutation	SNP	G	G	A	rs551160953		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr13:21212594G>A	ENST00000319980.6	+	19	1864	c.1537G>A	c.(1537-1539)Gct>Act	p.A513T	IFT88_ENST00000351808.5_Missense_Mutation_p.A504T|IFT88_ENST00000537103.1_Missense_Mutation_p.A485T|IFT88_ENST00000382778.4_Missense_Mutation_p.A513T	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	513					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)		p.A513T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TGAGAAGGCCGCTGAATTCTA	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		15545	0.0		0.0	False		,,,				2504	0.001					uc001unh.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)	1						c.(1537-1539)GCT>ACT		intraflagellar transport 88 homolog isoform 1							89.0	96.0	94.0					13																	21212594		2202	4300	6502	SO:0001583	missense	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21212594G>A	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1537G>A	13.37:g.21212594G>A	ENSP00000323580:p.Ala513Thr					IFT88_uc001uni.2_Missense_Mutation_p.A504T|IFT88_uc001unj.2_Missense_Mutation_p.A503T|IFT88_uc010tcq.1_Missense_Mutation_p.A484T|IFT88_uc001unk.2_Missense_Mutation_p.A259T	p.A513T	NM_175605	NP_783195	Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	19	1933	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	513			TPR 7.		A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	c.1537G>A	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459263	0.63401	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	5.74	4.9	0.64082	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	M	0.64997	1.995	0.80722	D	1	D;P;P	0.58970	0.984;0.796;0.768	P;B;B	0.48166	0.569;0.294;0.12	T	0.57700	-0.7766	10	0.15499	T	0.54	-12.0484	14.6088	0.68501	0.0698:0.0:0.9302:0.0	.	485;311;513	F5H6C2;Q6MZX0;Q13099	.;.;IFT88_HUMAN	T	513;376;504;513;485	ENSP00000372228:A513T;ENSP00000261632:A504T;ENSP00000323580:A513T;ENSP00000437719:A485T	ENSP00000323580:A513T	A	+	1	0	IFT88	20110594	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.198000	0.94994	1.429000	0.47314	0.561000	0.74099	GCT		0.338	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		73	52	0	0	0	0	73	52				
TRPC4	7223	broad.mit.edu	37	13	38357101	38357101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr13:38357101C>A	ENST00000379705.3	-	2	1227	c.370G>T	c.(370-372)Gaa>Taa	p.E124*	TRPC4_ENST00000447043.1_Nonsense_Mutation_p.E124*|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.E124*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.E124*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.E124*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.E124*|TRPC4_ENST00000426868.2_Nonsense_Mutation_p.E124*|TRPC4_ENST00000338947.5_Nonsense_Mutation_p.E124*|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.E124*			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	124	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ACCTGTTTTTCTCCACTAGGT	0.308																																						uc001uws.2		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(370-372)GAA>TAA		transient receptor potential cation channel,							46.0	48.0	47.0					13																	38357101		2203	4298	6501	SO:0001587	stop_gained	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38357101C>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.370G>T	13.37:g.38357101C>A	ENSP00000369027:p.Glu124*					TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Nonsense_Mutation_p.E124*|TRPC4_uc010tey.1_Nonsense_Mutation_p.E124*|TRPC4_uc010abw.2_Nonsense_Mutation_p.E124*|TRPC4_uc010abx.2_Nonsense_Mutation_p.E124*|TRPC4_uc010aby.2_Nonsense_Mutation_p.E124*	p.E124*	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	2	605	-			124			ANK 3.|Cytoplasmic (Potential).|Multimerization domain (By similarity).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Nonsense_Mutation	SNP	ENST00000379705.3	37	c.370G>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	41	8.699123	0.98920	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	.	.	.	5.91	5.91	0.95273	.	0.143577	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.9949	20.3011	0.98612	0.0:1.0:0.0:0.0	.	.	.	.	X	124	.	ENSP00000342580:E124X	E	-	1	0	TRPC4	37255101	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.818000	0.86416	2.804000	0.96469	0.650000	0.86243	GAA		0.308	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		42	30	1	0	7.05e-23	9.63e-23	42	30				
LCP1	3936	broad.mit.edu	37	13	46721147	46721147	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr13:46721147C>T	ENST00000398576.2	-	13	1458	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	LCP1_ENST00000323076.2_Missense_Mutation_p.R357Q			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	357	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GGGGTTCCCTCGGACAACATC	0.547			T	BCL6	NHL																																	uc001vaz.3		NA		Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL 		0				lung(4)|ovary(3)	7						c.(1069-1071)CGA>CAA		L-plastin							85.0	80.0	82.0					13																	46721147		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46721147C>T	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1070G>A	13.37:g.46721147C>T	ENSP00000381581:p.Arg357Gln					LCP1_uc001vay.3_5'Flank|LCP1_uc001vba.3_Missense_Mutation_p.R357Q	p.R357Q	NM_002298	NP_002289	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	10	1196	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	357			CH 2.|Actin-binding 1.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.1070G>A	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954108	0.73902	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	D;D	0.95447	-3.71;-3.71	5.34	4.5	0.54988	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.93363	0.7884	L	0.34521	1.04	0.80722	D	1	P	0.47545	0.897	P	0.48770	0.589	D	0.92163	0.5737	10	0.35671	T	0.21	-0.9305	13.3752	0.60734	0.0:0.924:0.0:0.0759	.	357	P13796	PLSL_HUMAN	Q	357	ENSP00000315757:R357Q;ENSP00000381581:R357Q	ENSP00000315757:R357Q	R	-	2	0	LCP1	45619148	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.030000	0.70903	1.379000	0.46325	0.650000	0.86243	CGA		0.547	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		10	86	0	0	0	0	10	86				
THSD1	55901	broad.mit.edu	37	13	52951683	52951683	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr13:52951683C>G	ENST00000258613.4	-	5	2600	c.2422G>C	c.(2422-2424)Gag>Cag	p.E808Q	THSD1_ENST00000349258.4_Missense_Mutation_p.E755Q|THSD1_ENST00000544466.1_Missense_Mutation_p.E429Q	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	808					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		AAGGCAAACTCAGGGTGAGTG	0.488																																						uc001vgo.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(2422-2424)GAG>CAG		thrombospondin type I domain-containing 1							44.0	48.0	47.0					13																	52951683		2202	4280	6482	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52951683C>G	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.2422G>C	13.37:g.52951683C>G	ENSP00000258613:p.Glu808Gln					THSD1_uc001vgp.2_Missense_Mutation_p.E755Q|THSD1_uc010tgz.1_Missense_Mutation_p.E429Q|THSD1_uc010aea.2_Missense_Mutation_p.E269Q	p.E808Q	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	5	2967	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	808			Cytoplasmic (Potential).		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.2422G>C	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367081	0.61513	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.36340	1.98;1.26;2.15	5.67	5.67	0.87782	.	0.139055	0.50627	D	0.000110	T	0.60958	0.2309	M	0.65975	2.015	0.36318	D	0.858091	D;D	0.71674	0.998;0.996	D;P	0.80764	0.994;0.764	T	0.66830	-0.5824	10	0.72032	D	0.01	-38.2467	19.1179	0.93350	0.0:1.0:0.0:0.0	.	755;808	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	Q	755;429;808	ENSP00000340650:E755Q;ENSP00000438512:E429Q;ENSP00000258613:E808Q	ENSP00000258613:E808Q	E	-	1	0	THSD1	51849684	0.998000	0.40836	0.968000	0.41197	0.859000	0.49053	3.841000	0.55850	2.834000	0.97654	0.508000	0.49915	GAG		0.488	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			32	31	0	0	0	0	32	31				
DIAPH3	81624	broad.mit.edu	37	13	60737866	60737866	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr13:60737866G>A	ENST00000400324.4	-	1	255	c.35C>T	c.(34-36)gCc>gTc	p.A12V	DIAPH3_ENST00000377908.2_Missense_Mutation_p.A12V|DIAPH3_ENST00000400319.1_Missense_Mutation_p.A12V|DIAPH3_ENST00000267215.4_Missense_Mutation_p.A12V|DIAPH3_ENST00000400320.1_Missense_Mutation_p.A12V|DIAPH3_ENST00000400330.1_Missense_Mutation_p.A12V	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	12					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TGAGCCTTGGGCCGGGTGGTG	0.682																																						uc001vht.2		NA																	0				ovary(2)	2						c.(34-36)GCC>GTC		diaphanous homolog 3 isoform a							8.0	13.0	11.0					13																	60737866		1897	4077	5974	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60737866G>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.35C>T	13.37:g.60737866G>A	ENSP00000383178:p.Ala12Val					DIAPH3_uc001vhw.1_Missense_Mutation_p.A12V|DIAPH3_uc010aed.1_Missense_Mutation_p.A12V|DIAPH3_uc010aee.1_Missense_Mutation_p.A12V	p.A12V	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	1	254	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	12					A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.35C>T	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426680	0.43020	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000453990	T;T;T;D;T;T	0.81579	-1.48;-1.48;-1.49;-1.51;-1.49;-1.46	4.88	0.734	0.18294	.	2.423640	0.01456	N	0.015686	T	0.67230	0.2871	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.47749	-0.9093	10	0.33141	T	0.24	.	1.9606	0.03385	0.1079:0.1779:0.3724:0.3419	.	12;12;12;12	A8MYX0;C9JL55;C9JDG1;Q9NSV4	.;.;.;DIAP3_HUMAN	V	12	ENSP00000383178:A12V;ENSP00000383184:A12V;ENSP00000367141:A12V;ENSP00000383173:A12V;ENSP00000383174:A12V;ENSP00000267215:A12V	ENSP00000267215:A12V	A	-	2	0	DIAPH3	59635867	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.200000	0.17257	-0.080000	0.12685	-0.345000	0.07892	GCC		0.682	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		11	8	0	0	0	0	11	8				
KLHL1	57626	broad.mit.edu	37	13	70314562	70314562	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr13:70314562G>T	ENST00000377844.4	-	8	2525	c.1766C>A	c.(1765-1767)gCt>gAt	p.A589D	KLHL1_ENST00000545028.1_Missense_Mutation_p.A396D	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	589					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGTGCTCCGAGCAATTGACAT	0.378																																						uc001vip.2		NA																	0					0						c.(1765-1767)GCT>GAT		kelch-like 1 protein							97.0	84.0	88.0					13																	70314562		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70314562G>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1766C>A	13.37:g.70314562G>T	ENSP00000367075:p.Ala589Asp					KLHL1_uc010thm.1_Missense_Mutation_p.A528D	p.A589D	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	8	2560	-		Breast(118;0.000162)	589			Kelch 3.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1766C>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067094	0.76301	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	D;D	0.81499	-1.5;-1.5	4.95	4.95	0.65309	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000016	T	0.81875	0.4915	M	0.78916	2.43	0.53005	D	0.999969	B;B	0.18741	0.03;0.03	B;B	0.21708	0.036;0.036	T	0.78401	-0.2218	10	0.31617	T	0.26	.	18.5347	0.91006	0.0:0.0:1.0:0.0	.	589;589	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	D	589;396	ENSP00000367075:A589D;ENSP00000439602:A396D	ENSP00000367075:A589D	A	-	2	0	KLHL1	69212563	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.710000	0.98732	2.476000	0.83614	0.491000	0.48974	GCT		0.378	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		22	36	1	0	5.35e-11	6.58e-11	22	36				
TBC1D4	9882	broad.mit.edu	37	13	75898460	75898460	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr13:75898460G>A	ENST00000377636.3	-	11	2457	c.2111C>T	c.(2110-2112)tCt>tTt	p.S704F	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Intron|TBC1D4_ENST00000431480.2_Missense_Mutation_p.S704F	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	704	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GGAAGGGGCAGAGAAGGAAGT	0.443																																						uc001vjl.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2110-2112)TCT>TTT		TBC1 domain family, member 4							130.0	137.0	135.0					13																	75898460		1888	4110	5998	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75898460G>A	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2111C>T	13.37:g.75898460G>A	ENSP00000366863:p.Ser704Phe					TBC1D4_uc010aer.2_Missense_Mutation_p.S704F|TBC1D4_uc010aes.2_Intron	p.S704F	NM_014832	NP_055647	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	11	2458	-		Prostate(6;0.014)|Breast(118;0.0982)	704			Ser-rich.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.2111C>T	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813013	0.70912	.	.	ENSG00000136111	ENST00000377636;ENST00000431480	T;T	0.03496	3.94;3.91	5.33	5.33	0.75918	.	1.027000	0.07747	N	0.947916	T	0.05547	0.0146	N	0.12182	0.205	0.80722	D	1	D;P	0.53462	0.96;0.868	P;B	0.48795	0.59;0.312	T	0.54173	-0.8333	10	0.56958	D	0.05	-17.9677	14.5484	0.68050	0.0:0.0:1.0:0.0	.	704;704	O60343-3;O60343	.;TBCD4_HUMAN	F	704	ENSP00000366863:S704F;ENSP00000395986:S704F	ENSP00000366863:S704F	S	-	2	0	TBC1D4	74796461	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.704000	0.68347	2.495000	0.84180	0.655000	0.94253	TCT		0.443	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		27	34	0	0	0	0	27	34				
POTEG	404785	broad.mit.edu	37	14	19553564	19553564	+	Missense_Mutation	SNP	G	G	T	rs369726800		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:19553564G>T	ENST00000409832.3	+	1	200	c.148G>T	c.(148-150)Gac>Tac	p.D50Y		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	50										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGAGACCACGACGATTCTGC	0.607																																						uc001vuz.1		NA																	0				ovary(1)	1						c.(148-150)GAC>TAC		POTE ankyrin domain family, member G							86.0	119.0	108.0					14																	19553564		2192	4283	6475	SO:0001583	missense	404785							g.chr14:19553564G>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.148G>T	14.37:g.19553564G>T	ENSP00000386971:p.Asp50Tyr					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.D50Y	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	200	+			50					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.148G>T	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	8.277	0.814768	0.16607	.	.	ENSG00000222036	ENST00000409832	T	0.41758	0.99	.	.	.	.	.	.	.	.	T	0.50565	0.1623	L	0.43152	1.355	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.36138	-0.9760	7	0.87932	D	0	.	.	.	.	.	50	Q6S5H5	POTEG_HUMAN	Y	50	ENSP00000386971:D50Y	ENSP00000386971:D50Y	D	+	1	0	POTEG	18623564	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	-0.414000	0.07114	0.162000	0.19483	0.165000	0.16767	GAC		0.607	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		63	537	1	0	1.31e-26	1.82e-26	63	537				
OR4Q3	441669	broad.mit.edu	37	14	20216207	20216207	+	Silent	SNP	G	G	C	rs150293428	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:20216207G>C	ENST00000331723.1	+	1	621	c.621G>C	c.(619-621)ctG>ctC	p.L207L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGTCTGCTGTCTCTTGTCT	0.488													G|||	10	0.00199681	0.0	0.0	5008	,	,		28733	0.0		0.0099	False		,,,				2504	0.0					uc010tkt.1		NA																	0				breast(3)	3						c.(619-621)CTG>CTC		olfactory receptor, family 4, subfamily Q,				7,4399		0,7,2196	222.0	172.0	189.0		621	-7.4	0.6	14	dbSNP_134	189	59,8541		0,59,4241	no	coding-synonymous	OR4Q3	NM_172194.1		0,66,6437	CC,CG,GG		0.686,0.1589,0.5075		207/314	20216207	66,12940	2203	4300	6503	SO:0001819	synonymous_variant	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216207G>C	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.621G>C	14.37:g.20216207G>C							p.L207L	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	621	+	all_cancers(95;0.00108)		207			Helical; Name=5; (Potential).		Q6IEX4	Silent	SNP	ENST00000331723.1	37	c.621G>C	CCDS32020.1																																																																																				0.488	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			26	95	0	0	0	0	26	95				
OR11H6	122748	broad.mit.edu	37	14	20692620	20692620	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:20692620G>C	ENST00000315519.2	+	1	830	c.752G>C	c.(751-753)gGt>gCt	p.G251A		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TCTGGTGCTGGTCGAACTAAA	0.478																																						uc010tlc.1		NA																	0				ovary(2)|skin(1)	3						c.(751-753)GGT>GCT		olfactory receptor, family 11, subfamily H,							111.0	95.0	101.0					14																	20692620		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692620G>C		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.752G>C	14.37:g.20692620G>C	ENSP00000319071:p.Gly251Ala						p.G251A	NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	752	+	all_cancers(95;0.00108)		251			Cytoplasmic (Potential).		Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.752G>C	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818770	0.71028	.	.	ENSG00000176219	ENST00000315519	T	0.00285	8.3	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000105	T	0.00754	0.0025	M	0.83692	2.655	0.39324	D	0.965304	D	0.71674	0.998	D	0.76575	0.988	T	0.72184	-0.4367	10	0.87932	D	0	.	15.3459	0.74337	0.0:0.0:1.0:0.0	.	251	Q8NGC7	O11H6_HUMAN	A	251	ENSP00000319071:G251A	ENSP00000319071:G251A	G	+	2	0	OR11H6	19762460	0.947000	0.32204	0.994000	0.49952	0.936000	0.57629	2.123000	0.41996	2.474000	0.83562	0.471000	0.43371	GGT		0.478	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			15	12	0	0	0	0	15	12				
NPAS3	64067	broad.mit.edu	37	14	34269385	34269385	+	Silent	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:34269385C>A	ENST00000356141.4	+	12	1872	c.1872C>A	c.(1870-1872)ggC>ggA	p.G624G	NPAS3_ENST00000551492.1_Silent_p.G629G|NPAS3_ENST00000346562.2_Silent_p.G592G|NPAS3_ENST00000548645.1_Silent_p.G594G|NPAS3_ENST00000357798.5_Silent_p.G611G			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	624					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CGAGCCCAGGCGGCCTGGACG	0.672																																						uc001wru.2		NA																	0				ovary(1)|skin(1)	2						c.(1870-1872)GGC>GGA		neuronal PAS domain protein 3 isoform 3							13.0	15.0	14.0					14																	34269385		2189	4276	6465	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269385C>A	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1872C>A	14.37:g.34269385C>A						NPAS3_uc001wrs.2_Silent_p.G611G|NPAS3_uc001wrt.2_Silent_p.G592G|NPAS3_uc001wrv.2_Silent_p.G594G	p.G624G	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	12	1936	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		624					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.1872C>A	CCDS53891.1																																																																																				0.672	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			17	6	1	0	3.53e-06	3.98e-06	17	6				
BAZ1A	11177	broad.mit.edu	37	14	35243604	35243604	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:35243604C>T	ENST00000382422.2	-	18	3253	c.2926G>A	c.(2926-2928)Gaa>Aaa	p.E976K	BAZ1A_ENST00000358716.4_Missense_Mutation_p.E944K|BAZ1A_ENST00000360310.1_Missense_Mutation_p.E976K			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	976					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AGCCTTAGTTCAAGTTGCTTT	0.378																																						uc001wsk.2		NA																	0				lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(2926-2928)GAA>AAA		bromodomain adjacent to zinc finger domain, 1A							124.0	117.0	119.0					14																	35243604		2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35243604C>T	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.2926G>A	14.37:g.35243604C>T	ENSP00000371859:p.Glu976Lys					BAZ1A_uc001wsl.2_Missense_Mutation_p.E944K	p.E976K	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	19	3494	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		976					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.2926G>A	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237704	0.95240	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.76968	-1.06;-1.06;-1.06	5.74	5.74	0.90152	.	0.104419	0.64402	D	0.000004	D	0.88540	0.6464	M	0.77313	2.365	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.993	D	0.86873	0.2037	10	0.39692	T	0.17	.	19.9403	0.97159	0.0:1.0:0.0:0.0	.	944;976	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	K	944;976;976;628	ENSP00000351555:E944K;ENSP00000371859:E976K;ENSP00000353458:E976K	ENSP00000351555:E944K	E	-	1	0	BAZ1A	34313355	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.493000	0.73658	2.712000	0.92718	0.650000	0.86243	GAA		0.378	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			10	40	0	0	0	0	10	40				
LRFN5	145581	broad.mit.edu	37	14	42356760	42356760	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:42356760G>T	ENST00000298119.4	+	3	2121	c.932G>T	c.(931-933)aGg>aTg	p.R311M	LRFN5_ENST00000554120.1_Missense_Mutation_p.R311M|LRFN5_ENST00000554171.1_Missense_Mutation_p.R311M	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	311	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGCAAAGCCAGGGGAGACCCT	0.468										HNSCC(30;0.082)																												uc001wvm.2		NA																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(931-933)AGG>ATG		leucine rich repeat and fibronectin type III							118.0	113.0	114.0					14																	42356760		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356760G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.932G>T	14.37:g.42356760G>T	ENSP00000298119:p.Arg311Met	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.R311M	p.R311M	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2130	+			311			Extracellular (Potential).|Ig-like.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.932G>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334284	0.24253	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.67865	-0.29;-0.29;-0.29	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000023	T	0.55737	0.1939	L	0.28740	0.885	0.42153	D	0.991562	B;B	0.16396	0.008;0.017	B;B	0.26614	0.016;0.071	T	0.52823	-0.8524	10	0.40728	T	0.16	.	12.0469	0.53485	0.0:0.0:0.8277:0.1723	.	311;311	G3V364;Q96NI6	.;LRFN5_HUMAN	M	311	ENSP00000298119:R311M;ENSP00000451897:R311M;ENSP00000451067:R311M	ENSP00000298119:R311M	R	+	2	0	LRFN5	41426510	0.964000	0.33143	0.997000	0.53966	0.998000	0.95712	5.476000	0.66793	2.680000	0.91292	0.563000	0.77884	AGG		0.468	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		42	47	1	0	3.09e-21	4.2e-21	42	47				
FAM179B	23116	broad.mit.edu	37	14	45537659	45537659	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:45537659T>A	ENST00000361577.3	+	17	4837	c.4623T>A	c.(4621-4623)gaT>gaA	p.D1541E	FAM179B_ENST00000361462.2_Missense_Mutation_p.D1594E|FAM179B_ENST00000382233.2_3'UTR	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1541										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GACTTCATGATTCTAATAGTA	0.279																																						uc001wvv.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)	3						c.(4621-4623)GAT>GAA		hypothetical protein LOC23116							56.0	58.0	57.0					14																	45537659		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45537659T>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4623T>A	14.37:g.45537659T>A	ENSP00000355045:p.Asp1541Glu					FAM179B_uc001wvw.2_Missense_Mutation_p.D1594E|FAM179B_uc010anc.2_RNA	p.D1541E	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN			17	4832	+			1541			HEAT 5.		Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.4623T>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.804100	0.70682	.	.	ENSG00000198718	ENST00000361577;ENST00000361462;ENST00000556823	T;T;T	0.71698	-0.59;-0.45;2.36	5.57	1.89	0.25635	Armadillo-like helical (1);Armadillo-type fold (1);	0.049843	0.85682	D	0.000000	T	0.71230	0.3315	M	0.63843	1.955	0.80722	D	1	P;P	0.49358	0.923;0.907	P;P	0.52109	0.69;0.612	T	0.69431	-0.5147	10	0.87932	D	0	-18.6354	5.8508	0.18691	0.0:0.4726:0.0:0.5274	.	1594;1541	G3XAE9;Q9Y4F4	.;F179B_HUMAN	E	1541;1594;5	ENSP00000355045:D1541E;ENSP00000354917:D1594E;ENSP00000450465:D5E	ENSP00000354917:D1594E	D	+	3	2	FAM179B	44607409	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.012000	0.40932	0.403000	0.25479	-0.261000	0.10672	GAT		0.279	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		9	35	0	0	0	0	9	35				
MDGA2	161357	broad.mit.edu	37	14	47389219	47389219	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:47389219C>T	ENST00000399232.2	-	10	2391	c.2027G>A	c.(2026-2028)aGg>aAg	p.R676K	MDGA2_ENST00000357362.3_Missense_Mutation_p.R447K|MDGA2_ENST00000426342.1_Missense_Mutation_p.R447K|MDGA2_ENST00000439988.3_Missense_Mutation_p.R745K	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	676	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCTCACCTGCCTGATGCCCAA	0.413																																						uc001wwj.3		NA																	0				ovary(4)|large_intestine(1)|pancreas(1)	6						c.(2026-2028)AGG>AAG		MAM domain containing 1 isoform 1							105.0	96.0	99.0					14																	47389219		1885	4117	6002	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47389219C>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2027G>A	14.37:g.47389219C>T	ENSP00000382178:p.Arg676Lys					MDGA2_uc001wwi.3_Missense_Mutation_p.R447K|MDGA2_uc010ani.2_Missense_Mutation_p.R236K	p.R676K	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			10	2223	-			676					F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.2027G>A		.	.	.	.	.	.	.	.	.	.	C	14.10	2.435274	0.43224	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.39	5.39	0.77823	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.56097	U	0.000033	T	0.42337	0.1198	L	0.38175	1.15	0.80722	D	1	B;B	0.14012	0.009;0.005	B;B	0.20184	0.028;0.012	T	0.22312	-1.0220	10	0.48119	T	0.1	.	17.0165	0.86421	0.0:1.0:0.0:0.0	.	447;676	F6W3S7;Q7Z553	.;MDGA2_HUMAN	K	676;447;745;447	ENSP00000400011:R676K;ENSP00000405456:R447K;ENSP00000382178:R745K;ENSP00000349925:R447K	ENSP00000349925:R447K	R	-	2	0	MDGA2	46458969	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	4.292000	0.59031	2.699000	0.92147	0.591000	0.81541	AGG		0.413	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		10	27	0	0	0	0	10	27				
SAV1	60485	broad.mit.edu	37	14	51132094	51132094	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:51132094G>A	ENST00000324679.4	-	2	701	c.338C>T	c.(337-339)tCt>tTt	p.S113F	RP11-248J18.2_ENST00000602954.1_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	113					hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					AAATGACTGAGAAGAACCATA	0.388																																						uc001wyg.1		NA																	0				breast(1)	1						c.(337-339)TCT>TTT		WW45 protein							26.0	22.0	24.0					14																	51132094		2200	4275	6475	SO:0001583	missense	60485				hippo signaling cascade	cytoplasm|nucleus	identical protein binding	g.chr14:51132094G>A	AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"""WW domain-containing adaptor 45"""	607203	"""salvador homolog 1 (Drosophila)"""			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.338C>T	14.37:g.51132094G>A	ENSP00000324729:p.Ser113Phe					SAV1_uc001wyh.1_Missense_Mutation_p.S113F	p.S113F	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN			3	499	-	all_epithelial(31;0.000611)|Breast(41;0.0333)		113					A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Missense_Mutation	SNP	ENST00000324679.4	37	c.338C>T	CCDS9701.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302639	0.81136	.	.	ENSG00000151748	ENST00000555720;ENST00000324679;ENST00000535862	T;T	0.54479	0.57;0.65	5.38	5.38	0.77491	.	0.053519	0.85682	D	0.000000	T	0.60470	0.2271	L	0.32530	0.975	0.54753	D	0.999988	D	0.61080	0.989	P	0.59221	0.854	T	0.63422	-0.6641	10	0.66056	D	0.02	-15.5009	18.114	0.89545	0.0:0.0:1.0:0.0	.	113	Q9H4B6	SAV1_HUMAN	F	45;113;80	ENSP00000451492:S45F;ENSP00000324729:S113F	ENSP00000324729:S113F	S	-	2	0	SAV1	50201844	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.289000	0.96061	2.514000	0.84764	0.563000	0.77884	TCT		0.388	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			13	13	0	0	0	0	13	13				
NID2	22795	broad.mit.edu	37	14	52481978	52481978	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:52481978G>T	ENST00000216286.5	-	15	3043	c.3044C>A	c.(3043-3045)cCc>cAc	p.P1015H	NID2_ENST00000541773.1_Missense_Mutation_p.P914H	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1015					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GATGGTCGGGGGCCTCTGGGT	0.582																																						uc001wzo.2		NA																	0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(3043-3045)CCC>CAC		nidogen 2 precursor							29.0	31.0	30.0					14																	52481978		2199	4297	6496	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52481978G>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3044C>A	14.37:g.52481978G>T	ENSP00000216286:p.Pro1015His					NID2_uc010tqs.1_Missense_Mutation_p.P967H|NID2_uc010tqt.1_Missense_Mutation_p.P1015H|NID2_uc001wzp.2_Missense_Mutation_p.P1015H	p.P1015H	NM_007361	NP_031387	Q14112	NID2_HUMAN			15	3278	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1015					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.3044C>A	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732636	0.89482	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.63096	-0.02;-0.02	6.03	6.03	0.97812	.	0.144401	0.64402	D	0.000005	T	0.81039	0.4740	M	0.78049	2.395	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.982;0.999;0.969;0.997	T	0.79720	-0.1685	10	0.49607	T	0.09	.	20.1519	0.98089	0.0:0.0:1.0:0.0	.	609;914;1017;1015	E7EPP3;Q14112-2;Q5CZI2;Q14112	.;.;.;NID2_HUMAN	H	1015;609;914;1017	ENSP00000216286:P1015H;ENSP00000443730:P914H	ENSP00000216286:P1015H	P	-	2	0	NID2	51551728	1.000000	0.71417	0.977000	0.42913	0.873000	0.50193	9.339000	0.96797	2.861000	0.98227	0.655000	0.94253	CCC		0.582	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			20	30	1	0	4.35e-09	5.19e-09	20	30				
NID2	22795	broad.mit.edu	37	14	52509605	52509605	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:52509605G>C	ENST00000216286.5	-	6	1473	c.1474C>G	c.(1474-1476)Cac>Gac	p.H492D	NID2_ENST00000541773.1_Missense_Mutation_p.H439D	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	492	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CATTGTCTGTGGTTGTGTTCA	0.458																																						uc001wzo.2		NA																	0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(1474-1476)CAC>GAC		nidogen 2 precursor							166.0	135.0	145.0					14																	52509605		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52509605G>C	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1474C>G	14.37:g.52509605G>C	ENSP00000216286:p.His492Asp					NID2_uc010tqs.1_Missense_Mutation_p.H492D|NID2_uc010tqt.1_Missense_Mutation_p.H492D|NID2_uc001wzp.2_Missense_Mutation_p.H492D	p.H492D	NM_007361	NP_031387	Q14112	NID2_HUMAN			6	1708	-	Breast(41;0.0639)|all_epithelial(31;0.123)		492			EGF-like 1.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.1474C>G	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086151	0.76642	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.86432	-2.12;-1.59	5.77	5.77	0.91146	Epidermal growth factor-like (1);	0.141275	0.64402	D	0.000004	D	0.89649	0.6776	L	0.39898	1.24	0.51012	D	0.999908	D;D;P	0.76494	0.993;0.999;0.94	D;D;B	0.68621	0.959;0.94;0.402	D	0.83859	0.0267	10	0.08381	T	0.77	.	19.9576	0.97228	0.0:0.0:1.0:0.0	.	439;494;492	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	D	492;439;494	ENSP00000216286:H492D;ENSP00000443730:H439D	ENSP00000216286:H492D	H	-	1	0	NID2	51579355	1.000000	0.71417	0.983000	0.44433	0.540000	0.34992	7.164000	0.77533	2.885000	0.99019	0.655000	0.94253	CAC		0.458	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			30	46	0	0	0	0	30	46				
C14orf37	145407	broad.mit.edu	37	14	58598275	58598275	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:58598275C>A	ENST00000267485.7	-	4	1980	c.1786G>T	c.(1786-1788)Gtt>Ttt	p.V596F	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	596						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GCTGTATTAACACGAGTAATA	0.478																																						uc001xdc.2		NA																	0					0						c.(1786-1788)GTT>TTT		hypothetical protein LOC145407 precursor							92.0	77.0	82.0					14																	58598275		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58598275C>A		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1786G>T	14.37:g.58598275C>A	ENSP00000267485:p.Val596Phe					C14orf37_uc010tro.1_Missense_Mutation_p.V634F|C14orf37_uc001xdd.2_Missense_Mutation_p.V596F|C14orf37_uc001xde.2_Missense_Mutation_p.V596F	p.V596F	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			4	1897	-			596			Extracellular (Potential).		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.1786G>T	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132578	0.56828	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.18502	2.21	5.78	2.55	0.30701	.	1.047850	0.07469	N	0.901897	T	0.24547	0.0595	L	0.57536	1.79	0.09310	N	1	P;D;P;P	0.53151	0.925;0.958;0.925;0.925	P;P;P;P	0.51135	0.487;0.66;0.487;0.487	T	0.17137	-1.0379	10	0.56958	D	0.05	-0.9494	3.2561	0.06832	0.0:0.4744:0.2377:0.2879	.	634;596;596;596	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	F	596;634	ENSP00000267485:V596F	ENSP00000267485:V596F	V	-	1	0	C14orf37	57668028	0.003000	0.15002	0.001000	0.08648	0.004000	0.04260	0.907000	0.28531	0.765000	0.33221	0.650000	0.86243	GTT		0.478	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		28	31	1	0	2.66e-16	3.46e-16	28	31				
DACT1	51339	broad.mit.edu	37	14	59113678	59113678	+	Silent	SNP	C	C	T	rs575793506		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:59113678C>T	ENST00000335867.4	+	4	2361	c.2337C>T	c.(2335-2337)agC>agT	p.S779S	DACT1_ENST00000541264.2_Silent_p.S498S|DACT1_ENST00000395153.3_Silent_p.S742S|DACT1_ENST00000556859.1_Silent_p.S498S			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	779					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CTGAAGAAAGCGGGGGCTTAA	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		15001	0.0		0.0	False		,,,				2504	0.001					uc001xdw.2		NA																	0				large_intestine(2)|lung(2)|ovary(1)	5						c.(2335-2337)AGC>AGT		dapper 1 isoform 1							98.0	102.0	101.0					14																	59113678		2203	4300	6503	SO:0001819	synonymous_variant	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113678C>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2337C>T	14.37:g.59113678C>T						DACT1_uc010trv.1_Silent_p.S498S|DACT1_uc001xdx.2_Silent_p.S742S|DACT1_uc010trw.1_Silent_p.S498S	p.S779S	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	2501	+			779					A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	c.2337C>T	CCDS9736.1																																																																																				0.542	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		25	87	0	0	0	0	25	87				
MPP5	64398	broad.mit.edu	37	14	67768785	67768786	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:67768785_67768786GG>TT	ENST00000261681.4	+	6	1412_1413	c.751_752GG>TT	c.(751-753)GGa>TTa	p.G251L	MPP5_ENST00000555925.1_Missense_Mutation_p.G217L	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	251					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		CCAGTATGGAGGAGAAACTGTA	0.416																																						uc001xjc.2		NA																	0				ovary(1)	1						c.(751-753)GGA>TTA		membrane protein, palmitoylated 5																																				SO:0001583	missense	64398				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding	g.chr14:67768785_67768786GG>TT	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		Exception_encountered	14.37:g.67768785_67768786delinsTT	ENSP00000261681:p.Gly251Leu					MPP5_uc001xjd.2_Missense_Mutation_p.G217L|ATP6V1D_uc001xje.2_Intron	p.G251L	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN		all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)	6	1217_1218	+			251					A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	DNP	ENST00000261681.4	37	c.751_752GG>TT	CCDS9779.1																																																																																				0.416	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		36	36	0	0	0	0	36	36				
RDH12	145226	broad.mit.edu	37	14	68192857	68192857	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:68192857G>A	ENST00000551171.1	+	6	757	c.433G>A	c.(433-435)Gga>Aga	p.G145R	RDH12_ENST00000539142.1_Missense_Mutation_p.G145R|RDH12_ENST00000267502.3_Missense_Mutation_p.G145R	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	145			G -> E (in retinal dystrophy; exhibits a profound loss of catalytic activity). {ECO:0000269|PubMed:16269441}.		photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	intracellular (GO:0005622)|photoreceptor inner segment membrane (GO:0060342)	retinol dehydrogenase activity (GO:0004745)			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	AACCCACCTGGGAGTCAACCA	0.433																																						uc001xjz.3		NA																	0				ovary(1)	1						c.(433-435)GGA>AGA		retinol dehydrogenase 12	Vitamin A(DB00162)						127.0	127.0	127.0					14																	68192857		2203	4300	6503	SO:0001583	missense	145226				photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity	g.chr14:68192857G>A	AK054835	CCDS9787.1	14q24.1	2013-02-14	2006-05-09		ENSG00000139988	ENSG00000139988	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19977	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 2"""	608830	"""retinol dehydrogenase 12 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_152443		Approved	FLJ30273, SDR7C2, LCA13, RP53	uc001xjz.4	Q96NR8		ENST00000551171.1:c.433G>A	14.37:g.68192857G>A	ENSP00000449079:p.Gly145Arg						p.G145R	NM_152443	NP_689656	Q96NR8	RDH12_HUMAN		all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	6	757	+			145		G -> E (in retinal dystrophy; exhibits a profound loss of catalytic activity).			B2RDA2|Q8TAW6	Missense_Mutation	SNP	ENST00000551171.1	37	c.433G>A	CCDS9787.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069315	0.93950	.	.	ENSG00000139988	ENST00000551171;ENST00000267502;ENST00000539142	D;D;D	0.89196	-2.48;-2.48;-2.48	6.04	6.04	0.98038	NAD(P)-binding domain (1);	0.052695	0.85682	D	0.000000	D	0.93324	0.7872	L	0.49256	1.55	0.80722	D	1	D	0.65815	0.995	D	0.74348	0.983	D	0.93090	0.6499	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	145	Q96NR8	RDH12_HUMAN	R	145	ENSP00000449079:G145R;ENSP00000267502:G145R;ENSP00000438715:G145R	ENSP00000267502:G145R	G	+	1	0	RDH12	67262610	1.000000	0.71417	0.739000	0.30968	0.932000	0.56968	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	GGA		0.433	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1			80	90	0	0	0	0	80	90				
COX16	51241	broad.mit.edu	37	14	70795900	70795900	+	Silent	SNP	C	C	T	rs372378281		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:70795900C>T	ENST00000389912.6	-	3	338	c.195G>A	c.(193-195)tcG>tcA	p.S65S	COX16_ENST00000557612.1_5'UTR|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_016468.6	NP_057552.1	Q9P0S2	COX16_HUMAN	COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)	65						integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)				large_intestine(1)|lung(2)	3						CCTCATATTCCGACTCTAAAG	0.294																																						uc001xmb.2		NA																	0					0						c.(193-195)TCG>TCA		COX16 cytochrome c oxidase assembly homolog		C	,,,,	1,4399	2.1+/-5.4	0,1,2199	64.0	69.0	67.0		450,423,351,123,195	-2.0	1.0	14		67	0,8572		0,0,4286	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	COX16,SYNJ2BP-COX16	NM_001202547.2,NM_001202548.2,NM_001202549.2,NM_001204090.1,NM_016468.6	,,,,	0,1,6485	TT,TC,CC		0.0,0.0227,0.0077	,,,,	150/192,141/183,117/159,41/83,65/107	70795900	1,12971	2200	4286	6486	SO:0001819	synonymous_variant	51241					integral to membrane|mitochondrial membrane		g.chr14:70795900C>T	AF151037	CCDS9802.1	14q24.2	2013-05-10	2008-08-14	2008-06-23	ENSG00000133983	ENSG00000133983			20213	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 112"""	C14orf112		11042152, 15596615	Standard	NM_016468		Approved	HSPC203		Q9P0S2	OTTHUMG00000171238	ENST00000389912.6:c.195G>A	14.37:g.70795900C>T							p.S65S	NM_016468	NP_057552	Q9P0S2	COX16_HUMAN			3	335	-			65					A6NDT5|A8K3X8	Silent	SNP	ENST00000389912.6	37	c.195G>A	CCDS9802.1																																																																																				0.294	COX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412470.2	NM_016468		20	26	0	0	0	0	20	26				
RGS6	9628	broad.mit.edu	37	14	72431525	72431525	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:72431525G>A	ENST00000553530.1	+	2	224	c.17G>A	c.(16-18)gGg>gAg	p.G6E	RGS6_ENST00000556437.1_Missense_Mutation_p.G6E|RGS6_ENST00000404301.2_Missense_Mutation_p.G6E|RGS6_ENST00000343854.6_Missense_Mutation_p.G6E|RGS6_ENST00000553525.1_Missense_Mutation_p.G6E|RGS6_ENST00000355512.6_Missense_Mutation_p.G6E|RGS6_ENST00000407322.4_Missense_Mutation_p.G6E|RGS6_ENST00000555571.1_Missense_Mutation_p.G6E|RGS6_ENST00000406236.4_Missense_Mutation_p.G6E|RGS6_ENST00000402788.2_Missense_Mutation_p.G6E	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	6					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAAGGATCCGGGGATCAAAGA	0.463																																					Ovarian(143;1926 2468 21071 48641)	uc001xna.3		NA																	0				upper_aerodigestive_tract(1)|lung(1)|skin(1)	3						c.(16-18)GGG>GAG		regulator of G-protein signalling 6							96.0	97.0	97.0					14																	72431525		2203	4300	6503	SO:0001583	missense	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72431525G>A	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.17G>A	14.37:g.72431525G>A	ENSP00000452331:p.Gly6Glu					RGS6_uc010ttn.1_Missense_Mutation_p.G6E|RGS6_uc001xmx.3_Missense_Mutation_p.G6E|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.G6E	p.G6E	NM_004296	NP_004287	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	2	540	+			6					C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	c.17G>A	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.390717	0.01185	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854	T;T;T;T;T;T;T;T;T;T	0.27720	1.79;1.65;1.65;1.79;1.65;1.8;1.81;1.8;1.65;1.65	5.63	3.65	0.41850	.	0.760060	0.11962	N	0.512604	T	0.17195	0.0413	N	0.08118	0	0.25354	N	0.988846	B;B	0.25441	0.126;0.0	B;B	0.21360	0.034;0.001	T	0.15321	-1.0441	10	0.28530	T	0.3	-7.204	13.1962	0.59740	0.0:0.3051:0.6949:0.0	.	11;6	Q59FJ8;P49758	.;RGS6_HUMAN	E	6	ENSP00000451030:G6E;ENSP00000450936:G6E;ENSP00000452331:G6E;ENSP00000451855:G6E;ENSP00000347699:G6E;ENSP00000385243:G6E;ENSP00000384218:G6E;ENSP00000384612:G6E;ENSP00000383953:G6E;ENSP00000341199:G6E	ENSP00000341199:G6E	G	+	2	0	RGS6	71501278	1.000000	0.71417	0.991000	0.47740	0.200000	0.23975	1.405000	0.34635	1.335000	0.45486	0.591000	0.81541	GGG		0.463	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			27	76	0	0	0	0	27	76				
NRXN3	9369	broad.mit.edu	37	14	79181346	79181346	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:79181346G>T	ENST00000554719.1	+	5	1280	c.789G>T	c.(787-789)aaG>aaT	p.K263N	NRXN3_ENST00000335750.5_Missense_Mutation_p.K263N	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGGGTGTCAAGTCCTCCTGTT	0.547																																						uc001xun.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(787-789)AAG>AAT		neurexin 3 isoform 1 precursor							73.0	62.0	65.0					14																	79181346		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79181346G>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.789G>T	14.37:g.79181346G>T	ENSP00000451648:p.Lys263Asn					NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.K397N	p.K263N	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	5	1280	+		Renal(4;0.00876)	636			Extracellular (Potential).|Laminin G-like 3.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.789G>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129256	0.77549	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.76448	-1.02;-1.02	5.91	5.91	0.95273	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.099815	0.64402	D	0.000002	D	0.87067	0.6085	.	.	.	0.54753	D	0.999985	D;D	0.76494	0.999;0.998	D;D	0.79784	0.993;0.91	D	0.86672	0.1911	8	.	.	.	.	14.4523	0.67394	0.0699:0.0:0.9301:0.0	.	636;263	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	N	636;634;263;263	ENSP00000451648:K263N;ENSP00000338349:K263N	.	K	+	3	2	NRXN3	78251099	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.444000	0.52914	2.799000	0.96334	0.650000	0.86243	AAG		0.547	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		29	21	1	0	1.07e-11	1.32e-11	29	21				
KCNK10	54207	broad.mit.edu	37	14	88707125	88707125	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:88707125C>A	ENST00000340700.5	-	3	878	c.427G>T	c.(427-429)Gga>Tga	p.G143*	KCNK10_ENST00000319231.5_Nonsense_Mutation_p.G148*|KCNK10_ENST00000312350.5_Nonsense_Mutation_p.G148*	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	143					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GAAGAGTTTCCTATTGGACTG	0.418																																						uc001xwo.2		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(427-429)GGA>TGA		potassium channel, subfamily K, member 10							109.0	96.0	100.0					14																	88707125		2203	4300	6503	SO:0001587	stop_gained	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88707125C>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.427G>T	14.37:g.88707125C>A	ENSP00000343104:p.Gly143*					KCNK10_uc001xwm.2_Nonsense_Mutation_p.G148*|KCNK10_uc001xwn.2_Nonsense_Mutation_p.G148*	p.G143*	NM_021161	NP_066984	P57789	KCNKA_HUMAN			3	884	-			143					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Nonsense_Mutation	SNP	ENST00000340700.5	37	c.427G>T	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583722	0.86748	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231;ENST00000556282	.	.	.	5.91	5.91	0.95273	.	0.098312	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.9007	0.96985	0.0:1.0:0.0:0.0	.	.	.	.	X	143;148;148;131	.	ENSP00000310568:G148X	G	-	1	0	KCNK10	87776878	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	5.710000	0.68392	2.791000	0.96007	0.655000	0.94253	GGA		0.418	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		28	87	1	0	2.8e-10	3.42e-10	28	87				
CCDC88C	440193	broad.mit.edu	37	14	91739649	91739649	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:91739649G>A	ENST00000389857.6	-	30	5493	c.5407C>T	c.(5407-5409)Cgg>Tgg	p.R1803W	CCDC88C_ENST00000331194.7_Missense_Mutation_p.R327W	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1803				Missing (in Ref. 3; AAH35914). {ECO:0000305}.	protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGAAGGCCCGGCTCAAGGAG	0.697																																						uc010aty.2		NA																	0				ovary(3)	3						c.(5407-5409)CGG>TGG		DVL-binding protein DAPLE							6.0	6.0	6.0					14																	91739649		1900	4092	5992	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91739649G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.5407C>T	14.37:g.91739649G>A	ENSP00000374507:p.Arg1803Trp					CCDC88C_uc001xzj.2_Missense_Mutation_p.R327W|CCDC88C_uc001xzi.2_Missense_Mutation_p.R253W	p.R1803W	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN			30	5506	-		all_cancers(154;0.0468)	1803	Missing (in Ref. 3; AAH35914).				Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.5407C>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311467	0.60414	.	.	ENSG00000015133	ENST00000389857;ENST00000331194	T;T	0.76709	0.69;-1.04	5.37	2.07	0.26955	.	0.000000	0.48286	U	0.000186	D	0.85509	0.5713	M	0.66939	2.045	0.53005	D	0.999968	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.86406	0.1745	10	0.87932	D	0	-32.3626	13.8296	0.63373	0.0:0.0:0.4303:0.5697	.	1803;327;253	Q9P219;Q9P219-2;Q9P219-3	DAPLE_HUMAN;.;.	W	1803;327	ENSP00000374507:R1803W;ENSP00000330332:R327W	ENSP00000330332:R327W	R	-	1	2	CCDC88C	90809402	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	1.214000	0.32419	0.566000	0.29273	0.467000	0.42956	CGG		0.697	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		3	7	0	0	0	0	3	7				
FAM181A	90050	broad.mit.edu	37	14	94391643	94391643	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:94391643C>A	ENST00000267594.5	+	2	333	c.26C>A	c.(25-27)tCt>tAt	p.S9Y	FAM181A_ENST00000557719.1_Intron|FAM181A_ENST00000556222.1_5'Flank|FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557000.2_5'Flank	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	9										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						AGAAGATCTTCTGGAGAGAGG	0.557																																						uc001ybz.1		NA																	0					0						c.(25-27)TCT>TAT		hypothetical protein LOC90050							77.0	75.0	76.0					14																	94391643		2203	4300	6503	SO:0001583	missense	90050							g.chr14:94391643C>A	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.26C>A	14.37:g.94391643C>A	ENSP00000267594:p.Ser9Tyr					C14orf86_uc001yby.2_Intron|FAM181A_uc010aus.1_5'Flank|FAM181A_uc001yca.1_5'Flank	p.S9Y	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN			2	333	+			9					B2RD39|Q96GY1	Missense_Mutation	SNP	ENST00000267594.5	37	c.26C>A	CCDS9914.1	.	.	.	.	.	.	.	.	.	.	C	7.949	0.744476	0.15710	.	.	ENSG00000140067	ENST00000267594	T	0.35421	1.31	2.65	-0.601	0.11638	.	.	.	.	.	T	0.15392	0.0371	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.21552	-1.0242	9	0.87932	D	0	.	1.4162	0.02302	0.217:0.4343:0.2125:0.1362	.	9	Q8N9Y4	F181A_HUMAN	Y	9	ENSP00000267594:S9Y	ENSP00000267594:S9Y	S	+	2	0	FAM181A	93461396	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.001000	0.13038	-0.141000	0.11374	-0.305000	0.09177	TCT		0.557	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344		18	45	1	0	8.34e-07	9.52e-07	18	45				
DLK1	8788	broad.mit.edu	37	14	101198399	101198399	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:101198399G>A	ENST00000341267.4	+	4	525	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	DLK1_ENST00000331224.6_Missense_Mutation_p.A95T	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	95	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)				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)				CTGCTCCTCGGCCCCCTGTGC	0.597																																						uc001yhs.3		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(283-285)GCC>ACC		delta-like 1 homolog precursor							60.0	58.0	59.0					14																	101198399		2203	4300	6503	SO:0001583	missense	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101198399G>A	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.283G>A	14.37:g.101198399G>A	ENSP00000340292:p.Ala95Thr					DLK1_uc001yhu.3_Missense_Mutation_p.A95T	p.A95T	NM_003836	NP_003827	P80370	DLK1_HUMAN			4	436	+		Melanoma(154;0.155)	95			Extracellular (Potential).|EGF-like 3.		P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	c.283G>A	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	A	0.219	-1.030521	0.02045	.	.	ENSG00000185559	ENST00000392848;ENST00000341267;ENST00000331224	D;D;T	0.91894	-2.9;-2.93;3.98	4.55	0.766	0.18476	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.543507	0.18702	N	0.133556	T	0.80854	0.4703	N	0.16037	0.36	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.10450	0.002;0.005	T	0.62632	-0.6813	10	0.11485	T	0.65	.	8.5104	0.33213	0.6521:0.0:0.3479:0.0	.	95;95	P80370-2;P80370	.;DLK1_HUMAN	T	95	ENSP00000376589:A95T;ENSP00000340292:A95T;ENSP00000331081:A95T	ENSP00000331081:A95T	A	+	1	0	DLK1	100268152	0.001000	0.12720	0.011000	0.14972	0.010000	0.07245	1.619000	0.36965	-0.437000	0.07243	-1.044000	0.02363	GCC		0.597	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			22	27	0	0	0	0	22	27				
CDCA4	55038	broad.mit.edu	37	14	105477874	105477874	+	Silent	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:105477874T>A	ENST00000336219.3	-	2	548	c.393A>T	c.(391-393)ccA>ccT	p.P131P	CDCA4_ENST00000392590.3_Silent_p.P131P	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	131						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		CTGAGGTGACTGGGCAAAGGT	0.607																																						uc001yqa.2		NA																	0				ovary(1)	1						c.(391-393)CCA>CCT		cell division cycle associated 4							88.0	73.0	78.0					14																	105477874		2203	4300	6503	SO:0001819	synonymous_variant	55038					nucleus		g.chr14:105477874T>A	BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"""hematopoietic progenitor protein"""	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.393A>T	14.37:g.105477874T>A						CDCA4_uc001yqb.2_Silent_p.P131P	p.P131P	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)	2	489	-		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	131					Q8TB18|Q9NWK7	Silent	SNP	ENST00000336219.3	37	c.393A>T	CCDS9996.1																																																																																				0.607	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410311.1	NM_145701		20	44	0	0	0	0	20	44				
MAGEL2	54551	broad.mit.edu	37	15	23890312	23890312	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:23890312C>A	ENST00000532292.1	-	1	863	c.769G>T	c.(769-771)Gct>Tct	p.A257S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	140					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGGGGGGCAGCTGCTGTAGCC	0.627																																						uc001ywj.3		NA																	0					0						c.(769-771)GCT>TCT		MAGE-like protein 2							39.0	47.0	45.0					15																	23890312		2145	4268	6413	SO:0001583	missense	54551							g.chr15:23890312C>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.769G>T	15.37:g.23890312C>A	ENSP00000433433:p.Ala257Ser						p.A257S	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	864	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.769G>T		.	.	.	.	.	.	.	.	.	.	C	12.90	2.077037	0.36662	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	T	0.32912	0.0845	N	0.24115	0.695	0.21020	N	0.999804	.	.	.	.	.	.	T	0.12915	-1.0529	5	.	.	.	.	10.3959	0.44201	0.0:0.8016:0.1984:0.0	.	.	.	.	H	288	.	.	Q	-	3	2	MAGEL2	21441405	0.001000	0.12720	0.486000	0.27416	0.955000	0.61496	-0.179000	0.09768	2.625000	0.88918	0.650000	0.86243	CAG		0.627	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		17	53	1	0	1.03e-11	1.28e-11	17	53				
NPAP1	23742	broad.mit.edu	37	15	24921822	24921822	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:24921822T>C	ENST00000329468.2	+	1	1282	c.808T>C	c.(808-810)Tcc>Ccc	p.S270P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	270					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CGTTGGCTGCTCCCTGCTGCA	0.637																																						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(808-810)TCC>CCC		hypothetical protein LOC23742							35.0	38.0	37.0					15																	24921822		2201	4294	6495	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921822T>C	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.808T>C	15.37:g.24921822T>C	ENSP00000333735:p.Ser270Pro						p.S270P	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1282	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	270						Missense_Mutation	SNP	ENST00000329468.2	37	c.808T>C	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	8.817	0.936715	0.18206	.	.	ENSG00000185823	ENST00000329468	T	0.15487	2.42	1.91	-3.81	0.04294	.	2.278830	0.02049	N	0.049910	T	0.23965	0.0580	L	0.35854	1.095	0.09310	N	1	D	0.71674	0.998	D	0.67725	0.953	T	0.28586	-1.0039	10	0.44086	T	0.13	.	0.5276	0.00623	0.2083:0.3253:0.2102:0.2561	.	270	Q9NZP6	CO002_HUMAN	P	270	ENSP00000333735:S270P	ENSP00000333735:S270P	S	+	1	0	C15orf2	22472915	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.219000	0.02973	-1.320000	0.02283	0.358000	0.22013	TCC		0.637	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		22	17	0	0	0	0	22	17				
NPAP1	23742	broad.mit.edu	37	15	24922763	24922763	+	Silent	SNP	A	A	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:24922763A>G	ENST00000329468.2	+	1	2223	c.1749A>G	c.(1747-1749)ccA>ccG	p.P583P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	583					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CTACTGCCCCATCTCAGGTTG	0.488																																						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1747-1749)CCA>CCG		hypothetical protein LOC23742							103.0	98.0	100.0					15																	24922763		2203	4300	6503	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922763A>G	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1749A>G	15.37:g.24922763A>G							p.P583P	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	2223	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	583						Silent	SNP	ENST00000329468.2	37	c.1749A>G	CCDS10015.1																																																																																				0.488	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		27	70	0	0	0	0	27	70				
GABRA5	2558	broad.mit.edu	37	15	27159966	27159966	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:27159966G>T	ENST00000335625.5	+	7	1402	c.514G>T	c.(514-516)Gag>Tag	p.E172*	GABRA5_ENST00000355395.5_Nonsense_Mutation_p.E172*|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_3'UTR|GABRA5_ENST00000400081.3_Nonsense_Mutation_p.E172*	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	172					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CATCTCTGCAGAGTGCCCCAT	0.478																																						uc001zbd.1		NA																	0				ovary(1)	1						c.(514-516)GAG>TAG		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						77.0	78.0	78.0					15																	27159966		1972	4172	6144	SO:0001587	stop_gained	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27159966G>T		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.514G>T	15.37:g.27159966G>T	ENSP00000335592:p.Glu172*					GABRB3_uc001zbb.2_Intron	p.E172*	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	8	853	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	172			Extracellular (Potential).		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Nonsense_Mutation	SNP	ENST00000335625.5	37	c.514G>T	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	38	6.646223	0.97730	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.9414	0.86219	0.0:0.0:1.0:0.0	.	.	.	.	X	172;172;140;172	.	ENSP00000335592:E172X	E	+	1	0	GABRA5	24742712	1.000000	0.71417	0.981000	0.43875	0.889000	0.51656	8.693000	0.91288	2.588000	0.87417	0.655000	0.94253	GAG		0.478	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			7	41	1	0	0.000157383	0.000169877	7	41				
OCA2	4948	broad.mit.edu	37	15	28090152	28090152	+	Silent	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:28090152C>G	ENST00000354638.3	-	23	2540	c.2385G>C	c.(2383-2385)ggG>ggC	p.G795G	OCA2_ENST00000353809.5_Silent_p.G771G	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	795			G -> R (in OCA2). {ECO:0000269|PubMed:10987646}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTTCTGCAATCCCTGCACACA	0.403									Oculocutaneous Albinism																													uc001zbh.3		NA																	0				ovary(3)|breast(1)|pancreas(1)	5						c.(2383-2385)GGG>GGC		oculocutaneous albinism II							68.0	67.0	67.0					15																	28090152		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28090152C>G		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2385G>C	15.37:g.28090152C>G						OCA2_uc010ayv.2_Silent_p.G771G	p.G795G	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	23	2495	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	795		G -> R (in OCA2).	Extracellular (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.2385G>C	CCDS10020.1																																																																																				0.403	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		10	59	0	0	0	0	10	59				
SLC24A5	283652	broad.mit.edu	37	15	48434324	48434324	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:48434324G>T	ENST00000341459.3	+	9	1352	c.1279G>T	c.(1279-1281)Gga>Tga	p.G427*	MYEF2_ENST00000267836.6_3'UTR|SLC24A5_ENST00000449382.2_Nonsense_Mutation_p.G367*|MYEF2_ENST00000324324.7_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	427					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		ATTTATAAATGGATCAGCTCC	0.363																																						uc001zwe.2		NA																	0					0						c.(1279-1281)GGA>TGA		solute carrier family 24, member 5 precursor							194.0	205.0	202.0					15																	48434324		2198	4297	6495	SO:0001587	stop_gained	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48434324G>T	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.1279G>T	15.37:g.48434324G>T	ENSP00000341550:p.Gly427*					SLC24A5_uc010bel.2_Nonsense_Mutation_p.G367*|MYEF2_uc001zwg.3_3'UTR|MYEF2_uc001zwh.3_3'UTR|MYEF2_uc001zwi.3_3'UTR|MYEF2_uc001zwj.3_3'UTR|SLC24A5_uc001zwk.2_Nonsense_Mutation_p.G58*	p.G427*	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	9	1352	+		all_lung(180;0.00217)	427			Cytoplasmic (Potential).		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Nonsense_Mutation	SNP	ENST00000341459.3	37	c.1279G>T	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728442	0.48833	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	.	.	.	5.87	-8.78	0.00824	.	0.839750	0.11235	N	0.585184	.	.	.	.	.	.	0.21719	N	0.999577	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	5.9405	0.19189	0.3505:0.4674:0.0948:0.0873	.	.	.	.	X	427;367	.	ENSP00000341550:G427X	G	+	1	0	SLC24A5	46221616	0.002000	0.14202	0.018000	0.16275	0.841000	0.47740	-0.172000	0.09868	-1.169000	0.02772	0.655000	0.94253	GGA		0.363	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		53	62	1	0	5.14e-22	7e-22	53	62				
FBN1	2200	broad.mit.edu	37	15	48776017	48776017	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:48776017A>G	ENST00000316623.5	-	31	4291	c.3836T>C	c.(3835-3837)gTa>gCa	p.V1279A		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1279	EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTGCTTACCTACACAAGTCTT	0.383																																						uc001zwx.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(3835-3837)GTA>GCA		fibrillin 1 precursor							126.0	102.0	110.0					15																	48776017		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48776017A>G	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3836T>C	15.37:g.48776017A>G	ENSP00000325527:p.Val1279Ala						p.V1279A	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	31	4164	-		all_lung(180;0.00279)	1279			EGF-like 20; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.3836T>C	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.553837	0.65425	.	.	ENSG00000166147	ENST00000316623	D	0.87966	-2.32	6.17	6.17	0.99709	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.066825	0.64402	D	0.000006	D	0.86326	0.5906	M	0.69463	2.115	0.80722	D	1	B	0.26195	0.144	B	0.21546	0.035	T	0.83005	-0.0175	10	0.41790	T	0.15	.	16.4837	0.84171	1.0:0.0:0.0:0.0	.	1279	P35555	FBN1_HUMAN	A	1279	ENSP00000325527:V1279A	ENSP00000325527:V1279A	V	-	2	0	FBN1	46563309	1.000000	0.71417	0.986000	0.45419	0.936000	0.57629	7.576000	0.82467	2.371000	0.80710	0.533000	0.62120	GTA		0.383	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			14	45	0	0	0	0	14	45				
FAM227B	196951	broad.mit.edu	37	15	49833958	49833958	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:49833958C>A	ENST00000299338.6	-	10	1096	c.793G>T	c.(793-795)Gaa>Taa	p.E265*	FAM227B_ENST00000561064.1_Nonsense_Mutation_p.E231*	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	265																	GGAAATGCTTCATGGAACGTT	0.264																																						uc001zxl.2		NA																	0				ovary(1)	1						c.(793-795)GAA>TAA		hypothetical protein LOC196951							79.0	83.0	82.0					15																	49833958		2196	4289	6485	SO:0001587	stop_gained	196951							g.chr15:49833958C>A		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.793G>T	15.37:g.49833958C>A	ENSP00000299338:p.Glu265*					C15orf33_uc001zxm.2_Nonsense_Mutation_p.E231*	p.E265*	NM_152647	NP_689860	Q96M60	CO033_HUMAN		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)	10	1087	-		all_lung(180;0.00187)	265					Q86WS2	Nonsense_Mutation	SNP	ENST00000299338.6	37	c.793G>T	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	C	38	7.238910	0.98157	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	5.7	3.83	0.44106	.	0.108144	0.41097	D	0.000947	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.5209	11.0633	0.47961	0.0:0.8487:0.0:0.1513	.	.	.	.	X	265;231	.	ENSP00000299338:E265X	E	-	1	0	C15orf33	47621250	0.999000	0.42202	0.999000	0.59377	0.843000	0.47879	1.855000	0.39378	0.767000	0.33267	0.643000	0.83706	GAA		0.264	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		24	95	1	0	1.18e-12	1.48e-12	24	95				
FAM227B	196951	broad.mit.edu	37	15	49868948	49868948	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:49868948T>C	ENST00000299338.6	-	7	839	c.536A>G	c.(535-537)cAt>cGt	p.H179R	FAM227B_ENST00000561064.1_Missense_Mutation_p.H179R|FAM227B_ENST00000558594.1_3'UTR	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	179																	ATCAAAATTATGGGCTTTTAA	0.299																																						uc001zxl.2		NA																	0				ovary(1)	1						c.(535-537)CAT>CGT		hypothetical protein LOC196951							31.0	34.0	33.0					15																	49868948		2196	4292	6488	SO:0001583	missense	196951							g.chr15:49868948T>C		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.536A>G	15.37:g.49868948T>C	ENSP00000299338:p.His179Arg					C15orf33_uc001zxm.2_Missense_Mutation_p.H179R	p.H179R	NM_152647	NP_689860	Q96M60	CO033_HUMAN		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)	7	830	-		all_lung(180;0.00187)	179					Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	c.536A>G	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.434937	0.25813	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.88	1.23	0.21249	.	0.504438	0.18530	N	0.138503	T	0.25121	0.0610	L	0.50919	1.6	0.09310	N	0.999999	B;P	0.39311	0.009;0.667	B;B	0.35727	0.011;0.209	T	0.13575	-1.0504	9	0.46703	T	0.11	-21.7553	3.1636	0.06528	0.175:0.1912:0.0:0.6338	.	179;179	Q96M60-2;Q96M60	.;CO033_HUMAN	R	179	.	ENSP00000299338:H179R	H	-	2	0	C15orf33	47656240	0.880000	0.30214	0.098000	0.21074	0.930000	0.56654	1.770000	0.38532	0.099000	0.17552	0.528000	0.53228	CAT		0.299	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		23	10	0	0	0	0	23	10				
VPS13C	54832	broad.mit.edu	37	15	62182498	62182498	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:62182498G>A	ENST00000261517.5	-	67	9280	c.9207C>T	c.(9205-9207)gcC>gcT	p.A3069A	VPS13C_ENST00000395896.4_Silent_p.A3069A|VPS13C_ENST00000395898.3_Silent_p.A3026A|VPS13C_ENST00000249837.3_Silent_p.A3026A	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGGAAACCAAGGCAACATCAT	0.438																																						uc002agz.2		NA																	0				ovary(2)	2						c.(9205-9207)GCC>GCT		vacuolar protein sorting 13C protein isoform 2A							102.0	88.0	93.0					15																	62182498		2203	4300	6503	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62182498G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9207C>T	15.37:g.62182498G>A						VPS13C_uc002aha.2_Silent_p.A3026A|VPS13C_uc002ahb.1_Silent_p.A3069A|VPS13C_uc002ahc.1_Silent_p.A3026A	p.A3069A	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			67	9281	-			3069						Silent	SNP	ENST00000261517.5	37	c.9207C>T	CCDS32257.1																																																																																				0.438	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		10	55	0	0	0	0	10	55				
DENND4A	10260	broad.mit.edu	37	15	65968863	65968863	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:65968863G>A	ENST00000431932.2	-	23	4365	c.4157C>T	c.(4156-4158)tCt>tTt	p.S1386F	DENND4A_ENST00000443035.3_Missense_Mutation_p.S1429F	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1386					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GGTCTCTTGAGAGGAGATAGG	0.458																																						uc002aph.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(4156-4158)TCT>TTT		DENN/MADD domain containing 4A isoform 2							109.0	102.0	104.0					15																	65968863		1881	4099	5980	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65968863G>A	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4157C>T	15.37:g.65968863G>A	ENSP00000396830:p.Ser1386Phe					DENND4A_uc002api.2_Missense_Mutation_p.S1429F	p.S1386F	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN			23	4535	-			1386					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.4157C>T	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395746	0.25205	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.05319	3.46;3.47	5.44	3.54	0.40534	.	0.272881	0.22973	N	0.053417	T	0.04497	0.0123	N	0.22421	0.69	0.36618	D	0.875606	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.25187	-1.0139	10	0.62326	D	0.03	.	5.6533	0.17629	0.2095:0.1544:0.6361:0.0	.	1429;1386	E7EPL3;Q7Z401	.;MYCPP_HUMAN	F	1429;1386	ENSP00000391167:S1429F;ENSP00000396830:S1386F	ENSP00000396830:S1386F	S	-	2	0	DENND4A	63755917	1.000000	0.71417	0.998000	0.56505	0.413000	0.31143	3.542000	0.53625	1.295000	0.44724	0.655000	0.94253	TCT		0.458	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		20	13	0	0	0	0	20	13				
CEMIP	57214	broad.mit.edu	37	15	81241181	81241181	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:81241181C>G	ENST00000394685.3	+	30	4421	c.4002C>G	c.(4000-4002)atC>atG	p.I1334M	MESDC2_ENST00000560244.1_5'UTR|KIAA1199_ENST00000356249.5_Missense_Mutation_p.I1334M|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.I1334M			Q8WUJ3	CEMIP_HUMAN		1334					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCCGGCCCATCTGGGTGACAC	0.532																																						uc002bfw.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(4000-4002)ATC>ATG		KIAA1199 precursor							168.0	148.0	155.0					15																	81241181		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81241181C>G																												ENST00000394685.3:c.4002C>G	15.37:g.81241181C>G	ENSP00000378177:p.Ile1334Met					KIAA1199_uc010unn.1_Missense_Mutation_p.I1334M|MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA	p.I1334M	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN			29	4262	+			1334					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.4002C>G	CCDS10315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.72|12.72	2.023388|2.023388	0.35701|0.35701	.|.	.|.	ENSG00000103888|ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249|ENST00000394683	T;T;T|.	0.64991|.	-0.13;-0.13;-0.13|.	5.35|5.35	0.842|0.842	0.18927|0.18927	.|.	1.175530|.	0.06088|.	N|.	0.663091|.	T|T	0.43033|0.43033	0.1229|0.1229	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	B|.	0.30709|.	0.291|.	B|.	0.22386|.	0.039|.	T|T	0.37957|0.37957	-0.9683|-0.9683	10|6	0.62326|0.87932	D|D	0.03|0	-2.9977|-2.9977	7.9661|7.9661	0.30100|0.30100	0.0:0.4873:0.3717:0.141|0.0:0.4873:0.3717:0.141	.|.	1334|.	Q8WUJ3|.	K1199_HUMAN|.	M|C	1334|992	ENSP00000220244:I1334M;ENSP00000378177:I1334M;ENSP00000348583:I1334M|.	ENSP00000220244:I1334M|ENSP00000378175:S992C	I|S	+|+	3|2	3|0	KIAA1199|KIAA1199	79028236|79028236	0.710000|0.710000	0.27896|0.27896	0.512000|0.512000	0.27736|0.27736	0.943000|0.943000	0.58893|0.58893	0.654000|0.654000	0.24918|0.24918	0.285000|0.285000	0.22329|0.22329	-0.142000|-0.142000	0.14014|0.14014	ATC|TCT		0.532	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			44	118	0	0	0	0	44	118				
NTRK3	4916	broad.mit.edu	37	15	88420304	88420304	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:88420304G>A	ENST00000360948.2	-	19	2543	c.2382C>T	c.(2380-2382)gtC>gtT	p.V794V	NTRK3_ENST00000557856.1_Silent_p.V772V|NTRK3_ENST00000357724.2_Silent_p.V786V|NTRK3_ENST00000355254.2_Silent_p.V780V|NTRK3_ENST00000394480.2_Silent_p.V780V	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	794	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTTTGGGGCAGACTCGGGGCC	0.522			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1		NA		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	0				soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(2380-2382)GTC>GTT		neurotrophic tyrosine kinase, receptor, type 3							91.0	77.0	82.0					15																	88420304		2201	4299	6500	SO:0001819	synonymous_variant	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88420304G>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2382C>T	15.37:g.88420304G>A		TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Silent_p.V772V|NTRK3_uc002bmf.1_Silent_p.V780V	p.V794V	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		19	2544	-			794			Cytoplasmic (Potential).|Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	c.2382C>T	CCDS32322.1																																																																																				0.522	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				7	42	0	0	0	0	7	42				
ACAN	176	broad.mit.edu	37	15	89382097	89382097	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:89382097G>T	ENST00000561243.1	+	2	274	c.274G>T	c.(274-276)Ggg>Tgg	p.G92W	ACAN_ENST00000439576.2_Missense_Mutation_p.G92W|ACAN_ENST00000352105.7_Missense_Mutation_p.G92W|ACAN_ENST00000559004.1_Missense_Mutation_p.G92W|ACAN_ENST00000558207.1_Missense_Mutation_p.G92W			P16112	PGCA_HUMAN	aggrecan	92	G1-A.|Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCCACTGAAGGGCGCGTGCG	0.632																																						uc010upo.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(274-276)GGG>TGG		aggrecan isoform 2 precursor							127.0	149.0	142.0					15																	89382097		2132	4260	6392	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89382097G>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.274G>T	15.37:g.89382097G>T	ENSP00000453342:p.Gly92Trp					ACAN_uc002bmx.2_Missense_Mutation_p.G92W|ACAN_uc010upp.1_Missense_Mutation_p.G92W|ACAN_uc002bna.2_RNA	p.G92W	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		3	648	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		92					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.274G>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284110	0.59867	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.67523	-0.27;-0.27	5.36	5.36	0.76844	.	.	.	.	.	D	0.83727	0.5317	M	0.83953	2.67	0.50313	D	0.999863	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.85792	0.1368	9	0.87932	D	0	-23.5142	18.4414	0.90667	0.0:0.0:1.0:0.0	.	92;92;92	E7ENV9;E7EX88;Q6PID9	.;.;.	W	92	ENSP00000387356:G92W;ENSP00000341615:G92W	ENSP00000268134:G92W	G	+	1	0	ACAN	87183101	1.000000	0.71417	0.480000	0.27341	0.917000	0.54804	6.622000	0.74233	2.689000	0.91719	0.591000	0.81541	GGG		0.632	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		7	86	1	0	1.07e-07	1.25e-07	7	86				
FANCI	55215	broad.mit.edu	37	15	89804006	89804006	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:89804006C>G	ENST00000310775.7	+	4	306	c.220C>G	c.(220-222)Cag>Gag	p.Q74E	FANCI_ENST00000567996.1_Missense_Mutation_p.Q74E|FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.Q74E	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	74					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTGTTGTATCCAGTTGGTGGA	0.423								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc010bnp.1		NA																	0				ovary(2)	2						c.(220-222)CAG>GAG	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group I isoform							124.0	116.0	119.0					15																	89804006		2200	4299	6499	SO:0001583	missense	55215	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89804006C>G	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.220C>G	15.37:g.89804006C>G	ENSP00000310842:p.Gln74Glu					FANCI_uc002bnm.1_Missense_Mutation_p.Q74E|FANCI_uc002bnn.1_RNA|FANCI_uc002bno.2_Missense_Mutation_p.Q74E|FANCI_uc002bnp.1_5'Flank	p.Q74E	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN			4	310	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		74					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.220C>G	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817688	0.32145	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.41758	0.99;0.99;0.99	5.43	5.43	0.79202	.	0.259771	0.31020	N	0.008414	T	0.33411	0.0862	L	0.44542	1.39	0.80722	D	1	B;B	0.20459	0.011;0.045	B;B	0.17722	0.012;0.019	T	0.11867	-1.0570	10	0.08179	T	0.78	-4.4654	14.5043	0.67743	0.0:0.9273:0.0:0.0727	.	74;74	Q9NVI1;Q9NVI1-1	FANCI_HUMAN;.	E	74	ENSP00000300027:Q74E;ENSP00000310842:Q74E;ENSP00000413249:Q74E	ENSP00000300027:Q74E	Q	+	1	0	FANCI	87605010	0.565000	0.26610	0.996000	0.52242	0.976000	0.68499	4.119000	0.57891	2.534000	0.85438	0.655000	0.94253	CAG		0.423	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		16	83	0	0	0	0	16	83				
RHCG	51458	broad.mit.edu	37	15	90020344	90020344	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:90020344C>T	ENST00000268122.4	-	8	1274	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	RHCG_ENST00000544600.1_Silent_p.L402L	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	402					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GGGCCATGGCCAGGGTCACCA	0.567																																						uc002bnz.2		NA																	0				kidney(1)	1						c.(1204-1206)CTG>CTA		Rh family, C glycoprotein							111.0	104.0	106.0					15																	90020344		2200	4299	6499	SO:0001819	synonymous_variant	51458				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr15:90020344C>T	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.1206G>A	15.37:g.90020344C>T						RHCG_uc002bny.2_Silent_p.L173L|RHCG_uc002boa.2_RNA	p.L402L	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN			8	1230	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		402			Helical; (Potential).		A8K4D4|Q6X3Y4	Silent	SNP	ENST00000268122.4	37	c.1206G>A	CCDS10351.1																																																																																				0.567	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		27	88	0	0	0	0	27	88				
PEX11A	8800	broad.mit.edu	37	15	90229763	90229763	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:90229763G>A	ENST00000300056.3	-	2	220	c.71C>T	c.(70-72)aCa>aTa	p.T24I	PEX11A_ENST00000561257.1_Missense_Mutation_p.T24I|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561224.1_Missense_Mutation_p.T24I|PEX11A_ENST00000559170.1_Intron	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	24					brown fat cell differentiation (GO:0050873)|cellular lipid metabolic process (GO:0044255)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CAACATGCATGTGTACTGAGT	0.378																																						uc002boi.2		NA																	0					0						c.(70-72)ACA>ATA		peroxisomal biogenesis factor 11 alpha							142.0	133.0	136.0					15																	90229763		2200	4299	6499	SO:0001583	missense	8800				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane		g.chr15:90229763G>A	AF093668	CCDS10354.1, CCDS61751.1	15q	2008-08-26	2008-08-26		ENSG00000166821	ENSG00000166821			8852	protein-coding gene	gene with protein product		603866	"""peroxisomal biogenesis factor 11A"""			9792670	Standard	NM_003847		Approved	PEX11-ALPHA, MGC119947, MGC138534	uc002boi.4	O75192	OTTHUMG00000149809	ENST00000300056.3:c.71C>T	15.37:g.90229763G>A	ENSP00000300056:p.Thr24Ile					PEX11A_uc010upy.1_Intron	p.T24I	NM_003847	NP_003838	O75192	PX11A_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		2	166	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		24			Cytoplasmic (Potential).		B4DV88	Missense_Mutation	SNP	ENST00000300056.3	37	c.71C>T	CCDS10354.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916186	0.73098	.	.	ENSG00000166821	ENST00000300056	T	0.41758	0.99	5.84	5.84	0.93424	.	0.096296	0.85682	D	0.000000	T	0.52533	0.1740	M	0.67953	2.075	0.80722	D	1	D	0.54772	0.968	P	0.49999	0.628	T	0.42137	-0.9469	10	0.21014	T	0.42	-4.7965	19.1242	0.93375	0.0:0.0:1.0:0.0	.	24	O75192	PX11A_HUMAN	I	24	ENSP00000300056:T24I	ENSP00000300056:T24I	T	-	2	0	PEX11A	88030767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.168000	0.94781	2.763000	0.94921	0.650000	0.86243	ACA		0.378	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313420.1	NM_003847		55	48	0	0	0	0	55	48				
VPS33B	26276	broad.mit.edu	37	15	91546342	91546342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr15:91546342G>T	ENST00000333371.3	-	17	1598	c.1245C>A	c.(1243-1245)taC>taA	p.Y415*	VPS33B_ENST00000535843.1_Nonsense_Mutation_p.Y324*|VPS33B_ENST00000535906.1_Nonsense_Mutation_p.Y388*	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	415					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					TCAGAGATCGGTAATCCTTGG	0.458																																						uc002bqp.1		NA																	0				ovary(2)	2						c.(1243-1245)TAC>TAA		vacuolar protein sorting 33B (yeast homolog))							156.0	140.0	145.0					15																	91546342		2198	4298	6496	SO:0001587	stop_gained	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91546342G>T	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.1245C>A	15.37:g.91546342G>T	ENSP00000327650:p.Tyr415*					VPS33B_uc002bqq.1_Nonsense_Mutation_p.Y324*|VPS33B_uc010uqu.1_Nonsense_Mutation_p.Y388*	p.Y415*	NM_018668	NP_061138	Q9H267	VP33B_HUMAN			17	1599	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		415					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Nonsense_Mutation	SNP	ENST00000333371.3	37	c.1245C>A	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	G	40	8.071376	0.98640	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	.	.	.	5.41	1.48	0.22813	.	0.059095	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-1.5626	8.2755	0.31871	0.3832:0.0:0.6168:0.0	.	.	.	.	X	415;388;324;370	.	ENSP00000327650:Y415X	Y	-	3	2	VPS33B	89347346	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	0.840000	0.27600	0.123000	0.18342	0.561000	0.74099	TAC		0.458	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		73	60	1	0	6.86e-32	9.64e-32	73	60				
C16orf71	146562	broad.mit.edu	37	16	4797521	4797521	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:4797521G>C	ENST00000299320.5	+	9	1936	c.1458G>C	c.(1456-1458)caG>caC	p.Q486H	C16orf71_ENST00000590191.1_Missense_Mutation_p.Q503H|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	486										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CCAAGGGGCAGAGCGCCCAGG	0.667																																						uc002cxn.2		NA																	0				central_nervous_system(1)	1						c.(1456-1458)CAG>CAC		hypothetical protein LOC146562							21.0	24.0	23.0					16																	4797521		2195	4299	6494	SO:0001583	missense	146562							g.chr16:4797521G>C	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.1458G>C	16.37:g.4797521G>C	ENSP00000299320:p.Gln486His						p.Q486H	NM_139170	NP_631909	Q8IYS4	CP071_HUMAN			9	1920	+			486					Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	c.1458G>C	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968370	0.34754	.	.	ENSG00000166246	ENST00000299320;ENST00000411541	T	0.35973	1.28	4.69	1.39	0.22231	.	1.054590	0.07439	N	0.896957	T	0.29158	0.0725	L	0.42245	1.32	0.09310	N	1	B	0.21452	0.056	B	0.14578	0.011	T	0.29212	-1.0019	10	0.52906	T	0.07	-1.2813	5.9117	0.19031	0.1057:0.3853:0.509:0.0	.	486	Q8IYS4	CP071_HUMAN	H	486;241	ENSP00000299320:Q486H	ENSP00000299320:Q486H	Q	+	3	2	C16orf71	4737522	0.000000	0.05858	0.004000	0.12327	0.013000	0.08279	0.152000	0.16302	1.086000	0.41228	-0.502000	0.04539	CAG		0.667	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		13	15	0	0	0	0	13	15				
RSL1D1	26156	broad.mit.edu	37	16	11935671	11935671	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:11935671C>A	ENST00000571133.1	-	7	808	c.736G>T	c.(736-738)Gag>Tag	p.E246*	RSL1D1_ENST00000542106.1_Nonsense_Mutation_p.E26*	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	246					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTCACGCTCTCCCACTTCTGA	0.393																																						uc002dbp.1		NA																	0					0						c.(736-738)GAG>TAG		ribosomal L1 domain containing 1							67.0	66.0	66.0					16																	11935671		2197	4300	6497	SO:0001587	stop_gained	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11935671C>A	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.736G>T	16.37:g.11935671C>A	ENSP00000460871:p.Glu246*					RSL1D1_uc010buv.1_Nonsense_Mutation_p.E245*|RSL1D1_uc010uyw.1_Nonsense_Mutation_p.E26*|RSL1D1_uc010buw.2_RNA	p.E246*	NM_015659	NP_056474	O76021	RL1D1_HUMAN			7	809	-			246					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Nonsense_Mutation	SNP	ENST00000571133.1	37	c.736G>T	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997173	0.54147	.	.	ENSG00000171490	ENST00000355674;ENST00000396503;ENST00000542106	.	.	.	4.91	0.267	0.15622	.	0.520058	0.21131	N	0.079648	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-8.1397	4.312	0.10976	0.0:0.4092:0.233:0.3577	.	.	.	.	X	245;246;26	.	ENSP00000347897:E245X	E	-	1	0	RSL1D1	11843172	0.998000	0.40836	0.991000	0.47740	0.719000	0.41307	0.212000	0.17497	0.128000	0.18479	-0.350000	0.07774	GAG		0.393	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		17	24	1	0	9.17e-09	1.09e-08	17	24				
ABCC1	4363	broad.mit.edu	37	16	16177363	16177363	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:16177363C>T	ENST00000399410.3	+	17	2431	c.2256C>T	c.(2254-2256)atC>atT	p.I752I	ABCC1_ENST00000351154.5_Intron|ABCC1_ENST00000346370.5_Silent_p.I752I|ABCC1_ENST00000345148.5_Silent_p.I752I|ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000399408.2_Silent_p.I752I	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	752	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	ACCTGGAAATCCTGCCCAGTG	0.517																																						uc010bvi.2		NA																	0				ovary(4)	4						c.(2254-2256)ATC>ATT		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						83.0	85.0	84.0					16																	16177363		2018	4205	6223	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16177363C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.2256C>T	16.37:g.16177363C>T						ABCC1_uc010bvj.2_Intron|ABCC1_uc010bvk.2_Silent_p.I752I|ABCC1_uc010bvl.2_Silent_p.I752I|ABCC1_uc010bvm.2_Intron|ABCC1_uc002del.3_Silent_p.I636I	p.I752I	NM_004996	NP_004987	P33527	MRP1_HUMAN			17	2431	+			752			ABC transporter 1.|Cytoplasmic.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.2256C>T	CCDS42122.1																																																																																				0.517	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		11	60	0	0	0	0	11	60				
ACSM5	54988	broad.mit.edu	37	16	20451218	20451218	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:20451218G>A	ENST00000331849.4	+	13	1780	c.1633G>A	c.(1633-1635)Gct>Act	p.A545T	CTD-2194A8.2_ENST00000574654.1_RNA|CTD-2194A8.2_ENST00000575772.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	545					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AAGGGTGACTGCTCCATACAA	0.537																																						uc002dhe.2		NA																	0				ovary(2)	2						c.(1633-1635)GCT>ACT		acyl-CoA synthetase medium-chain family member 5							96.0	89.0	91.0					16																	20451218		2203	4299	6502	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20451218G>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1633G>A	16.37:g.20451218G>A	ENSP00000327916:p.Ala545Thr						p.A545T	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			13	1780	+			545					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1633G>A	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300268	0.81136	.	.	ENSG00000183549	ENST00000331849	T	0.59502	0.26	5.01	5.01	0.66863	.	0.000000	0.56097	D	0.000035	T	0.77711	0.4171	M	0.82517	2.595	0.51012	D	0.999904	D	0.76494	0.999	D	0.68765	0.96	T	0.81678	-0.0824	10	0.87932	D	0	-15.2393	17.452	0.87594	0.0:0.0:1.0:0.0	.	545	Q6NUN0	ACSM5_HUMAN	T	545	ENSP00000327916:A545T	ENSP00000327916:A545T	A	+	1	0	ACSM5	20358719	1.000000	0.71417	0.763000	0.31416	0.522000	0.34438	6.331000	0.72929	2.487000	0.83934	0.655000	0.94253	GCT		0.537	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		21	56	0	0	0	0	21	56				
KIAA0556	23247	broad.mit.edu	37	16	27752188	27752188	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:27752188C>G	ENST00000261588.4	+	15	2589	c.2570C>G	c.(2569-2571)tCa>tGa	p.S857*		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	857						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGGAGGGGCTCAAGGAAGGAT	0.597																																						uc002dow.2		NA																	0				ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(2569-2571)TCA>TGA		hypothetical protein LOC23247							35.0	33.0	34.0					16																	27752188		2197	4300	6497	SO:0001587	stop_gained	23247							g.chr16:27752188C>G	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2570C>G	16.37:g.27752188C>G	ENSP00000261588:p.Ser857*						p.S857*	NM_015202	NP_056017	O60303	K0556_HUMAN			15	2594	+			857					A7E2C2	Nonsense_Mutation	SNP	ENST00000261588.4	37	c.2570C>G	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.859479	0.91433	.	.	ENSG00000047578	ENST00000261588	.	.	.	5.0	-0.828	0.10799	.	1.095450	0.06913	N	0.807977	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-24.8079	2.0576	0.03585	0.1284:0.2951:0.1265:0.45	.	.	.	.	X	857	.	ENSP00000261588:S857X	S	+	2	0	KIAA0556	27659689	0.000000	0.05858	0.002000	0.10522	0.329000	0.28539	-0.435000	0.06931	-0.450000	0.07107	-0.367000	0.07326	TCA		0.597	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		9	14	0	0	0	0	9	14				
NFATC2IP	84901	broad.mit.edu	37	16	28967303	28967303	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:28967303C>G	ENST00000320805.4	+	4	658	c.583C>G	c.(583-585)Ctg>Gtg	p.L195V	NFATC2IP_ENST00000564978.1_Intron|RP11-264B17.2_ENST00000568057.1_RNA|NFATC2IP_ENST00000562977.1_Intron|NFATC2IP_ENST00000568148.1_5'Flank|MIR4517_ENST00000578855.1_RNA|RP11-264B17.2_ENST00000569974.1_RNA	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	195					cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L195M(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						CTACAGGGATCTGGACAACTC	0.527																																						uc002dru.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)	1						c.(583-585)CTG>GTG		nuclear factor of activated T-cells,							113.0	99.0	104.0					16																	28967303		2197	4300	6497	SO:0001583	missense	84901					cytoplasm|nucleus		g.chr16:28967303C>G	AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.583C>G	16.37:g.28967303C>G	ENSP00000324792:p.Leu195Val					uc010vct.1_Intron|NFATC2IP_uc002drt.2_Intron|NFATC2IP_uc002drv.2_Translation_Start_Site|NFATC2IP_uc010vdh.1_5'Flank	p.L195V	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN			4	598	+			195					B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Missense_Mutation	SNP	ENST00000320805.4	37	c.583C>G	CCDS10645.1	.	.	.	.	.	.	.	.	.	.	C	7.680	0.688730	0.14973	.	.	ENSG00000176953	ENST00000320805	T	0.17370	2.28	4.32	-0.0539	0.13816	.	1.190620	0.06188	N	0.680762	T	0.06325	0.0163	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.32640	-0.9899	10	0.02654	T	1	-0.0018	3.0737	0.06239	0.1712:0.3984:0.3331:0.0973	.	195	Q8NCF5	NF2IP_HUMAN	V	195	ENSP00000324792:L195V	ENSP00000324792:L195V	L	+	1	2	NFATC2IP	28874804	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.136000	0.15974	-0.136000	0.11475	-0.310000	0.09108	CTG		0.527	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2	NM_032815		20	55	0	0	0	0	20	55				
ZNF629	23361	broad.mit.edu	37	16	30793202	30793202	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:30793202C>A	ENST00000262525.4	-	3	2654	c.2447G>T	c.(2446-2448)gGc>gTc	p.G816V	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	816					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGGGGTCTCGCCCTCACCTTC	0.612																																						uc002dzs.1		NA																	0					0						c.(2446-2448)GGC>GTC		zinc finger protein 629							72.0	82.0	79.0					16																	30793202		1938	4131	6069	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793202C>A	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.2447G>T	16.37:g.30793202C>A	ENSP00000262525:p.Gly816Val						p.G816V	NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2655	-			816					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.2447G>T	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	C	5.349	0.249660	0.10130	.	.	ENSG00000102870	ENST00000262525	T	0.09817	2.94	5.65	3.66	0.41972	.	0.360857	0.19962	N	0.102198	T	0.06325	0.0163	N	0.08118	0	0.21147	N	0.999774	B	0.24092	0.097	B	0.26770	0.073	T	0.32107	-0.9919	10	0.66056	D	0.02	-3.981	9.6293	0.39770	0.0:0.78:0.1417:0.0783	.	816	Q9UEG4	ZN629_HUMAN	V	816	ENSP00000262525:G816V	ENSP00000262525:G816V	G	-	2	0	ZNF629	30700703	0.000000	0.05858	0.030000	0.17652	0.033000	0.12548	-0.055000	0.11807	0.721000	0.32231	0.561000	0.74099	GGC		0.612	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		68	72	1	0	6.26e-26	8.65e-26	68	72				
ZNF668	79759	broad.mit.edu	37	16	31072519	31072519	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:31072519C>A	ENST00000538906.1	-	3	2514	c.1730G>T	c.(1729-1731)tGt>tTt	p.C577F	ZNF668_ENST00000300849.4_Missense_Mutation_p.C577F|ZNF668_ENST00000394983.2_Missense_Mutation_p.C577F|ZNF668_ENST00000535577.1_Missense_Mutation_p.C577F|ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000426488.2_Missense_Mutation_p.C600F|ZNF668_ENST00000539836.3_Missense_Mutation_p.C600F	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	577					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGCCTTGGGACAATGGGGGCA	0.652																																					Colon(181;1111 1980 5060 10512 25785)	uc010caf.2		NA																	0				breast(4)	4						c.(1729-1731)TGT>TTT		zinc finger protein 668							62.0	64.0	63.0					16																	31072519		2197	4300	6497	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072519C>A		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1730G>T	16.37:g.31072519C>A	ENSP00000440149:p.Cys577Phe					ZNF668_uc002eao.2_Missense_Mutation_p.C577F	p.C577F	NM_024706	NP_078982	Q96K58	ZN668_HUMAN			3	2087	-			577			C2H2-type 16.		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.1730G>T	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033935	0.75504	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04	4.93	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96093	0.8727	H	0.99545	4.62	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.98008	1.0364	10	0.87932	D	0	-29.9815	17.084	0.86605	0.0:1.0:0.0:0.0	.	577	Q96K58	ZN668_HUMAN	F	600;577;577;577;577	ENSP00000442573:C600F;ENSP00000441349:C577F;ENSP00000440149:C577F;ENSP00000378434:C577F;ENSP00000300849:C577F	ENSP00000300849:C577F	C	-	2	0	ZNF668	30980020	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.280000	0.78610	2.581000	0.87130	0.561000	0.74099	TGT		0.652	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		14	60	1	0	1.34e-09	1.61e-09	14	60				
MYLK3	91807	broad.mit.edu	37	16	46771856	46771856	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:46771856C>T	ENST00000394809.4	-	3	883	c.768G>A	c.(766-768)gaG>gaA	p.E256E	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	256					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCCTGAGGTTCTCGCTGGGTG	0.647																																						uc002eei.3		NA																	0				stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7						c.(766-768)GAG>GAA		myosin light chain kinase 3							59.0	56.0	57.0					16																	46771856		2203	4300	6503	SO:0001819	synonymous_variant	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46771856C>T	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.768G>A	16.37:g.46771856C>T						MYLK3_uc010vge.1_Intron|MYLK3_uc002eej.1_5'UTR	p.E256E	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			3	884	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	256					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Silent	SNP	ENST00000394809.4	37	c.768G>A	CCDS10723.2																																																																																				0.647	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		23	17	0	0	0	0	23	17				
SLC6A2	6530	broad.mit.edu	37	16	55690666	55690666	+	Silent	SNP	T	T	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:55690666T>G	ENST00000379906.2	+	1	315	c.60T>G	c.(58-60)ggT>ggG	p.G20G	SLC6A2_ENST00000566163.1_Silent_p.G20G|SLC6A2_ENST00000219833.8_Silent_p.G20G|SLC6A2_ENST00000568943.1_Silent_p.G20G|SLC6A2_ENST00000414754.3_Silent_p.G20G|SLC6A2_ENST00000561820.1_Silent_p.G20G	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	20					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CGGACACGGGTCCAGAGCAGC	0.697																																						uc002eif.2		NA																	0				lung(4)|ovary(2)|pancreas(2)	8						c.(58-60)GGT>GGG		solute carrier family 6 member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						26.0	29.0	28.0					16																	55690666		2196	4299	6495	SO:0001819	synonymous_variant	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55690666T>G		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.60T>G	16.37:g.55690666T>G						SLC6A2_uc010ccd.2_Silent_p.G20G|SLC6A2_uc002eig.2_Silent_p.G20G|SLC6A2_uc002eih.2_Silent_p.G20G	p.G20G	NM_001043	NP_001034	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	2	171	+			20			Cytoplasmic (Potential).		B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	37	c.60T>G	CCDS10754.1																																																																																				0.697	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			6	30	0	0	0	0	6	30				
CNOT1	23019	broad.mit.edu	37	16	58594184	58594184	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:58594184G>A	ENST00000317147.5	-	17	2394	c.2062C>T	c.(2062-2064)Cca>Tca	p.P688S	CNOT1_ENST00000569240.1_Missense_Mutation_p.P688S|CNOT1_ENST00000569732.1_5'Flank|CNOT1_ENST00000441024.2_Missense_Mutation_p.P688S|SNORA50_ENST00000384225.2_RNA	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	688					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ACTCCAGGTGGTGGTTGTCTG	0.428																																						uc002env.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(2062-2064)CCA>TCA		CCR4-NOT transcription complex, subunit 1							233.0	179.0	197.0					16																	58594184		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58594184G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2062C>T	16.37:g.58594184G>A	ENSP00000320949:p.Pro688Ser					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.P688S|CNOT1_uc002enx.2_Missense_Mutation_p.P688S|CNOT1_uc002enz.1_Missense_Mutation_p.P117S|SNORA50_uc002eoa.1_5'Flank	p.P688S	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	17	2355	-			688					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.2062C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433518	0.83776	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.18338	2.22;2.22	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.40670	0.1126	L	0.56769	1.78	0.80722	D	1	D;D;P	0.67145	0.996;0.987;0.952	D;P;P	0.78314	0.991;0.808;0.6	T	0.01869	-1.1257	9	.	.	.	.	19.8472	0.96713	0.0:0.0:1.0:0.0	.	688;688;688	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	S	688;117;688;688	ENSP00000320949:P688S;ENSP00000413113:P688S	.	P	-	1	0	CNOT1	57151685	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.691000	0.98679	2.768000	0.95171	0.650000	0.86243	CCA		0.428	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		29	43	0	0	0	0	29	43				
CNOT1	23019	broad.mit.edu	37	16	58610398	58610398	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:58610398G>A	ENST00000317147.5	-	14	2005	c.1673C>T	c.(1672-1674)tCt>tTt	p.S558F	CNOT1_ENST00000569240.1_Missense_Mutation_p.S558F|CNOT1_ENST00000441024.2_Missense_Mutation_p.S558F	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	558					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAGTATTCGAGACAATTTGGC	0.483																																						uc002env.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(1672-1674)TCT>TTT		CCR4-NOT transcription complex, subunit 1							188.0	142.0	158.0					16																	58610398		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58610398G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1673C>T	16.37:g.58610398G>A	ENSP00000320949:p.Ser558Phe					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.S558F|CNOT1_uc002enx.2_Missense_Mutation_p.S558F|CNOT1_uc002enz.1_5'UTR	p.S558F	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	14	1966	-			558					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.1673C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	33	5.272985	0.95429	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.19250	2.16;2.16	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	0.994;0.999;1.0	D;D;D	0.91635	0.989;0.997;0.999	T	0.56709	-0.7934	9	.	.	.	3.7467	19.6859	0.95979	0.0:0.0:1.0:0.0	.	558;558;558	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	F	558	ENSP00000320949:S558F;ENSP00000413113:S558F	.	S	-	2	0	CNOT1	57167899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.646000	0.89796	0.650000	0.86243	TCT		0.483	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		7	39	0	0	0	0	7	39				
HYDIN	54768	broad.mit.edu	37	16	70843905	70843905	+	Silent	SNP	C	C	T	rs191626208	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:70843905C>T	ENST00000393567.2	-	85	14814	c.14664G>A	c.(14662-14664)acG>acA	p.T4888T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4888					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAAATGAGAACGTGCCCTGGA	0.488													C|||	2	0.000399361	0.0	0.0	5008	,	,		21466	0.002		0.0	False		,,,				2504	0.0					uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(14659-14661)ACG>ACA		hydrocephalus inducing isoform a		C		1,3873		0,1,1936	163.0	168.0	166.0		14661	-8.9	0.0	16		166	0,8278		0,0,4139	no	coding-synonymous	HYDIN	NM_032821.2		0,1,6075	TT,TC,CC		0.0,0.0258,0.0082		4887/5121	70843905	1,12151	1937	4139	6076	SO:0001819	synonymous_variant	54768							g.chr16:70843905C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.14664G>A	16.37:g.70843905C>T						HYDIN_uc010cfy.2_RNA	p.T4887T	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			85	14789	-		Ovarian(137;0.0654)	4888					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.14661G>A	CCDS59269.1																																																																																				0.488	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			46	175	0	0	0	0	46	175				
BCAR1	9564	broad.mit.edu	37	16	75276935	75276935	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:75276935G>A	ENST00000162330.5	-	2	192	c.66C>T	c.(64-66)ctC>ctT	p.L22L	BCAR1_ENST00000393422.2_Silent_p.L40L|BCAR1_ENST00000546196.1_5'UTR|BCAR1_ENST00000535626.2_Silent_p.L22L|BCAR1_ENST00000418647.3_Silent_p.L68L|BCAR1_ENST00000538440.2_Silent_p.L22L|BCAR1_ENST00000393420.6_Silent_p.L22L|BCAR1_ENST00000542031.2_Silent_p.L20L|BCAR1_ENST00000420641.3_Silent_p.L40L	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	22	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGCGGAAGGAGAGCTCATCCG	0.627																																						uc002fdv.2		NA																	0				central_nervous_system(5)|breast(2)|prostate(1)	8						c.(64-66)CTC>CTT		breast cancer anti-estrogen resistance 1							45.0	45.0	45.0					16																	75276935		2198	4299	6497	SO:0001819	synonymous_variant	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75276935G>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.66C>T	16.37:g.75276935G>A						BCAR1_uc010cgu.2_5'UTR|BCAR1_uc010vna.1_Silent_p.L20L|BCAR1_uc010vnb.1_Silent_p.L68L|BCAR1_uc002fdw.2_Silent_p.L22L|BCAR1_uc010vnc.1_Silent_p.L22L|BCAR1_uc010vnd.1_Silent_p.L40L|BCAR1_uc002fdx.2_Silent_p.L40L	p.L22L	NM_014567	NP_055382	P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	2	189	-			22			SH3.		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Silent	SNP	ENST00000162330.5	37	c.66C>T	CCDS10915.1																																																																																				0.627	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		14	12	0	0	0	0	14	12				
ZC3H18	124245	broad.mit.edu	37	16	88696916	88696916	+	Missense_Mutation	SNP	G	G	C	rs374463113		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr16:88696916G>C	ENST00000301011.5	+	17	2790	c.2590G>C	c.(2590-2592)Ggg>Cgg	p.G864R	ZC3H18_ENST00000452588.2_Missense_Mutation_p.G888R	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	864						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GAAGTCAGGTGGGAGACTGGG	0.637																																					Ovarian(121;375 2276 20373 38669)	uc002fky.2		NA																	0				skin(1)	1						c.(2590-2592)GGG>CGG		zinc finger CCCH-type containing 18							51.0	48.0	49.0					16																	88696916		2197	4300	6497	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88696916G>C	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2590G>C	16.37:g.88696916G>C	ENSP00000301011:p.Gly864Arg					ZC3H18_uc010voz.1_Missense_Mutation_p.G888R|ZC3H18_uc010chw.2_RNA|ZC3H18_uc002fkz.2_Missense_Mutation_p.G134R	p.G864R	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	17	2790	+			864					Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.2590G>C	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478847	0.63849	.	.	ENSG00000158545	ENST00000301011;ENST00000452588	T;T	0.35421	1.31;1.32	5.38	5.38	0.77491	.	0.104664	0.64402	D	0.000004	T	0.47838	0.1467	L	0.35414	1.06	0.48571	D	0.999679	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.22906	-1.0203	10	0.21540	T	0.41	-45.3561	15.8382	0.78814	0.0:0.0:1.0:0.0	.	888;864	E7ERS3;Q86VM9	.;ZCH18_HUMAN	R	864;888	ENSP00000301011:G864R;ENSP00000416951:G888R	ENSP00000301011:G864R	G	+	1	0	ZC3H18	87224417	0.998000	0.40836	0.794000	0.32065	0.987000	0.75469	3.237000	0.51344	2.517000	0.84864	0.462000	0.41574	GGG		0.637	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		8	24	0	0	0	0	8	24				
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000420246.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGCGCGGACGCGGGTGCCG	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	p.V157F(139)|p.V157I(10)|p.V157D(8)|p.V157G(7)|p.0?(7)|p.V157L(6)|p.V157V(5)|p.V157fs*13(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(469-471)GTC>TTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	52.0	51.0					17																	7578461		2202	4300	6502	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578461C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.V157F|TP53_uc002gih.2_Missense_Mutation_p.V157F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V25F|TP53_uc010cng.1_Missense_Mutation_p.V25F|TP53_uc002gii.1_Missense_Mutation_p.V25F|TP53_uc010cnh.1_Missense_Mutation_p.V157F|TP53_uc010cni.1_Missense_Mutation_p.V157F|TP53_uc002gij.2_Missense_Mutation_p.V157F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V64F|TP53_uc002gio.2_Missense_Mutation_p.V25F|TP53_uc010vug.1_Missense_Mutation_p.V118F	p.V157F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	663	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	157		V -> I (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.469G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	15	1	0	7.88e-20	1.06e-19	25	15				
MYH10	4628	broad.mit.edu	37	17	8396258	8396258	+	Missense_Mutation	SNP	C	C	T	rs201117056		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:8396258C>T	ENST00000269243.4	-	31	4339	c.4201G>A	c.(4201-4203)Gcg>Acg	p.A1401T	MYH10_ENST00000360416.3_Missense_Mutation_p.A1432T|MYH10_ENST00000396239.1_Missense_Mutation_p.A1422T|MYH10_ENST00000379980.4_Missense_Mutation_p.A1417T	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1401					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AGGGCCTCCGCGTCCTTCAGA	0.537																																						uc002gll.2		NA																	0				ovary(2)	2						c.(4201-4203)GCG>ACG		myosin, heavy polypeptide 10, non-muscle		C	THR/ALA	0,4406		0,0,2203	82.0	80.0	81.0		4201	2.1	0.1	17		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH10	NM_005964.1	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1401/1977	8396258	1,13005	2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8396258C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4201G>A	17.37:g.8396258C>T	ENSP00000269243:p.Ala1401Thr					MYH10_uc002glm.2_Missense_Mutation_p.A1432T|MYH10_uc010cnx.2_Missense_Mutation_p.A1410T	p.A1401T	NM_005964	NP_005955	P35580	MYH10_HUMAN			31	4297	-			1401			Potential.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.4201G>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	9.901	1.206826	0.22205	0.0	1.16E-4	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.31	2.11	0.27256	Myosin tail (1);	0.338760	0.31897	N	0.006885	T	0.67832	0.2935	L	0.48642	1.525	0.09310	N	0.999994	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.10450	0.005;0.001;0.005	T	0.62044	-0.6937	10	0.72032	D	0.01	.	7.5221	0.27635	0.0:0.5709:0.0:0.4291	.	1410;1432;1401	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	T	1401;1432;1422;1417	ENSP00000269243:A1401T;ENSP00000353590:A1432T;ENSP00000379539:A1422T;ENSP00000369315:A1417T	ENSP00000269243:A1401T	A	-	1	0	MYH10	8336983	0.639000	0.27234	0.053000	0.19242	0.083000	0.17756	0.345000	0.19979	0.823000	0.34589	-0.781000	0.03364	GCG		0.537	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			39	22	0	0	0	0	39	22				
MYH4	4622	broad.mit.edu	37	17	10358338	10358338	+	Silent	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:10358338T>C	ENST00000255381.2	-	21	2465	c.2355A>G	c.(2353-2355)ctA>ctG	p.L785L	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	785	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGAGTTGAGCTAGCTTTTCAT	0.448																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(2353-2355)CTA>CTG		myosin, heavy polypeptide 4, skeletal muscle							293.0	142.0	193.0					17																	10358338		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10358338T>C		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2355A>G	17.37:g.10358338T>C						uc002gml.1_Intron	p.L785L	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			21	2466	-			785			IQ.			Silent	SNP	ENST00000255381.2	37	c.2355A>G	CCDS11154.1																																																																																				0.448	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		14	39	0	0	0	0	14	39				
MPRIP	23164	broad.mit.edu	37	17	17077275	17077275	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:17077275G>A	ENST00000341712.4	+	18	2475	c.2475G>A	c.(2473-2475)gaG>gaA	p.E825E	RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395804.3_Silent_p.E825E|MPRIP_ENST00000444976.1_Silent_p.E787E|MPRIP_ENST00000395811.5_Silent_p.E825E			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	825	Interaction with PPP1R12A.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TCCTCTCGGAGCAGTACTCGC	0.657																																						uc002gqu.1		NA																	0					0						c.(2473-2475)GAG>GAA		myosin phosphatase-Rho interacting protein							64.0	60.0	61.0					17																	17077275		2203	4298	6501	SO:0001819	synonymous_variant	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17077275G>A	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2475G>A	17.37:g.17077275G>A						MPRIP_uc002gqv.1_Silent_p.E825E|MPRIP_uc002gqw.1_Silent_p.E580E|MPRIP_uc002gqx.1_Silent_p.E1054E|MPRIP_uc002gqy.1_Silent_p.E1054E|MPRIP_uc010cpl.1_Silent_p.E51E|MPRIP_uc010cpm.1_Silent_p.E51E	p.E825E	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN			18	2531	+			825			Interaction with PPP1R12A.|Potential.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Silent	SNP	ENST00000341712.4	37	c.2475G>A	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.374|8.374	0.835886|0.835886	0.16820|0.16820	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000313485|ENST00000414263	.|.	.|.	.|.	5.88|5.88	2.82|2.82	0.32997|0.32997	.|.	.|.	.|.	.|.	.|.	T|T	0.60625|0.60625	0.2283|0.2283	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.59134|0.59134	-0.7511|-0.7511	4|4	.|.	.|.	.|.	-22.6019|-22.6019	11.3534|11.3534	0.49602|0.49602	0.1908:0.0:0.8092:0.0|0.1908:0.0:0.8092:0.0	.|.	.|.	.|.	.|.	T|N	1190|891	.|.	.|.	A|S	+|+	1|2	0|0	MPRIP|MPRIP	17018000|17018000	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.765000|0.765000	0.43378|0.43378	3.517000|3.517000	0.53443|0.53443	1.480000|1.480000	0.48289|0.48289	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.657	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		8	21	0	0	0	0	8	21				
NOS2	4843	broad.mit.edu	37	17	26108077	26108077	+	Silent	SNP	G	G	A	rs200761874		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:26108077G>A	ENST00000313735.6	-	8	1082	c.849C>T	c.(847-849)aaC>aaT	p.N283N		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	283					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TGAATTCCACGTTGGCAGGGT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17783	0.001		0.0	False		,,,				2504	0.0					uc002gzu.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(847-849)AAC>AAT		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	G		1,4405	2.1+/-5.4	0,1,2202	68.0	61.0	63.0		849	2.5	0.0	17		63	0,8600		0,0,4300	no	coding-synonymous	NOS2	NM_000625.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		283/1154	26108077	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26108077G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.849C>T	17.37:g.26108077G>A						NOS2_uc010crh.1_Silent_p.N283N|NOS2_uc010wab.1_Silent_p.N283N	p.N283N	NM_000625	NP_000616	P35228	NOS2_HUMAN			8	1113	-			283					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	c.849C>T	CCDS11223.1																																																																																				0.632	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		25	61	0	0	0	0	25	61				
MYO18A	399687	broad.mit.edu	37	17	27409400	27409400	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:27409400G>T	ENST00000527372.1	-	41	6134	c.5954C>A	c.(5953-5955)tCc>tAc	p.S1985Y	MYO18A_ENST00000531253.1_Missense_Mutation_p.S1970Y|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000533112.1_Missense_Mutation_p.S1933Y|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000354329.4_Missense_Mutation_p.S1985Y	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1985					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGACAACCAGGACTTGACCCC	0.532																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NA																	0					0						c.(5953-5955)TCC>TAC		myosin 18A isoform a							90.0	88.0	88.0					17																	27409400		2059	4204	6263	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27409400G>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.5954C>A	17.37:g.27409400G>T	ENSP00000437073:p.Ser1985Tyr					MYO18A_uc010wbc.1_Missense_Mutation_p.S1503Y|MYO18A_uc002hds.2_Missense_Mutation_p.S1512Y|MYO18A_uc010csa.1_Missense_Mutation_p.S1933Y|MYO18A_uc002hdu.1_Missense_Mutation_p.S1970Y	p.S1985Y	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		41	6112	-			1985					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.5954C>A	CCDS45642.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.114990|5.114990	0.94339|0.94339	.|.	.|.	ENSG00000196535|ENSG00000196535	ENST00000527859|ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428;ENST00000546105	.|D;D;D;D	.|0.89343	.|-2.43;-2.5;-2.37;-2.43	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91590|0.91590	0.7343|0.7343	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;1.0;1.0;0.999	.|D;D;D;D	.|0.87578	.|0.996;0.998;0.998;0.996	D|D	0.92418|0.92418	0.5943|0.5943	5|10	.|0.87932	.|D	.|0	.|.	20.1152|20.1152	0.97926|0.97926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1573;1933;1970;1985	.|F8W6Y3;Q92614-3;Q92614-4;Q92614	.|.;.;.;MY18A_HUMAN	T|Y	233|1985;1933;1933;1970;1985;866;866;1573;251	.|ENSP00000346291:S1985Y;ENSP00000435932:S1933Y;ENSP00000434228:S1970Y;ENSP00000437073:S1985Y	.|ENSP00000346291:S1985Y	P|S	-|-	1|2	0|0	MYO18A|MYO18A	24433526|24433526	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.359000|9.359000	0.97115|0.97115	2.750000|2.750000	0.94351|0.94351	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.532	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		21	50	1	0	8.05e-18	1.07e-17	21	50				
LRRC37B	114659	broad.mit.edu	37	17	30358450	30358450	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:30358450G>T	ENST00000341671.7	+	5	1954	c.1949G>T	c.(1948-1950)tGg>tTg	p.W650L	LRRC37B_ENST00000327564.7_Missense_Mutation_p.W677L|LRRC37B_ENST00000394713.3_Intron|LRRC37B_ENST00000543378.2_Missense_Mutation_p.W568L|LRRC37B_ENST00000584368.1_Intron	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	650						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TTTCAGGCCTGGCACGGAATG	0.328																																						uc002hgu.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1948-1950)TGG>TTG		leucine rich repeat containing 37B precursor							31.0	35.0	34.0					17																	30358450		2196	4294	6490	SO:0001583	missense	114659					integral to membrane		g.chr17:30358450G>T	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.1949G>T	17.37:g.30358450G>T	ENSP00000340519:p.Trp650Leu					LRRC37B_uc010wbx.1_Missense_Mutation_p.W568L|LRRC37B_uc010csu.2_Intron	p.W650L	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN			5	1960	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	650			Extracellular (Potential).		Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.1949G>T	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	12.95	2.090030	0.36855	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000341671	T;T;T	0.60040	0.28;0.22;0.23	2.36	2.36	0.29203	.	.	.	.	.	T	0.26557	0.0649	N	0.00011	-3.005	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.57423	-0.7814	9	0.45353	T	0.12	.	8.3832	0.32483	0.0:0.0:1.0:0.0	.	650	Q96QE4	LR37B_HUMAN	L	568;677;650	ENSP00000443345:W568L;ENSP00000332536:W677L;ENSP00000340519:W650L	ENSP00000332536:W677L	W	+	2	0	LRRC37B	27382563	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	2.648000	0.46647	1.632000	0.50472	0.448000	0.29417	TGG		0.328	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		11	95	1	0	0.000219431	0.00023657	11	95				
SPOP	8405	broad.mit.edu	37	17	47696729	47696729	+	Silent	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:47696729G>C	ENST00000393328.2	-	5	584	c.219C>G	c.(217-219)ccC>ccG	p.P73P	SPOP_ENST00000393331.3_Silent_p.P73P|SPOP_ENST00000347630.2_Silent_p.P73P|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000503676.1_Silent_p.P73P|SPOP_ENST00000504102.1_Silent_p.P73P	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	73	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTAACCCTTTGGGGTTTACTC	0.398										Prostate(2;0.17)																												uc010dbk.2		NA																	0				prostate(2)|ovary(2)|lung(2)	6						c.(217-219)CCC>CCG		speckle-type POZ protein							70.0	66.0	67.0					17																	47696729		2203	4300	6503	SO:0001819	synonymous_variant	8405				mRNA processing	nucleus	protein binding	g.chr17:47696729G>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.219C>G	17.37:g.47696729G>C		Prostate(2;0.17)				SPOP_uc002ipb.2_Silent_p.P73P|SPOP_uc002ipc.2_Silent_p.P73P|SPOP_uc002ipd.2_Silent_p.P73P|SPOP_uc002ipe.2_Silent_p.P73P|SPOP_uc002ipf.2_Silent_p.P73P|SPOP_uc002ipg.2_Silent_p.P73P	p.P73P	NM_003563	NP_003554	O43791	SPOP_HUMAN			5	851	-			73			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Silent	SNP	ENST00000393328.2	37	c.219C>G	CCDS11551.1																																																																																				0.398	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		15	27	0	0	0	0	15	27				
KIF2B	84643	broad.mit.edu	37	17	51902367	51902367	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:51902367A>T	ENST00000268919.4	+	1	2129	c.1973A>T	c.(1972-1974)aAa>aTa	p.K658I		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	658					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATCCAAAAGAAACTGAAATTA	0.458																																						uc002iua.2		NA																	0				ovary(5)|skin(3)	8						c.(1972-1974)AAA>ATA		kinesin family member 2B							83.0	82.0	82.0					17																	51902367		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51902367A>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1973A>T	17.37:g.51902367A>T	ENSP00000268919:p.Lys658Ile					uc010wna.1_RNA	p.K658I	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	2129	+			658			Potential.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1973A>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.975373	0.74360	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.77620	-1.11	5.65	5.65	0.86999	.	0.000000	0.47455	D	0.000235	T	0.81029	0.4738	L	0.29908	0.895	0.34978	D	0.753812	D	0.69078	0.997	D	0.70935	0.971	D	0.86152	0.1588	10	0.56958	D	0.05	.	13.5484	0.61717	1.0:0.0:0.0:0.0	.	658	Q8N4N8	KIF2B_HUMAN	I	658;546	ENSP00000268919:K658I	ENSP00000268919:K658I	K	+	2	0	KIF2B	49257366	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	5.135000	0.64777	2.279000	0.76181	0.533000	0.62120	AAA		0.458	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		30	47	0	0	0	0	30	47				
TBC1D16	125058	broad.mit.edu	37	17	77921571	77921571	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:77921571G>A	ENST00000310924.2	-	9	1716	c.1601C>T	c.(1600-1602)tCg>tTg	p.S534L	TBC1D16_ENST00000576768.1_Missense_Mutation_p.S159L|TBC1D16_ENST00000340848.7_Missense_Mutation_p.S172L|TBC1D16_ENST00000572862.1_Missense_Mutation_p.S172L|TBC1D16_ENST00000570373.1_Missense_Mutation_p.S173L	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	534	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CACCAGGTCCGACATCCCTTG	0.602																																					Ovarian(14;397 562 4850 31922 49378)	uc002jxj.2		NA																	0					0						c.(1600-1602)TCG>TTG		TBC1 domain family, member 16							103.0	77.0	86.0					17																	77921571		2202	4300	6502	SO:0001583	missense	125058					intracellular	Rab GTPase activator activity	g.chr17:77921571G>A	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1601C>T	17.37:g.77921571G>A	ENSP00000309794:p.Ser534Leu					TBC1D16_uc002jxh.2_Missense_Mutation_p.S172L|TBC1D16_uc002jxi.2_Missense_Mutation_p.S159L|TBC1D16_uc002jxk.1_Missense_Mutation_p.S172L	p.S534L	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		9	1717	-	all_neural(118;0.167)		534			Rab-GAP TBC.		B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	ENST00000310924.2	37	c.1601C>T	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	G	35	5.500687	0.96371	.	.	ENSG00000167291	ENST00000340848;ENST00000310924	T;T	0.05081	3.5;3.5	5.57	5.57	0.84162	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.42040	0.1185	H	0.96604	3.85	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	0.61461	-0.7058	10	0.87932	D	0	-22.2568	19.5469	0.95302	0.0:0.0:1.0:0.0	.	194;534;534;172	Q96DH7;Q8TBP0;B9A6L7;Q8N3Z4	.;TBC16_HUMAN;.;.	L	172;534	ENSP00000341517:S172L;ENSP00000309794:S534L	ENSP00000309794:S534L	S	-	2	0	TBC1D16	75536166	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.391000	0.97249	2.619000	0.88677	0.561000	0.74099	TCG		0.602	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		44	10	0	0	0	0	44	10				
IMPA2	3613	broad.mit.edu	37	18	11999122	11999122	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr18:11999122G>A	ENST00000269159.3	+	2	408	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	56					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TCTTGTGACAGAAACAGATCA	0.423																																						uc002kqp.1		NA																	0				skin(2)	2						c.(166-168)GAA>AAA		inositol(myo)-1(or 4)-monophosphatase 2	Lithium(DB01356)						134.0	135.0	135.0					18																	11999122		2203	4300	6503	SO:0001583	missense	3613				inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	g.chr18:11999122G>A	AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.166G>A	18.37:g.11999122G>A	ENSP00000269159:p.Glu56Lys					IMPA2_uc002kqo.1_5'UTR|IMPA2_uc010dlb.1_5'UTR|IMPA2_uc002kqq.1_5'UTR	p.E56K	NM_014214	NP_055029	O14732	IMPA2_HUMAN			2	380	+			56					B0YJ29|Q9UJT3	Missense_Mutation	SNP	ENST00000269159.3	37	c.166G>A	CCDS11855.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067127	0.76301	.	.	ENSG00000141401	ENST00000269159;ENST00000383376	T;T	0.52983	0.64;0.64	5.38	5.38	0.77491	.	0.065441	0.64402	D	0.000017	T	0.55609	0.1931	L	0.58583	1.82	0.80722	D	1	B	0.33919	0.432	B	0.42771	0.397	T	0.54970	-0.8213	10	0.45353	T	0.12	-14.758	18.7516	0.91818	0.0:0.0:1.0:0.0	.	56	O14732	IMPA2_HUMAN	K	56	ENSP00000269159:E56K;ENSP00000372867:E56K	ENSP00000269159:E56K	E	+	1	0	IMPA2	11989122	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.546000	0.73887	2.529000	0.85273	0.655000	0.94253	GAA		0.423	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254601.1			18	50	0	0	0	0	18	50				
SLC39A6	25800	broad.mit.edu	37	18	33689681	33689681	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr18:33689681T>A	ENST00000590986.1	-	10	2432	c.2143A>T	c.(2143-2145)Agt>Tgt	p.S715C	SLC39A6_ENST00000269187.5_Missense_Mutation_p.S715C			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	715					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CCATGGTCACTAGCATCATTG	0.328																																						uc010dmy.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2143-2145)AGT>TGT		solute carrier family 39 (zinc transporter),							121.0	119.0	120.0					18																	33689681		1825	4083	5908	SO:0001583	missense	25800					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	g.chr18:33689681T>A	U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.2143A>T	18.37:g.33689681T>A	ENSP00000465915:p.Ser715Cys						p.S715C	NM_012319	NP_036451	Q13433	S39A6_HUMAN			10	2433	-			715			Cytoplasmic (Potential).		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	ENST00000590986.1	37	c.2143A>T	CCDS42428.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.599771	0.66332	.	.	ENSG00000141424	ENST00000269187;ENST00000543723	T	0.53857	0.6	5.53	4.35	0.52113	.	0.075166	0.85682	D	0.000000	T	0.59542	0.2201	L	0.33339	1.005	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.60627	-0.7226	10	0.62326	D	0.03	-10.6477	10.3946	0.44192	0.1467:0.0:0.0:0.8533	.	715	Q13433	S39A6_HUMAN	C	715;370	ENSP00000269187:S715C	ENSP00000269187:S715C	S	-	1	0	SLC39A6	31943679	0.986000	0.35501	1.000000	0.80357	0.988000	0.76386	1.852000	0.39348	1.006000	0.39211	0.482000	0.46254	AGT		0.328	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			33	69	0	0	0	0	33	69				
DCC	1630	broad.mit.edu	37	18	50731677	50731677	+	Missense_Mutation	SNP	C	C	A	rs375191257		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr18:50731677C>A	ENST00000442544.2	+	10	2281	c.1665C>A	c.(1663-1665)aaC>aaA	p.N555K	DCC_ENST00000412726.1_Missense_Mutation_p.N403K|DCC_ENST00000581580.1_Missense_Mutation_p.N210K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	555	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCTATGCAAACGGTCCAGTCC	0.478																																						uc002lfe.1		NA																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(1663-1665)AAC>AAA		netrin receptor DCC precursor							200.0	190.0	193.0					18																	50731677		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50731677C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1665C>A	18.37:g.50731677C>A	ENSP00000389140:p.Asn555Lys					DCC_uc010xdr.1_Missense_Mutation_p.N403K|DCC_uc010dpf.1_Missense_Mutation_p.N210K	p.N555K	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	10	2252	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	555			Extracellular (Potential).|Fibronectin type-III 2.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1665C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575691	0.28092	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.59502	0.26;0.26	5.78	2.13	0.27403	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74183	0.3683	M	0.85945	2.785	0.42479	D	0.992855	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.79108	0.987;0.976;0.992	T	0.73553	-0.3946	10	0.72032	D	0.01	.	8.7873	0.34830	0.0:0.2206:0.0:0.7794	.	403;403;555	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	K	555;488;403	ENSP00000389140:N555K;ENSP00000397322:N403K	ENSP00000304146:N488K	N	+	3	2	DCC	48985675	0.990000	0.36364	1.000000	0.80357	0.996000	0.88848	0.089000	0.15002	0.136000	0.18733	-0.238000	0.12139	AAC		0.478	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		48	102	1	0	9.58e-29	1.34e-28	48	102				
HMHA1	23526	broad.mit.edu	37	19	1080350	1080350	+	Silent	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:1080350T>A	ENST00000313093.2	+	14	2031	c.1800T>A	c.(1798-1800)acT>acA	p.T600T	HMHA1_ENST00000536472.1_Silent_p.T440T|HMHA1_ENST00000590214.1_Silent_p.T627T|HMHA1_ENST00000539243.2_Silent_p.T616T|HMHA1_ENST00000543365.1_Silent_p.T483T|HMHA1_ENST00000590577.1_Silent_p.T235T|HMHA1_ENST00000586866.1_Silent_p.T604T	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	600					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GCGGGTGCACTGAGGGCACAC	0.706																																						uc002lqz.1		NA																	0				lung(1)	1						c.(1798-1800)ACT>ACA		minor histocompatibility antigen HA-1							31.0	38.0	36.0					19																	1080350		2201	4298	6499	SO:0001819	synonymous_variant	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1080350T>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1800T>A	19.37:g.1080350T>A						HMHA1_uc010xgd.1_Silent_p.T616T|HMHA1_uc010xge.1_Silent_p.T440T|HMHA1_uc002lra.1_Silent_p.T440T|HMHA1_uc002lrb.1_Silent_p.T483T|HMHA1_uc002lrc.1_Silent_p.T235T|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	p.T600T	NM_012292	NP_036424	Q92619	HMHA1_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)	14	2031	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	600					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	c.1800T>A	CCDS32863.1																																																																																				0.706	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			6	29	0	0	0	0	6	29				
MUC16	94025	broad.mit.edu	37	19	9045667	9045667	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:9045667G>A	ENST00000397910.4	-	5	36167	c.35964C>T	c.(35962-35964)gcC>gcT	p.A11988A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11990	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTTGTCTTGGCCACAGTGG	0.493																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(35962-35964)GCC>GCT		mucin 16							182.0	181.0	182.0					19																	9045667		1986	4163	6149	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9045667G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35964C>T	19.37:g.9045667G>A							p.A11988A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	36168	-			11990			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.35964C>T	CCDS54212.1																																																																																				0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	47	0	0	0	0	11	47				
ZNF177	7730	broad.mit.edu	37	19	9492182	9492182	+	Missense_Mutation	SNP	G	G	C	rs200228196		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:9492182G>C	ENST00000589262.1	+	6	1241	c.1175G>C	c.(1174-1176)gGa>gCa	p.G392A	ZNF177_ENST00000541595.2_Missense_Mutation_p.G232A|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000343499.4_Missense_Mutation_p.G232A|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000434737.2_Missense_Mutation_p.G392A|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000602738.1_Missense_Mutation_p.G232A	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	392					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						TCTCACACTGGAGAGAAGCCT	0.468																																						uc002mli.2		NA																	0				ovary(1)	1						c.(694-696)GGA>GCA		zinc finger protein 177							171.0	170.0	171.0					19																	9492182		2203	4300	6503	SO:0001583	missense	7730				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9492182G>C	U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.1175G>C	19.37:g.9492182G>C	ENSP00000468531:p.Gly392Ala					ZNF177_uc002mlj.2_Missense_Mutation_p.G182A|ZNF177_uc002mlk.2_Missense_Mutation_p.G232A	p.G232A	NM_003451	NP_003442	Q13360	ZN177_HUMAN			12	1358	+			232					B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	ENST00000589262.1	37	c.695G>C	CCDS54214.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216521	0.39201	.	.	ENSG00000188629	ENST00000541595;ENST00000343499;ENST00000434737	T;T;T	0.01505	4.82;4.82;4.82	2.49	2.49	0.30216	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04272	0.0118	M	0.68952	2.095	0.25431	N	0.988187	D;D	0.60575	0.975;0.988	P;P	0.51999	0.614;0.687	T	0.14309	-1.0477	8	0.72032	D	0.01	.	5.2647	0.15593	0.1592:0.0:0.8408:0.0	.	392;232	B4DY57;Q13360	.;ZN177_HUMAN	A	232;232;392	ENSP00000445323:G232A;ENSP00000341497:G232A;ENSP00000415070:G392A	ENSP00000341497:G232A	G	+	2	0	ZNF177	9353182	0.988000	0.35896	1.000000	0.80357	0.587000	0.36485	2.132000	0.42083	1.718000	0.51419	0.563000	0.77884	GGA		0.468	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	NM_003451		34	92	0	0	0	0	34	92				
RAD23A	5886	broad.mit.edu	37	19	13060139	13060139	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:13060139A>T	ENST00000586534.1	+	7	791	c.730A>T	c.(730-732)Atg>Ttg	p.M244L	RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000592268.1_Missense_Mutation_p.M244L|RAD23A_ENST00000541222.1_Missense_Mutation_p.M79L|RAD23A_ENST00000316856.3_Missense_Mutation_p.M243L			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	244					nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GTTCCAGAACATGCGGCAGGT	0.637								Nucleotide excision repair (NER)																														uc002mvw.1		NA																	0				central_nervous_system(1)	1						c.(730-732)ATG>TTG	NER	UV excision repair protein RAD23 homolog A							60.0	64.0	63.0					19																	13060139		2203	4300	6503	SO:0001583	missense	5886				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr19:13060139A>T		CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"""RAD23, yeast homolog, A"""	600061	"""RAD23 (S. cerevisiae) homolog A"""			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.730A>T	19.37:g.13060139A>T	ENSP00000467024:p.Met244Leu					RAD23A_uc002mvx.1_Missense_Mutation_p.M243L|RAD23A_uc002mvz.1_Missense_Mutation_p.M243L|RAD23A_uc002mwa.1_Missense_Mutation_p.M244L|RAD23A_uc002mvy.1_Missense_Mutation_p.M78L|RAD23A_uc010xmw.1_Missense_Mutation_p.M79L	p.M244L	NM_005053	NP_005044	P54725	RD23A_HUMAN			7	839	+			244					K7ESE3|Q59EU8|Q5M7Z1	Missense_Mutation	SNP	ENST00000586534.1	37	c.730A>T	CCDS12289.1	.	.	.	.	.	.	.	.	.	.	A	12.52	1.962388	0.34659	.	.	ENSG00000179262	ENST00000316856;ENST00000541222	T	0.17054	2.3	5.03	5.03	0.67393	XPC-binding domain (3);Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	N	0.21508	0.67	0.58432	D	0.999992	B;B;B	0.22211	0.033;0.001;0.066	B;B;P	0.47102	0.35;0.03;0.537	T	0.06338	-1.0832	10	0.02654	T	1	-24.399	13.7447	0.62868	1.0:0.0:0.0:0.0	.	243;260;244	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	L	244;79	ENSP00000438741:M79L	ENSP00000321365:M244L	M	+	1	0	RAD23A	12921139	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.566000	0.90734	1.899000	0.54978	0.533000	0.62120	ATG		0.637	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1	NM_005053		34	14	0	0	0	0	34	14				
EPS15L1	58513	broad.mit.edu	37	19	16528864	16528864	+	Silent	SNP	C	C	A	rs371858696		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:16528864C>A	ENST00000248070.6	-	11	1141	c.1002G>T	c.(1000-1002)gcG>gcT	p.A334A	EPS15L1_ENST00000455140.2_Silent_p.A334A|EPS15L1_ENST00000602009.1_Silent_p.A180A|EPS15L1_ENST00000535753.2_Silent_p.A334A|EPS15L1_ENST00000597937.1_Silent_p.A334A|EPS15L1_ENST00000594975.1_Silent_p.A334A	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	334	EH 3. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ACATAGCTAACGCGAATTGGT	0.562											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ndz.1		NA																	0				ovary(3)|skin(2)	5						c.(1000-1002)GCG>GCT		epidermal growth factor receptor pathway							230.0	167.0	188.0					19																	16528864		2203	4300	6503	SO:0001819	synonymous_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16528864C>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1002G>T	19.37:g.16528864C>A			OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	711	EPS15L1_uc002ndx.2_Silent_p.A334A|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.A224A|EPS15L1_uc010xpf.1_Silent_p.A237A|EPS15L1_uc002nea.1_Silent_p.A334A|EPS15L1_uc010eah.1_Silent_p.A334A|EPS15L1_uc002neb.1_Silent_p.A180A|EPS15L1_uc002nec.1_Silent_p.A334A	p.A334A	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			11	1008	-			334			EH 3.		A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	c.1002G>T	CCDS32944.1																																																																																				0.562	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		39	20	1	0	6.2e-25	8.54e-25	39	20				
SIN3B	23309	broad.mit.edu	37	19	16962311	16962311	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:16962311C>T	ENST00000248054.5	+	6	836	c.815C>T	c.(814-816)cCc>cTc	p.P272L	SIN3B_ENST00000596802.1_Missense_Mutation_p.P272L|SIN3B_ENST00000379803.1_Missense_Mutation_p.P272L					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGCTCCCGGCCCTCGCTCCTC	0.652																																						uc002ney.1		NA																	0				ovary(2)	2						c.(814-816)CCC>CTC		SIN3 homolog B, transcription regulator							71.0	75.0	74.0					19																	16962311		2203	4300	6503	SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16962311C>T	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.815C>T	19.37:g.16962311C>T	ENSP00000248054:p.Pro272Leu					SIN3B_uc002new.2_Missense_Mutation_p.P272L|SIN3B_uc002nex.2_Missense_Mutation_p.P204L|SIN3B_uc002nez.1_Missense_Mutation_p.P272L	p.P272L	NM_015260	NP_056075	O75182	SIN3B_HUMAN			6	829	+			272						Missense_Mutation	SNP	ENST00000248054.5	37	c.815C>T		.	.	.	.	.	.	.	.	.	.	C	24.8	4.571952	0.86542	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.49139	0.79;0.82	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.47432	0.1445	L	0.58810	1.83	0.80722	D	1	B;B;P	0.38767	0.356;0.004;0.646	B;B;B	0.39094	0.239;0.011;0.29	T	0.46091	-0.9216	10	0.36615	T	0.2	-20.8562	15.84	0.78837	0.0:1.0:0.0:0.0	.	272;272;272	O75182-2;O75182;O75182-3	.;SIN3B_HUMAN;.	L	272	ENSP00000369131:P272L;ENSP00000248054:P272L	ENSP00000248054:P272L	P	+	2	0	SIN3B	16823311	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	5.249000	0.65427	2.416000	0.81992	0.655000	0.94253	CCC		0.652	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		11	49	0	0	0	0	11	49				
CPAMD8	27151	broad.mit.edu	37	19	17039991	17039991	+	Missense_Mutation	SNP	G	G	T	rs200258917	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:17039991G>T	ENST00000443236.1	-	24	3077	c.3046C>A	c.(3046-3048)Cgc>Agc	p.R1016S		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	969						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CGGGTGAGGCGCAGTGGCCGC	0.582																																						uc002nfb.2		NA																	0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(3046-3048)CGC>AGC		C3 and PZP-like, alpha-2-macroglobulin domain							47.0	54.0	51.0					19																	17039991		2111	4230	6341	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17039991G>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3046C>A	19.37:g.17039991G>T	ENSP00000402505:p.Arg1016Ser						p.R1016S	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			24	3078	-			969					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.3046C>A	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.169|7.169	0.587193|0.587193	0.13812|0.13812	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	3.4|3.4	1.1|1.1	0.20463|0.20463	.|.	.|0.577212	.|0.15329	.|U	.|0.268138	.|T	.|0.29588	.|0.0738	L|L	0.51422|0.51422	1.61|1.61	0.18873|0.18873	N|N	0.999982|0.999982	.|B	.|0.28350	.|0.208	.|B	.|0.26094	.|0.066	.|T	.|0.28170	.|-1.0052	.|9	.|0.08837	.|T	.|0.75	.|.	7.6081|7.6081	0.28113|0.28113	0.0957:0.1666:0.7377:0.0|0.0957:0.1666:0.7377:0.0	.|.	.|969	.|Q8IZJ3	.|CPMD8_HUMAN	X|S	1026|1016	.|.	.|ENSP00000291440:R1016S	C|R	-|-	3|1	2|0	CPAMD8|CPAMD8	16900991|16900991	0.311000|0.311000	0.24536|0.24536	0.001000|0.001000	0.08648|0.08648	0.398000|0.398000	0.30690|0.30690	2.314000|2.314000	0.43743|0.43743	0.002000|0.002000	0.14630|0.14630	0.655000|0.655000	0.94253|0.94253	TGC|CGC		0.582	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		19	13	1	0	2.46e-09	2.96e-09	19	13				
FCHO1	23149	broad.mit.edu	37	19	17892276	17892276	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:17892276C>T	ENST00000596536.1	+	22	2039	c.1756C>T	c.(1756-1758)Ccc>Tcc	p.P586S	FCHO1_ENST00000389133.4_Missense_Mutation_p.P586S|FCHO1_ENST00000252771.7_Missense_Mutation_p.P586S|FCHO1_ENST00000597512.1_Missense_Mutation_p.P593S|FCHO1_ENST00000539407.1_Missense_Mutation_p.P586S|FCHO1_ENST00000594202.1_Missense_Mutation_p.P586S|FCHO1_ENST00000596951.1_Missense_Mutation_p.P586S|FCHO1_ENST00000600676.1_Missense_Mutation_p.P586S|FCHO1_ENST00000595033.1_Missense_Mutation_p.P536S	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	586					clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TTCCCTGAGCCCCTCCCCACT	0.637																																						uc010ebb.2		NA																	0				breast(1)	1						c.(1756-1758)CCC>TCC		FCH domain only 1 isoform b							68.0	52.0	58.0					19																	17892276		2203	4300	6503	SO:0001583	missense	23149							g.chr19:17892276C>T	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.1756C>T	19.37:g.17892276C>T	ENSP00000470731:p.Pro586Ser					FCHO1_uc002nhg.3_Missense_Mutation_p.P586S|FCHO1_uc002nhh.2_Missense_Mutation_p.P586S|FCHO1_uc010xpw.1_Missense_Mutation_p.P536S|FCHO1_uc002nhi.2_Missense_Mutation_p.P42S|FCHO1_uc002nhj.2_5'UTR	p.P586S	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN			21	1945	+			586					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.1756C>T	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.237131	0.22711	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.34859	1.34;1.34;1.34	4.45	3.41	0.39046	.	0.727040	0.12795	N	0.438572	T	0.26484	0.0647	L	0.31065	0.9	0.35828	D	0.825077	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.16041	-1.0416	10	0.52906	T	0.07	-16.0098	8.3942	0.32546	0.0:0.8875:0.0:0.1125	.	586;586	O14526;O14526-2	FCHO1_HUMAN;.	S	586	ENSP00000252771:P586S;ENSP00000373785:P586S;ENSP00000437978:P586S	ENSP00000252771:P586S	P	+	1	0	FCHO1	17753276	0.998000	0.40836	1.000000	0.80357	0.886000	0.51366	1.208000	0.32345	0.848000	0.35191	0.491000	0.48974	CCC		0.637	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		18	12	0	0	0	0	18	12				
WDR62	284403	broad.mit.edu	37	19	36557244	36557244	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:36557244C>A	ENST00000270301.7	+	5	476	c.476C>A	c.(475-477)gCg>gAg	p.A159E	WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000401500.2_Missense_Mutation_p.A159E|WDR62_ENST00000388999.3_Missense_Mutation_p.A159E			O43379	WDR62_HUMAN	WD repeat domain 62	159					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TATGGTGTGGCGTGTGTGGCC	0.562																																						uc002odc.2		NA																	0					0						c.(475-477)GCG>GAG		WD repeat domain 62 isoform 2							177.0	119.0	138.0					19																	36557244		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36557244C>A	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.476C>A	19.37:g.36557244C>A	ENSP00000270301:p.Ala159Glu					WDR62_uc002odd.2_Missense_Mutation_p.A159E|WDR62_uc002odb.2_Missense_Mutation_p.A159E	p.A159E	NM_173636	NP_775907	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		5	567	+	Esophageal squamous(110;0.162)		159			WD 2.		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.476C>A	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900032	0.92035	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000378860;ENST00000270301;ENST00000427823	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.79	4.76	0.60689	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.053536	0.85682	D	0.000000	T	0.58119	0.2100	N	0.25426	0.745	0.37661	D	0.922776	D;D;P	0.76494	0.999;0.998;0.946	D;D;P	0.74674	0.984;0.971;0.69	T	0.63198	-0.6691	10	0.42905	T	0.14	-16.9777	12.6691	0.56857	0.0:0.9206:0.0:0.0794	.	159;159;159	O43379-4;O43379;O43379-3	.;WDR62_HUMAN;.	E	159;159;159;159;181	ENSP00000384792:A159E;ENSP00000373651:A159E;ENSP00000368137:A159E;ENSP00000270301:A159E	ENSP00000270301:A159E	A	+	2	0	WDR62	41249084	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.822000	0.69265	1.484000	0.48361	-0.142000	0.14014	GCG		0.562	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		7	6	1	0	1.26e-09	1.52e-09	7	6				
ZFP82	284406	broad.mit.edu	37	19	36884242	36884242	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:36884242C>A	ENST00000392161.3	-	5	1242	c.1000G>T	c.(1000-1002)Ggt>Tgt	p.G334C	ZFP82_ENST00000392171.1_Missense_Mutation_p.G334C	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	334					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGTTTCTCACCAGTATGAAGT	0.433																																						uc002ody.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1000-1002)GGT>TGT		zinc finger protein 82 homolog							102.0	103.0	102.0					19																	36884242		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884242C>A	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1000G>T	19.37:g.36884242C>A	ENSP00000431265:p.Gly334Cys						p.G334C	NM_133466	NP_597723	Q8N141	ZFP82_HUMAN			5	1235	-			334					Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.1000G>T	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027040	0.54683	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.26660	1.72;1.72	4.29	4.29	0.51040	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42548	D	0.000685	T	0.56108	0.1963	M	0.91612	3.225	0.39537	D	0.968762	D	0.89917	1.0	D	0.97110	1.0	T	0.65890	-0.6058	10	0.87932	D	0	.	10.3697	0.44046	0.0:0.9036:0.0:0.0964	.	334	Q8N141	ZFP82_HUMAN	C	334	ENSP00000431265:G334C;ENSP00000446080:G334C	ENSP00000431265:G334C	G	-	1	0	ZFP82	41576082	0.379000	0.25123	1.000000	0.80357	0.998000	0.95712	4.580000	0.60942	2.400000	0.81607	0.655000	0.94253	GGT		0.433	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		24	103	1	0	7.88e-14	1.01e-13	24	103				
ZNF829	374899	broad.mit.edu	37	19	37382725	37382725	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:37382725G>A	ENST00000391711.3	-	6	1332	c.968C>T	c.(967-969)cCt>cTt	p.P323L	ZNF829_ENST00000520965.1_Missense_Mutation_p.P404L|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	323					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATTCATAAGGTTTCTCACC	0.403																																						uc002ofa.1		NA																	0					0						c.(967-969)CCT>CTT		zinc finger protein 829							77.0	78.0	77.0					19																	37382725		2199	4300	6499	SO:0001583	missense	374899				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37382725G>A	BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.968C>T	19.37:g.37382725G>A	ENSP00000429266:p.Pro323Leu					ZNF345_uc002oez.2_Intron	p.P323L	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1330	-	Esophageal squamous(110;0.183)		323					Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	37	c.968C>T	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909374	0.72868	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.17054	2.3	2.95	2.95	0.34219	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35068	0.0919	M	0.74258	2.255	0.53688	D	0.999975	D	0.64830	0.994	P	0.57620	0.824	T	0.36744	-0.9735	9	0.62326	D	0.03	.	13.7668	0.62999	0.0:0.0:1.0:0.0	.	323	Q3KNS6	ZN829_HUMAN	L	323	ENSP00000429266:P323L	ENSP00000429266:P323L	P	-	2	0	ZNF829	42074565	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.358000	0.52284	1.967000	0.57214	0.650000	0.86243	CCT		0.403	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232		17	68	0	0	0	0	17	68				
ZNF585B	92285	broad.mit.edu	37	19	37676276	37676276	+	Silent	SNP	A	A	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:37676276A>G	ENST00000532828.2	-	5	2414	c.2163T>C	c.(2161-2163)gcT>gcC	p.A721A	ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Silent_p.A666A|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Silent_p.A309A	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	721					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCCACACTCAGCACACACGT	0.463																																					Melanoma(93;882 1454 18863 28917 48427)	uc002ofq.2		NA																	0				ovary(1)	1						c.(2161-2163)GCT>GCC		zinc finger protein 585B							163.0	136.0	145.0					19																	37676276		2203	4300	6503	SO:0001819	synonymous_variant	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37676276A>G	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.2163T>C	19.37:g.37676276A>G						uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Silent_p.A535A	p.A721A	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2417	-			721			C2H2-type 20.		Q8IZD3|Q96JW6	Silent	SNP	ENST00000532828.2	37	c.2163T>C	CCDS12500.1																																																																																				0.463	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		37	115	0	0	0	0	37	115				
FAM98C	147965	broad.mit.edu	37	19	38893838	38893838	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:38893838C>T	ENST00000252530.5	+	1	64	c.45C>T	c.(43-45)gcC>gcT	p.A15A	FAM98C_ENST00000588262.1_Silent_p.A15A|FAM98C_ENST00000343358.7_Silent_p.A15A	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	15										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGCGGTGGCCCAGGACCTGC	0.697																																						uc002oin.1		NA																	0				skin(1)	1						c.(43-45)GCC>GCT		hypothetical protein LOC147965							15.0	23.0	21.0					19																	38893838		2055	4179	6234	SO:0001819	synonymous_variant	147965							g.chr19:38893838C>T		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.45C>T	19.37:g.38893838C>T						FAM98C_uc002oio.1_Silent_p.A15A|FAM98C_uc010xtz.1_Silent_p.A15A	p.A15A	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		1	64	+	all_cancers(60;3.95e-06)		15					A6NMW3|Q66K45	Silent	SNP	ENST00000252530.5	37	c.45C>T	CCDS42562.1																																																																																				0.697	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		18	11	0	0	0	0	18	11				
ECH1	1891	broad.mit.edu	37	19	39322049	39322049	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:39322049T>A	ENST00000221418.4	-	2	392	c.160A>T	c.(160-162)Agc>Tgc	p.S54C	ECH1_ENST00000597805.1_Intron|AC104534.3_ENST00000594769.1_Silent_p.T223T	NM_001398.2	NP_001389.2	Q13011	ECH1_HUMAN	enoyl CoA hydratase 1, peroxisomal	54					fatty acid beta-oxidation (GO:0006635)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	isomerase activity (GO:0016853)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GACTCATAGCTGTGGTCTGGG	0.567																																						uc002ojj.1		NA																	0					0						c.(787-789)AGC>TGC		heterogeneous nuclear ribonucleoprotein L							92.0	89.0	90.0					19																	39322049		2203	4300	6503	SO:0001583	missense	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39322049T>A	U16660	CCDS33014.1	19q13.1	2010-04-30	2010-04-30			ENSG00000104823			3149	protein-coding gene	gene with protein product		600696	"""enoyl Coenzyme A hydratase 1, peroxisomal"""			7558027	Standard	XM_005258610		Approved	HPXEL		Q13011		ENST00000221418.4:c.160A>T	19.37:g.39322049T>A	ENSP00000221418:p.Ser54Cys					ECH1_uc002oji.2_Missense_Mutation_p.S54C|ECH1_uc010xuk.1_Missense_Mutation_p.S54C|HNRNPL_uc010ege.1_Intron	p.S263C	NM_001005335	NP_001005335	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		6	867	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Error:Variant_position_missing_in_P14866_after_alignment					A8K745|Q8WVX0|Q96EZ9	Missense_Mutation	SNP	ENST00000221418.4	37	c.787A>T	CCDS33014.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652376	0.67472	.	.	ENSG00000104823	ENST00000221418	T	0.65732	-0.17	5.73	4.65	0.58169	.	0.614906	0.18440	N	0.141172	T	0.35770	0.0943	N	0.08118	0	0.25328	N	0.989055	D;D	0.54964	0.969;0.957	B;B	0.39531	0.302;0.205	T	0.28650	-1.0037	10	0.66056	D	0.02	.	5.1119	0.14813	0.0:0.1159:0.1855:0.6986	.	54;54	B4DVS4;Q13011	.;ECH1_HUMAN	C	54	ENSP00000221418:S54C	ENSP00000221418:S54C	S	-	1	0	ECH1	44013889	0.986000	0.35501	1.000000	0.80357	0.641000	0.38312	2.174000	0.42482	2.190000	0.69967	0.533000	0.62120	AGC		0.567	ECH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462650.1			40	80	0	0	0	0	40	80				
PRX	57716	broad.mit.edu	37	19	40901621	40901621	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:40901621C>T	ENST00000324001.7	-	7	2908	c.2638G>A	c.(2638-2640)Gag>Aag	p.E880K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	880					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCACCCGCTCTCCCTTGCCC	0.632																																						uc002onr.2		NA																	0				ovary(2)	2						c.(2638-2640)GAG>AAG		periaxin isoform 2							38.0	46.0	43.0					19																	40901621		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901621C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2638G>A	19.37:g.40901621C>T	ENSP00000326018:p.Glu880Lys					PRX_uc002onq.2_Missense_Mutation_p.E741K|PRX_uc002ons.2_3'UTR	p.E880K	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2907	-			880					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.2638G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583048	0.28268	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01099	5.34	4.46	4.46	0.54185	.	0.185859	0.26871	N	0.022073	T	0.02571	0.0078	L	0.27053	0.805	0.49483	D	0.999798	D	0.71674	0.998	P	0.60789	0.879	T	0.73874	-0.3845	10	0.29301	T	0.29	-20.9109	14.6748	0.68972	0.0:1.0:0.0:0.0	.	880	Q9BXM0	PRAX_HUMAN	K	880	ENSP00000326018:E880K	ENSP00000326018:E880K	E	-	1	0	PRX	45593461	0.916000	0.31088	0.370000	0.25965	0.012000	0.07955	1.193000	0.32162	2.057000	0.61298	0.650000	0.86243	GAG		0.632	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		9	26	0	0	0	0	9	26				
IRGQ	126298	broad.mit.edu	37	19	44096234	44096234	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:44096234C>T	ENST00000602269.1	-	2	2001	c.1816G>A	c.(1816-1818)Gat>Aat	p.D606N	IRGQ_ENST00000601520.1_Intron|L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000422989.1_Missense_Mutation_p.D606N			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	606	Ala-rich.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CGCATCTCATCGAGAGCCTGC	0.682																																						uc002oww.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1816-1818)GAT>AAT		immunity-related GTPase family, Q							49.0	58.0	55.0					19																	44096234		2201	4295	6496	SO:0001583	missense	126298						protein binding	g.chr19:44096234C>T	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1816G>A	19.37:g.44096234C>T	ENSP00000472250:p.Asp606Asn					IRGQ_uc010eiv.2_Missense_Mutation_p.D606N	p.D606N	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN			2	1934	-		Prostate(69;0.0199)	606			Ala-rich.		B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	c.1816G>A	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	4.839	0.155963	0.09236	.	.	ENSG00000167378	ENST00000422989	T	0.49139	0.79	4.9	2.73	0.32206	.	0.483238	0.19260	N	0.118694	T	0.35422	0.0931	L	0.46157	1.445	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.18840	-1.0324	10	0.21540	T	0.41	-23.7698	6.9062	0.24311	0.0:0.7831:0.0:0.2169	.	606	Q8WZA9	IRGQ_HUMAN	N	606	ENSP00000387535:D606N	ENSP00000387535:D606N	D	-	1	0	IRGQ	48788074	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.278000	0.18753	0.727000	0.32360	0.655000	0.94253	GAT		0.682	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		16	93	0	0	0	0	16	93				
GYS1	2997	broad.mit.edu	37	19	49484827	49484827	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:49484827C>A	ENST00000323798.3	-	8	1325	c.1129G>T	c.(1129-1131)Gtg>Ttg	p.V377L	GYS1_ENST00000544287.1_Missense_Mutation_p.V10L|GYS1_ENST00000541188.1_Missense_Mutation_p.V297L|GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000263276.6_Missense_Mutation_p.V313L	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	377					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AGGGTTTCCACGTTGAAATTG	0.597																																						uc002plp.2		NA																	0				ovary(2)	2						c.(1129-1131)GTG>TTG		glycogen synthase 1 (muscle) isoform 1							145.0	121.0	129.0					19																	49484827		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49484827C>A		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1129G>T	19.37:g.49484827C>A	ENSP00000317904:p.Val377Leu					GYS1_uc010xzy.1_Missense_Mutation_p.V10L|GYS1_uc010emm.2_Missense_Mutation_p.V313L|GYS1_uc010xzz.1_Missense_Mutation_p.V297L|GYS1_uc010yaa.1_RNA	p.V377L	NM_002103	NP_002094	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	8	1370	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	377					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.1129G>T	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	c	34	5.357909	0.95854	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.85279	0.5660	M	0.85197	2.74	0.80722	D	1	D;D;D	0.76494	0.998;0.992;0.999	D;D;D	0.91635	0.996;0.958;0.999	D	0.87493	0.2428	10	0.62326	D	0.03	-24.1449	15.7287	0.77784	0.0:1.0:0.0:0.0	.	297;313;377	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	L	377;313;297;10	ENSP00000317904:V377L;ENSP00000263276:V313L;ENSP00000437922:V297L;ENSP00000444004:V10L	ENSP00000263276:V313L	V	-	1	0	GYS1	54176639	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.632000	0.83247	2.378000	0.81104	0.506000	0.49869	GTG		0.597	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		26	18	1	0	2.5e-26	3.46e-26	26	18				
LILRA2	11027	broad.mit.edu	37	19	55087488	55087488	+	Missense_Mutation	SNP	C	C	A	rs140195058	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:55087488C>A	ENST00000251377.3	+	7	1300	c.1167C>A	c.(1165-1167)caC>caA	p.H389Q	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.H389Q|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H389Q|LILRA2_ENST00000391737.1_Missense_Mutation_p.H377Q			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	389	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCTCAGCCCACGTGGGGACCT	0.622																																						uc002qgg.3		NA																	0				ovary(1)	1						c.(1165-1167)CAC>CAA		leukocyte immunoglobulin-like receptor,							122.0	104.0	110.0					19																	55087488		2203	4300	6503	SO:0001583	missense	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55087488C>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1167C>A	19.37:g.55087488C>A	ENSP00000251377:p.His389Gln					LILRA2_uc010ern.2_Missense_Mutation_p.H389Q|LILRA2_uc002qgf.2_Missense_Mutation_p.H389Q|LILRA2_uc010yfe.1_Missense_Mutation_p.H389Q|LILRA2_uc010yff.1_Missense_Mutation_p.H377Q|LILRA2_uc010ero.2_Missense_Mutation_p.H377Q|LILRA2_uc010yfg.1_Intron	p.H389Q	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	6	1256	+			389			Ig-like C2-type 4.|Extracellular (Potential).		O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.1167C>A	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498385	0.26861	.	.	ENSG00000239998	ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T	0.03496	3.91;3.91;3.91;3.91	2.42	-2.61	0.06171	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.137960	0.06877	N	0.801812	T	0.11665	0.0284	M	0.64170	1.965	0.09310	N	1	P;P;D	0.71674	0.953;0.947;0.998	P;P;D	0.70487	0.733;0.797;0.969	T	0.25813	-1.0121	9	.	.	.	.	6.2806	0.21005	0.0:0.3622:0.0:0.6378	.	377;389;389	A8MZH0;Q8N149;Q8N149-2	.;LIRA2_HUMAN;.	Q	389;389;389;377	ENSP00000251377:H389Q;ENSP00000375618:H389Q;ENSP00000251376:H389Q;ENSP00000375617:H377Q	.	H	+	3	2	LILRA2	59779300	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.933000	0.01553	-0.388000	0.07797	-0.357000	0.07601	CAC		0.622	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			43	78	1	0	9.15e-12	1.14e-11	43	78				
NLRP8	126205	broad.mit.edu	37	19	56473475	56473475	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:56473475A>C	ENST00000291971.3	+	4	2156	c.2085A>C	c.(2083-2085)ttA>ttC	p.L695F	NLRP8_ENST00000590542.1_Missense_Mutation_p.L695F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	695					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGCAAGACTTATGCTCTGTGT	0.493																																						uc002qmh.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(2083-2085)TTA>TTC		NLR family, pyrin domain containing 8							212.0	180.0	191.0					19																	56473475		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56473475A>C	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2085A>C	19.37:g.56473475A>C	ENSP00000291971:p.Leu695Phe					NLRP8_uc010etg.2_Missense_Mutation_p.L695F	p.L695F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	4	2156	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	695					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2085A>C	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	A	5.699	0.313555	0.10789	.	.	ENSG00000179709	ENST00000291971	D	0.92545	-3.06	1.94	-0.655	0.11439	.	.	.	.	.	T	0.80844	0.4701	N	0.16833	0.445	0.09310	N	0.999998	B;B	0.18310	0.008;0.027	B;B	0.21360	0.004;0.034	T	0.65286	-0.6205	9	0.17369	T	0.5	.	3.9273	0.09269	0.2554:0.4194:0.3252:0.0	.	695;695	Q86W28-2;Q86W28	.;NALP8_HUMAN	F	695	ENSP00000291971:L695F	ENSP00000291971:L695F	L	+	3	2	NLRP8	61165287	0.891000	0.30450	0.026000	0.17262	0.072000	0.16883	0.287000	0.18920	-0.052000	0.13311	-0.439000	0.05793	TTA		0.493	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		44	85	0	0	0	0	44	85				
AURKC	6795	broad.mit.edu	37	19	57744010	57744010	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:57744010C>G	ENST00000302804.7	+	4	583	c.397C>G	c.(397-399)Cag>Gag	p.Q133E	AURKC_ENST00000599062.1_Missense_Mutation_p.Q130E|AURKC_ENST00000598785.1_Missense_Mutation_p.Q99E|AURKC_ENST00000448930.1_Missense_Mutation_p.Q99E|AURKC_ENST00000415300.2_Missense_Mutation_p.Q114E	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	133	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CAAGGAGCTGCAGAAAAGCGA	0.542																																						uc002qoe.2		NA																	0				lung(4)|ovary(2)	6						c.(397-399)CAG>GAG		aurora kinase C isoform 1							83.0	78.0	80.0					19																	57744010		2203	4300	6503	SO:0001583	missense	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57744010C>G		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.397C>G	19.37:g.57744010C>G	ENSP00000302898:p.Gln133Glu					AURKC_uc002qoc.2_Missense_Mutation_p.Q114E|AURKC_uc002qod.2_Missense_Mutation_p.Q99E|AURKC_uc010etv.2_Missense_Mutation_p.Q130E	p.Q133E	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	4	586	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	133			Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	c.397C>G	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502935	0.26949	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.64991	-0.13;-0.13;-0.13	3.81	2.74	0.32292	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059804	0.64402	D	0.000002	T	0.43122	0.1233	N	0.04724	-0.175	0.49687	D	0.99981	B;B;B	0.29162	0.235;0.199;0.121	B;B;B	0.36244	0.22;0.054;0.14	T	0.48948	-0.8989	10	0.72032	D	0.01	-14.6399	10.7299	0.46089	0.1918:0.8082:0.0:0.0	.	130;133;114	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	E	114;99;133	ENSP00000407162:Q114E;ENSP00000406798:Q99E;ENSP00000302898:Q133E	ENSP00000302898:Q133E	Q	+	1	0	AURKC	62435822	1.000000	0.71417	0.927000	0.36925	0.171000	0.22731	4.774000	0.62339	1.150000	0.42419	0.561000	0.74099	CAG		0.542	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		15	67	0	0	0	0	15	67				
TRAPPC12	51112	broad.mit.edu	37	2	3469391	3469391	+	Silent	SNP	G	G	C	rs116179331	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:3469391G>C	ENST00000324266.5	+	9	1896	c.1701G>C	c.(1699-1701)gcG>gcC	p.A567A	TRAPPC12_ENST00000382110.2_Silent_p.A567A|TRAPPC12_ENST00000469147.1_3'UTR	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	567					vesicle-mediated transport (GO:0016192)												CCGTGGAGGCGTATCATTCGG	0.527																																						uc002qxm.1		NA																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(1699-1701)GCG>GCC		tetratricopeptide repeat domain 15							124.0	118.0	120.0					2																	3469391		2203	4300	6503	SO:0001819	synonymous_variant	51112						binding	g.chr2:3469391G>C	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1701G>C	2.37:g.3469391G>C						TTC15_uc002qxn.1_Silent_p.A567A|TTC15_uc010ewm.1_Silent_p.A573A	p.A567A	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)	9	1907	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)	567			TPR 1.		B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	ENST00000324266.5	37	c.1701G>C	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	G	5.210	0.224308	0.09863	.	.	ENSG00000171853	ENST00000433382	.	.	.	5.65	-11.3	0.00108	.	.	.	.	.	T	0.31827	0.0809	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43065	-0.9414	4	.	.	.	.	1.6266	0.02724	0.1969:0.3806:0.2031:0.2194	.	.	.	.	L	113	.	.	V	+	1	0	TTC15	3448398	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.678000	0.00839	-3.198000	0.00218	-2.052000	0.00405	GTA		0.527	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		53	67	0	0	0	0	53	67				
FOSL2	2355	broad.mit.edu	37	2	28634831	28634831	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:28634831T>C	ENST00000264716.4	+	4	1360	c.497T>C	c.(496-498)cTg>cCg	p.L166P	FOSL2_ENST00000545753.1_Missense_Mutation_p.L127P|FOSL2_ENST00000379619.1_Missense_Mutation_p.L158P	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	166	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					AAGTCAGGCCTGCAGAAGGAG	0.582																																						uc002rma.2		NA																	0				ovary(2)|breast(1)	3						c.(496-498)CTG>CCG		FOS-like antigen 2							45.0	49.0	47.0					2																	28634831		2203	4300	6503	SO:0001583	missense	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28634831T>C		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.497T>C	2.37:g.28634831T>C	ENSP00000264716:p.Leu166Pro					FOSL2_uc010ymi.1_Missense_Mutation_p.L127P	p.L166P	NM_005253	NP_005244	P15408	FOSL2_HUMAN			4	1306	+	Acute lymphoblastic leukemia(172;0.155)		166			Leucine-zipper.		B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	c.497T>C	CCDS1766.1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.779361	0.70107	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000436647;ENST00000545753	D;T;T;T	0.83992	-1.79;-1.05;-1.05;-1.05	4.31	4.31	0.51392	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.071481	0.56097	D	0.000030	D	0.91549	0.7331	H	0.96015	3.755	0.80722	D	1	P	0.46512	0.879	P	0.51742	0.678	D	0.94141	0.7397	10	0.87932	D	0	-21.7541	14.5116	0.67791	0.0:0.0:0.0:1.0	.	166	P15408	FOSL2_HUMAN	P	158;166;127;127	ENSP00000368939:L158P;ENSP00000264716:L166P;ENSP00000396497:L127P;ENSP00000439303:L127P	ENSP00000264716:L166P	L	+	2	0	FOSL2	28488335	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.701000	0.84566	2.160000	0.67779	0.528000	0.53228	CTG		0.582	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		3	58	0	0	0	0	3	58				
VRK2	7444	broad.mit.edu	37	2	58373570	58373570	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:58373570G>T	ENST00000435505.2	+	15	1888	c.1143G>T	c.(1141-1143)gaG>gaT	p.E381D	VRK2_ENST00000440705.2_Missense_Mutation_p.E358D|VRK2_ENST00000412104.2_Missense_Mutation_p.E381D|VRK2_ENST00000417641.2_Missense_Mutation_p.E381D|VRK2_ENST00000340157.4_Missense_Mutation_p.E381D			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	381					cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TGCAGAAAGAGGAGAAACTGA	0.403																																						uc002rzo.2		NA																	0				ovary(1)	1						c.(1141-1143)GAG>GAT		vaccinia related kinase 2 isoform 2							229.0	240.0	236.0					2																	58373570		2203	4300	6503	SO:0001583	missense	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58373570G>T	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.1143G>T	2.37:g.58373570G>T	ENSP00000408002:p.Glu381Asp					VRK2_uc010fcb.2_Missense_Mutation_p.E381D|VRK2_uc002rzs.2_Missense_Mutation_p.E381D|VRK2_uc002rzr.2_Missense_Mutation_p.E381D|VRK2_uc010fcc.2_Missense_Mutation_p.E263D|VRK2_uc002rzv.2_Missense_Mutation_p.E381D|VRK2_uc010fcd.2_Missense_Mutation_p.E358D|VRK2_uc002rzp.2_Missense_Mutation_p.E381D|VRK2_uc010ypg.1_Missense_Mutation_p.E381D|VRK2_uc002rzq.2_Missense_Mutation_p.E381D|VRK2_uc002rzu.2_Missense_Mutation_p.E381D|VRK2_uc002rzt.2_Missense_Mutation_p.E263D	p.E381D	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN			15	1888	+			381					B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	ENST00000435505.2	37	c.1143G>T	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527274	0.27299	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705	T;T;T;T;T	0.05513	3.43;3.55;3.55;3.43;3.43	5.39	-2.16	0.07080	.	0.971136	0.08502	N	0.936344	T	0.05593	0.0147	L	0.56769	1.78	0.09310	N	1	B;B;B	0.17465	0.009;0.009;0.022	B;B;B	0.16722	0.016;0.016;0.011	T	0.48103	-0.9064	10	0.15952	T	0.53	0.0668	1.3411	0.02155	0.3712:0.2448:0.2589:0.1251	.	381;381;381	Q86Y07-2;Q86Y07-5;Q86Y07	.;.;VRK2_HUMAN	D	381;381;381;381;381;358	ENSP00000408002:E381D;ENSP00000402375:E381D;ENSP00000404156:E381D;ENSP00000342381:E381D;ENSP00000398323:E358D	ENSP00000342381:E381D	E	+	3	2	VRK2	58227074	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.525000	0.06214	-0.652000	0.05408	0.650000	0.86243	GAG		0.403	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		11	40	1	0	2.81e-09	3.37e-09	11	40				
ALMS1	7840	broad.mit.edu	37	2	73718480	73718480	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:73718480C>T	ENST00000264448.6	+	10	9502	c.9391C>T	c.(9391-9393)Ctt>Ttt	p.L3131F	ALMS1_ENST00000409009.1_Missense_Mutation_p.L3089F|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3131					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACAGCCTTCTCTTCCAGACAG	0.393																																						uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(9397-9399)CTT>TTT		Alstrom syndrome 1							101.0	93.0	96.0					2																	73718480		1851	4099	5950	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73718480C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.9391C>T	2.37:g.73718480C>T	ENSP00000264448:p.Leu3131Phe					ALMS1_uc002sjf.1_Missense_Mutation_p.L3089F|ALMS1_uc002sjg.2_Missense_Mutation_p.L2519F|ALMS1_uc002sjh.1_Missense_Mutation_p.L2519F	p.L3133F	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			12	9508	+			3131					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.9397C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880235	0.51801	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.10099	2.91;2.91	4.25	2.46	0.29980	.	0.185446	0.26635	N	0.023293	T	0.10423	0.0255	L	0.48642	1.525	0.80722	D	1	P;B;B	0.40931	0.733;0.356;0.356	B;B;B	0.40741	0.339;0.231;0.231	T	0.06356	-1.0831	10	0.87932	D	0	.	6.2998	0.21107	0.0:0.7825:0.0:0.2175	.	3131;3089;3131	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	F	3089;3131	ENSP00000386627:L3089F;ENSP00000264448:L3131F	ENSP00000264448:L3131F	L	+	1	0	ALMS1	73571988	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	0.306000	0.19279	0.756000	0.33013	0.645000	0.84053	CTT		0.393	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		42	67	0	0	0	0	42	67				
MOGS	7841	broad.mit.edu	37	2	74691753	74691753	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:74691753A>C	ENST00000233616.4	-	2	611	c.449T>G	c.(448-450)tTc>tGc	p.F150C	MOGS_ENST00000452063.2_Missense_Mutation_p.F44C|MOGS_ENST00000409065.1_Missense_Mutation_p.F150C|MOGS_ENST00000535045.1_Intron|MOGS_ENST00000462443.1_Intron	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	150					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GCCGTCGTGGAACTCCCAGCC	0.657																																						uc010ffj.2		NA																	0					0						c.(448-450)TTC>TGC		mannosyl-oligosaccharide glucosidase isoform 1							55.0	62.0	60.0					2																	74691753		1957	4161	6118	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74691753A>C	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.449T>G	2.37:g.74691753A>C	ENSP00000233616:p.Phe150Cys					MOGS_uc010ffh.2_5'Flank|MOGS_uc010yrt.1_Missense_Mutation_p.F31C|MOGS_uc010ffi.2_Missense_Mutation_p.F44C|MOGS_uc010yru.1_Intron	p.F150C	NM_006302	NP_006293	Q13724	MOGS_HUMAN			2	612	-			150			Lumenal (Potential).		A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.449T>G	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.946101	0.73672	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000409065;ENST00000448666;ENST00000414701	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.38	5.38	0.77491	.	0.155212	0.64402	D	0.000020	T	0.43010	0.1228	L	0.29908	0.895	0.80722	D	1	D	0.63880	0.993	P	0.60173	0.87	T	0.22068	-1.0227	10	0.38643	T	0.18	-9.3888	13.3999	0.60876	1.0:0.0:0.0:0.0	.	150	Q13724	MOGS_HUMAN	C	150;44;150;44;31	ENSP00000233616:F150C;ENSP00000388201:F44C;ENSP00000386493:F150C;ENSP00000410992:F44C;ENSP00000396298:F31C	ENSP00000233616:F150C	F	-	2	0	MOGS	74545261	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.889000	0.87307	2.254000	0.74563	0.533000	0.62120	TTC		0.657	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		26	55	0	0	0	0	26	55				
EVA1A	84141	broad.mit.edu	37	2	75720630	75720630	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:75720630C>T	ENST00000233712.1	-	4	628	c.191G>A	c.(190-192)aGg>aAg	p.R64K	EVA1A_ENST00000410113.1_Missense_Mutation_p.R64K|EVA1A_ENST00000393913.3_Missense_Mutation_p.R64K|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410010.1_Missense_Mutation_p.R52K|EVA1A_ENST00000410071.1_Missense_Mutation_p.R64K	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	64					apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											GGGACGCCGCCTGCAGTCTGT	0.607																																						uc002sni.2		NA																	0					0						c.(190-192)AGG>AAG		family with sequence similarity 176, member A							50.0	46.0	48.0					2																	75720630		2203	4300	6503	SO:0001583	missense	84141				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane		g.chr2:75720630C>T	BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.191G>A	2.37:g.75720630C>T	ENSP00000233712:p.Arg64Lys					FAM176A_uc002snj.1_Missense_Mutation_p.R51K|FAM176A_uc002snk.1_Missense_Mutation_p.R64K	p.R64K	NM_001135032	NP_001128504	Q9H8M9	F176A_HUMAN			4	669	-			64					D6W5J3|Q9HC41	Missense_Mutation	SNP	ENST00000233712.1	37	c.191G>A	CCDS1959.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385641	0.25031	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410010;ENST00000410071;ENST00000432649;ENST00000452003	T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1	4.9	1.03	0.20045	.	0.444559	0.26052	N	0.026637	T	0.22820	0.0551	N	0.17901	0.54	0.28822	N	0.897654	B	0.02656	0.0	B	0.01281	0.0	T	0.11817	-1.0572	10	0.29301	T	0.29	0.6861	6.9651	0.24619	0.0:0.5446:0.0:0.4554	.	64	Q9H8M9	F176A_HUMAN	K	64;64;64;52;64;64;64	ENSP00000377490:R64K;ENSP00000233712:R64K;ENSP00000386435:R64K;ENSP00000386835:R52K;ENSP00000386930:R64K;ENSP00000398249:R64K;ENSP00000388105:R64K	ENSP00000233712:R64K	R	-	2	0	FAM176A	75574138	0.995000	0.38212	0.165000	0.22776	0.387000	0.30353	1.022000	0.30052	0.300000	0.22699	0.650000	0.86243	AGG		0.607	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328707.1	NM_032181		25	29	0	0	0	0	25	29				
SNRNP200	23020	broad.mit.edu	37	2	96963242	96963242	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:96963242C>A	ENST00000323853.5	-	11	1313	c.1236G>T	c.(1234-1236)gaG>gaT	p.E412D	SNRNP200_ENST00000349783.5_Missense_Mutation_p.E412D	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	412					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AAACCAGGTCCTCCAAGTCCA	0.512																																						uc002svu.2		NA																	0				ovary(5)|skin(4)|large_intestine(1)	10						c.(1234-1236)GAG>GAT		activating signal cointegrator 1 complex subunit							33.0	33.0	33.0					2																	96963242		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96963242C>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1236G>T	2.37:g.96963242C>A	ENSP00000317123:p.Glu412Asp						p.E412D	NM_014014	NP_054733	O75643	U520_HUMAN			11	1322	-			412					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.1236G>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	7.514	0.655178	0.14580	.	.	ENSG00000144028	ENST00000323853;ENST00000349783;ENST00000540328	T;T	0.34472	1.36;1.36	5.44	1.58	0.23477	.	0.155475	0.56097	N	0.000027	T	0.16428	0.0395	N	0.17379	0.485	0.47476	D	0.999432	B	0.02656	0.0	B	0.04013	0.001	T	0.09729	-1.0661	10	0.10636	T	0.68	-24.2823	5.5671	0.17177	0.1298:0.5807:0.0:0.2896	.	412	O75643	U520_HUMAN	D	412;412;87	ENSP00000317123:E412D;ENSP00000326937:E412D	ENSP00000317123:E412D	E	-	3	2	SNRNP200	96326969	0.934000	0.31675	1.000000	0.80357	0.992000	0.81027	0.050000	0.14120	0.269000	0.21961	0.591000	0.81541	GAG		0.512	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		11	18	1	0	5.17e-11	6.38e-11	11	18				
ANKRD36	375248	broad.mit.edu	37	2	97869830	97869830	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:97869830G>C	ENST00000461153.2	+	49	3229	c.2985G>C	c.(2983-2985)ttG>ttC	p.L995F	ANKRD36_ENST00000420699.2_Missense_Mutation_p.L995F			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	995										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CACCAGGCTTGAAGGTAATGA	0.308																																						uc010yva.1		NA																	0					0						c.(2983-2985)TTG>TTC		ankyrin repeat domain 36							77.0	87.0	84.0					2																	97869830		692	1590	2282	SO:0001583	missense	375248							g.chr2:97869830G>C	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2985G>C	2.37:g.97869830G>C	ENSP00000419530:p.Leu995Phe					ANKRD36_uc002sxp.3_RNA	p.L995F	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			49	3229	+			995					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2985G>C	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	9.670	1.146474	0.21288	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.55052	0.54;0.54	0.591	0.591	0.17465	.	.	.	.	.	T	0.31638	0.0803	L	0.38175	1.15	0.09310	N	0.999999	P	0.49090	0.919	B	0.31686	0.134	T	0.15065	-1.0450	8	0.38643	T	0.18	.	.	.	.	.	995	A6QL64	AN36A_HUMAN	F	995;995;357	ENSP00000419530:L995F;ENSP00000391950:L995F	ENSP00000391950:L995F	L	+	3	2	ANKRD36	97233557	0.146000	0.22672	0.039000	0.18376	0.004000	0.04260	0.262000	0.18460	0.597000	0.29811	0.175000	0.17021	TTG		0.308	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			4	11	0	0	0	0	4	11				
ANAPC1	64682	broad.mit.edu	37	2	112541901	112541901	+	Splice_Site	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:112541901T>A	ENST00000341068.3	-	41	5766	c.4994A>T	c.(4993-4995)cAg>cTg	p.Q1665L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1665					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CCAGCTTACCTGCTTTAAAAG	0.438																																						uc002thi.2		NA																	0				skin(2)	2						c.(4993-4995)CAG>CTG		anaphase promoting complex subunit 1							149.0	123.0	132.0					2																	112541901		2203	4299	6502	SO:0001630	splice_region_variant	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112541901T>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.4995+1A>T	2.37:g.112541901T>A							p.Q1665L	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			41	5241	-			1665					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.4994A>T	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.900569	0.33535	.	.	ENSG00000153107	ENST00000341068	.	.	.	4.63	4.63	0.57726	.	0.000000	0.47455	D	0.000233	T	0.55305	0.1912	L	0.47716	1.5	0.58432	D	0.999996	B	0.19817	0.039	B	0.18871	0.023	T	0.53114	-0.8484	9	0.36615	T	0.2	-9.2168	14.0696	0.64852	0.0:0.0:0.0:1.0	.	1665	Q9H1A4	APC1_HUMAN	L	1665	.	ENSP00000339109:Q1665L	Q	-	2	0	ANAPC1	112258372	1.000000	0.71417	0.999000	0.59377	0.292000	0.27327	3.978000	0.56881	1.714000	0.51371	0.454000	0.30748	CAG		0.438	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662	Missense_Mutation	37	138	0	0	0	0	37	138				
TFCP2L1	29842	broad.mit.edu	37	2	121995390	121995390	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:121995390G>A	ENST00000263707.5	-	9	994	c.897C>T	c.(895-897)ccC>ccT	p.P299P		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	299					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CACTGCCCACGGGCAGGGCCT	0.652																																						uc002tmx.2		NA																	0				pancreas(2)|ovary(1)	3						c.(895-897)CCC>CCT		LBP-9							52.0	54.0	53.0					2																	121995390		2203	4300	6503	SO:0001819	synonymous_variant	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:121995390G>A	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.897C>T	2.37:g.121995390G>A						TFCP2L1_uc010flr.2_Silent_p.P299P	p.P299P	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN			9	990	-	Renal(3;0.01)		299					Q4ZG43	Silent	SNP	ENST00000263707.5	37	c.897C>T	CCDS2134.1																																																																																				0.652	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		13	22	0	0	0	0	13	22				
NCKAP5	344148	broad.mit.edu	37	2	133721320	133721320	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:133721320C>T	ENST00000409261.1	-	8	925	c.552G>A	c.(550-552)ttG>ttA	p.L184L	NCKAP5_ENST00000317721.6_Silent_p.L184L|NCKAP5_ENST00000405974.3_Silent_p.L184L|NCKAP5_ENST00000409213.1_Silent_p.L184L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	184										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCTCTAATAGCAATTTGGTCT	0.368																																						uc002ttp.2		NA																	0					0						c.(550-552)TTG>TTA		Nck-associated protein 5 isoform 1							162.0	157.0	159.0					2																	133721320		1861	4106	5967	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133721320C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.552G>A	2.37:g.133721320C>T						NCKAP5_uc002ttq.2_Silent_p.L184L|NCKAP5_uc002tts.1_Silent_p.L159L	p.L184L	NM_207363	NP_997246	O14513	NCKP5_HUMAN			8	926	-			184			Potential.		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.552G>A	CCDS46418.1																																																																																				0.368	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		48	102	0	0	0	0	48	102				
TANC1	85461	broad.mit.edu	37	2	160035608	160035608	+	Missense_Mutation	SNP	C	C	T	rs534711706		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:160035608C>T	ENST00000263635.6	+	14	2681	c.2444C>T	c.(2443-2445)cCg>cTg	p.P815L	TANC1_ENST00000454300.1_Missense_Mutation_p.P709L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	815					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTCTGCCACCCGTCCTTCAGG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		18691	0.001		0.0	False		,,,				2504	0.0					uc002uag.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2443-2445)CCG>CTG		tetratricopeptide repeat, ankyrin repeat and																																				SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160035608C>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2444C>T	2.37:g.160035608C>T	ENSP00000263635:p.Pro815Leu					TANC1_uc010fol.1_Missense_Mutation_p.P709L|TANC1_uc010zcm.1_Missense_Mutation_p.P807L|TANC1_uc010fom.1_Missense_Mutation_p.P621L|TANC1_uc002uai.1_RNA	p.P815L	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			14	2718	+			815					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.2444C>T	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	31	5.073287	0.94000	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.72282	-0.62;-0.64	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.86406	0.5925	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.987	D	0.87236	0.2263	10	0.87932	D	0	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	807;709;815	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	L	709;815	ENSP00000396339:P709L;ENSP00000263635:P815L	ENSP00000263635:P815L	P	+	2	0	TANC1	159743854	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	7.818000	0.86416	2.779000	0.95612	0.655000	0.94253	CCG		0.577	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			45	73	0	0	0	0	45	73				
KCNH7	90134	broad.mit.edu	37	2	163374347	163374347	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:163374347C>A	ENST00000332142.5	-	4	884	c.785G>T	c.(784-786)aGa>aTa	p.R262I	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.R262I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	262					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TTCCCTTGATCTGGAATGGGA	0.493																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NA																	0				ovary(3)|skin(2)	5						c.(784-786)AGA>ATA		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						128.0	115.0	119.0					2																	163374347		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163374347C>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.785G>T	2.37:g.163374347C>A	ENSP00000331727:p.Arg262Ile					KCNH7_uc002uci.2_Missense_Mutation_p.R262I	p.R262I	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			4	997	-			262			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.785G>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826807	0.50739	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.98150	-4.75;-4.75	5.9	5.9	0.94986	.	0.093558	0.85682	D	0.000000	D	0.94843	0.8334	L	0.32530	0.975	0.52501	D	0.999956	B;B	0.29936	0.169;0.262	B;B	0.25614	0.03;0.062	D	0.92798	0.6254	10	0.33141	T	0.24	.	16.4963	0.84246	0.0:0.8692:0.1308:0.0	.	262;262	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	I	262	ENSP00000331727:R262I;ENSP00000333781:R262I	ENSP00000333781:R262I	R	-	2	0	KCNH7	163082593	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.724000	0.47285	2.791000	0.96007	0.655000	0.94253	AGA		0.493	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		42	56	1	0	4.33e-17	5.7e-17	42	56				
KCNH7	90134	broad.mit.edu	37	2	163393462	163393462	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:163393462G>T	ENST00000332142.5	-	3	535	c.436C>A	c.(436-438)Cca>Aca	p.P146T	KCNH7_ENST00000328032.4_Missense_Mutation_p.P146T	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	146					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GGTAATATTGGGTTTACCCTC	0.378																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NA																	0				ovary(3)|skin(2)	5						c.(436-438)CCA>ACA		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						231.0	213.0	219.0					2																	163393462		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163393462G>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.436C>A	2.37:g.163393462G>T	ENSP00000331727:p.Pro146Thr					KCNH7_uc002uci.2_Missense_Mutation_p.P146T	p.P146T	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			3	648	-			146			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.436C>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581276	0.46006	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99537	-4.95;-6.11	5.56	3.75	0.43078	.	0.238538	0.45361	D	0.000369	D	0.97717	0.9251	L	0.29908	0.895	0.36899	D	0.890286	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	D	0.99873	1.1099	10	0.26408	T	0.33	.	10.273	0.43493	0.07:0.0:0.7934:0.1366	.	146;146	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	T	146	ENSP00000331727:P146T;ENSP00000333781:P146T	ENSP00000333781:P146T	P	-	1	0	KCNH7	163101708	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.434000	0.73408	1.343000	0.45638	0.561000	0.74099	CCA		0.378	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		63	98	1	0	1.84e-34	2.6e-34	63	98				
ABCB11	8647	broad.mit.edu	37	2	169780147	169780147	+	Silent	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:169780147T>C	ENST00000263817.6	-	28	4075	c.3951A>G	c.(3949-3951)ggA>ggG	p.G1317G		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1317					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)	TGATGGGGGATCCAGTGGTGA	0.468																																						uc002ueo.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(3949-3951)GGA>GGG		ATP-binding cassette, sub-family B (MDR/TAP),	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						134.0	136.0	135.0					2																	169780147		1987	4170	6157	SO:0001819	synonymous_variant	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.chr2:169780147T>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.3951A>G	2.37:g.169780147T>C						ABCB11_uc010zda.1_Silent_p.G735G|ABCB11_uc010zdb.1_Silent_p.G793G	p.G1317G	NM_003742	NP_003733	O95342	ABCBB_HUMAN			28	4077	-			1317			Cytoplasmic (Potential).		Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	c.3951A>G	CCDS46444.1																																																																																				0.468	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		19	58	0	0	0	0	19	58				
EVX2	344191	broad.mit.edu	37	2	176947080	176947080	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:176947080G>T	ENST00000308618.4	-	2	661	c.525C>A	c.(523-525)agC>agA	p.S175R		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	175					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CCAGCGCCGCGCTCCCGCCGC	0.721																																						uc010zeu.1		NA																	0				ovary(2)	2						c.(523-525)AGC>AGA		even-skipped homeobox 2							8.0	10.0	9.0					2																	176947080		2018	4006	6024	SO:0001583	missense	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176947080G>T		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.525C>A	2.37:g.176947080G>T	ENSP00000312385:p.Ser175Arg						p.S175R	NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	2	711	-			175						Missense_Mutation	SNP	ENST00000308618.4	37	c.525C>A	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	G	9.844	1.191884	0.21954	.	.	ENSG00000174279	ENST00000308618	D	0.95853	-3.83	5.12	2.07	0.26955	Homeodomain-related (1);	1.026020	0.07689	N	0.938418	D	0.88570	0.6472	N	0.14661	0.345	0.09310	N	1	P	0.38582	0.638	B	0.36504	0.226	T	0.80659	-0.1284	10	0.25106	T	0.35	-0.9143	6.1112	0.20102	0.414:0.0:0.586:0.0	.	175	Q03828	EVX2_HUMAN	R	175	ENSP00000312385:S175R	ENSP00000312385:S175R	S	-	3	2	EVX2	176655326	0.987000	0.35691	0.586000	0.28679	0.340000	0.28889	-0.239000	0.08965	0.456000	0.26937	0.563000	0.77884	AGC		0.721	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			9	21	1	0	1.59e-06	1.8e-06	9	21				
TTN	7273	broad.mit.edu	37	2	179466061	179466061	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:179466061C>T	ENST00000591111.1	-	237	50964	c.50740G>A	c.(50740-50742)Gca>Aca	p.A16914T	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A18555T|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A9682T|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A9615T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A15987T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A9490T			Q8WZ42	TITIN_HUMAN	titin	16914	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGTTTTCTGCTCGCACACGG	0.433																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(47959-47961)GCA>ACA		titin isoform N2-A							99.0	95.0	96.0					2																	179466061		1900	4118	6018	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179466061C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50740G>A	2.37:g.179466061C>T	ENSP00000465570:p.Ala16914Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A9682T|TTN_uc010zfi.1_Missense_Mutation_p.A9615T|TTN_uc010zfj.1_Missense_Mutation_p.A9490T	p.A15987T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		236	48183	-			16914					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.47959G>A		.	.	.	.	.	.	.	.	.	.	C	17.25	3.342702	0.61073	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.85	5.85	0.93711	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88224	0.6379	H	0.95260	3.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.90823	0.4710	9	0.87932	D	0	.	20.1588	0.98128	0.0:1.0:0.0:0.0	.	9490;9615;9682;16914	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	15987;9490;9682;9615;9490	ENSP00000343764:A15987T;ENSP00000434586:A9490T;ENSP00000340554:A9682T;ENSP00000352154:A9615T	ENSP00000340554:A9682T	A	-	1	0	TTN	179174306	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.770000	0.95276	0.563000	0.77884	GCA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		30	51	0	0	0	0	30	51				
TTN	7273	broad.mit.edu	37	2	179578646	179578646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:179578646G>T	ENST00000591111.1	-	90	26012	c.25788C>A	c.(25786-25788)tgC>tgA	p.C8596*	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.C8913*|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.C7669*|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12756	Ig-like 68.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGAAGCTGTGCAGCTGTCTT	0.408																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(23005-23007)TGC>TGA		titin isoform N2-A							128.0	126.0	127.0					2																	179578646		1894	4110	6004	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179578646G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25788C>A	2.37:g.179578646G>T	ENSP00000465570:p.Cys8596*					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.C4330*	p.C7669*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		89	23231	-			8596					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.23007C>A		.	.	.	.	.	.	.	.	.	.	G	59	36.958044	0.99984	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.07	2.17	0.27698	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.444	0.44483	0.2682:0.0:0.7318:0.0	.	.	.	.	X	7669	.	ENSP00000343764:C7669X	C	-	3	2	TTN	179286891	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.494000	0.35616	0.839000	0.34971	0.655000	0.94253	TGC		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	35	1	0	5.62e-17	7.4e-17	25	35				
TTN	7273	broad.mit.edu	37	2	179587165	179587165	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:179587165A>T	ENST00000591111.1	-	75	21622	c.21398T>A	c.(21397-21399)gTg>gAg	p.V7133E	TTN_ENST00000589042.1_Missense_Mutation_p.V7450E|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V6206E|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12708	Ig-like 53.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACCAGCACACTTGGATGGG	0.388																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(18616-18618)GTG>GAG		titin isoform N2-A							78.0	76.0	77.0					2																	179587165		1854	4116	5970	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179587165A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21398T>A	2.37:g.179587165A>T	ENSP00000465570:p.Val7133Glu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V2867E	p.V6206E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		74	18841	-			7133					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.18617T>A		.	.	.	.	.	.	.	.	.	.	A	13.28	2.189302	0.38707	.	.	ENSG00000155657	ENST00000342992	T	0.77229	-1.08	5.95	5.95	0.96441	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92718	0.7685	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.95255	0.8363	9	0.87932	D	0	.	16.4116	0.83717	1.0:0.0:0.0:0.0	.	7133	Q8WZ42	TITIN_HUMAN	E	6206	ENSP00000343764:V6206E	ENSP00000343764:V6206E	V	-	2	0	TTN	179295410	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.300000	0.96151	2.276000	0.75962	0.528000	0.53228	GTG		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		63	82	0	0	0	0	63	82				
TTN	7273	broad.mit.edu	37	2	179611834	179611834	+	Intron	SNP	G	G	A	rs397517814		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:179611834G>A	ENST00000591111.1	-	46	10585				TTN_ENST00000360870.5_Missense_Mutation_p.P5098L|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTCCTGGGGGTGTGGAGTA	0.522																																						uc002unb.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(15292-15294)CCC>CTC		titin isoform novex-3							62.0	73.0	69.0					2																	179611834		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611834G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5186C>T	2.37:g.179611834G>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.P5098L	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15517	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15293C>T		.	.	.	.	.	.	.	.	.	.	G	16.98	3.272336	0.59649	.	.	ENSG00000155657	ENST00000360870	T	0.71579	-0.58	5.49	5.49	0.81192	.	.	.	.	.	T	0.82116	0.4967	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	T	0.82057	-0.0646	9	0.51188	T	0.08	.	17.5209	0.87787	0.0:0.0:1.0:0.0	.	5098	Q8WZ42-6	.	L	5098	ENSP00000354117:P5098L	ENSP00000354117:P5098L	P	-	2	0	TTN	179320079	0.993000	0.37304	1.000000	0.80357	0.895000	0.52256	3.526000	0.53509	2.748000	0.94277	0.655000	0.94253	CCC		0.522	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		58	89	0	0	0	0	58	89				
TTN	7273	broad.mit.edu	37	2	179612195	179612195	+	Intron	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:179612195T>C	ENST00000591111.1	-	46	10585				TTN_ENST00000360870.5_Missense_Mutation_p.S4978G|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCTTCACTGGTTGTACTT	0.383																																						uc002unb.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(14932-14934)AGT>GGT		titin isoform novex-3							99.0	101.0	100.0					2																	179612195		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179612195T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5547A>G	2.37:g.179612195T>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.S4978G	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15156	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.14932A>G		.	.	.	.	.	.	.	.	.	.	T	16.44	3.124003	0.56613	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.76578	-1.03	5.82	5.82	0.92795	.	.	.	.	.	T	0.73140	0.3549	L	0.53249	1.67	0.26840	N	0.968404	B	0.17038	0.02	B	0.16722	0.016	T	0.64132	-0.6479	9	0.44086	T	0.13	.	10.3106	0.43706	0.0:0.1152:0.0:0.8848	.	4978	Q8WZ42-6	.	G	4978;292	ENSP00000354117:S4978G	ENSP00000304714:S292G	S	-	1	0	TTN	179320440	1.000000	0.71417	0.991000	0.47740	0.928000	0.56348	4.651000	0.61447	2.234000	0.73211	0.533000	0.62120	AGT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	92	0	0	0	0	34	92				
TTN	7273	broad.mit.edu	37	2	179613197	179613197	+	Intron	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:179613197G>A	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Missense_Mutation_p.H4644Y|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTATAATGTATTTCCTGC	0.358																																						uc002unb.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13930-13932)CAT>TAT		titin isoform novex-3							83.0	93.0	89.0					2																	179613197		2203	4298	6501	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613197G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4653C>T	2.37:g.179613197G>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.H4644Y	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14154	-			758					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13930C>T		.	.	.	.	.	.	.	.	.	.	G	0.646	-0.811387	0.02798	.	.	ENSG00000155657	ENST00000360870	T	0.56444	0.46	5.63	-2.4	0.06583	.	.	.	.	.	T	0.25306	0.0615	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31668	-0.9935	9	0.02654	T	1	.	6.9858	0.24727	0.4688:0.1851:0.3461:0.0	.	4644	Q8WZ42-6	.	Y	4644	ENSP00000354117:H4644Y	ENSP00000354117:H4644Y	H	-	1	0	TTN	179321442	0.000000	0.05858	0.007000	0.13788	0.013000	0.08279	-1.081000	0.03403	-0.133000	0.11537	-0.127000	0.14921	CAT		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		67	124	0	0	0	0	67	124				
TTN	7273	broad.mit.edu	37	2	179639115	179639115	+	Silent	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:179639115T>C	ENST00000591111.1	-	30	7100	c.6876A>G	c.(6874-6876)ccA>ccG	p.P2292P	TTN_ENST00000360870.5_Silent_p.P2292P|TTN_ENST00000589042.1_Silent_p.P2292P|TTN_ENST00000342175.6_Silent_p.P2246P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Silent_p.P2246P|TTN-AS1_ENST00000610005.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Silent_p.P2292P|TTN_ENST00000460472.2_Silent_p.P2246P			Q8WZ42	TITIN_HUMAN	titin	12614	Ig-like 12.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATATTTTCTGGGGATACAA	0.383																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(6874-6876)CCA>CCG		titin isoform N2-A							115.0	112.0	113.0					2																	179639115		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179639115T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6876A>G	2.37:g.179639115T>C						TTN_uc010zfh.1_Silent_p.P2246P|TTN_uc010zfi.1_Silent_p.P2246P|TTN_uc010zfj.1_Silent_p.P2246P|TTN_uc002unb.2_Silent_p.P2292P|uc002unc.1_5'Flank	p.P2292P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		30	7100	-			2292					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.6876A>G																																																																																					0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		60	95	0	0	0	0	60	95				
DNAH7	56171	broad.mit.edu	37	2	196891496	196891496	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:196891496T>A	ENST00000312428.6	-	7	755	c.655A>T	c.(655-657)Agg>Tgg	p.R219W	DNAH7_ENST00000410072.1_Missense_Mutation_p.R219W	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	219	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGGATTTCCTTACACTAAGA	0.294																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(655-657)AGG>TGG		dynein, axonemal, heavy chain 7							96.0	89.0	91.0					2																	196891496		1857	4077	5934	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196891496T>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.655A>T	2.37:g.196891496T>A	ENSP00000311273:p.Arg219Trp						p.R219W	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			7	756	-			219			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.655A>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699327	0.88830	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446	T;T	0.25579	1.79;2.54	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.27524	0.0676	L	0.27053	0.805	0.22961	N	0.998501	P	0.49635	0.926	P	0.48030	0.564	T	0.13737	-1.0498	10	0.87932	D	0	.	16.0219	0.80503	0.0:0.0:0.0:1.0	.	219	Q8WXX0	DYH7_HUMAN	W	219	ENSP00000311273:R219W;ENSP00000386260:R219W	ENSP00000311273:R219W	R	-	1	2	DNAH7	196599741	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.750000	0.74888	2.260000	0.74910	0.528000	0.53228	AGG		0.294	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		8	23	0	0	0	0	8	23				
ERBB4	2066	broad.mit.edu	37	2	212495206	212495206	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:212495206C>A	ENST00000342788.4	-	17	2370	c.2060G>T	c.(2059-2061)aGa>aTa	p.R687I	ERBB4_ENST00000402597.1_Missense_Mutation_p.R677I|ERBB4_ENST00000436443.1_Missense_Mutation_p.R687I	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	687					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CAAGAATCTTCTCAAGGCTCT	0.388										TSP Lung(8;0.080)																												uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(2059-2061)AGA>ATA		v-erb-a erythroblastic leukemia viral oncogene							133.0	143.0	140.0					2																	212495206		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212495206C>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2060G>T	2.37:g.212495206C>A	ENSP00000342235:p.Arg687Ile	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.R687I|ERBB4_uc010zji.1_Missense_Mutation_p.R677I|ERBB4_uc010zjj.1_Missense_Mutation_p.R677I|ERBB4_uc010fut.1_Missense_Mutation_p.R687I	p.R687I	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	17	2158	-		Renal(323;0.06)|Lung NSC(271;0.197)	687			Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2060G>T	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.4|28.4	4.918922|4.918922	0.92249|0.92249	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597	.|T;T;T	.|0.77098	.|-1.07;-1.06;-1.07	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.88629	.|0.6488	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	.|P;D;D;D;D	.|0.89917	.|0.901;1.0;0.998;0.999;0.999	.|P;D;D;D;D	.|0.81914	.|0.631;0.995;0.935;0.983;0.961	.|D	.|0.88793	.|0.3279	.|10	.|0.87932	.|D	.|0	.|.	20.205|20.205	0.98274|0.98274	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|677;677;546;687;687	.|Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.|.;.;.;.;ERBB4_HUMAN	X|I	677|687;687;677	.|ENSP00000342235:R687I;ENSP00000403204:R687I;ENSP00000385565:R677I	.|ENSP00000342235:R687I	E|R	-|-	1|2	0|0	ERBB4|ERBB4	212203451|212203451	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.484000|7.484000	0.81180|0.81180	2.777000|2.777000	0.95525|0.95525	0.591000|0.591000	0.81541|0.81541	GAA|AGA		0.388	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		25	75	1	0	3.08e-08	3.63e-08	25	75				
SPHKAP	80309	broad.mit.edu	37	2	228884000	228884000	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr2:228884000C>G	ENST00000392056.3	-	7	1616	c.1570G>C	c.(1570-1572)Gtg>Ctg	p.V524L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V524L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	524						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCGAGACCACTTGCTCCATT	0.512																																						uc002vpq.2		NA																	0				skin(5)|ovary(4)|lung(1)	10						c.(1570-1572)GTG>CTG		sphingosine kinase type 1-interacting protein							61.0	54.0	56.0					2																	228884000		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228884000C>G		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1570G>C	2.37:g.228884000C>G	ENSP00000375909:p.Val524Leu					SPHKAP_uc002vpp.2_Missense_Mutation_p.V524L|SPHKAP_uc010zlx.1_Missense_Mutation_p.V524L	p.V524L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1617	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	524					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1570G>C	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	9.358	1.067269	0.20067	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.38722	1.12;1.12	6.03	6.03	0.97812	.	0.905582	0.09503	N	0.793385	T	0.19886	0.0478	N	0.00690	-1.25	0.29487	N	0.855925	P;B	0.46395	0.877;0.001	B;B	0.38106	0.265;0.002	T	0.45366	-0.9266	10	0.38643	T	0.18	.	19.545	0.95291	0.0:1.0:0.0:0.0	.	524;524	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	L	524	ENSP00000375909:V524L;ENSP00000339886:V524L	ENSP00000339886:V524L	V	-	1	0	SPHKAP	228592244	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.359000	0.66074	2.861000	0.98227	0.655000	0.94253	GTG		0.512	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		30	16	0	0	0	0	30	16				
PAK7	57144	broad.mit.edu	37	20	9525142	9525142	+	Splice_Site	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:9525142C>A	ENST00000378429.3	-	9	2290		c.e9-1		PAK7_ENST00000378423.1_Splice_Site|PAK7_ENST00000353224.5_Splice_Site	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7						apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACAACTTTATCTGAAAAGGAA	0.388																																						uc002wnl.2		NA																	0				lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.e9-1		p21-activated kinase 7							80.0	80.0	80.0					20																	9525142		2203	4300	6503	SO:0001630	splice_region_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9525142C>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1744-1G>T	20.37:g.9525142C>A						PAK7_uc002wnk.2_Splice_Site_p.I582_splice|PAK7_uc002wnj.2_Splice_Site_p.I582_splice|PAK7_uc010gby.1_Intron	p.I582_splice	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		9	2289	-								A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Splice_Site	SNP	ENST00000378429.3	37	c.1744_splice	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931117	0.92389	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PAK7	9473142	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.768000	0.85345	2.836000	0.97738	0.655000	0.94253	.		0.388	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		Intron	12	45	1	0	4.38e-07	5.04e-07	12	45				
SEL1L2	80343	broad.mit.edu	37	20	13847353	13847353	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:13847353C>A	ENST00000284951.5	-	15	1473	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.V467L			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	467						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTACCTCCACAGCAGTTCTG	0.398																																						uc010gcf.2		NA																	0				ovary(2)	2						c.(1399-1401)GTG>TTG		sel-1 suppressor of lin-12-like 2 precursor							128.0	122.0	124.0					20																	13847353		1880	4099	5979	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13847353C>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1399G>T	20.37:g.13847353C>A	ENSP00000284951:p.Val467Leu					SEL1L2_uc002woq.3_Missense_Mutation_p.V328L|SEL1L2_uc010zrl.1_Missense_Mutation_p.V467L|SEL1L2_uc002wor.2_RNA	p.V467L	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			15	1481	-			467			Extracellular (Potential).|Sel1-like 9.		B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1399G>T		.	.	.	.	.	.	.	.	.	.	C	13.68	2.310457	0.40895	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.46063	0.88;0.88	6.01	6.01	0.97437	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000020	T	0.51143	0.1657	M	0.62088	1.915	0.58432	D	0.999997	P;B	0.39782	0.688;0.273	P;B	0.45712	0.491;0.187	T	0.37709	-0.9694	10	0.34782	T	0.22	-13.0185	18.015	0.89236	0.0:1.0:0.0:0.0	.	467;467	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	L	467	ENSP00000367312:V467L;ENSP00000284951:V467L	ENSP00000284951:V467L	V	-	1	0	SEL1L2	13795353	1.000000	0.71417	0.991000	0.47740	0.388000	0.30384	7.137000	0.77295	2.861000	0.98227	0.650000	0.86243	GTG		0.398	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		32	51	1	0	6.01e-18	8e-18	32	51				
SEL1L2	80343	broad.mit.edu	37	20	13847424	13847424	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:13847424G>A	ENST00000284951.5	-	15	1402	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.P443L			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	443						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AATGGCAAGGGGCTGCCCACT	0.408																																						uc010gcf.2		NA																	0				ovary(2)	2						c.(1327-1329)CCC>CTC		sel-1 suppressor of lin-12-like 2 precursor							100.0	96.0	97.0					20																	13847424		1855	4094	5949	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13847424G>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1328C>T	20.37:g.13847424G>A	ENSP00000284951:p.Pro443Leu					SEL1L2_uc002woq.3_Missense_Mutation_p.P304L|SEL1L2_uc010zrl.1_Missense_Mutation_p.P443L|SEL1L2_uc002wor.2_RNA	p.P443L	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			15	1410	-			443			Extracellular (Potential).|Sel1-like 9.		B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1328C>T		.	.	.	.	.	.	.	.	.	.	G	15.27	2.783274	0.49891	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.51325	0.71;0.71	6.03	6.03	0.97812	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000006	T	0.51601	0.1684	L	0.49126	1.545	0.53688	D	0.99997	B;P	0.52463	0.213;0.953	B;P	0.52793	0.162;0.709	T	0.39502	-0.9611	10	0.27785	T	0.31	-6.9241	11.3456	0.49559	0.0815:0.0:0.9185:0.0	.	443;443	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	L	443	ENSP00000367312:P443L;ENSP00000284951:P443L	ENSP00000284951:P443L	P	-	2	0	SEL1L2	13795424	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.609000	0.54117	2.868000	0.98415	0.557000	0.71058	CCC		0.408	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		32	41	0	0	0	0	32	41				
NINL	22981	broad.mit.edu	37	20	25456905	25456905	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:25456905C>A	ENST00000278886.6	-	17	3095	c.3022G>T	c.(3022-3024)Ggg>Tgg	p.G1008W	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1008					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTGTGACACCCAGGCTCCAGG	0.677																																						uc002wux.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3022-3024)GGG>TGG		ninein-like							52.0	56.0	55.0					20																	25456905		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25456905C>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3022G>T	20.37:g.25456905C>A	ENSP00000278886:p.Gly1008Trp					NINL_uc010gdn.1_Intron	p.G1008W	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			17	3096	-			1008					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.3022G>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	6.042	0.376130	0.11466	.	.	ENSG00000101004	ENST00000278886	T	0.06142	3.34	2.77	0.0504	0.14293	.	2.395860	0.01385	N	0.013041	T	0.04861	0.0131	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39014	-0.9634	10	0.51188	T	0.08	0.4864	5.0773	0.14638	0.2161:0.4108:0.3732:0.0	.	1008	Q9Y2I6	NINL_HUMAN	W	1008	ENSP00000278886:G1008W	ENSP00000278886:G1008W	G	-	1	0	NINL	25404905	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.598000	0.24074	-0.069000	0.12931	0.313000	0.20887	GGG		0.677	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		35	25	1	0	1.6e-16	2.1e-16	35	25				
DEFB118	117285	broad.mit.edu	37	20	29960690	29960690	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:29960690G>C	ENST00000253381.2	+	2	122	c.89G>C	c.(88-90)aGa>aCa	p.R30T		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	30					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGCTGGAACAGATCAGGGCAC	0.403																																						uc002wvr.2		NA																	0				ovary(3)|pancreas(1)	4						c.(88-90)AGA>ACA		beta-defensin 118 precursor							91.0	86.0	88.0					20																	29960690		2203	4300	6503	SO:0001583	missense	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29960690G>C	AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.89G>C	20.37:g.29960690G>C	ENSP00000253381:p.Arg30Thr						p.R30T	NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	115	+	all_hematologic(12;0.158)		30					Q17RC4|Q8N691|Q9NUH0	Missense_Mutation	SNP	ENST00000253381.2	37	c.89G>C	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	G	7.166	0.586672	0.13749	.	.	ENSG00000131068	ENST00000253381	T	0.11712	2.75	3.82	-1.45	0.08828	.	1.516990	0.04188	N	0.327707	T	0.06188	0.0160	N	0.14661	0.345	0.09310	N	1	B	0.25772	0.134	B	0.25291	0.059	T	0.35847	-0.9772	10	0.33940	T	0.23	-7.2846	3.1477	0.06477	0.4818:0.0:0.332:0.1862	.	30	Q96PH6	DB118_HUMAN	T	30	ENSP00000253381:R30T	ENSP00000253381:R30T	R	+	2	0	DEFB118	29424351	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.231000	0.09069	-0.252000	0.09528	-0.290000	0.09829	AGA		0.403	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		6	30	0	0	0	0	6	30				
SOGA1	140710	broad.mit.edu	37	20	35422872	35422872	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:35422872C>A	ENST00000357779.3	-	14	3225	c.2899G>T	c.(2899-2901)Ggg>Tgg	p.G967W	SOGA1_ENST00000279034.6_Missense_Mutation_p.G967W|SOGA1_ENST00000456801.2_Missense_Mutation_p.G808W|SOGA1_ENST00000237536.4_Missense_Mutation_p.G1205W			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	967					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TCTGGATCCCCTGGCTCGGAG	0.612																																						uc002xgd.1		NA																	0					0						c.(2899-2901)GGG>TGG		hypothetical protein LOC140710 isoform 2							52.0	52.0	52.0					20																	35422872		1942	4154	6096	SO:0001583	missense	140710							g.chr20:35422872C>A	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2899G>T	20.37:g.35422872C>A	ENSP00000350424:p.Gly967Trp					C20orf117_uc002xge.1_RNA	p.G967W	NM_199181	NP_954650	O94964	K0889_HUMAN			14	3226	-		Myeloproliferative disorder(115;0.00874)	967					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.2899G>T		.	.	.	.	.	.	.	.	.	.	C	3.427	-0.116976	0.06838	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.14	4.19	0.49359	.	1.332370	0.04506	N	0.382129	T	0.25938	0.0632	N	0.08118	0	0.09310	N	1	P	0.39862	0.692	B	0.38712	0.28	T	0.17107	-1.0380	10	0.36615	T	0.2	-9.6229	5.6841	0.17792	0.0:0.6687:0.1612:0.1701	.	967	O94964-4	.	W	1205;967;808;967	ENSP00000237536:G1205W;ENSP00000279034:G967W;ENSP00000413886:G808W;ENSP00000350424:G967W	ENSP00000237536:G1205W	G	-	1	0	KIAA0889	34856286	0.000000	0.05858	0.005000	0.12908	0.010000	0.07245	0.980000	0.29513	1.374000	0.46228	0.655000	0.94253	GGG		0.612	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		28	32	1	0	1.77e-15	2.28e-15	28	32				
KIAA1755	85449	broad.mit.edu	37	20	36869128	36869128	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:36869128G>T	ENST00000279024.4	-	3	1676	c.1405C>A	c.(1405-1407)Cct>Act	p.P469T		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	469										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TTGAGCCCAGGAGTGGGGGGC	0.552																																						uc002xhy.1		NA																	0				ovary(4)|pancreas(1)	5						c.(1405-1407)CCT>ACT		hypothetical protein LOC85449							57.0	61.0	60.0					20																	36869128		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36869128G>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1405C>A	20.37:g.36869128G>T	ENSP00000279024:p.Pro469Thr					KIAA1755_uc002xhz.1_Missense_Mutation_p.P469T	p.P469T	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			3	1677	-		Myeloproliferative disorder(115;0.00874)	469					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.1405C>A	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	G	9.267	1.044606	0.19748	.	.	ENSG00000149633	ENST00000279024;ENST00000373398	T	0.05139	3.49	4.74	0.321	0.15883	.	0.460388	0.18543	N	0.138142	T	0.06005	0.0156	M	0.62723	1.935	0.09310	N	1	B	0.21905	0.062	B	0.17979	0.02	T	0.31447	-0.9943	10	0.46703	T	0.11	.	1.407	0.02283	0.1946:0.3143:0.3298:0.1612	.	469	Q5JYT7	K1755_HUMAN	T	469;16	ENSP00000279024:P469T	ENSP00000279024:P469T	P	-	1	0	KIAA1755	36302542	0.000000	0.05858	0.570000	0.28473	0.228000	0.25075	-0.293000	0.08320	0.573000	0.29400	0.655000	0.94253	CCT		0.552	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		17	43	1	0	4.76e-15	6.13e-15	17	43				
SPATA2	9825	broad.mit.edu	37	20	48522917	48522917	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:48522917G>T	ENST00000422556.1	-	3	1151	c.802C>A	c.(802-804)Ctg>Atg	p.L268M	SPATA2_ENST00000543716.1_Missense_Mutation_p.L131M|SPATA2_ENST00000289431.5_Missense_Mutation_p.L268M	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	268					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GAGGCCTTCAGGGGTGGCTTC	0.617																																						uc010gie.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(802-804)CTG>ATG		spermatogenesis associated 2							50.0	50.0	50.0					20																	48522917		2203	4300	6503	SO:0001583	missense	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48522917G>T	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.802C>A	20.37:g.48522917G>T	ENSP00000416799:p.Leu268Met					SPATA2_uc002xuw.2_Missense_Mutation_p.L268M|SPATA2_uc010zyn.1_Missense_Mutation_p.L131M	p.L268M	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	1152	-	Hepatocellular(150;0.133)		268					E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	c.802C>A	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935424	0.34189	.	.	ENSG00000158480	ENST00000289431;ENST00000422556;ENST00000543716	T;T;T	0.56941	0.43;0.43;0.44	5.05	1.98	0.26296	.	0.424495	0.20760	N	0.086192	T	0.58221	0.2107	L	0.48642	1.525	0.38653	D	0.951892	D	0.67145	0.996	D	0.63033	0.91	T	0.56926	-0.7898	10	0.34782	T	0.22	-51.0876	9.8389	0.40987	0.355:0.0:0.645:0.0	.	268	Q9UM82	SPAT2_HUMAN	M	268;268;131	ENSP00000289431:L268M;ENSP00000416799:L268M;ENSP00000438855:L131M	ENSP00000289431:L268M	L	-	1	2	SPATA2	47956324	0.878000	0.30173	0.852000	0.33557	0.208000	0.24298	0.821000	0.27338	0.695000	0.31675	0.650000	0.86243	CTG		0.617	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		30	38	1	0	2.85e-18	3.82e-18	30	38				
FAM65C	140876	broad.mit.edu	37	20	49225879	49225879	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:49225879G>C	ENST00000327979.2	-	8	990	c.579C>G	c.(577-579)atC>atG	p.I193M	FAM65C_ENST00000535356.1_Missense_Mutation_p.I197M|FAM65C_ENST00000045083.2_Missense_Mutation_p.I193M			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	193										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGCCCCCTCGATGAGCCACA	0.647																																						uc002xvm.2		NA																	0				ovary(2)	2						c.(577-579)ATC>ATG		hypothetical protein LOC140876							42.0	46.0	45.0					20																	49225879		2203	4300	6503	SO:0001583	missense	140876							g.chr20:49225879G>C	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.579C>G	20.37:g.49225879G>C	ENSP00000332663:p.Ile193Met					FAM65C_uc010zyt.1_Missense_Mutation_p.I197M|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.I193M	p.I193M	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN			8	897	-			193					Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	c.579C>G	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634344	0.47049	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.02258	4.37;4.37;4.37	4.78	-1.85	0.07784	.	0.094831	0.64402	D	0.000001	T	0.03608	0.0103	L	0.40543	1.245	0.41542	D	0.988522	P;D	0.58620	0.934;0.983	P;P	0.58130	0.744;0.833	T	0.53099	-0.8486	10	0.52906	T	0.07	-21.0416	3.9415	0.09329	0.401:0.0:0.3291:0.2699	.	197;193	F5H0X2;Q96MK2	.;FA65C_HUMAN	M	193;193;197	ENSP00000332663:I193M;ENSP00000045083:I193M;ENSP00000439802:I197M	ENSP00000045083:I193M	I	-	3	3	FAM65C	48659286	0.000000	0.05858	0.996000	0.52242	0.902000	0.53008	-1.935000	0.01550	-0.178000	0.10672	-0.266000	0.10368	ATC		0.647	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			6	11	0	0	0	0	6	11				
DOK5	55816	broad.mit.edu	37	20	53227044	53227044	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:53227044G>C	ENST00000262593.5	+	6	1067	c.717G>C	c.(715-717)caG>caC	p.Q239H	DOK5_ENST00000395939.1_Missense_Mutation_p.Q131H	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	239					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GCTTGCTACAGAGTGTGAAAA	0.498																																						uc002xwy.2		NA																	0				ovary(1)	1						c.(715-717)CAG>CAC		docking protein 5							66.0	61.0	62.0					20																	53227044		2203	4300	6503	SO:0001583	missense	55816						insulin receptor binding	g.chr20:53227044G>C	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.717G>C	20.37:g.53227044G>C	ENSP00000262593:p.Gln239His					DOK5_uc010gin.2_Missense_Mutation_p.Q131H|DOK5_uc002xwz.2_Missense_Mutation_p.Q101H	p.Q239H	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)		6	937	+			239					Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	37	c.717G>C	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.570383	0.45798	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	D;D	0.82526	-1.62;-1.62	5.78	2.8	0.32819	.	0.164825	0.53938	D	0.000045	T	0.72637	0.3485	N	0.14661	0.345	0.43408	D	0.995549	B;D	0.56521	0.13;0.976	B;P	0.47528	0.061;0.549	T	0.75190	-0.3405	10	0.56958	D	0.05	-41.2533	10.4704	0.44633	0.2041:0.0:0.7959:0.0	.	131;239	Q9P104-2;Q9P104	.;DOK5_HUMAN	H	239;131	ENSP00000262593:Q239H;ENSP00000379270:Q131H	ENSP00000262593:Q239H	Q	+	3	2	DOK5	52660451	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.316000	0.51960	1.452000	0.47756	0.655000	0.94253	CAG		0.498	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			11	31	0	0	0	0	11	31				
TAF4	6874	broad.mit.edu	37	20	60584179	60584179	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:60584179T>A	ENST00000252996.4	-	5	1812	c.1813A>T	c.(1813-1815)Aaa>Taa	p.K605*	TAF4_ENST00000609045.1_5'Flank	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	605	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GAAGCCAGTTTTATTAACGTA	0.348																																						uc002ybs.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1813-1815)AAA>TAA		TBP-associated factor 4							100.0	102.0	101.0					20																	60584179		2203	4300	6503	SO:0001587	stop_gained	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60584179T>A	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1813A>T	20.37:g.60584179T>A	ENSP00000252996:p.Lys605*						p.K605*	NM_003185	NP_003176	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		5	1813	-	Breast(26;1e-08)		605			TAFH.		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Nonsense_Mutation	SNP	ENST00000252996.4	37	c.1813A>T	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	T	39	7.528758	0.98339	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.6952	14.9411	0.70994	0.0:0.0:0.0:1.0	.	.	.	.	X	605;469	.	ENSP00000252996:K605X	K	-	1	0	TAF4	60017574	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.726000	0.84824	1.930000	0.55929	0.459000	0.35465	AAA		0.348	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		38	51	0	0	0	0	38	51				
OPRL1	4987	broad.mit.edu	37	20	62729191	62729191	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:62729191C>G	ENST00000349451.3	+	5	682	c.270C>G	c.(268-270)atC>atG	p.I90M	OPRL1_ENST00000336866.2_Missense_Mutation_p.I90M|OPRL1_ENST00000355631.4_Missense_Mutation_p.I90M	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	90					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					ATATTTACATCTTTAACCTGG	0.577																																						uc002yic.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(268-270)ATC>ATG		opiate receptor-like 1							127.0	134.0	132.0					20																	62729191		2203	4300	6503	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729191C>G		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.270C>G	20.37:g.62729191C>G	ENSP00000336764:p.Ile90Met					OPRL1_uc002yid.2_Missense_Mutation_p.I90M|OPRL1_uc002yif.3_Missense_Mutation_p.I85M	p.I90M	NM_182647	NP_872588	P41146	OPRX_HUMAN			4	672	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		90			Helical; Name=2; (Potential).		Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.270C>G	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291603	0.59976	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.38887	1.11;1.11;1.11	4.75	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.102379	0.64402	D	0.000003	T	0.62684	0.2448	M	0.88450	2.955	0.53005	D	0.999961	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.59958	-0.7356	10	0.87932	D	0	.	4.7955	0.13270	0.1544:0.607:0.0:0.2386	.	85;90	P41146-2;P41146	.;OPRX_HUMAN	M	90	ENSP00000336843:I90M;ENSP00000347848:I90M;ENSP00000336764:I90M	ENSP00000336843:I90M	I	+	3	3	OPRL1	62199635	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	1.973000	0.40550	0.149000	0.19098	0.551000	0.68910	ATC		0.577	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		42	116	0	0	0	0	42	116				
MYT1	4661	broad.mit.edu	37	20	62837126	62837126	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr20:62837126G>T	ENST00000328439.1	+	6	734	c.370G>T	c.(370-372)Gag>Tag	p.E124*	MYT1_ENST00000536311.1_Nonsense_Mutation_p.E124*|MYT1_ENST00000360149.4_Nonsense_Mutation_p.E124*	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGACAGGACGAGATTCATCG	0.587																																					GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NA																	0				ovary(2)	2						c.(370-372)GAG>TAG		myelin transcription factor 1							56.0	54.0	55.0					20																	62837126		2203	4300	6503	SO:0001587	stop_gained	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62837126G>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.370G>T	20.37:g.62837126G>T	ENSP00000327465:p.Glu124*					MYT1_uc002yih.2_Nonsense_Mutation_p.E124*|MYT1_uc002yij.2_5'Flank	p.E124*	NM_004535	NP_004526	Q01538	MYT1_HUMAN			6	734	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		124					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Nonsense_Mutation	SNP	ENST00000328439.1	37	c.370G>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	39	7.820138	0.98507	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	.	.	.	5.58	3.56	0.40772	.	0.308416	0.29987	N	0.010682	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-9.2421	15.5894	0.76512	0.0:0.2608:0.7392:0.0	.	.	.	.	X	124	.	ENSP00000327465:E124X	E	+	1	0	MYT1	62307570	1.000000	0.71417	0.996000	0.52242	0.854000	0.48673	3.629000	0.54266	0.667000	0.31107	0.655000	0.94253	GAG		0.587	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		7	24	1	0	8.13e-05	8.83e-05	7	24				
MICAL3	57553	broad.mit.edu	37	22	18273802	18273802	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr22:18273802C>A	ENST00000441493.2	-	31	6138	c.5786G>T	c.(5785-5787)cGa>cTa	p.R1929L	XXbac-B461K10.4_ENST00000476405.1_RNA|MICAL3_ENST00000580469.1_5'UTR	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1929					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGCTGCAGTCGACTCTGCCG	0.662																																						uc002zng.3		NA																	0					0						c.(5785-5787)CGA>CTA		microtubule associated monoxygenase, calponin							36.0	43.0	41.0					22																	18273802		2113	4241	6354	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18273802C>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.5786G>T	22.37:g.18273802C>A	ENSP00000416015:p.Arg1929Leu					MICAL3_uc011agl.1_Missense_Mutation_p.R1845L|MICAL3_uc010grd.1_Missense_Mutation_p.R45L|MICAL3_uc010gre.1_RNA	p.R1929L	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	31	6139	-		all_epithelial(15;0.198)	1929			Potential.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.5786G>T	CCDS46659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.56|17.56	3.420585|3.420585	0.62622|0.62622	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000252134|ENST00000441493	.|T	.|0.44881	.|0.91	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Domain of unknown function DUF3585 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56587|0.56587	0.1995|0.1995	L|L	0.39020|0.39020	1.185|1.185	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	T|T	0.52902|0.52902	-0.8513|-0.8513	5|10	.|0.38643	.|T	.|0.18	.|.	19.0447|19.0447	0.93015|0.93015	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1929	.|Q7RTP6	.|MICA3_HUMAN	Y|L	911|1929	.|ENSP00000416015:R1929L	.|ENSP00000416015:R1929L	D|R	-|-	1|2	0|0	XXbac-B461K10.4|XXbac-B461K10.4	16653802|16653802	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.984000|0.984000	0.73092|0.73092	7.813000|7.813000	0.86123|0.86123	2.510000|2.510000	0.84645|0.84645	0.591000|0.591000	0.81541|0.81541	GAC|CGA		0.662	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			9	14	1	0	1.13e-05	1.26e-05	9	14				
RIMBP3	85376	broad.mit.edu	37	22	20458180	20458180	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr22:20458180T>A	ENST00000426804.1	-	1	3606	c.3122A>T	c.(3121-3123)tAc>tTc	p.Y1041F	SCARNA17_ENST00000516762.1_RNA|SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1041	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CTGGAAGGTGTAGCAGCTCAC	0.642																																						uc002zsd.3		NA																	0					0						c.(3121-3123)TAC>TTC		RIMS binding protein 3							38.0	51.0	47.0					22																	20458180		2071	4208	6279	SO:0001583	missense	85376							g.chr22:20458180T>A	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.3122A>T	22.37:g.20458180T>A	ENSP00000391564:p.Tyr1041Phe						p.Y1041F	NM_015672	NP_056487			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	3607	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.3122A>T	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.661886	0.47572	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.54866	0.55	3.56	2.52	0.30459	Fibronectin, type III (2);	0.294113	0.28921	N	0.013708	T	0.58892	0.2154	M	0.71581	2.175	0.24595	N	0.993804	D	0.65815	0.995	P	0.61477	0.889	T	0.47911	-0.9080	10	0.27082	T	0.32	-3.0127	3.4376	0.07452	0.0:0.1271:0.2389:0.634	.	947	Q9UFD9	RIM3A_HUMAN	F	947;1041	ENSP00000391564:Y1041F	ENSP00000347318:Y947F	Y	-	2	0	RIMBP3	18838180	1.000000	0.71417	0.790000	0.31976	0.382000	0.30200	2.004000	0.40854	1.625000	0.50366	0.327000	0.21459	TAC		0.642	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		4	29	0	0	0	0	4	29				
ZNF280B	140883	broad.mit.edu	37	22	22843194	22843194	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr22:22843194G>C	ENST00000406426.1	-	4	1272	c.530C>G	c.(529-531)aCt>aGt	p.T177S	ZNF280B_ENST00000360412.2_Missense_Mutation_p.T177S			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TACTTCGAAAGTGGAAAGTTG	0.383																																						uc002zwc.1		NA																	0				ovary(2)	2						c.(529-531)ACT>AGT		zinc finger protein 280B							113.0	114.0	114.0					22																	22843194		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22843194G>C	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.530C>G	22.37:g.22843194G>C	ENSP00000385998:p.Thr177Ser					LOC96610_uc011aim.1_Intron	p.T177S	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	1306	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	177						Missense_Mutation	SNP	ENST00000406426.1	37	c.530C>G	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	G	9.908	1.208706	0.22205	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.27720	1.65;1.65	4.32	1.04	0.20106	.	.	.	.	.	T	0.27313	0.0670	L	0.54323	1.7	0.09310	N	0.999999	P	0.43578	0.811	B	0.43838	0.433	T	0.13308	-1.0514	9	0.38643	T	0.18	0.0102	3.2196	0.06711	0.2208:0.0:0.5691:0.2101	.	177	Q86YH2	Z280B_HUMAN	S	177	ENSP00000385998:T177S;ENSP00000353586:T177S	ENSP00000353586:T177S	T	-	2	0	ZNF280B	21173194	0.934000	0.31675	0.407000	0.26434	0.196000	0.23810	1.335000	0.33839	0.537000	0.28751	0.655000	0.94253	ACT		0.383	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		68	66	0	0	0	0	68	66				
ADRBK2	157	broad.mit.edu	37	22	26040617	26040617	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr22:26040617G>A	ENST00000324198.6	+	3	441	c.249G>A	c.(247-249)gtG>gtA	p.V83V		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	83	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TACCTCAGGTGAAGTTTTATG	0.279																																						uc003abx.3		NA																	0				lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7						c.(247-249)GTG>GTA		beta-adrenergic receptor kinase 2	Adenosine triphosphate(DB00171)						47.0	47.0	47.0					22																	26040617		2200	4288	6488	SO:0001819	synonymous_variant	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26040617G>A	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.249G>A	22.37:g.26040617G>A						ADRBK2_uc010gux.2_Silent_p.V83V|ADRBK2_uc003abw.2_5'UTR|ADRBK2_uc003aby.3_RNA	p.V83V	NM_005160	NP_005151	P35626	ARBK2_HUMAN			3	396	+			83			N-terminal.|RGS.		Q9UGW9	Silent	SNP	ENST00000324198.6	37	c.249G>A	CCDS13832.1																																																																																				0.279	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		8	15	0	0	0	0	8	15				
HPS4	89781	broad.mit.edu	37	22	26860632	26860632	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr22:26860632T>C	ENST00000398145.2	-	11	1580	c.964A>G	c.(964-966)Agg>Ggg	p.R322G	HPS4_ENST00000336873.5_Missense_Mutation_p.R322G|HPS4_ENST00000398141.1_Missense_Mutation_p.R335G|HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000402105.3_Missense_Mutation_p.R317G	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	322					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TTCTCCTTCCTGCCATCTGGA	0.587									Hermansky-Pudlak syndrome																													uc003acl.2		NA																	0					0						c.(964-966)AGG>GGG		light ear protein isoform a							97.0	89.0	92.0					22																	26860632		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26860632T>C		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.964A>G	22.37:g.26860632T>C	ENSP00000381213:p.Arg322Gly					HPS4_uc003aci.2_Missense_Mutation_p.R317G|HPS4_uc003acj.2_Missense_Mutation_p.R186G|HPS4_uc003ack.2_Missense_Mutation_p.R113G|HPS4_uc003acn.2_Missense_Mutation_p.R168G|HPS4_uc010gvd.1_Missense_Mutation_p.R340G|HPS4_uc003ach.2_Missense_Mutation_p.R57G	p.R322G	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN			11	1623	-			322					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.964A>G	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.588084	0.28268	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	T;T;T;T;T	0.56103	1.49;1.49;1.49;1.49;0.48	4.56	1.06	0.20224	.	1.341390	0.04797	N	0.432765	T	0.42720	0.1215	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B;B	0.27732	0.029;0.187;0.103;0.029;0.07;0.103	B;B;B;B;B;B	0.25140	0.023;0.058;0.058;0.023;0.033;0.058	T	0.39078	-0.9631	10	0.52906	T	0.07	-0.0236	5.0701	0.14602	0.1783:0.0:0.3689:0.4528	.	322;322;322;322;335;317	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	G	322;335;317;322;340;340	ENSP00000381213:R322G;ENSP00000381210:R335G;ENSP00000384185:R317G;ENSP00000338457:R322G;ENSP00000415081:R340G	ENSP00000325840:R340G	R	-	1	2	HPS4	25190632	0.047000	0.20315	0.525000	0.27900	0.129000	0.20672	0.160000	0.16462	0.754000	0.32968	0.533000	0.62120	AGG		0.587	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		16	67	0	0	0	0	16	67				
CAND2	23066	broad.mit.edu	37	3	12868994	12868994	+	Missense_Mutation	SNP	C	C	T	rs200074296		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:12868994C>T	ENST00000456430.2	+	13	3307	c.3266C>T	c.(3265-3267)gCg>gTg	p.A1089V	CAND2_ENST00000295989.5_Missense_Mutation_p.A972V	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	1089					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTGCGGAAGGCGGCCTTTGAA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		19096	0.0		0.0	False		,,,				2504	0.001				GBM(43;676 868 1633 6395 37496)	uc003bxk.2		NA																	0				skin(3)|pancreas(1)	4						c.(3265-3267)GCG>GTG		TBP-interacting protein isoform 1		C	VAL/ALA,VAL/ALA	2,4068		0,2,2033	122.0	123.0	122.0		3266,2915	5.0	1.0	3		122	0,8378		0,0,4189	yes	missense,missense	CAND2	NM_001162499.1,NM_012298.2	64,64	0,2,6222	TT,TC,CC		0.0,0.0491,0.0161	probably-damaging,probably-damaging	1089/1237,972/1120	12868994	2,12446	2035	4189	6224	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12868994C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.3266C>T	3.37:g.12868994C>T	ENSP00000387641:p.Ala1089Val					CAND2_uc003bxj.2_Missense_Mutation_p.A972V	p.A1089V	NM_001162499	NP_001155971	O75155	CAND2_HUMAN			13	3315	+			1089					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.3266C>T	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	C	32	5.111370	0.94339	4.91E-4	0.0	ENSG00000144712	ENST00000295989;ENST00000456430;ENST00000454887	T;T;T	0.66280	-0.2;-0.2;-0.2	5.03	5.03	0.67393	TATA-binding protein interacting (TIP20) (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.133896	0.48286	D	0.000183	T	0.81912	0.4923	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.987	D	0.85199	0.1014	10	0.59425	D	0.04	-18.3621	15.8458	0.78887	0.0:1.0:0.0:0.0	.	1089;972	O75155;O75155-2	CAND2_HUMAN;.	V	972;1089;17	ENSP00000295989:A972V;ENSP00000387641:A1089V;ENSP00000403093:A17V	ENSP00000295989:A972V	A	+	2	0	CAND2	12843994	1.000000	0.71417	0.992000	0.48379	0.840000	0.47671	7.661000	0.83786	2.348000	0.79779	0.467000	0.42956	GCG		0.562	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		3	41	0	0	0	0	3	41				
EPM2AIP1	9852	broad.mit.edu	37	3	37034472	37034472	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:37034472C>A	ENST00000322716.5	-	1	323	c.97G>T	c.(97-99)Gag>Tag	p.E33*	MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000536378.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	33					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CCATCGCCCTCCGGAGGCTCC	0.607																																						uc003cgk.2		NA																	0					0						c.(97-99)GAG>TAG		EPM2A interacting protein 1							37.0	43.0	41.0					3																	37034472		2013	4171	6184	SO:0001587	stop_gained	9852					endoplasmic reticulum		g.chr3:37034472C>A	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.97G>T	3.37:g.37034472C>A	ENSP00000406027:p.Glu33*					MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	p.E33*	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN			1	324	-			33					O94866|Q9H3L3	Nonsense_Mutation	SNP	ENST00000322716.5	37	c.97G>T	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035430	0.93630	.	.	ENSG00000178567	ENST00000322716	.	.	.	5.09	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-7.756	11.6708	0.51399	0.0:0.8217:0.1783:0.0	.	.	.	.	X	33	.	ENSP00000406027:E33X	E	-	1	0	EPM2AIP1	37009476	0.989000	0.36119	1.000000	0.80357	0.403000	0.30841	2.357000	0.44125	1.487000	0.48415	0.655000	0.94253	GAG		0.607	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		23	15	1	0	3.84e-06	4.32e-06	23	15				
ZDHHC3	51304	broad.mit.edu	37	3	45000811	45000811	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:45000811G>A	ENST00000424952.2	-	2	386	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	ZDHHC3_ENST00000296127.3_Missense_Mutation_p.R40C|ZDHHC3_ENST00000342790.4_Missense_Mutation_p.R40C	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	40					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		CAGCCGTCACGGATAAACCAC	0.547																																						uc003cod.2		NA																	0					0						c.(118-120)CGT>TGT		zinc finger, DHHC-type containing 3 isoform 2							123.0	118.0	120.0					3																	45000811		2203	4300	6503	SO:0001583	missense	51304					Golgi membrane|integral to membrane	zinc ion binding	g.chr3:45000811G>A	AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"""Zinc fingers, DHHC-type"""	18470	protein-coding gene	gene with protein product	"""golgi-specific DHHC Zinc Finger Protein"""					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.118C>T	3.37:g.45000811G>A	ENSP00000395502:p.Arg40Cys					ZDHHC3_uc003cog.2_Missense_Mutation_p.R40C|ZDHHC3_uc011bad.1_Missense_Mutation_p.R40C	p.R40C	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)	2	392	-			40			Cytoplasmic (Potential).		Q53A17|Q96BL0	Missense_Mutation	SNP	ENST00000424952.2	37	c.118C>T	CCDS46811.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492306	0.44352	.	.	ENSG00000163812	ENST00000296127;ENST00000424952;ENST00000342790	T;T;T	0.60672	1.0;1.23;0.17	5.97	4.1	0.47936	.	0.100778	0.64402	D	0.000007	T	0.54062	0.1835	M	0.69463	2.115	0.80722	D	1	B;B;B	0.21821	0.051;0.061;0.051	B;B;B	0.18263	0.013;0.021;0.008	T	0.55872	-0.8072	10	0.49607	T	0.09	.	11.1194	0.48279	0.0:0.1245:0.6175:0.258	.	40;40;40	E9PGS3;Q9NYG2-2;Q9NYG2	.;.;ZDHC3_HUMAN	C	40	ENSP00000296127:R40C;ENSP00000395502:R40C;ENSP00000345268:R40C	ENSP00000296127:R40C	R	-	1	0	ZDHHC3	44975815	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.543000	0.53633	1.507000	0.48752	0.655000	0.94253	CGT		0.547	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347004.1	NM_016598		45	36	0	0	0	0	45	36				
DOCK3	1795	broad.mit.edu	37	3	51399418	51399418	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:51399418A>T	ENST00000266037.9	+	48	5158	c.5135A>T	c.(5134-5136)cAc>cTc	p.H1712L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1712					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GACCTGTACCACCACATGCAG	0.552																																						uc011bds.1		NA																	0					0						c.(5134-5136)CAC>CTC		dedicator of cytokinesis 3							70.0	72.0	72.0					3																	51399418		2138	4251	6389	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51399418A>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5135A>T	3.37:g.51399418A>T	ENSP00000266037:p.His1712Leu						p.H1712L	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	48	5158	+			1712					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.5135A>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.366373	0.41902	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.04706	3.57	5.31	5.31	0.75309	.	0.139100	0.49916	D	0.000122	T	0.05686	0.0149	L	0.36672	1.1	0.41603	D	0.988865	B	0.21452	0.056	B	0.16722	0.016	T	0.41413	-0.9510	10	0.27082	T	0.32	.	15.5646	0.76281	1.0:0.0:0.0:0.0	.	1712	Q8IZD9	DOCK3_HUMAN	L	1712;508	ENSP00000266037:H1712L	ENSP00000266037:H1712L	H	+	2	0	DOCK3	51374458	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.524000	0.45589	2.125000	0.65367	0.533000	0.62120	CAC		0.552	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		9	5	0	0	0	0	9	5				
ROBO1	6091	broad.mit.edu	37	3	78701019	78701019	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:78701019T>A	ENST00000464233.1	-	19	2788	c.2675A>T	c.(2674-2676)gAt>gTt	p.D892V	ROBO1_ENST00000436010.2_Missense_Mutation_p.D853V|ROBO1_ENST00000467549.1_Missense_Mutation_p.D856V|ROBO1_ENST00000495273.1_Missense_Mutation_p.D856V	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	892					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTTCACCACATCTGAAATCTG	0.498																																						uc003dqe.2		NA																	0				large_intestine(2)	2						c.(2674-2676)GAT>GTT		roundabout 1 isoform a							136.0	136.0	136.0					3																	78701019		2046	4191	6237	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78701019T>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2675A>T	3.37:g.78701019T>A	ENSP00000420321:p.Asp892Val					ROBO1_uc003dqb.2_Missense_Mutation_p.D853V|ROBO1_uc003dqc.2_Missense_Mutation_p.D856V|ROBO1_uc003dqd.2_Missense_Mutation_p.D856V|ROBO1_uc010hoh.2_Missense_Mutation_p.D84V|ROBO1_uc011bgl.1_Missense_Mutation_p.D464V	p.D892V	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	19	2883	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	892			Extracellular (Potential).		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.2675A>T	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.095697	0.56075	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.63255	-0.01;-0.03;0.0;0.08	5.98	5.98	0.97165	.	0.040784	0.85682	D	0.000000	T	0.77370	0.4120	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D	0.89917	0.982;0.999;1.0;0.999;0.995	P;D;D;D;D	0.73380	0.698;0.98;0.974;0.98;0.974	T	0.77016	-0.2744	9	.	.	.	.	16.4622	0.84064	0.0:0.0:0.0:1.0	.	856;892;856;856;853	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	V	853;856;892;856;856;896	ENSP00000406043:D853V;ENSP00000420321:D892V;ENSP00000420637:D856V;ENSP00000417992:D856V	.	D	-	2	0	ROBO1	78783709	1.000000	0.71417	0.107000	0.21349	0.002000	0.02628	8.040000	0.89188	2.289000	0.77006	0.533000	0.62120	GAT		0.498	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		51	39	0	0	0	0	51	39				
CADM2	253559	broad.mit.edu	37	3	85984983	85984983	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:85984983C>A	ENST00000407528.2	+	6	802	c.740C>A	c.(739-741)aCt>aAt	p.T247N	CADM2_ENST00000383699.3_Missense_Mutation_p.T256N|CADM2_ENST00000405615.2_Missense_Mutation_p.T249N	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	247	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TTAATTTTGACTTGTGAATCC	0.308																																						uc003dqj.2		NA																	0				ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(739-741)ACT>AAT		immunoglobulin superfamily, member 4D							96.0	102.0	100.0					3																	85984983		2203	4297	6500	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85984983C>A	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.740C>A	3.37:g.85984983C>A	ENSP00000384575:p.Thr247Asn					CADM2_uc003dqk.2_Missense_Mutation_p.T256N|CADM2_uc003dql.2_Missense_Mutation_p.T249N	p.T247N	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	6	1366	+		Lung NSC(201;0.0148)	247			Ig-like C2-type 2.|Extracellular (Potential).		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.740C>A	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412622	0.42817	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.67171	-0.25;-0.25;-0.25	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.206985	0.52532	D	0.000074	T	0.59321	0.2185	L	0.46614	1.455	0.38391	D	0.945399	B;P;P	0.35348	0.23;0.496;0.491	B;B;B	0.38562	0.173;0.276;0.239	T	0.57997	-0.7714	10	0.21540	T	0.41	.	10.394	0.44190	0.0:0.8552:0.0:0.1448	.	249;256;247	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	N	256;247;249	ENSP00000373200:T256N;ENSP00000384575:T247N;ENSP00000384193:T249N	ENSP00000373200:T256N	T	+	2	0	CADM2	86067673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.847000	0.48270	2.724000	0.93272	0.650000	0.86243	ACT		0.308	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		57	43	1	0	6.13e-21	8.29e-21	57	43				
CRYBG3	131544	broad.mit.edu	37	3	97596761	97596761	+	Silent	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:97596761G>T	ENST00000182096.4	+	1	943	c.879G>T	c.(877-879)ctG>ctT	p.L293L		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2241							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						ATCAGTATCTGCAGACTTCCC	0.418																																						uc003drx.2		NA																	0					0						c.(877-879)CTG>CTT		beta-gamma crystallin domain containing 3							83.0	79.0	80.0					3																	97596761		1826	4094	5920	SO:0001819	synonymous_variant	131544							g.chr3:97596761G>T			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.879G>T	3.37:g.97596761G>T							p.L293L	NM_153605	NP_705833					1	943	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Silent	SNP	ENST00000182096.4	37	c.879G>T																																																																																					0.418	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		10	56	1	0	7.04e-09	8.38e-09	10	56				
ZBTB11	27107	broad.mit.edu	37	3	101390839	101390839	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:101390839T>A	ENST00000312938.4	-	2	1109	c.529A>T	c.(529-531)Aaa>Taa	p.K177*	ZBTB11_ENST00000461821.1_Nonsense_Mutation_p.K177*	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGTTCATGTTTGGATACTGGC	0.388																																						uc003dve.3		NA																	0				skin(1)	1						c.(529-531)AAA>TAA		zinc finger protein ZNF-U69274							110.0	117.0	114.0					3																	101390839		2203	4300	6503	SO:0001587	stop_gained	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101390839T>A	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.529A>T	3.37:g.101390839T>A	ENSP00000326200:p.Lys177*					ZBTB11_uc003dvf.2_Nonsense_Mutation_p.K177*	p.K177*	NM_014415	NP_055230	O95625	ZBT11_HUMAN			2	759	-			177					Q2NKP9	Nonsense_Mutation	SNP	ENST00000312938.4	37	c.529A>T	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	T	37	6.432777	0.97564	.	.	ENSG00000066422	ENST00000312938;ENST00000461821	.	.	.	5.96	5.96	0.96718	.	0.094359	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.7942	16.4277	0.83824	0.0:0.0:0.0:1.0	.	.	.	.	X	177	.	ENSP00000326200:K177X	K	-	1	0	ZBTB11	102873529	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.838000	0.75359	2.279000	0.76181	0.533000	0.62120	AAA		0.388	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		14	59	0	0	0	0	14	59				
DZIP3	9666	broad.mit.edu	37	3	108335438	108335438	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:108335438G>A	ENST00000361582.3	+	5	539	c.309G>A	c.(307-309)ttG>ttA	p.L103L	DZIP3_ENST00000463306.1_Silent_p.L103L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	103					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTCCTGCTTTGACTTTACGTT	0.353																																						uc003dxd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(307-309)TTG>TTA		DAZ interacting protein 3, zinc finger							176.0	169.0	172.0					3																	108335438		2203	4300	6503	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108335438G>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.309G>A	3.37:g.108335438G>A						DZIP3_uc003dxf.1_Silent_p.L103L|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Silent_p.L103L	p.L103L	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			5	731	+			103					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.309G>A	CCDS2952.1																																																																																				0.353	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		20	62	0	0	0	0	20	62				
POLQ	10721	broad.mit.edu	37	3	121260261	121260261	+	Silent	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:121260261G>T	ENST00000264233.5	-	3	537	c.409C>A	c.(409-411)Cgg>Agg	p.R137R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	137	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GCTTTCTTCCGCATTTCCAAA	0.353								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(409-411)CGG>AGG	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							144.0	160.0	155.0					3																	121260261		2203	4300	6503	SO:0001819	synonymous_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121260261G>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.409C>A	3.37:g.121260261G>T							p.R137R	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	3	538	-			137			Helicase ATP-binding.		O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.409C>A	CCDS33833.1																																																																																				0.353	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		47	176	1	0	1.01e-21	1.37e-21	47	176				
SEMA5B	54437	broad.mit.edu	37	3	122629074	122629074	+	Silent	SNP	C	C	A	rs376746478		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:122629074C>A	ENST00000357599.3	-	23	3758	c.3372G>T	c.(3370-3372)acG>acT	p.T1124T	SEMA5B_ENST00000451055.2_Silent_p.T1178T|SEMA5B_ENST00000195173.4_3'UTR	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	1124					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGTAAGTAGTCGTGTACACAT	0.547																																						uc003efz.1		NA																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(3370-3372)ACG>ACT		semaphorin 5B isoform 1							202.0	170.0	181.0					3																	122629074		2203	4300	6503	SO:0001819	synonymous_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122629074C>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.3372G>T	3.37:g.122629074C>A						SEMA5B_uc011bju.1_Silent_p.T1030T|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003efy.1_Silent_p.T102T	p.T1124T	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	23	3676	-			1124			Cytoplasmic (Potential).		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.3372G>T	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	7.958	0.746384	0.15710	.	.	ENSG00000082684	ENST00000451541	.	.	.	5.06	-5.83	0.02325	.	.	.	.	.	T	0.53706	0.1813	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56269	-0.8007	4	.	.	.	.	11.2609	0.49083	0.0:0.2191:0.1011:0.6798	.	.	.	.	L	170	.	.	R	-	2	0	SEMA5B	124111764	0.001000	0.12720	0.793000	0.32043	0.971000	0.66376	-1.755000	0.01814	-1.292000	0.02366	-0.781000	0.03364	CGA		0.547	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		12	54	1	0	1.36e-13	1.74e-13	12	54				
KALRN	8997	broad.mit.edu	37	3	124048750	124048750	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:124048750G>A	ENST00000240874.3	+	8	1478	c.1321G>A	c.(1321-1323)Ggt>Agt	p.G441S	KALRN_ENST00000460856.1_Missense_Mutation_p.G441S|KALRN_ENST00000360013.3_Missense_Mutation_p.G441S	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	441					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTGCAGTGAAGGTGGTCTGCC	0.577																																						uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(1321-1323)GGT>AGT		kalirin, RhoGEF kinase isoform 1							122.0	97.0	106.0					3																	124048750		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124048750G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1321G>A	3.37:g.124048750G>A	ENSP00000240874:p.Gly441Ser					KALRN_uc010hrv.1_Missense_Mutation_p.G441S|KALRN_uc003ehf.1_Missense_Mutation_p.G441S|KALRN_uc011bjy.1_Missense_Mutation_p.G441S	p.G441S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			8	1448	+			441					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1321G>A	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282559	0.40394	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.59502	0.85;0.77;0.26	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	L	0.31207	0.915	0.80722	D	1	P;D;D	0.64830	0.928;0.994;0.957	P;P;P	0.59221	0.515;0.854;0.709	T	0.49390	-0.8945	10	0.07990	T	0.79	.	18.8402	0.92180	0.0:0.0:1.0:0.0	.	441;441;441	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	S	441	ENSP00000418611:G441S;ENSP00000240874:G441S;ENSP00000353109:G441S	ENSP00000240874:G441S	G	+	1	0	KALRN	125531440	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.764000	0.85297	2.757000	0.94681	0.655000	0.94253	GGT		0.577	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		34	32	0	0	0	0	34	32				
PLXNA1	5361	broad.mit.edu	37	3	126739087	126739087	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:126739087A>T	ENST00000393409.2	+	20	3938	c.3938A>T	c.(3937-3939)gAc>gTc	p.D1313V	PLXNA1_ENST00000251772.4_Missense_Mutation_p.D1290V	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1313					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGACCAATGACCTGGACGGT	0.627																																						uc003ejg.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3868-3870)GAC>GTC		plexin A1							105.0	90.0	95.0					3																	126739087		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126739087A>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3938A>T	3.37:g.126739087A>T	ENSP00000377061:p.Asp1313Val						p.D1290V	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	20	3873	+			1313			Potential.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000393409.2	37	c.3869A>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235205	0.79800	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.12569	2.67;2.67	3.96	3.96	0.45880	.	0.000000	0.64402	D	0.000001	T	0.28200	0.0696	M	0.67569	2.06	0.80722	D	1	P	0.49862	0.929	P	0.54629	0.757	T	0.04811	-1.0925	10	0.87932	D	0	.	13.2837	0.60230	1.0:0.0:0.0:0.0	.	1313	Q9UIW2	PLXA1_HUMAN	V	1313;1290	ENSP00000377061:D1313V;ENSP00000251772:D1290V	ENSP00000251772:D1290V	D	+	2	0	PLXNA1	128221777	1.000000	0.71417	0.995000	0.50966	0.765000	0.43378	9.094000	0.94168	1.775000	0.52247	0.477000	0.44152	GAC		0.627	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		20	37	0	0	0	0	20	37				
GATA2	2624	broad.mit.edu	37	3	128202703	128202703	+	Splice_Site	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:128202703C>T	ENST00000341105.2	-	4	1348	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	GATA2_ENST00000489987.1_5'Flank|GATA2_ENST00000487848.1_Splice_Site_p.L339L|GATA2_ENST00000430265.2_Splice_Site_p.L339L	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	339					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CCGCTCCTACCAGTCTTCGCT	0.602			Mis		AML(CML blast transformation)																																	uc003ekm.3		NA		Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		0				haematopoietic_and_lymphoid_tissue(13)|lung(1)|skin(1)	15						c.(1015-1017)CTG>CTA		GATA binding protein 2 isoform 1							76.0	64.0	68.0					3																	128202703		2203	4300	6503	SO:0001630	splice_region_variant	2624				blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr3:128202703C>T	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1017+1G>A	3.37:g.128202703C>T						GATA2_uc003ekn.3_Silent_p.L339L|GATA2_uc003eko.2_Silent_p.L339L	p.L339L	NM_001145661	NP_001139133	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	5	1452	-			339					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Silent	SNP	ENST00000341105.2	37	c.1017G>A	CCDS3049.1																																																																																				0.602	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638	Silent	3	49	0	0	0	0	3	49				
PIK3R4	30849	broad.mit.edu	37	3	130405134	130405134	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:130405134C>T	ENST00000356763.3	-	15	3953	c.3396G>A	c.(3394-3396)gcG>gcA	p.A1132A	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1132					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTAAAGTCCACGCATTGCTTG	0.473																																						uc003enj.2		NA																	0				ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(3394-3396)GCG>GCA		phosphoinositide-3-kinase, regulatory subunit 4							131.0	117.0	122.0					3																	130405134		2203	4300	6503	SO:0001819	synonymous_variant	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130405134C>T	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3396G>A	3.37:g.130405134C>T							p.A1132A	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			15	3977	-			1132			WD 3.		Q2TBF4	Silent	SNP	ENST00000356763.3	37	c.3396G>A	CCDS3067.1																																																																																				0.473	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		26	45	0	0	0	0	26	45				
PRR23B	389151	broad.mit.edu	37	3	138738793	138738793	+	Silent	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:138738793C>A	ENST00000329447.5	-	1	975	c.711G>T	c.(709-711)ccG>ccT	p.P237P	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	237	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCCCACGCACGGAGAGGGAG	0.662																																						uc003esy.1		NA																	0				breast(1)	1						c.(709-711)CCG>CCT		proline rich 23B							25.0	28.0	27.0					3																	138738793		2201	4296	6497	SO:0001819	synonymous_variant	389151							g.chr3:138738793C>A	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.711G>T	3.37:g.138738793C>A							p.P237P	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			1	976	-			237			Pro-rich.		B2RNV9	Silent	SNP	ENST00000329447.5	37	c.711G>T	CCDS33868.1																																																																																				0.662	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		14	18	1	0	7.93e-07	9.07e-07	14	18				
ZIC1	7545	broad.mit.edu	37	3	147128846	147128846	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:147128846C>G	ENST00000282928.4	+	1	1676	c.947C>G	c.(946-948)tCc>tGc	p.S316C		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	316					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S316C(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TTCGCGCGCTCCGAGAATTTA	0.552																																						uc003ewe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(946-948)TCC>TGC		zinc finger protein of the cerebellum 1							52.0	56.0	55.0					3																	147128846		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128846C>G	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.947C>G	3.37:g.147128846C>G	ENSP00000282928:p.Ser316Cys						p.S316C	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1666	+			316			C2H2-type 3.		Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.947C>G	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833894	0.71373	.	.	ENSG00000152977	ENST00000282928	D	0.96232	-3.95	3.89	3.89	0.44902	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96914	0.8992	L	0.58101	1.795	0.80722	D	1	D	0.53619	0.961	P	0.58780	0.845	D	0.97700	1.0184	10	0.87932	D	0	.	16.2006	0.82071	0.0:1.0:0.0:0.0	.	316	Q15915	ZIC1_HUMAN	C	316	ENSP00000282928:S316C	ENSP00000282928:S316C	S	+	2	0	ZIC1	148611536	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.736000	0.68597	1.862000	0.54008	0.561000	0.74099	TCC		0.552	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		30	31	0	0	0	0	30	31				
AGTR1	185	broad.mit.edu	37	3	148459210	148459210	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:148459210A>T	ENST00000497524.1	+	2	779	c.388A>T	c.(388-390)Att>Ttt	p.I130F	AGTR1_ENST00000418473.2_Missense_Mutation_p.I130F|AGTR1_ENST00000542281.1_Missense_Mutation_p.I130F|AGTR1_ENST00000474935.1_Missense_Mutation_p.I130F|AGTR1_ENST00000349243.3_Missense_Mutation_p.I130F|AGTR1_ENST00000402260.1_Missense_Mutation_p.I130F|AGTR1_ENST00000404754.2_Missense_Mutation_p.I130F|AGTR1_ENST00000461609.1_Missense_Mutation_p.I130F|AGTR1_ENST00000475347.1_Missense_Mutation_p.I130F	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	130					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	ATACCTGGCTATTGTTCACCC	0.498																																						uc003ewg.2		NA																	0					0						c.(388-390)ATT>TTT		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						133.0	127.0	129.0					3																	148459210		2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459210A>T	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.388A>T	3.37:g.148459210A>T	ENSP00000419422:p.Ile130Phe					AGTR1_uc003ewh.2_Missense_Mutation_p.I130F|AGTR1_uc003ewi.2_Missense_Mutation_p.I130F|AGTR1_uc003ewj.2_Missense_Mutation_p.I130F|AGTR1_uc003ewk.2_Missense_Mutation_p.I130F	p.I130F	NM_031850	NP_114038	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	834	+			130			Cytoplasmic (Potential).		Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.388A>T	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.477481	0.84640	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	D;D;D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92883	0.7736	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94375	0.7599	10	0.87932	D	0	-17.8536	15.8327	0.78769	1.0:0.0:0.0:0.0	.	130	P30556	AGTR1_HUMAN	F	130	ENSP00000419422:I130F;ENSP00000273430:I130F;ENSP00000443186:I130F;ENSP00000398832:I130F;ENSP00000385612:I130F;ENSP00000419783:I130F;ENSP00000418084:I130F;ENSP00000418851:I130F;ENSP00000385641:I130F	ENSP00000273430:I130F	I	+	1	0	AGTR1	149941900	1.000000	0.71417	0.845000	0.33349	0.982000	0.71751	9.320000	0.96346	2.132000	0.65825	0.533000	0.62120	ATT		0.498	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			64	225	0	0	0	0	64	225				
MME	4311	broad.mit.edu	37	3	154860118	154860118	+	Splice_Site	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:154860118A>T	ENST00000460393.1	+	12	1307	c.1187A>T	c.(1186-1188)aAg>aTg	p.K396M	MME_ENST00000492661.1_Splice_Site_p.K396M|MME_ENST00000493237.1_Splice_Site_p.K396M|MME_ENST00000360490.2_Splice_Site_p.K396M|MME_ENST00000462745.1_Splice_Site_p.K396M	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	396					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GCTTTCCGCAAGGTGAAGAAA	0.388																																						uc010hvr.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1186-1188)AAG>ATG		membrane metallo-endopeptidase	Candoxatril(DB00616)						57.0	59.0	58.0					3																	154860118		2203	4300	6503	SO:0001630	splice_region_variant	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154860118A>T		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1188+1A>T	3.37:g.154860118A>T						MME_uc003fab.1_Missense_Mutation_p.K396M|MME_uc003fac.1_Missense_Mutation_p.K396M|MME_uc003fad.1_Missense_Mutation_p.K396M|MME_uc003fae.1_Missense_Mutation_p.K396M	p.K396M	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		12	1398	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	396			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.1187A>T	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.211179	0.79240	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	5.93	5.93	0.95920	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86443	0.5934	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88018	0.2767	10	0.87932	D	0	-32.8568	16.3783	0.83418	1.0:0.0:0.0:0.0	.	396	P08473	NEP_HUMAN	M	396	ENSP00000420389:K396M;ENSP00000418525:K396M;ENSP00000419653:K396M;ENSP00000417079:K396M;ENSP00000353679:K396M	ENSP00000353679:K396M	K	+	2	0	MME	156342812	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.904000	0.87408	2.261000	0.74972	0.477000	0.44152	AAG		0.388	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902	Missense_Mutation	10	107	0	0	0	0	10	107				
PLCH1	23007	broad.mit.edu	37	3	155200709	155200709	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:155200709C>A	ENST00000340059.7	-	23	3129	c.3130G>T	c.(3130-3132)Gta>Tta	p.V1044L	PLCH1_ENST00000334686.6_Missense_Mutation_p.V1006L|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000460012.1_Missense_Mutation_p.V1006L|PLCH1_ENST00000414191.1_Missense_Mutation_p.V1006L	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1044					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCAGTAGATACAATGGTGTCC	0.453																																						uc011bok.1		NA																	0				skin(3)|ovary(1)	4						c.(3130-3132)GTA>TTA		phospholipase C eta 1 isoform a							158.0	154.0	155.0					3																	155200709		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200709C>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3130G>T	3.37:g.155200709C>A	ENSP00000345988:p.Val1044Leu					PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.V1006L	p.V1044L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	3407	-			1044					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.3130G>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	9.381	1.073078	0.20147	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	4.97	-1.85	0.07784	.	2.949120	0.00659	N	0.000585	T	0.15089	0.0364	L	0.29908	0.895	0.09310	N	1	B;B	0.15141	0.012;0.001	B;B	0.18561	0.022;0.002	T	0.14476	-1.0471	10	0.25106	T	0.35	.	4.6481	0.12582	0.0:0.3424:0.2845:0.3731	.	1006;1044	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	L	1006;1044;1006;1006	ENSP00000417502:V1006L;ENSP00000345988:V1044L;ENSP00000335469:V1006L;ENSP00000412977:V1006L	ENSP00000335469:V1006L	V	-	1	0	PLCH1	156683403	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.949000	0.03893	-0.830000	0.04262	0.591000	0.81541	GTA		0.453	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		38	160	1	0	7.53e-24	1.03e-23	38	160				
C3orf33	285315	broad.mit.edu	37	3	155493562	155493562	+	Missense_Mutation	SNP	G	G	A	rs369831735	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:155493562G>A	ENST00000340171.2	-	3	348	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	C3orf33_ENST00000534941.1_Missense_Mutation_p.R41C			Q6P1S2	CC033_HUMAN	chromosome 3 open reading frame 33	84					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)			breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTTATTCGGCGTAATCGTCCA	0.303													G|||	2	0.000399361	0.0008	0.0	5008	,	,		14685	0.0		0.0	False		,,,				2504	0.001					uc003fal.1		NA																	0					0						c.(121-123)CGC>TGC		hypothetical protein LOC285315		G	CYS/ARG	2,3620		0,2,1809	105.0	105.0	105.0		121	5.4	1.0	3		105	0,8130		0,0,4065	no	missense	C3orf33	NM_173657.1	180	0,2,5874	AA,AG,GG		0.0,0.0552,0.017	probably-damaging	41/252	155493562	2,11750	1811	4065	5876	SO:0001583	missense	285315						hydrolase activity, acting on ester bonds|nucleic acid binding	g.chr3:155493562G>A	AF115515	CCDS54659.1	3q25.31	2012-10-31			ENSG00000174928	ENSG00000174928			26434	protein-coding gene	gene with protein product						20680465	Standard	NM_173657		Approved	FLJ31139, AC3-33	uc003fal.1	Q6P1S2	OTTHUMG00000158496	ENST00000340171.2:c.250C>T	3.37:g.155493562G>A	ENSP00000342512:p.Arg84Cys					C3orf33_uc003fam.1_Missense_Mutation_p.R84C	p.R41C	NM_173657	NP_775928	Q96NB5	Q96NB5_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		4	391	-			41					A8K1H5|Q86YE6|Q8IXA7|Q96NB5	Missense_Mutation	SNP	ENST00000340171.2	37	c.121C>T		.	.	.	.	.	.	.	.	.	.	G	25.6	4.649992	0.87958	5.52E-4	0.0	ENSG00000174928	ENST00000534941;ENST00000340171;ENST00000537385	T;T	0.46819	0.86;0.86	5.45	5.45	0.79879	.	0.525515	0.20035	N	0.100624	T	0.62938	0.2469	M	0.71581	2.175	0.58432	D	0.999998	D	0.69078	0.997	P	0.53861	0.736	T	0.67313	-0.5702	10	0.87932	D	0	-6.3295	18.0711	0.89407	0.0:0.0:1.0:0.0	.	84	Q6P1S2	CC033_HUMAN	C	41;84;84	ENSP00000445446:R41C;ENSP00000342512:R84C	ENSP00000342512:R84C	R	-	1	0	C3orf33	156976256	1.000000	0.71417	0.980000	0.43619	0.991000	0.79684	3.488000	0.53229	2.555000	0.86185	0.655000	0.94253	CGC		0.303	C3orf33-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351167.1	NM_173657		37	110	0	0	0	0	37	110				
TNIK	23043	broad.mit.edu	37	3	170819288	170819288	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:170819288C>T	ENST00000436636.2	-	22	2885	c.2541G>A	c.(2539-2541)gaG>gaA	p.E847E	TNIK_ENST00000470834.1_Silent_p.E810E|TNIK_ENST00000538048.1_Silent_p.E799E|TNIK_ENST00000475336.1_Silent_p.E755E|TNIK_ENST00000488470.1_Silent_p.E792E|TNIK_ENST00000460047.1_Silent_p.E784E|TNIK_ENST00000341852.6_Silent_p.E763E|TNIK_ENST00000284483.8_Silent_p.E839E|TNIK_ENST00000357327.5_Silent_p.E818E|TNIK_ENST00000369326.5_Silent_p.E825E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	847	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGGTCTCGCTCTCTCCATCTT	0.498																																						uc003fhh.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(2539-2541)GAG>GAA		TRAF2 and NCK interacting kinase isoform 1							319.0	318.0	318.0					3																	170819288		2106	4244	6350	SO:0001819	synonymous_variant	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170819288C>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2541G>A	3.37:g.170819288C>T						TNIK_uc003fhi.2_Silent_p.E792E|TNIK_uc003fhj.2_Silent_p.E818E|TNIK_uc003fhk.2_Silent_p.E839E|TNIK_uc003fhl.2_Silent_p.E763E|TNIK_uc003fhm.2_Silent_p.E784E|TNIK_uc003fhn.2_Silent_p.E810E|TNIK_uc003fho.2_Silent_p.E755E|TNIK_uc003fhg.2_Silent_p.E25E	p.E847E	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		22	2886	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		847			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	c.2541G>A	CCDS46956.1																																																																																				0.498	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		145	544	0	0	0	0	145	544				
GHSR	2693	broad.mit.edu	37	3	172163255	172163255	+	Splice_Site	SNP	G	G	C	rs147508651		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:172163255G>C	ENST00000241256.2	-	2	839	c.797C>G	c.(796-798)gCt>gGt	p.A266G		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	266					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.A266D(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CACCACTACAGCTAAAAGGAC	0.428																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	uc003fib.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|central_nervous_system(1)	5						c.(796-798)GCT>GGT		growth hormone secretagogue receptor isoform 1a							40.0	41.0	41.0					3																	172163255		2203	4300	6503	SO:0001630	splice_region_variant	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172163255G>C	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.797-1C>G	3.37:g.172163255G>C							p.A266G	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		2	797	-	Ovarian(172;0.00143)|Breast(254;0.197)		266			Helical; Name=6; (Potential).		Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	c.797C>G	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627008	0.28978	.	.	ENSG00000121853	ENST00000241256	T	0.38077	1.16	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.115168	0.64402	D	0.000017	T	0.33933	0.0880	L	0.49640	1.575	0.80722	D	1	B	0.17038	0.02	B	0.23150	0.044	T	0.04495	-1.0947	10	0.27082	T	0.32	.	13.5034	0.61471	0.0796:0.0:0.9204:0.0	.	266	Q92847	GHSR_HUMAN	G	266	ENSP00000241256:A266G	ENSP00000241256:A266G	A	-	2	0	GHSR	173645949	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.115000	0.57865	2.937000	0.99478	0.650000	0.86243	GCT		0.428	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122	Missense_Mutation	15	24	0	0	0	0	15	24				
MFN1	55669	broad.mit.edu	37	3	179103449	179103449	+	Silent	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:179103449A>T	ENST00000471841.1	+	15	1881	c.1755A>T	c.(1753-1755)gtA>gtT	p.V585V	MFN1_ENST00000263969.5_Silent_p.V585V|MFN1_ENST00000280653.7_Silent_p.V474V	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	585					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTACATTAGTAACAGGATTGG	0.403																																						uc003fjs.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1753-1755)GTA>GTT		mitofusin 1							127.0	116.0	120.0					3																	179103449		2203	4300	6503	SO:0001819	synonymous_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179103449A>T	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.1755A>T	3.37:g.179103449A>T						MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.V613V|MFN1_uc010hxc.2_Silent_p.V327V	p.V585V	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		15	1881	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		585			Helical; Name=1; (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	37	c.1755A>T	CCDS3228.1																																																																																				0.403	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		33	120	0	0	0	0	33	120				
LAMP3	27074	broad.mit.edu	37	3	182841990	182841990	+	Nonsense_Mutation	SNP	G	G	T	rs187909317	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr3:182841990G>T	ENST00000265598.3	-	6	1385	c.1130C>A	c.(1129-1131)tCg>tAg	p.S377*	LAMP3_ENST00000466939.1_Nonsense_Mutation_p.S353*	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	377					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GTAGTCAGACGAGCACTCATC	0.463																																						uc003flh.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1129-1131)TCG>TAG		lysosomal-associated membrane protein 3							121.0	110.0	114.0					3																	182841990		2203	4300	6503	SO:0001587	stop_gained	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182841990G>T	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.1130C>A	3.37:g.182841990G>T	ENSP00000265598:p.Ser377*						p.S377*	NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		6	1354	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		377			Lumenal (Potential).		D3DNS4|O94781|Q8NEC8	Nonsense_Mutation	SNP	ENST00000265598.3	37	c.1130C>A	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	G	38	6.785499	0.97837	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	.	.	.	6.06	5.18	0.71444	.	0.282600	0.25634	N	0.029327	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9934	10.4461	0.44495	0.0901:0.0:0.9099:0.0	.	.	.	.	X	377;353	.	ENSP00000265598:S377X	S	-	2	0	LAMP3	184324684	0.991000	0.36638	0.510000	0.27712	0.983000	0.72400	3.478000	0.53158	1.547000	0.49401	0.655000	0.94253	TCG		0.463	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			16	129	1	0	2.49e-13	3.14e-13	16	129				
GAK	2580	broad.mit.edu	37	4	845576	845576	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:845576C>A	ENST00000314167.4	-	25	3580	c.3470G>T	c.(3469-3471)gGg>gTg	p.G1157V	GAK_ENST00000511163.1_Missense_Mutation_p.G1078V|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1157					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTCCCGCGCCCCGATCACACT	0.647																																						uc003gbm.3		NA																	0				lung(2)|central_nervous_system(1)|skin(1)	4						c.(3469-3471)GGG>GTG		cyclin G associated kinase							38.0	43.0	41.0					4																	845576		2203	4297	6500	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:845576C>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3470G>T	4.37:g.845576C>A	ENSP00000314499:p.Gly1157Val					GAK_uc003gbn.3_Missense_Mutation_p.G1078V|GAK_uc003gbk.3_5'UTR|GAK_uc010ibi.2_Missense_Mutation_p.G382V|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.G1010V	p.G1157V	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	25	3669	-			1157					Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.3470G>T	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.020956|4.020956	0.75275|0.75275	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000511980	T;T|T	0.21932|0.23147	1.98;1.98|1.92	5.21|5.21	5.21|5.21	0.72293|0.72293	Heat shock protein DnaJ, N-terminal (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.45716|0.45716	0.1356|0.1356	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;0.999;0.999|.	D;D;D;D|.	0.97110|.	0.98;1.0;0.99;0.98|.	T|T	0.42103|0.42103	-0.9471|-0.9471	10|8	0.72032|0.66056	D|D	0.01|0.02	-42.9297|-42.9297	16.2329|16.2329	0.82357|0.82357	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1059;1078;1157;1042|.	B4DS37;E9PGR2;O14976;Q59HA5|.	.;.;GAK_HUMAN;.|.	V|W	433;1157;1078|313	ENSP00000314499:G1157V;ENSP00000421361:G1078V|ENSP00000421049:G313W	ENSP00000314499:G1157V|ENSP00000421049:G313W	G|G	-|-	2|1	0|0	GAK|GAK	835576|835576	1.000000|1.000000	0.71417|0.71417	0.914000|0.914000	0.36105|0.36105	0.579000|0.579000	0.36224|0.36224	6.090000|6.090000	0.71397|0.71397	2.421000|2.421000	0.82119|0.82119	0.561000|0.561000	0.74099|0.74099	GGG|GGG		0.647	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		28	23	1	0	8.58e-18	1.14e-17	28	23				
TEC	7006	broad.mit.edu	37	4	48152891	48152891	+	Silent	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:48152891G>C	ENST00000381501.3	-	10	1018	c.861C>G	c.(859-861)acC>acG	p.T287T	TEC_ENST00000511471.2_5'UTR|Y_RNA_ENST00000365144.1_RNA	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	287	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTCCAAACTTGGTATAAAGGG	0.313																																						uc003gxz.2		NA																	0				lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						c.(859-861)ACC>ACG		tec protein tyrosine kinase							87.0	97.0	93.0					4																	48152891		2203	4300	6503	SO:0001819	synonymous_variant	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48152891G>C	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.861C>G	4.37:g.48152891G>C							p.T287T	NM_003215	NP_003206	P42680	TEC_HUMAN			10	952	-			287			SH2.		B7ZKZ6|Q3MIS5	Silent	SNP	ENST00000381501.3	37	c.861C>G	CCDS3481.1																																																																																				0.313	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			27	126	0	0	0	0	27	126				
FRYL	285527	broad.mit.edu	37	4	48512142	48512142	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:48512142C>G	ENST00000503238.1	-	56	8327	c.8328G>C	c.(8326-8328)aaG>aaC	p.K2776N	FRYL_ENST00000537810.1_Missense_Mutation_p.K2776N|FRYL_ENST00000358350.4_Missense_Mutation_p.K2776N|FRYL_ENST00000507873.2_Missense_Mutation_p.K172N|FRYL_ENST00000264319.7_Missense_Mutation_p.K172N			O94915	FRYL_HUMAN	FRY-like	2776					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAACACCAAACTTGAGTGTTT	0.408																																						uc003gyh.1		NA																	0				skin(1)	1						c.(8326-8328)AAG>AAC		furry-like							84.0	82.0	83.0					4																	48512142		1873	4123	5996	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48512142C>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8328G>C	4.37:g.48512142C>G	ENSP00000426064:p.Lys2776Asn					FRYL_uc003gyf.1_Missense_Mutation_p.K172N|FRYL_uc003gyg.1_Missense_Mutation_p.K1472N	p.K2776N	NM_015030	NP_055845	O94915	FRYL_HUMAN			59	8933	-			2776					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.8328G>C	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492679	0.64074	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.35973	1.28;1.28;1.28	5.93	5.93	0.95920	.	0.000000	0.85682	U	0.000000	T	0.62962	0.2471	M	0.83118	2.625	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.66720	-0.5852	10	0.87932	D	0	.	13.5278	0.61605	0.0:0.929:0.0:0.0709	.	2776;2776;172	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	N	2776;2776;2776;172;172	ENSP00000426064:K2776N;ENSP00000351113:K2776N;ENSP00000441114:K2776N	ENSP00000264319:K172N	K	-	3	2	FRYL	48206899	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	3.044000	0.49830	2.803000	0.96430	0.585000	0.79938	AAG		0.408	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			19	62	0	0	0	0	19	62				
LRRC66	339977	broad.mit.edu	37	4	52861265	52861265	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:52861265G>A	ENST00000343457.3	-	4	1929	c.1923C>T	c.(1921-1923)tcC>tcT	p.S641S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	641						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						CCCTTGCCCCGGACAGCCTTG	0.527																																						uc003gzi.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1921-1923)TCC>TCT		leucine rich repeat containing 66							70.0	69.0	69.0					4																	52861265		2000	4175	6175	SO:0001819	synonymous_variant	339977					integral to membrane		g.chr4:52861265G>A	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.1923C>T	4.37:g.52861265G>A							p.S641S	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	1936	-			641						Silent	SNP	ENST00000343457.3	37	c.1923C>T	CCDS43229.1																																																																																				0.527	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		3	44	0	0	0	0	3	44				
UGT2B15	7366	broad.mit.edu	37	4	69519769	69519769	+	Silent	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:69519769G>T	ENST00000338206.5	-	5	1308	c.1299C>A	c.(1297-1299)gtC>gtA	p.V433V		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	433					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	GGTCATTAATGACTGACTTCA	0.383																																						uc011cal.1		NA																	0					0						c.(1297-1299)GTC>GTA		UDP glycosyltransferase 2B15 precursor							186.0	170.0	175.0					4																	69519769		2203	4296	6499	SO:0001819	synonymous_variant	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69519769G>T	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1299C>A	4.37:g.69519769G>T							p.V433V	NM_001076	NP_001067	P54855	UDB15_HUMAN			5	1337	-			433					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Silent	SNP	ENST00000338206.5	37	c.1299C>A	CCDS3524.1																																																																																				0.383	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		5	107	1	0	2.01e-06	2.28e-06	5	107				
UGT2B11	10720	broad.mit.edu	37	4	70080094	70080094	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:70080094A>C	ENST00000446444.1	-	1	355	c.347T>G	c.(346-348)cTg>cGg	p.L116R	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	116					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TAATTCCCACAGGATTTCTTG	0.294																																						uc003heh.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(346-348)CTG>CGG		UDP glucuronosyltransferase 2 family,							30.0	36.0	34.0					4																	70080094		2152	4272	6424	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70080094A>C	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.347T>G	4.37:g.70080094A>C	ENSP00000387683:p.Leu116Arg					uc003hei.1_Intron	p.L116R	NM_001073	NP_001064	O75310	UDB11_HUMAN			1	356	-			116					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.347T>G	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	2.784	-0.252822	0.05829	.	.	ENSG00000213759	ENST00000446444	T	0.65364	-0.15	1.96	0.458	0.16670	.	0.876096	0.09425	U	0.803810	T	0.63604	0.2525	M	0.86502	2.82	0.09310	N	1	B	0.21309	0.054	B	0.24848	0.056	T	0.56396	-0.7986	10	0.41790	T	0.15	.	5.4452	0.16531	0.8306:0.0:0.1694:0.0	.	116	O75310	UDB11_HUMAN	R	116	ENSP00000387683:L116R	ENSP00000387683:L116R	L	-	2	0	UGT2B11	70114683	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.045000	0.14013	-0.010000	0.14271	0.155000	0.16302	CTG		0.294	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		17	52	0	0	0	0	17	52				
SMR3A	26952	broad.mit.edu	37	4	71232543	71232543	+	Silent	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:71232543C>A	ENST00000226460.4	+	3	333	c.237C>A	c.(235-237)tcC>tcA	p.S79S		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	79	Poly-Pro.|Pro-rich.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCCCACCATCCCCTCCTCCAC	0.552																																						uc003hfg.1		NA																	0					0						c.(235-237)TCC>TCA		submaxillary gland androgen regulated protein 3							175.0	156.0	163.0					4																	71232543		2203	4300	6503	SO:0001819	synonymous_variant	26952					extracellular region		g.chr4:71232543C>A	D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.237C>A	4.37:g.71232543C>A						SMR3B_uc011cas.1_Intron	p.S79S	NM_012390	NP_036522	Q99954	SMR3A_HUMAN			3	318	+		all_hematologic(202;0.196)	79			Pro-rich.|Poly-Pro.			Silent	SNP	ENST00000226460.4	37	c.237C>A	CCDS34000.1																																																																																				0.552	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362574.1	NM_012390		42	68	1	0	8.68e-10	1.05e-09	42	68				
COL25A1	84570	broad.mit.edu	37	4	109738585	109738585	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:109738585C>T	ENST00000399132.1	-	37	2460	c.1930G>A	c.(1930-1932)Gat>Aat	p.D644N		NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGTAAGCCATCTGGCCCCTGT	0.388																																						uc003hze.1		NA																	0				ovary(2)	2						c.(1930-1932)GAT>AAT		collagen, type XXV, alpha 1 isoform 1							84.0	78.0	80.0					4																	109738585		1828	4076	5904	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109738585C>T	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1930G>A	4.37:g.109738585C>T	ENSP00000382083:p.Asp644Asn					COL25A1_uc003hzd.2_RNA	p.D644N	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	36	2461	-		Hepatocellular(203;0.217)	644			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000399132.1	37	c.1930G>A	CCDS43258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.12|17.12	3.307357|3.307357	0.60305|0.60305	.|.	.|.	ENSG00000188517|ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873|ENST00000512961	D|.	0.93547|.	-3.24|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.104529|.	0.64402|.	D|.	0.000004|.	T|T	0.67363|0.67363	0.2885|0.2885	L|L	0.41492|0.41492	1.28|1.28	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.83275|.	0.996|.	T|T	0.62286|0.62286	-0.6886|-0.6886	9|5	.|.	.|.	.|.	-13.3057|-13.3057	19.4988|19.4988	0.95085|0.95085	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	644|.	Q9BXS0|.	COPA1_HUMAN|.	N|K	644;646;573|18	ENSP00000382083:D644N|.	.|.	D|R	-|-	1|2	0|0	COL25A1|COL25A1	109958034|109958034	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.983000|0.983000	0.72400|0.72400	7.336000|7.336000	0.79245|0.79245	2.609000|2.609000	0.88269|0.88269	0.563000|0.563000	0.77884|0.77884	GAT|AGA		0.388	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		18	35	0	0	0	0	18	35				
ANK2	287	broad.mit.edu	37	4	114274404	114274404	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:114274404G>C	ENST00000357077.4	+	38	4683	c.4630G>C	c.(4630-4632)Gag>Cag	p.E1544Q	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E1511Q|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1544					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCTGAGGAAGAGCCAGGAGA	0.433																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(4630-4632)GAG>CAG		ankyrin 2 isoform 1							54.0	56.0	55.0					4																	114274404		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114274404G>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4630G>C	4.37:g.114274404G>C	ENSP00000349588:p.Glu1544Gln					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.E1559Q	p.E1544Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	4730	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1511					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.4630G>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417687	0.83449	.	.	ENSG00000145362	ENST00000503423;ENST00000504454;ENST00000357077;ENST00000264366	T;T;T;T	0.71461	-0.19;-0.33;-0.57;-0.56	5.62	5.62	0.85841	.	0.000000	0.56097	D	0.000037	D	0.82554	0.5062	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.69824	0.897;0.966	T	0.80765	-0.1236	10	0.40728	T	0.16	.	19.662	0.95877	0.0:0.0:1.0:0.0	.	1511;1544	Q01484;Q01484-4	ANK2_HUMAN;.	Q	1457;1559;1544;1511	ENSP00000421011:E1457Q;ENSP00000424722:E1559Q;ENSP00000349588:E1544Q;ENSP00000264366:E1511Q	ENSP00000264366:E1511Q	E	+	1	0	ANK2	114493853	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.795000	0.85887	2.649000	0.89929	0.650000	0.86243	GAG		0.433	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		13	47	0	0	0	0	13	47				
CCNA2	890	broad.mit.edu	37	4	122744744	122744744	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:122744744C>T	ENST00000274026.5	-	1	343	c.40G>A	c.(40-42)Gcg>Acg	p.A14T		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	14					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						GCCGAGCCCGCCTCGCGGGTC	0.687																																						uc003iec.3		NA																	0				ovary(1)	1						c.(40-42)GCG>ACG		cyclin A							8.0	11.0	10.0					4																	122744744		2089	4224	6313	SO:0001583	missense	890				cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding	g.chr4:122744744C>T		CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.40G>A	4.37:g.122744744C>T	ENSP00000274026:p.Ala14Thr						p.A14T	NM_001237	NP_001228	P20248	CCNA2_HUMAN			1	345	-			14					A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	ENST00000274026.5	37	c.40G>A	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682603	0.68157	.	.	ENSG00000145386	ENST00000274026	T	0.15834	2.39	5.13	4.29	0.51040	.	0.566446	0.17404	N	0.175442	T	0.15089	0.0364	L	0.47716	1.5	0.35133	D	0.768108	B	0.06786	0.001	B	0.06405	0.002	T	0.12734	-1.0536	10	0.13853	T	0.58	.	11.7083	0.51610	0.0:0.9134:0.0:0.0866	.	14	P20248	CCNA2_HUMAN	T	14	ENSP00000274026:A14T	ENSP00000274026:A14T	A	-	1	0	CCNA2	122964194	0.998000	0.40836	0.999000	0.59377	0.141000	0.21300	1.253000	0.32886	1.293000	0.44690	0.655000	0.94253	GCG		0.687	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237		3	4	0	0	0	0	3	4				
INPP4B	8821	broad.mit.edu	37	4	143045799	143045799	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:143045799T>G	ENST00000513000.1	-	20	2268	c.1835A>C	c.(1834-1836)tAc>tCc	p.Y612S	INPP4B_ENST00000508116.1_Missense_Mutation_p.Y612S|INPP4B_ENST00000308502.4_Missense_Mutation_p.Y612S|INPP4B_ENST00000262992.4_Missense_Mutation_p.Y612S|INPP4B_ENST00000509777.1_Missense_Mutation_p.Y612S	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	612					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GGGCAAGCTGTACGCAAGTTC	0.502																																						uc003iix.3		NA																	0				ovary(1)|lung(1)	2						c.(1834-1836)TAC>TCC		inositol polyphosphate-4-phosphatase, type II,							119.0	97.0	105.0					4																	143045799		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143045799T>G	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1835A>C	4.37:g.143045799T>G	ENSP00000425487:p.Tyr612Ser					INPP4B_uc003iiw.3_Missense_Mutation_p.Y612S|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.Y427S|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.Y483S	p.Y612S	NM_003866	NP_003857	O15327	INP4B_HUMAN			20	2430	-	all_hematologic(180;0.158)		612					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.1835A>C	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.939091	0.34189	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.91	2.22	0.28083	.	0.217865	0.48286	D	0.000187	T	0.10465	0.0256	N	0.03608	-0.345	0.32262	N	0.569953	B;B	0.19200	0.034;0.024	B;B	0.21708	0.036;0.03	T	0.13629	-1.0502	10	0.17832	T	0.49	.	3.0749	0.06243	0.0:0.369:0.2479:0.3831	.	483;612	B7Z6T2;O15327	.;INP4B_HUMAN	S	612;612;612;483;612;612;427;427;612;483	ENSP00000425487:Y612S;ENSP00000262992:Y612S;ENSP00000308441:Y612S;ENSP00000423954:Y612S;ENSP00000422793:Y612S;ENSP00000426207:Y427S;ENSP00000427250:Y612S;ENSP00000421065:Y483S	ENSP00000262992:Y612S	Y	-	2	0	INPP4B	143265249	1.000000	0.71417	0.860000	0.33809	0.986000	0.74619	3.071000	0.50041	0.481000	0.27557	0.533000	0.62120	TAC		0.502	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		15	34	0	0	0	0	15	34				
POU4F2	5458	broad.mit.edu	37	4	147561662	147561662	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:147561662A>G	ENST00000281321.3	+	2	1180	c.932A>G	c.(931-933)aAt>aGt	p.N311S	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	311	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TCCCACAATAATATGATCGCG	0.607																																						uc003ikv.2		NA																	0				breast(1)	1						c.(931-933)AAT>AGT		Brn3b POU domain transcription factor							76.0	79.0	78.0					4																	147561662		2203	4300	6503	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561662A>G	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.932A>G	4.37:g.147561662A>G	ENSP00000281321:p.Asn311Ser						p.N311S	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			2	1180	+	all_hematologic(180;0.151)		311			POU-specific.		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.932A>G	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	A	18.59	3.656524	0.67586	.	.	ENSG00000151615	ENST00000281321	D	0.85411	-1.98	5.37	5.37	0.77165	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.91603	0.7347	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92605	0.6094	10	0.87932	D	0	.	15.3779	0.74625	1.0:0.0:0.0:0.0	.	311	Q12837	PO4F2_HUMAN	S	311	ENSP00000281321:N311S	ENSP00000281321:N311S	N	+	2	0	POU4F2	147781112	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.313000	0.96297	2.045000	0.60652	0.459000	0.35465	AAT		0.607	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		6	21	0	0	0	0	6	21				
MAB21L2	10586	broad.mit.edu	37	4	151504404	151504404	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:151504404G>A	ENST00000317605.4	+	1	1328	c.223G>A	c.(223-225)Gag>Aag	p.E75K	LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000507224.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	75					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CACCGAATTTGAGGTGGTGCT	0.607																																						uc003ilw.2		NA																	0				ovary(1)	1						c.(223-225)GAG>AAG		mab-21-like protein 2							77.0	69.0	72.0					4																	151504404		2203	4300	6503	SO:0001583	missense	10586				nervous system development	nucleus		g.chr4:151504404G>A	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.223G>A	4.37:g.151504404G>A	ENSP00000324701:p.Glu75Lys					LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	p.E75K	NM_006439	NP_006430	Q9Y586	MB212_HUMAN		GBM - Glioblastoma multiforme(119;0.159)	1	1328	+	all_hematologic(180;0.151)		75					B3KP37|Q9HBA7	Missense_Mutation	SNP	ENST00000317605.4	37	c.223G>A	CCDS3774.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496507	0.85069	.	.	ENSG00000181541	ENST00000317605	T	0.08370	3.1	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	M	0.83852	2.665	0.80722	D	1	P	0.51653	0.947	D	0.63703	0.917	T	0.01570	-1.1322	10	0.59425	D	0.04	-22.2174	20.2985	0.98592	0.0:0.0:1.0:0.0	.	75	Q9Y586	MB212_HUMAN	K	75	ENSP00000324701:E75K	ENSP00000324701:E75K	E	+	1	0	MAB21L2	151723854	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	GAG		0.607	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		9	19	0	0	0	0	9	19				
DCHS2	54798	broad.mit.edu	37	4	155253699	155253699	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:155253699C>A	ENST00000357232.4	-	9	2163	c.2164G>T	c.(2164-2166)Gga>Tga	p.G722*	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Nonsense_Mutation_p.G1221*	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	722	Cadherin 6. {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(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCATTCTTTCCAGAGTCCATG	0.398																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(2164-2166)GGA>TGA		dachsous 2 isoform 1							111.0	120.0	117.0					4																	155253699		2203	4300	6503	SO:0001587	stop_gained	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155253699C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2164G>T	4.37:g.155253699C>A	ENSP00000349768:p.Gly722*					DCHS2_uc003inx.2_Nonsense_Mutation_p.G1221*	p.G722*	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	2164	-	all_hematologic(180;0.208)	Renal(120;0.0854)	722			Cadherin 6.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Nonsense_Mutation	SNP	ENST00000357232.4	37	c.2164G>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	43	10.380981	0.99394	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	.	.	.	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.6777	0.91534	0.0:1.0:0.0:0.0	.	.	.	.	X	722;1221;1221	.	ENSP00000345062:G1221X	G	-	1	0	DCHS2	155473149	0.999000	0.42202	0.979000	0.43373	0.643000	0.38383	4.375000	0.59549	2.462000	0.83206	0.591000	0.81541	GGA		0.398	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		11	57	1	0	1.09e-07	1.27e-07	11	57				
GUCY1B3	2983	broad.mit.edu	37	4	156717623	156717623	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:156717623T>A	ENST00000264424.8	+	8	1020	c.938T>A	c.(937-939)tTa>tAa	p.L313*	GUCY1B3_ENST00000505764.1_Nonsense_Mutation_p.L293*|GUCY1B3_ENST00000507146.1_Nonsense_Mutation_p.L245*|GUCY1B3_ENST00000503520.1_Nonsense_Mutation_p.L313*|GUCY1B3_ENST00000513437.1_Nonsense_Mutation_p.L245*|GUCY1B3_ENST00000502959.1_Nonsense_Mutation_p.L335*|GUCY1B3_ENST00000505154.1_Nonsense_Mutation_p.L245*	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	313					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		ATGATCTACTTACCTGAAGCA	0.373																																						uc003ipc.2		NA																	0					0						c.(937-939)TTA>TAA		guanylate cyclase 1, soluble, beta 3							184.0	174.0	177.0					4																	156717623		1927	4140	6067	SO:0001587	stop_gained	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156717623T>A	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.938T>A	4.37:g.156717623T>A	ENSP00000264424:p.Leu313*					GUCY1B3_uc011cio.1_Nonsense_Mutation_p.L335*|GUCY1B3_uc011cip.1_Nonsense_Mutation_p.L293*|GUCY1B3_uc003ipd.2_Nonsense_Mutation_p.L241*|GUCY1B3_uc010iqf.2_Nonsense_Mutation_p.L313*|GUCY1B3_uc010iqg.2_Nonsense_Mutation_p.L241*|GUCY1B3_uc011ciq.1_Nonsense_Mutation_p.L241*	p.L313*	NM_000857	NP_000848	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	8	1105	+	all_hematologic(180;0.24)	Renal(120;0.0854)	313					B7Z426|Q86WY5	Nonsense_Mutation	SNP	ENST00000264424.8	37	c.938T>A	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	T	37	6.387677	0.97524	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	.	.	.	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5683	0.76313	0.0:0.0:0.0:1.0	.	.	.	.	X	245;335;293;245;313;313;245	.	ENSP00000264424:L313X	L	+	2	0	GUCY1B3	156937073	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.566000	0.82347	2.143000	0.66587	0.533000	0.62120	TTA		0.373	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2			11	25	0	0	0	0	11	25				
DDX60	55601	broad.mit.edu	37	4	169138107	169138107	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:169138107A>C	ENST00000393743.3	-	38	5407	c.5116T>G	c.(5116-5118)Tgg>Ggg	p.W1706G		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1706					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AACTTTTCCCAAAAAGTTGTA	0.338																																						uc003irp.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(5116-5118)TGG>GGG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							121.0	118.0	119.0					4																	169138107		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169138107A>C	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.5116T>G	4.37:g.169138107A>C	ENSP00000377344:p.Trp1706Gly					DDX60_uc003iro.2_3'UTR	p.W1706G	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	38	5408	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1706					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.5116T>G	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	A	7.296	0.612058	0.14066	.	.	ENSG00000137628	ENST00000393743	T	0.16457	2.34	5.26	-10.5	0.00291	.	4.367920	0.00166	N	0.000006	T	0.07683	0.0193	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.14023	0.01	T	0.22906	-1.0203	10	0.27082	T	0.32	.	0.8461	0.01161	0.2393:0.179:0.1517:0.4299	.	1706	Q8IY21	DDX60_HUMAN	G	1706	ENSP00000377344:W1706G	ENSP00000377344:W1706G	W	-	1	0	DDX60	169374682	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.953000	0.00676	-1.508000	0.01800	-0.472000	0.04984	TGG		0.338	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		16	34	0	0	0	0	16	34				
DDX60L	91351	broad.mit.edu	37	4	169369891	169369891	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:169369891C>A	ENST00000511577.1	-	9	1283	c.1036G>T	c.(1036-1038)Gtt>Ttt	p.V346F	DDX60L_ENST00000260184.7_Missense_Mutation_p.V346F|DDX60L_ENST00000505890.1_Missense_Mutation_p.V346F			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	346							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CATCCAAAAACGTTTAAGTTG	0.303																																						uc003irq.3		NA																	0				ovary(1)	1						c.(1036-1038)GTT>TTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							54.0	49.0	51.0					4																	169369891		1813	4068	5881	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169369891C>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.1036G>T	4.37:g.169369891C>A	ENSP00000422423:p.Val346Phe					DDX60L_uc003irr.1_Missense_Mutation_p.V346F|DDX60L_uc003irs.1_Missense_Mutation_p.V73F	p.V346F	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	9	1257	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	346					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.1036G>T		.	.	.	.	.	.	.	.	.	.	C	0.001	-2.905359	0.00057	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.17691	2.26;2.26;2.26;2.94	2.46	-4.93	0.03066	.	2.815340	0.02431	U	0.083587	T	0.09024	0.0223	N	0.14661	0.345	0.09310	N	1	B;B;B	0.17852	0.023;0.024;0.023	B;B;B	0.12156	0.007;0.007;0.007	T	0.24693	-1.0153	10	0.18276	T	0.48	.	6.3293	0.21260	0.0:0.5318:0.1516:0.3165	.	346;346;346	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	F	346;346;346;74	ENSP00000260184:V346F;ENSP00000422423:V346F;ENSP00000422202:V346F;ENSP00000421026:V74F	ENSP00000260184:V346F	V	-	1	0	DDX60L	169606466	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.189000	0.17037	-1.914000	0.01078	-0.444000	0.05651	GTT		0.303	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		9	24	1	0	1.59e-06	1.8e-06	9	24				
FAT1	2195	broad.mit.edu	37	4	187534263	187534263	+	Splice_Site	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:187534263C>T	ENST00000441802.2	-	13	9672	c.9463G>A	c.(9463-9465)Gga>Aga	p.G3155R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3155	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGGGAGATACCTGCGTCGGCA	0.567										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(9463-9465)GGA>AGA		FAT tumor suppressor 1 precursor							56.0	61.0	60.0					4																	187534263		2061	4205	6266	SO:0001630	splice_region_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187534263C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9463+1G>A	4.37:g.187534263C>T		HNSCC(5;0.00058)					p.G3155R	NM_005245	NP_005236	Q14517	FAT1_HUMAN			13	9651	-			3155			Extracellular (Potential).|Cadherin 29.			Missense_Mutation	SNP	ENST00000441802.2	37	c.9463G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562506	0.65538	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.27890	1.64	5.05	5.05	0.67936	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.54127	0.1839	H	0.94658	3.565	0.80722	D	1	B	0.32467	0.372	B	0.39094	0.29	T	0.63233	-0.6683	9	.	.	.	.	18.6084	0.91275	0.0:1.0:0.0:0.0	.	3155	Q14517	FAT1_HUMAN	R	3155;3157	ENSP00000406229:G3155R	.	G	-	1	0	FAT1	187771257	1.000000	0.71417	0.986000	0.45419	0.022000	0.10575	7.651000	0.83577	2.636000	0.89361	0.655000	0.94253	GGA		0.567	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	Missense_Mutation	4	11	0	0	0	0	4	11				
TRIML1	339976	broad.mit.edu	37	4	189060960	189060960	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:189060960C>A	ENST00000332517.3	+	1	388	c.248C>A	c.(247-249)tCc>tAc	p.S83Y	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	83					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CAGCTCCGGTCCCAGGTGCTG	0.637																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1		NA																	0				ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(247-249)TCC>TAC		tripartite motif family-like 1							46.0	47.0	47.0					4																	189060960		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060960C>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.248C>A	4.37:g.189060960C>A	ENSP00000327738:p.Ser83Tyr						p.S83Y	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	363	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	83					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.248C>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386199	0.25031	.	.	ENSG00000184108	ENST00000332517	D	0.84944	-1.92	5.59	1.87	0.25490	.	0.548934	0.16865	N	0.196375	T	0.79305	0.4423	L	0.51422	1.61	0.09310	N	1	B	0.30406	0.278	B	0.34385	0.181	T	0.66567	-0.5891	10	0.38643	T	0.18	-4.9369	6.1766	0.20447	0.0:0.5504:0.2885:0.1611	.	83	Q8N9V2	TRIML_HUMAN	Y	83	ENSP00000327738:S83Y	ENSP00000327738:S83Y	S	+	2	0	TRIML1	189297954	0.000000	0.05858	0.032000	0.17829	0.002000	0.02628	-0.797000	0.04570	0.095000	0.17434	0.655000	0.94253	TCC		0.637	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		7	26	1	0	0.000157383	0.000169877	7	26				
ADAMTS16	170690	broad.mit.edu	37	5	5146383	5146383	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:5146383C>A	ENST00000274181.7	+	3	454	c.316C>A	c.(316-318)Cac>Aac	p.H106N	CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.H106N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	106					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGGCTCCAGGCACGACTTCCA	0.542																																						uc003jdl.2		NA																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(316-318)CAC>AAC		ADAM metallopeptidase with thrombospondin type 1							74.0	76.0	75.0					5																	5146383		2000	4172	6172	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5146383C>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.316C>A	5.37:g.5146383C>A	ENSP00000274181:p.His106Asn					ADAMTS16_uc003jdk.1_Missense_Mutation_p.H106N|ADAMTS16_uc003jdj.1_Missense_Mutation_p.H106N	p.H106N	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			3	454	+			106					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.316C>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134110	0.37630	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.05717	3.4;3.4	5.55	5.55	0.83447	Peptidase M12B, propeptide (1);	0.072854	0.56097	D	0.000022	T	0.12475	0.0303	M	0.69185	2.1	0.41372	D	0.987495	B;B;B	0.33777	0.425;0.336;0.029	B;B;B	0.35278	0.131;0.199;0.087	T	0.01409	-1.1362	10	0.52906	T	0.07	.	18.6279	0.91347	0.0:1.0:0.0:0.0	.	106;106;106	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	N	106	ENSP00000274181:H106N;ENSP00000421631:H106N	ENSP00000274181:H106N	H	+	1	0	ADAMTS16	5199383	1.000000	0.71417	0.350000	0.25708	0.422000	0.31414	6.004000	0.70709	2.767000	0.95098	0.563000	0.77884	CAC		0.542	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		54	28	1	0	4.74e-44	6.71e-44	54	28				
ADCY2	108	broad.mit.edu	37	5	7698397	7698397	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:7698397G>A	ENST00000338316.4	+	7	1108	c.1019G>A	c.(1018-1020)tGc>tAc	p.C340Y	ADCY2_ENST00000537121.1_Missense_Mutation_p.C160Y	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	340					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTAGGAGACTGCTACTACTGT	0.393																																						uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(1018-1020)TGC>TAC		adenylate cyclase 2							158.0	163.0	161.0					5																	7698397		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7698397G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1019G>A	5.37:g.7698397G>A	ENSP00000342952:p.Cys340Tyr					ADCY2_uc011cmo.1_Missense_Mutation_p.C160Y	p.C340Y	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			7	1086	+			340			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1019G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791981	0.90453	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	D;D	0.84800	-1.9;-1.9	5.8	5.8	0.92144	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.95376	0.8499	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.96191	0.9138	10	0.87932	D	0	.	20.0545	0.97645	0.0:0.0:1.0:0.0	.	160;340	B7Z2C1;Q08462	.;ADCY2_HUMAN	Y	340;191;160	ENSP00000342952:C340Y;ENSP00000444803:C160Y	ENSP00000342952:C340Y	C	+	2	0	ADCY2	7751397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.470000	0.97683	2.748000	0.94277	0.655000	0.94253	TGC		0.393	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		39	162	0	0	0	0	39	162				
CTNND2	1501	broad.mit.edu	37	5	11411728	11411728	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:11411728C>G	ENST00000304623.8	-	5	548	c.359G>C	c.(358-360)gGt>gCt	p.G120A	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.G120A|CTNND2_ENST00000503622.1_Missense_Mutation_p.G29A|CTNND2_ENST00000511377.1_Missense_Mutation_p.G29A	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	120					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CAGCTCGAGACCTGTTGTAAG	0.368																																						uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(358-360)GGT>GCT		catenin (cadherin-associated protein), delta 2							116.0	108.0	111.0					5																	11411728		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11411728C>G	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.359G>C	5.37:g.11411728C>G	ENSP00000307134:p.Gly120Ala					CTNND2_uc010itt.2_Missense_Mutation_p.G29A|CTNND2_uc011cmy.1_Missense_Mutation_p.G29A|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	p.G120A	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			5	504	-			120					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.359G>C	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466488	0.63625	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551;ENST00000513598;ENST00000508761	T;T;T;D	0.91740	-1.07;-1.15;-1.17;-2.9	5.86	5.86	0.93980	Armadillo-like helical (1);	0.129265	0.51477	D	0.000097	D	0.94361	0.8187	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.981;0.991	D	0.92040	0.5640	10	0.25751	T	0.34	-12.1014	20.1951	0.98241	0.0:1.0:0.0:0.0	.	29;120	B4DRK2;Q9UQB3	.;CTND2_HUMAN	A	120;120;29;29;106;29;106	ENSP00000307134:G120A;ENSP00000352661:G120A;ENSP00000426510:G29A;ENSP00000426887:G29A	ENSP00000307134:G120A	G	-	2	0	CTNND2	11464728	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.431000	0.80335	2.780000	0.95670	0.585000	0.79938	GGT		0.368	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		51	29	0	0	0	0	51	29				
DNAH5	1767	broad.mit.edu	37	5	13900483	13900483	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:13900483C>T	ENST00000265104.4	-	15	2195	c.2091G>A	c.(2089-2091)ttG>ttA	p.L697L	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	697	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAGCCTTCACCAATAATGAAG	0.408									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(2089-2091)TTG>TTA		dynein, axonemal, heavy chain 5							65.0	67.0	66.0					5																	13900483		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13900483C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2091G>A	5.37:g.13900483C>T							p.L697L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			15	2133	-	Lung NSC(4;0.00476)		697			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.2091G>A	CCDS3882.1																																																																																				0.408	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		7	60	0	0	0	0	7	60				
RASA1	5921	broad.mit.edu	37	5	86675667	86675667	+	Splice_Site	SNP	C	C	T	rs138785106		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:86675667C>T	ENST00000274376.6	+	19	3167	c.2603C>T	c.(2602-2604)cCg>cTg	p.P868L	RASA1_ENST00000512763.1_Splice_Site_p.P701L|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000456692.2_Splice_Site_p.P691L|RASA1_ENST00000506290.1_Splice_Site_p.P702L	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	868	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ATACTTCCACCGTAAGTGGTG	0.303													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17454	0.0		0.0	False		,,,				2504	0.0					uc003kiw.2		NA																	0				upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(2602-2604)CCG>CTG		RAS p21 protein activator 1 isoform 1							60.0	60.0	60.0					5																	86675667		2201	4296	6497	SO:0001630	splice_region_variant	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86675667C>T		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2603+1C>T	5.37:g.86675667C>T						RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.P691L|RASA1_uc011ctv.1_Missense_Mutation_p.P701L|RASA1_uc011ctw.1_Missense_Mutation_p.P702L|RASA1_uc010jaw.2_Missense_Mutation_p.P690L	p.P868L	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	19	2721	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	868			Ras-GAP.		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.2603C>T	CCDS34200.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.09	2.431112	0.43122	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	4.98	4.98	0.66077	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.104735	0.64402	D	0.000003	T	0.11239	0.0274	L	0.31664	0.95	0.80722	D	1	P;D;P;P;P	0.56521	0.91;0.976;0.91;0.889;0.91	B;B;B;B;B	0.30855	0.121;0.121;0.121;0.074;0.121	T	0.14172	-1.0482	10	0.32370	T	0.25	.	18.6267	0.91342	0.0:1.0:0.0:0.0	.	702;701;702;691;868	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	L	868;691;701;702	ENSP00000274376:P868L;ENSP00000411221:P691L;ENSP00000422008:P701L;ENSP00000420905:P702L	ENSP00000274376:P868L	P	+	2	0	RASA1	86711423	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.000000	0.70678	2.470000	0.83445	0.655000	0.94253	CCG		0.303	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890	Missense_Mutation	9	13	0	0	0	0	9	13				
PAM	5066	broad.mit.edu	37	5	102343267	102343267	+	Silent	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:102343267G>T	ENST00000438793.3	+	19	2591	c.2121G>T	c.(2119-2121)cgG>cgT	p.R707R	PAM_ENST00000274392.9_Silent_p.R610R|PAM_ENST00000379787.4_Silent_p.R87R|PAM_ENST00000346918.2_Silent_p.R707R|PAM_ENST00000348126.2_Silent_p.R600R|PAM_ENST00000304400.7_Silent_p.R707R|PAM_ENST00000455264.2_Silent_p.R707R	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	707	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	AAAATGGTCGGATCCAGTGTT	0.433																																						uc003knw.2		NA																	0					0						c.(2119-2121)CGG>CGT		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						117.0	117.0	117.0					5																	102343267		2203	4300	6503	SO:0001819	synonymous_variant	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102343267G>T	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.2121G>T	5.37:g.102343267G>T						PAM_uc003kns.2_Silent_p.R600R|PAM_uc003knt.2_Silent_p.R707R|PAM_uc003knu.2_Silent_p.R707R|PAM_uc003knv.2_Silent_p.R707R|PAM_uc011cuz.1_Silent_p.R610R|PAM_uc003knz.2_5'UTR	p.R707R	NM_000919	NP_000910	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	19	2494	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	707			Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).|NHL 4.|Intragranular (Potential).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Silent	SNP	ENST00000438793.3	37	c.2121G>T	CCDS54885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.511|4.511	0.094868|0.094868	0.08681|0.08681	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000379799|ENST00000504691	.|.	.|.	.|.	5.17|5.17	-0.287|-0.287	0.12858|0.12858	.|.	.|.	.|.	.|.	.|.	T|T	0.41994|0.41994	0.1183|0.1183	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.25916|0.25916	-1.0118|-1.0118	4|4	.|.	.|.	.|.	.|.	1.8189|1.8189	0.03106|0.03106	0.2999:0.2095:0.374:0.1166|0.2999:0.2095:0.374:0.1166	.|.	.|.	.|.	.|.	Y|V	480|2	.|.	.|.	D|G	+|+	1|2	0|0	PAM|PAM	102371166|102371166	0.934000|0.934000	0.31675|0.31675	0.998000|0.998000	0.56505|0.56505	0.484000|0.484000	0.33280|0.33280	0.027000|0.027000	0.13621|0.13621	0.054000|0.054000	0.16065|0.16065	-0.165000|-0.165000	0.13383|0.13383	GAT|GGA		0.433	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		21	56	1	0	4.35e-09	5.19e-09	21	56				
WDR36	134430	broad.mit.edu	37	5	110448824	110448824	+	Missense_Mutation	SNP	A	A	G	rs562223310		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:110448824A>G	ENST00000513710.2	+	16	1940	c.1936A>G	c.(1936-1938)Att>Gtt	p.I646V	WDR36_ENST00000506538.2_Missense_Mutation_p.I646V			Q8NI36	WDR36_HUMAN	WD repeat domain 36	646					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GGATTGCTCTATTAGGACTTG	0.289													A|||	1	0.000199681	0.0008	0.0	5008	,	,		9648	0.0		0.0	False		,,,				2504	0.0					uc003kpd.2		NA																	0				ovary(1)|skin(1)	2						c.(1936-1938)ATT>GTT		WD repeat domain 36							150.0	151.0	150.0					5																	110448824		2202	4300	6502	SO:0001583	missense	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110448824A>G	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1936A>G	5.37:g.110448824A>G	ENSP00000424628:p.Ile646Val					WDR36_uc010jbu.2_RNA	p.I646V	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	16	2053	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	646			WD 8.		A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	c.1936A>G	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	A	9.440	1.087927	0.20390	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.62105	0.05;0.05	6.06	-9.14	0.00701	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.194328	0.56097	N	0.000029	T	0.40570	0.1122	N	0.16903	0.455	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.06338	-1.0832	10	0.87932	D	0	-5.945	17.9341	0.89007	0.4286:0.0:0.5714:0.0	.	646	Q8NI36	WDR36_HUMAN	V	646	ENSP00000423067:I646V;ENSP00000424628:I646V	ENSP00000423067:I646V	I	+	1	0	WDR36	110476723	0.102000	0.21896	0.359000	0.25824	0.804000	0.45430	0.737000	0.26144	-1.830000	0.01199	-1.986000	0.00452	ATT		0.289	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		19	45	0	0	0	0	19	45				
DMXL1	1657	broad.mit.edu	37	5	118485227	118485227	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:118485227G>C	ENST00000311085.8	+	18	3785	c.3705G>C	c.(3703-3705)atG>atC	p.M1235I	DMXL1_ENST00000539542.1_Missense_Mutation_p.M1235I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1235										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACTGTGAAATGCATGTGTATT	0.433																																						uc003ksd.2		NA																	0				ovary(2)	2						c.(3703-3705)ATG>ATC		Dmx-like 1							117.0	113.0	114.0					5																	118485227		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118485227G>C	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3705G>C	5.37:g.118485227G>C	ENSP00000309690:p.Met1235Ile					DMXL1_uc010jcl.1_Missense_Mutation_p.M1235I	p.M1235I	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	18	3886	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1235			WD 10.			Missense_Mutation	SNP	ENST00000311085.8	37	c.3705G>C	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926973	0.73327	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.00995	5.46;5.46	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.06600	0.0169	M	0.83223	2.63	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.68192	0.956;0.934	T	0.10314	-1.0635	10	0.46703	T	0.11	-15.132	19.5134	0.95153	0.0:0.0:1.0:0.0	.	1235;1235	F5H269;Q9Y485	.;DMXL1_HUMAN	I	1235	ENSP00000309690:M1235I;ENSP00000439479:M1235I	ENSP00000309690:M1235I	M	+	3	0	DMXL1	118513126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.696000	0.92011	0.655000	0.94253	ATG		0.433	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		21	55	0	0	0	0	21	55				
ZNF608	57507	broad.mit.edu	37	5	123982854	123982855	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:123982854_123982855CC>AA	ENST00000306315.5	-	4	3657_3658	c.3222_3223GG>TT	c.(3220-3225)ctGGct>ctTTct	p.A1075S	ZNF608_ENST00000513985.1_5'Flank|ZNF608_ENST00000504926.1_Missense_Mutation_p.A648S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1075							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AGTGACTGAGCCAGGGCAGGAT	0.48																																						uc003ktq.1		NA																	0				skin(3)|ovary(2)|lung(1)	6						c.(3220-3225)CTGGCT>CTTTCT		zinc finger protein 608																																				SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123982854_123982855CC>AA	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3222_3223delinsAA	5.37:g.123982854_123982855delinsAA	ENSP00000307746:p.Ala1075Ser					ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.A1075S|ZNF608_uc003ktt.1_Missense_Mutation_p.A1075S|ZNF608_uc003ktp.1_5'Flank	p.A1075S	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	3345_3346	-		all_cancers(142;0.186)|Prostate(80;0.081)	1075					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	DNP	ENST00000306315.5	37	c.3222_3223GG>TT	CCDS34219.1																																																																																				0.480	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		10	31	0	0	0	0	10	31				
MATR3	9782	broad.mit.edu	37	5	138654693	138654693	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:138654693C>T	ENST00000394805.3	+	8	1740	c.1405C>T	c.(1405-1407)Cat>Tat	p.H469Y	MATR3_ENST00000503811.1_Missense_Mutation_p.H181Y|MATR3_ENST00000509990.1_Missense_Mutation_p.H469Y|MATR3_ENST00000502499.1_Missense_Mutation_p.H131Y|MATR3_ENST00000504203.1_Missense_Mutation_p.H131Y|MATR3_ENST00000361059.2_Missense_Mutation_p.H469Y|MATR3_ENST00000394800.2_Missense_Mutation_p.H469Y|MATR3_ENST00000502929.1_Missense_Mutation_p.H469Y|MATR3_ENST00000510056.1_Missense_Mutation_p.H469Y	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	469	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGTGAGAGTTCATTTATCCCA	0.348																																						uc003ldu.2		NA																	0				ovary(1)	1						c.(1405-1407)CAT>TAT		matrin 3							45.0	47.0	46.0					5																	138654693		2203	4300	6503	SO:0001583	missense	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138654693C>T	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.1405C>T	5.37:g.138654693C>T	ENSP00000378284:p.His469Tyr					MATR3_uc010jfb.2_Missense_Mutation_p.H469Y|MATR3_uc003ldt.2_Missense_Mutation_p.H131Y|MATR3_uc003ldw.2_Missense_Mutation_p.H469Y|MATR3_uc003ldx.2_Missense_Mutation_p.H469Y|MATR3_uc010jfc.2_Missense_Mutation_p.H469Y|MATR3_uc003ldy.2_Missense_Mutation_p.H146Y|MATR3_uc011czb.1_Missense_Mutation_p.H181Y|MATR3_uc003ldz.2_Missense_Mutation_p.H469Y|MATR3_uc003lea.2_Missense_Mutation_p.H469Y|MATR3_uc003leb.2_Missense_Mutation_p.H131Y|MATR3_uc003lec.2_Missense_Mutation_p.H146Y	p.H469Y	NM_199189	NP_954659	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		11	1832	+			469			RRM 1.		B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	c.1405C>T	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744995	0.30865	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000502499;ENST00000510056;ENST00000511249;ENST00000503811	T;T;T;T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.8	5.8	0.92144	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.221474	0.48767	N	0.000180	T	0.65770	0.2723	N	0.00621	-1.32	0.42148	D	0.991546	D;B;D;B;P;B	0.62365	0.991;0.025;0.991;0.025;0.86;0.025	D;B;D;B;P;B	0.76575	0.988;0.006;0.988;0.006;0.89;0.006	T	0.71984	-0.4427	10	0.20046	T	0.44	-14.0978	13.2751	0.60182	0.0:0.9279:0.0:0.0721	.	181;469;181;469;469;469	B7ZAV5;D6REM6;B4DRS1;Q68D11;A8MXP9;P43243	.;.;.;.;.;MATR3_HUMAN	Y	469;469;131;469;469;469;131;469;67;181	ENSP00000423533:H469Y;ENSP00000354346:H469Y;ENSP00000421218:H131Y;ENSP00000422319:H469Y;ENSP00000378279:H469Y;ENSP00000378284:H469Y;ENSP00000426030:H131Y;ENSP00000426743:H469Y;ENSP00000422649:H67Y;ENSP00000423587:H181Y	ENSP00000354346:H469Y	H	+	1	0	MATR3	138682592	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.782000	0.55401	2.748000	0.94277	0.655000	0.94253	CAT		0.348	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		9	23	0	0	0	0	9	23				
PCDHGA1	56114	broad.mit.edu	37	5	140712201	140712201	+	Silent	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:140712201C>A	ENST00000517417.1	+	1	1950	c.1950C>A	c.(1948-1950)ggC>ggA	p.G650G	PCDHGA1_ENST00000378105.3_Silent_p.G650G	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	650	Cadherin 6. {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)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACCACGGCCAGCCCCCGC	0.706																																						uc003lji.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(1948-1950)GGC>GGA		protocadherin gamma subfamily A, 1 isoform 1							32.0	41.0	38.0					5																	140712201		2194	4295	6489	SO:0001819	synonymous_variant	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140712201C>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1950C>A	5.37:g.140712201C>A						PCDHGA1_uc011dan.1_Silent_p.G650G	p.G650G	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1950	+			650			Extracellular (Potential).|Cadherin 6.		Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.1950C>A	CCDS54922.1																																																																																				0.706	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		16	27	1	0	2e-07	2.32e-07	16	27				
PCDHGB3	56102	broad.mit.edu	37	5	140751806	140751806	+	Silent	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:140751806G>T	ENST00000576222.1	+	1	1976	c.1845G>T	c.(1843-1845)ggG>ggT	p.G615G	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	615	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCCCGGGCTGTTCAGCC	0.687																																						uc003ljw.1		NA																	0					0						c.(1843-1845)GGG>GGT		protocadherin gamma subfamily B, 3 isoform 1							45.0	54.0	51.0					5																	140751806		2199	4292	6491	SO:0001819	synonymous_variant	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140751806G>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1845G>T	5.37:g.140751806G>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Silent_p.G615G|PCDHGA6_uc011dau.1_5'Flank	p.G615G	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1845	+			615			Extracellular (Potential).|Cadherin 6.		A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1845G>T	CCDS58980.1																																																																																				0.687	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		22	48	1	0	5.26e-13	6.65e-13	22	48				
PCDHGA6	56109	broad.mit.edu	37	5	140755543	140755543	+	Silent	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:140755543C>G	ENST00000517434.1	+	1	1893	c.1893C>G	c.(1891-1893)gcC>gcG	p.A631A	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	631	Cadherin 6. {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)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGCGCGCCCTGCTGGACA	0.701																																						uc003ljy.1		NA																	0				breast(1)	1						c.(1891-1893)GCC>GCG		protocadherin gamma subfamily A, 6 isoform 1							40.0	49.0	46.0					5																	140755543		2202	4297	6499	SO:0001819	synonymous_variant	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140755543C>G	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1893C>G	5.37:g.140755543C>G						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.A631A	p.A631A	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1893	+			631			Extracellular (Potential).|Cadherin 6.		A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.1893C>G	CCDS54926.1																																																																																				0.701	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		17	34	0	0	0	0	17	34				
PCDHGA7	56108	broad.mit.edu	37	5	140764014	140764014	+	Silent	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:140764014G>C	ENST00000518325.1	+	1	1548	c.1548G>C	c.(1546-1548)gcG>gcC	p.A516A	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	516	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGTACGCGCTGCAATCCT	0.517																																						uc003lka.1		NA																	0					0						c.(1546-1548)GCG>GCC		protocadherin gamma subfamily A, 7 isoform 1							48.0	53.0	51.0					5																	140764014		2087	4255	6342	SO:0001819	synonymous_variant	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140764014G>C	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1548G>C	5.37:g.140764014G>C						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Silent_p.A516A	p.A516A	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1548	+			516			Extracellular (Potential).|Cadherin 5.		B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.1548G>C	CCDS54927.1																																																																																				0.517	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		9	21	0	0	0	0	9	21				
PCDHGB4	8641	broad.mit.edu	37	5	140768373	140768373	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:140768373G>C	ENST00000519479.1	+	1	922	c.922G>C	c.(922-924)Gaa>Caa	p.E308Q	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	308	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTAGATTTTGAAGAAGTCAA	0.398																																						uc003lkc.1		NA																	0					0						c.(922-924)GAA>CAA		protocadherin gamma subfamily B, 4 isoform 1							57.0	54.0	55.0					5																	140768373		1866	4120	5986	SO:0001583	missense	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140768373G>C	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.922G>C	5.37:g.140768373G>C	ENSP00000428288:p.Glu308Gln					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.E308Q	p.E308Q	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	922	+			308			Cadherin 3.|Extracellular (Potential).		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.922G>C	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	20.5	4.002191	0.74932	.	.	ENSG00000253953	ENST00000519479	T	0.72942	-0.7	4.99	4.99	0.66335	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.90208	0.6939	H	0.97659	4.05	0.40279	D	0.978377	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94052	0.7319	9	0.87932	D	0	.	18.6543	0.91445	0.0:0.0:1.0:0.0	.	308;308	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	Q	308	ENSP00000428288:E308Q	ENSP00000428288:E308Q	E	+	1	0	PCDHGB4	140748557	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	7.785000	0.85724	2.468000	0.83385	0.655000	0.94253	GAA		0.398	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		7	20	0	0	0	0	7	20				
POU4F3	5459	broad.mit.edu	37	5	145719943	145719943	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:145719943T>C	ENST00000230732.4	+	2	1042	c.953T>C	c.(952-954)gTg>gCg	p.V318A	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	318					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAACGTGGTGAGAGTCTGG	0.547																																						uc003loa.2		NA																	0					0						c.(952-954)GTG>GCG		POU class 4 homeobox 3							59.0	57.0	58.0					5																	145719943		2203	4300	6503	SO:0001583	missense	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145719943T>C	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.953T>C	5.37:g.145719943T>C	ENSP00000230732:p.Val318Ala						p.V318A	NM_002700	NP_002691	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1042	+			318			Homeobox.		O60557|Q2M3F8	Missense_Mutation	SNP	ENST00000230732.4	37	c.953T>C	CCDS4281.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.558314	0.65538	.	.	ENSG00000091010	ENST00000230732	D	0.99014	-5.33	4.62	4.62	0.57501	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000002	D	0.99566	0.9844	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97769	1.0225	10	0.87932	D	0	.	13.1438	0.59450	0.0:0.0:0.0:1.0	.	318	Q15319	PO4F3_HUMAN	A	318	ENSP00000230732:V318A	ENSP00000230732:V318A	V	+	2	0	POU4F3	145700136	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.845000	0.86875	1.922000	0.55676	0.379000	0.24179	GTG		0.547	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		9	27	0	0	0	0	9	27				
GABRG2	2566	broad.mit.edu	37	5	161576255	161576255	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:161576255C>A	ENST00000361925.4	+	8	1284	c.1064C>A	c.(1063-1065)aCc>aAc	p.T355N	GABRG2_ENST00000393933.4_Missense_Mutation_p.T260N|GABRG2_ENST00000414552.2_Missense_Mutation_p.T395N|GABRG2_ENST00000356592.3_Missense_Mutation_p.T355N			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	355					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAGTATGGCACCTTGCATTAT	0.423																																						uc003lyz.3		NA																	0				ovary(4)|skin(1)	5						c.(1063-1065)ACC>AAC		gamma-aminobutyric acid A receptor, gamma 2							209.0	174.0	185.0					5																	161576255		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161576255C>A		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1064C>A	5.37:g.161576255C>A	ENSP00000354651:p.Thr355Asn					GABRG2_uc010jjc.2_Missense_Mutation_p.T395N|GABRG2_uc003lyy.3_Missense_Mutation_p.T355N|GABRG2_uc011dej.1_Missense_Mutation_p.T260N	p.T355N	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	8	1422	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	355			Helical; (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.1064C>A	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063695	0.93898	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	5.61	5.61	0.85477	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.045241	0.85682	N	0.000000	D	0.94188	0.8135	M	0.82823	2.61	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.991	D;D;D	0.77004	0.989;0.972;0.953	D	0.94506	0.7714	10	0.87932	D	0	.	19.6572	0.95847	0.0:1.0:0.0:0.0	.	395;355;355	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	N	355;395;355;260	ENSP00000349000:T355N;ENSP00000410732:T395N;ENSP00000354651:T355N;ENSP00000377510:T260N	ENSP00000349000:T355N	T	+	2	0	GABRG2	161508833	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.993000	0.70616	2.630000	0.89119	0.650000	0.86243	ACC		0.423	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			12	43	1	0	1.5e-05	1.66e-05	12	43				
WWC1	23286	broad.mit.edu	37	5	167891755	167891755	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:167891755C>T	ENST00000265293.4	+	21	3440	c.2938C>T	c.(2938-2940)Cgc>Tgc	p.R980C	WWC1_ENST00000521089.1_Missense_Mutation_p.R986C|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	980	Interaction with PRKCZ.|Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CAAGTCGCTGCGCTCCGAGCG	0.597																																						uc003lzu.2		NA																	0				ovary(2)|skin(2)|breast(1)	5						c.(2938-2940)CGC>TGC		WW and C2 domain containing 1 isoform 3							46.0	46.0	46.0					5																	167891755		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167891755C>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2938C>T	5.37:g.167891755C>T	ENSP00000265293:p.Arg980Cys					WWC1_uc003lzv.2_Missense_Mutation_p.R986C|WWC1_uc011den.1_Missense_Mutation_p.R986C|WWC1_uc003lzw.2_Missense_Mutation_p.R779C|WWC1_uc010jjf.1_Missense_Mutation_p.R252C	p.R980C	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	21	3031	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	980			Interaction with PRKCZ.|Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.2938C>T	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.90|14.90	2.674517|2.674517	0.47781|0.47781	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000393895;ENST00000524228|ENST00000265293;ENST00000521089;ENST00000524038	.|T;T;T	.|0.52983	.|0.64;0.64;0.64	4.99|4.99	3.04|3.04	0.35103|0.35103	.|.	.|0.067270	.|0.64402	.|D	.|0.000017	T|T	0.43344|0.43344	0.1243|0.1243	L|L	0.29908|0.29908	0.895|0.895	0.44816|0.44816	D|D	0.997829|0.997829	.|D;D	.|0.69078	.|0.997;0.996	.|P;P	.|0.53861	.|0.736;0.528	T|T	0.37776|0.37776	-0.9691|-0.9691	5|10	.|0.66056	.|D	.|0.02	.|.	7.5183|7.5183	0.27614|0.27614	0.1559:0.475:0.3691:0.0|0.1559:0.475:0.3691:0.0	.|.	.|986;980	.|Q8IX03-2;Q8IX03	.|.;KIBRA_HUMAN	V|C	947;756|980;986;312	.|ENSP00000265293:R980C;ENSP00000427772:R986C;ENSP00000428084:R312C	.|ENSP00000265293:R980C	A|R	+|+	2|1	0|0	WWC1|WWC1	167824333|167824333	0.822000|0.822000	0.29219|0.29219	0.993000|0.993000	0.49108|0.49108	0.518000|0.518000	0.34316|0.34316	1.254000|1.254000	0.32897|0.32897	2.326000|2.326000	0.78906|0.78906	0.442000|0.442000	0.29010|0.29010	GCG|CGC		0.597	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		7	24	0	0	0	0	7	24				
SLIT3	6586	broad.mit.edu	37	5	168671713	168671713	+	Silent	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:168671713G>T	ENST00000519560.1	-	3	756	c.337C>A	c.(337-339)Cga>Aga	p.R113R	SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000332966.8_Silent_p.R113R|SLIT3_ENST00000404867.3_Silent_p.R113R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	113					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTTACAGTCGCTCTAGCTGC	0.413																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	0				ovary(3)|skin(1)	4						c.(337-339)CGA>AGA		slit homolog 3 precursor							93.0	80.0	84.0					5																	168671713		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168671713G>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.337C>A	5.37:g.168671713G>T						SLIT3_uc010jjg.2_Silent_p.R113R|SLIT3_uc010jji.2_Silent_p.R113R	p.R113R	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	757	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	113			LRR 3.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.337C>A	CCDS4369.1																																																																																				0.413	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		10	22	1	0	9.7e-10	1.17e-09	10	22				
NPM1	4869	broad.mit.edu	37	5	170818333	170818333	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:170818333G>A	ENST00000296930.5	+	3	464	c.163G>A	c.(163-165)Gat>Aat	p.D55N	NPM1_ENST00000517671.1_Missense_Mutation_p.D55N|NPM1_ENST00000393820.2_Missense_Mutation_p.D55N|NPM1_ENST00000351986.6_Missense_Mutation_p.D55N	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	55	Necessary for interaction with APEX1.|Required for interaction with SENP3.	Interaction between pentamers. {ECO:0000250}.			cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGTGCAAAGGATGAGTTGCA	0.403			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	uc011dex.1		NA		Dom	yes		5	5q35	4869	T|F 	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""			L	ALK|RARA|MLF1		NHL|APL|AML	NPM1/ALK(632)	0				haematopoietic_and_lymphoid_tissue(3109)|skin(1)	3110						c.(163-165)GAT>AAT		nucleophosmin 1 isoform 1							126.0	129.0	128.0					5																	170818333		2203	4300	6503	SO:0001583	missense	4869				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding	g.chr5:170818333G>A	M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.163G>A	5.37:g.170818333G>A	ENSP00000296930:p.Asp55Asn					NPM1_uc003mbh.2_Missense_Mutation_p.D55N|NPM1_uc003mbi.2_Missense_Mutation_p.D55N|NPM1_uc003mbj.2_Missense_Mutation_p.D55N	p.D55N	NM_002520	NP_002511	P06748	NPM_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	298	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	55			Necessary for interaction with APEX1.|Required for interaction with SENP3.		A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Missense_Mutation	SNP	ENST00000296930.5	37	c.163G>A	CCDS4376.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921717	0.73213	.	.	ENSG00000181163	ENST00000517671;ENST00000296930;ENST00000351986;ENST00000393820;ENST00000523622	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	4.64	4.64	0.57946	Nucleoplasmin core (2);	0.000000	0.85682	U	0.000000	T	0.74906	0.3778	M	0.89904	3.07	0.80722	D	1	B;P;D	0.89917	0.296;0.562;1.0	B;B;D	0.83275	0.149;0.316;0.996	T	0.81895	-0.0723	10	0.87932	D	0	.	17.4858	0.87688	0.0:0.0:1.0:0.0	.	55;55;55	P06748-2;P06748;Q9BYG9	.;NPM_HUMAN;.	N	55;55;55;55;47	ENSP00000428755:D55N;ENSP00000296930:D55N;ENSP00000341168:D55N;ENSP00000377408:D55N;ENSP00000428647:D47N	ENSP00000296930:D55N	D	+	1	0	NPM1	170750938	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.843000	0.75384	2.282000	0.76494	0.585000	0.79938	GAT		0.403	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252858.2	NM_002520		21	29	0	0	0	0	21	29				
UIMC1	51720	broad.mit.edu	37	5	176396024	176396024	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:176396024G>A	ENST00000377227.4	-	6	864	c.732C>T	c.(730-732)ctC>ctT	p.L244L	UIMC1_ENST00000506128.1_Intron|UIMC1_ENST00000511320.1_Silent_p.L244L|UIMC1_ENST00000503273.1_5'Flank|UIMC1_ENST00000377219.2_Silent_p.L244L			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	244					double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACAGCTTTGAGAAAAGCAG	0.517																																						uc011dfp.1		NA																	0				ovary(3)|skin(1)	4						c.(730-732)CTC>CTT		ubiquitin interaction motif containing 1							117.0	126.0	123.0					5																	176396024		2203	4300	6503	SO:0001819	synonymous_variant	51720				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	g.chr5:176396024G>A	AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"""receptor associated protein 80"""	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.732C>T	5.37:g.176396024G>A						UIMC1_uc003mfc.1_Silent_p.L121L|UIMC1_uc003mfd.1_Intron|UIMC1_uc003mfg.1_Intron|UIMC1_uc003mff.1_Intron	p.L244L	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	899	-	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	244					A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Silent	SNP	ENST00000377227.4	37	c.732C>T	CCDS4408.1																																																																																				0.517	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		14	68	0	0	0	0	14	68				
FLT4	2324	broad.mit.edu	37	5	180053207	180053207	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:180053207C>T	ENST00000261937.6	-	9	1240	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	FLT4_ENST00000393347.3_Missense_Mutation_p.E388K|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.E388K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	388	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTGTCACCTCCTTGAGCACC	0.627																																					Colon(97;1075 1466 27033 27547 35871)	uc003mma.3		NA																	0				lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(1162-1164)GAG>AAG		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						111.0	113.0	113.0					5																	180053207		2203	4300	6503	SO:0001583	missense	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180053207C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1162G>A	5.37:g.180053207C>T	ENSP00000261937:p.Glu388Lys					FLT4_uc003mlz.3_Missense_Mutation_p.E388K|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.1_Missense_Mutation_p.E388K	p.E388K	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	9	1241	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	388			Ig-like C2-type 4.|Extracellular (Potential).		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.1162G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619253	0.87460	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.79247	-1.25;-1.25;-1.25	4.5	3.62	0.41486	Immunoglobulin subtype (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78553	0.4301	L	0.42581	1.335	0.42572	D	0.993182	D;P;B	0.54772	0.968;0.578;0.407	P;P;P	0.54889	0.763;0.507;0.507	T	0.78089	-0.2340	9	0.45353	T	0.12	.	12.3305	0.55038	0.0:0.9158:0.0:0.0842	.	388;388;388	P35916-3;E9PD35;P35916	.;.;VGFR3_HUMAN	K	388;388;388;198	ENSP00000261937:E388K;ENSP00000377016:E388K;ENSP00000426057:E388K	ENSP00000261937:E388K	E	-	1	0	FLT4	179985813	1.000000	0.71417	0.997000	0.53966	0.873000	0.50193	3.887000	0.56197	1.028000	0.39785	0.561000	0.74099	GAG		0.627	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			14	46	0	0	0	0	14	46				
SLC17A3	10786	broad.mit.edu	37	6	25851036	25851036	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:25851036C>T	ENST00000360657.3	-	6	833	c.548G>A	c.(547-549)tGg>tAg	p.W183*	SLC17A3_ENST00000361703.6_Nonsense_Mutation_p.W183*|SLC17A3_ENST00000397060.4_Nonsense_Mutation_p.W261*			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	183					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GGTGCTTATCCATGGATAGGA	0.413																																						uc003nfi.3		NA																	0					0						c.(547-549)TGG>TAG		solute carrier family 17 (sodium phosphate),							145.0	141.0	142.0					6																	25851036		2203	4300	6503	SO:0001587	stop_gained	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25851036C>T	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.548G>A	6.37:g.25851036C>T	ENSP00000353873:p.Trp183*					SLC17A3_uc003nfk.3_Nonsense_Mutation_p.W261*|SLC17A3_uc011djz.1_Nonsense_Mutation_p.W261*|SLC17A3_uc011dka.1_Nonsense_Mutation_p.W183*	p.W183*	NM_006632	NP_006623	O00476	NPT4_HUMAN			6	658	-			183					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Nonsense_Mutation	SNP	ENST00000360657.3	37	c.548G>A	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410009	0.83340	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	.	.	.	4.81	3.8	0.43715	.	0.475837	0.18078	N	0.152393	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	9.07	0.36486	0.2733:0.7267:0.0:0.0	.	.	.	.	X	261;183;183	.	ENSP00000353873:W183X	W	-	2	0	SLC17A3	25959015	0.002000	0.14202	1.000000	0.80357	0.539000	0.34962	0.199000	0.17237	2.367000	0.80283	0.585000	0.79938	TGG		0.413	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			13	37	0	0	0	0	13	37				
HIST1H1T	3010	broad.mit.edu	37	6	26108148	26108148	+	Silent	SNP	T	T	A	rs533573752	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:26108148T>A	ENST00000338379.4	-	1	216	c.174A>T	c.(172-174)cgA>cgT	p.R58R		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	58	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						ACATACCTACTCGTTCCTGTG	0.532													T|||	2	0.000399361	0.0	0.0	5008	,	,		19317	0.002		0.0	False		,,,				2504	0.0					uc003ngj.2		NA																	0				ovary(2)	2						c.(172-174)CGA>CGT		histone cluster 1, H1t							128.0	110.0	116.0					6																	26108148		2203	4300	6503	SO:0001819	synonymous_variant	3010				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	g.chr6:26108148T>A	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.174A>T	6.37:g.26108148T>A							p.R58R	NM_005323	NP_005314	P22492	H1T_HUMAN			1	217	-			58			H15.		Q6ISI1|Q8IUE8	Silent	SNP	ENST00000338379.4	37	c.174A>T	CCDS34349.1																																																																																				0.532	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		24	56	0	0	0	0	24	56				
HIST1H2AG	8969	broad.mit.edu	37	6	27101036	27101036	+	Silent	SNP	G	G	A	rs372313450		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:27101036G>A	ENST00000359193.2	+	1	205	c.186G>A	c.(184-186)gaG>gaA	p.E62E	HIST1H2BJ_ENST00000541790.1_5'Flank|HIST1H2BJ_ENST00000339812.2_5'Flank|HIST1H2BJ_ENST00000607124.1_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	62						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						TGACCGCCGAGATCCTGGAAC	0.667																																						uc003niw.2		NA																	0					0						c.(184-186)GAG>GAA		histone cluster 1, H2ag		G		0,4406		0,0,2203	60.0	62.0	61.0		186	4.1	1.0	6		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HIST1H2AG	NM_021064.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		62/131	27101036	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8969				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27101036G>A	L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"""Histones / Replication-dependent"""	4737	protein-coding gene	gene with protein product		615012	"""H2A histone family, member P"", ""histone 1, H2ag"""	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.186G>A	6.37:g.27101036G>A						HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	p.E62E	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN			1	220	+			62					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000359193.2	37	c.186G>A	CCDS4619.1																																																																																				0.667	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040137.1	NM_021064		24	44	0	0	0	0	24	44				
COL11A2	1302	broad.mit.edu	37	6	33145004	33145004	+	Splice_Site	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:33145004T>A	ENST00000374708.4	-	22	1972		c.e22-2		COL11A2_ENST00000374714.1_Splice_Site|COL11A2_ENST00000361917.1_Splice_Site|COL11A2_ENST00000341947.2_Splice_Site|COL11A2_ENST00000395197.1_Splice_Site|COL11A2_ENST00000357486.1_Splice_Site|COL11A2_ENST00000374713.1_Splice_Site|COL11A2_ENST00000477772.1_Splice_Site|COL11A2_ENST00000374712.1_Splice_Site	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2						cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGAAGACCCTACATACAGGG	0.547																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1		NA																	0				ovary(3)|skin(2)	5						c.e24-1		collagen, type XI, alpha 2 isoform 1							42.0	50.0	47.0					6																	33145004		1507	2706	4213	SO:0001630	splice_region_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33145004T>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1714-2A>T	6.37:g.33145004T>A						COL11A2_uc010jul.1_Splice_Site_p.R37_splice|COL11A2_uc003ocy.1_Splice_Site_p.G572_splice|COL11A2_uc003ocz.1_Splice_Site_p.G551_splice	p.G658_splice	NM_080680	NP_542411	P13942	COBA2_HUMAN			24	2200	-								A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Splice_Site	SNP	ENST00000374708.4	37	c.1972_splice	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.841377	0.32513	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000395196	.	.	.	4.16	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5266	0.39169	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A2	33252982	1.000000	0.71417	0.953000	0.39169	0.287000	0.27160	6.195000	0.72088	1.755000	0.51935	0.523000	0.50628	.		0.547	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		Intron	26	38	0	0	0	0	26	38				
DAAM2	23500	broad.mit.edu	37	6	39843198	39843198	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:39843198G>T	ENST00000398904.2	+	11	1437	c.1255G>T	c.(1255-1257)Gac>Tac	p.D419Y	DAAM2_ENST00000274867.4_Missense_Mutation_p.D419Y|DAAM2_ENST00000538976.1_Missense_Mutation_p.D419Y			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	419					actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGTGGACCCTGACCTGGCTCC	0.572																																						uc003oow.2		NA																	0				ovary(2)|skin(1)	3						c.(1255-1257)GAC>TAC		dishevelled associated activator of							85.0	89.0	88.0					6																	39843198		2112	4237	6349	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39843198G>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1255G>T	6.37:g.39843198G>T	ENSP00000381876:p.Asp419Tyr					DAAM2_uc010jxc.2_Missense_Mutation_p.D419Y|DAAM2_uc003oox.2_Missense_Mutation_p.D419Y	p.D419Y	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			11	1411	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		419					G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.1255G>T	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095806	0.94197	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.84223	-1.82;-1.82;-1.82	5.94	5.94	0.96194	Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94503	0.8230	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94922	0.8074	10	0.87932	D	0	.	19.9609	0.97250	0.0:0.0:1.0:0.0	.	419;419	G5EA45;Q86T65	.;DAAM2_HUMAN	Y	419	ENSP00000274867:D419Y;ENSP00000381876:D419Y;ENSP00000437808:D419Y	ENSP00000274867:D419Y	D	+	1	0	DAAM2	39951176	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	GAC		0.572	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			24	40	1	0	5.35e-11	6.58e-11	24	40				
MLIP	90523	broad.mit.edu	37	6	54025221	54025221	+	Silent	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:54025221A>T	ENST00000274897.5	+	5	854	c.741A>T	c.(739-741)ccA>ccT	p.P247P	MLIP_ENST00000358276.5_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370877.2_Silent_p.P171P|MLIP_ENST00000502396.1_Silent_p.P782P|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000514921.1_Silent_p.P771P	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	247						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CATTAGAACCACCAGTGGAGG	0.398																																						uc003pcg.3		NA																	0					0						c.(739-741)CCA>CCT		hypothetical protein LOC90523							84.0	78.0	80.0					6																	54025221		2203	4300	6503	SO:0001819	synonymous_variant	90523					nuclear envelope|PML body	protein binding	g.chr6:54025221A>T	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.741A>T	6.37:g.54025221A>T						C6orf142_uc003pcf.2_Silent_p.P771P|C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Silent_p.P782P	p.P247P	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN			5	854	+	Lung NSC(77;0.0317)		247					B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	ENST00000274897.5	37	c.741A>T	CCDS4954.1																																																																																				0.398	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		6	22	0	0	0	0	6	22				
GFRAL	389400	broad.mit.edu	37	6	55223861	55223861	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:55223861T>A	ENST00000340465.2	+	6	963	c.877T>A	c.(877-879)Tgt>Agt	p.C293S		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	293					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCAATGTACCTGTAGGACCAT	0.398																																						uc003pcm.1		NA																	0				ovary(1)|breast(1)	2						c.(877-879)TGT>AGT		GDNF family receptor alpha like precursor							148.0	133.0	138.0					6																	55223861		2203	4299	6502	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55223861T>A	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.877T>A	6.37:g.55223861T>A	ENSP00000343636:p.Cys293Ser						p.C293S	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		6	963	+	Lung NSC(77;0.0875)|Renal(3;0.122)		293			Extracellular (Potential).		Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.877T>A	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.051646	0.75960	.	.	ENSG00000187871	ENST00000340465	D	0.84070	-1.8	5.67	5.67	0.87782	GDNF/GAS1 (2);	0.108835	0.64402	D	0.000007	D	0.88448	0.6439	M	0.65498	2.005	0.48696	D	0.999698	D	0.89917	1.0	D	0.97110	1.0	D	0.90065	0.4159	10	0.87932	D	0	-11.318	15.9169	0.79527	0.0:0.0:0.0:1.0	.	293	Q6UXV0	GFRAL_HUMAN	S	293	ENSP00000343636:C293S	ENSP00000343636:C293S	C	+	1	0	GFRAL	55331820	1.000000	0.71417	0.948000	0.38648	0.796000	0.44982	5.495000	0.66912	2.152000	0.67230	0.455000	0.32223	TGT		0.398	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		31	63	0	0	0	0	31	63				
COL21A1	81578	broad.mit.edu	37	6	55939064	55939064	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:55939064C>A	ENST00000244728.5	-	20	2328	c.1931G>T	c.(1930-1932)gGc>gTc	p.G644V	COL21A1_ENST00000370808.2_Missense_Mutation_p.G44V|COL21A1_ENST00000370819.1_Missense_Mutation_p.G641V|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.G644V	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	644					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCCTGGTGAGCCATTGCTTCC	0.328																																						uc003pcs.2		NA																	0				ovary(2)	2						c.(1930-1932)GGC>GTC		collagen, type XXI, alpha 1 precursor							90.0	87.0	88.0					6																	55939064		1805	4069	5874	SO:0001583	missense	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:55939064C>A	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1931G>T	6.37:g.55939064C>A	ENSP00000244728:p.Gly644Val					COL21A1_uc010jzz.2_Missense_Mutation_p.G29V|COL21A1_uc011dxg.1_Missense_Mutation_p.G29V|COL21A1_uc011dxh.1_Missense_Mutation_p.G29V|COL21A1_uc003pcr.2_Missense_Mutation_p.A2S	p.G644V	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		20	2163	-	Lung NSC(77;0.0483)		644			Collagen-like 3.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.1931G>T	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375282	0.42105	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	D;D;D;D	0.99353	-4.9;-5.77;-4.9;-5.77	4.67	4.67	0.58626	.	0.000000	0.53938	D	0.000042	D	0.99691	0.9883	H	0.98965	4.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.97337	0.9954	10	0.87932	D	0	.	13.4456	0.61138	0.0:1.0:0.0:0.0	.	44;644;644	Q96P44-2;B7ZLK3;Q96P44	.;.;COLA1_HUMAN	V	644;641;644;641;44	ENSP00000244728:G644V;ENSP00000359855:G641V;ENSP00000444384:G644V;ENSP00000359844:G44V	ENSP00000244728:G644V	G	-	2	0	COL21A1	56047023	0.694000	0.27738	0.993000	0.49108	0.952000	0.60782	3.726000	0.54977	2.289000	0.77006	0.655000	0.94253	GGC		0.328	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			37	60	1	0	5.72e-15	7.36e-15	37	60				
DST	667	broad.mit.edu	37	6	56357099	56357099	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:56357099G>A	ENST00000361203.3	-	80	19730	c.19723C>T	c.(19723-19725)Cga>Tga	p.R6575*	DST_ENST00000340834.4_5'Flank|DST_ENST00000421834.2_Nonsense_Mutation_p.R4598*|DST_ENST00000370769.4_Nonsense_Mutation_p.R6686*|DST_ENST00000244364.6_Nonsense_Mutation_p.R4272*|DST_ENST00000370788.2_Nonsense_Mutation_p.R4489*|DST_ENST00000446842.2_Nonsense_Mutation_p.R6360*|DST_ENST00000312431.6_3'UTR|DST_ENST00000370754.5_Nonsense_Mutation_p.R6864*			Q03001	DYST_HUMAN	dystonin	6575					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.R6686*(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTTCCCATCGACTTTGTACA	0.383																																						uc003pdf.2		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(14326-14328)CGA>TGA		dystonin isoform 2							142.0	130.0	134.0					6																	56357099		1861	4091	5952	SO:0001587	stop_gained	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56357099G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19723C>T	6.37:g.56357099G>A	ENSP00000354508:p.Arg6575*					DST_uc003pcz.3_Nonsense_Mutation_p.R4598*|DST_uc011dxj.1_Nonsense_Mutation_p.R4627*|DST_uc011dxk.1_Nonsense_Mutation_p.R4638*|DST_uc003pcy.3_Nonsense_Mutation_p.R4272*|DST_uc003pda.3_5'UTR	p.R4776*	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		79	14354	-	Lung NSC(77;0.103)		6684			Spectrin 17.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37	c.14326C>T		.	.	.	.	.	.	.	.	.	.	G	58	32.432126	0.99980	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	5.54	4.61	0.57282	.	0.000000	0.42548	D	0.000683	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5389	0.76024	0.0:0.0:0.7928:0.2072	.	.	.	.	X	4272;6864;6686;4598;6360;4489;6575	.	ENSP00000244364:R4272X	R	-	1	2	DST	56465058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.223000	0.58587	2.758000	0.94735	0.591000	0.81541	CGA		0.383	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		18	72	0	0	0	0	18	72				
BAI3	577	broad.mit.edu	37	6	69703783	69703783	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:69703783G>T	ENST00000370598.1	+	11	2679	c.1858G>T	c.(1858-1860)Gtg>Ttg	p.V620L		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	620					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTGATGTCTGTGGAGATCCT	0.463																																						uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(1858-1860)GTG>TTG		brain-specific angiogenesis inhibitor 3							127.0	130.0	129.0					6																	69703783		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69703783G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1858G>T	6.37:g.69703783G>T	ENSP00000359630:p.Val620Leu					BAI3_uc010kak.2_Missense_Mutation_p.V620L	p.V620L	NM_001704	NP_001695	O60242	BAI3_HUMAN			11	2306	+		all_lung(197;0.212)	620			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.1858G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	32	5.135107	0.94517	.	.	ENSG00000135298	ENST00000370598	T	0.12465	2.68	6.05	6.05	0.98169	Domain of unknown function DUF3497 (1);	0.142988	0.45606	D	0.000341	T	0.17534	0.0421	L	0.34521	1.04	0.80722	D	1	D	0.55800	0.973	P	0.57101	0.813	T	0.00489	-1.1709	10	0.54805	T	0.06	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	620	O60242	BAI3_HUMAN	L	620	ENSP00000359630:V620L	ENSP00000359630:V620L	V	+	1	0	BAI3	69760504	1.000000	0.71417	0.984000	0.44739	0.949000	0.60115	9.837000	0.99465	2.878000	0.98634	0.650000	0.86243	GTG		0.463	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			53	70	1	0	1.86e-20	2.52e-20	53	70				
COL12A1	1303	broad.mit.edu	37	6	75806969	75806969	+	Splice_Site	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:75806969C>T	ENST00000322507.8	-	59	8886	c.8577G>A	c.(8575-8577)ccG>ccA	p.P2859P	COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000416123.2_Splice_Site_p.P2783P|COL12A1_ENST00000483888.2_Intron|COL12A1_ENST00000345356.6_Splice_Site_p.P1695P	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2859	Collagen-like 3.|Triple-helical region (COL2) with 1 imperfection.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAGTTCTTACCGGCGGCCCTG	0.483																																						uc003phs.2		NA																	0				ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(8575-8577)CCG>CCA		collagen, type XII, alpha 1 long isoform							119.0	123.0	122.0					6																	75806969		1849	4096	5945	SO:0001630	splice_region_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75806969C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8577+1G>A	6.37:g.75806969C>T						COL12A1_uc003pht.2_Silent_p.P1695P	p.P2859P	NM_004370	NP_004361	Q99715	COCA1_HUMAN			59	8743	-			2859			Triple-helical region (COL2) with 1 imperfection.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.8577G>A	CCDS43482.1																																																																																				0.483	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	Silent	17	46	0	0	0	0	17	46				
RARS2	57038	broad.mit.edu	37	6	88229969	88229969	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:88229969A>T	ENST00000369536.5	-	13	1086	c.1041T>A	c.(1039-1041)gaT>gaA	p.D347E	RARS2_ENST00000497828.1_5'Flank	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	347					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TTTGTCCTTTATCTGTCTTGG	0.313																																						uc003pme.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1039-1041)GAT>GAA		arginyl-tRNA synthetase 2, mitochondrial							149.0	144.0	145.0					6																	88229969		2203	4300	6503	SO:0001583	missense	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88229969A>T	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.1041T>A	6.37:g.88229969A>T	ENSP00000358549:p.Asp347Glu					RARS2_uc003pmb.2_Missense_Mutation_p.D172E|RARS2_uc003pmc.2_Missense_Mutation_p.D172E|RARS2_uc003pmd.2_5'UTR|RARS2_uc003pmf.2_RNA	p.D347E	NM_020320	NP_064716	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	13	1101	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	347					B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	c.1041T>A	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.949683	0.53186	.	.	ENSG00000146282	ENST00000369536	T	0.65549	-0.16	5.76	4.56	0.56223	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	M	0.91300	3.195	0.58432	D	0.999999	D	0.56746	0.977	D	0.63877	0.919	T	0.78917	-0.2015	10	0.72032	D	0.01	.	9.0718	0.36497	0.7934:0.0:0.2066:0.0	.	347	Q5T160	SYRM_HUMAN	E	347	ENSP00000358549:D347E	ENSP00000358549:D347E	D	-	3	2	RARS2	88286688	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.191000	0.42640	0.960000	0.38005	0.477000	0.44152	GAT		0.313	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		48	86	0	0	0	0	48	86				
PNISR	25957	broad.mit.edu	37	6	99850546	99850546	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:99850546C>T	ENST00000369239.5	-	11	1401	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	PNISR_ENST00000438806.1_Silent_p.E399E	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	399						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TGTCACTCCTCTCATCTTCAC	0.398																																						uc003ppo.3		NA																	0					0						c.(1195-1197)GAG>GAA		splicing factor, arginine/serine-rich 130							197.0	195.0	196.0					6																	99850546		2203	4300	6503	SO:0001819	synonymous_variant	25957					nuclear speck		g.chr6:99850546C>T	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1197G>A	6.37:g.99850546C>T						SFRS18_uc003ppl.2_5'Flank|SFRS18_uc003ppp.3_Silent_p.E399E|SFRS18_uc011eag.1_Silent_p.E399E	p.E399E	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0631)	11	1425	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	399					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Silent	SNP	ENST00000369239.5	37	c.1197G>A	CCDS5043.1																																																																																				0.398	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		59	130	0	0	0	0	59	130				
SLC22A16	85413	broad.mit.edu	37	6	110746270	110746270	+	Missense_Mutation	SNP	C	C	T	rs565008784		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:110746270C>T	ENST00000368919.3	-	8	1606	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T	SLC22A16_ENST00000330550.4_Missense_Mutation_p.A480T	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	514					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	CTCAGGAGGGCCATAGTCCCA	0.423																																						uc003puf.2		NA																	0				ovary(1)	1						c.(1540-1542)GCC>ACC		solute carrier family 22, member 16							64.0	63.0	63.0					6																	110746270		2203	4300	6503	SO:0001583	missense	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110746270C>T		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1540G>A	6.37:g.110746270C>T	ENSP00000357915:p.Ala514Thr					SLC22A16_uc003pue.2_Missense_Mutation_p.A495T	p.A514T	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	8	1607	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	514			Helical; (Potential).		O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	c.1540G>A	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	C	6.644	0.487282	0.12641	.	.	ENSG00000004809	ENST00000368919;ENST00000330550	T;T	0.75821	-0.97;-0.97	5.01	0.978	0.19740	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.166899	0.52532	N	0.000075	T	0.68375	0.2994	L	0.53617	1.68	0.41794	D	0.989881	D;D	0.76494	0.999;0.994	D;P	0.68192	0.956;0.881	T	0.65158	-0.6236	10	0.27785	T	0.31	.	7.2555	0.26173	0.4219:0.4987:0.0:0.0795	.	514;480	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	T	514;480	ENSP00000357915:A514T;ENSP00000328583:A480T	ENSP00000328583:A480T	A	-	1	0	SLC22A16	110852963	1.000000	0.71417	0.007000	0.13788	0.009000	0.06853	1.515000	0.35845	-0.050000	0.13356	-0.467000	0.05162	GCC		0.423	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		30	49	0	0	0	0	30	49				
RFPL4B	442247	broad.mit.edu	37	6	112671163	112671163	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:112671163C>A	ENST00000441065.2	+	3	565	c.253C>A	c.(253-255)Cac>Aac	p.H85N	RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	85	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GCAAAGTCTGCACGTGAGGGA	0.537																																						uc003pvx.1		NA																	0					0						c.(253-255)CAC>AAC		ret finger protein-like 4B							99.0	86.0	91.0					6																	112671163		2203	4300	6503	SO:0001583	missense	442247						zinc ion binding	g.chr6:112671163C>A	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.253C>A	6.37:g.112671163C>A	ENSP00000423391:p.His85Asn						p.H85N	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	565	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	85			B30.2/SPRY.		A2RU91	Missense_Mutation	SNP	ENST00000441065.2	37	c.253C>A	CCDS34515.1	.	.	.	.	.	.	.	.	.	.	C	7.594	0.671278	0.14776	.	.	ENSG00000251258	ENST00000441065	T	0.70164	-0.46	4.11	-1.25	0.09405	B30.2/SPRY domain (1);	.	.	.	.	T	0.27967	0.0689	L	0.50333	1.59	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.11941	-1.0567	9	0.20519	T	0.43	.	1.9133	0.03291	0.1424:0.292:0.3737:0.1918	.	85	Q6ZWI9	RFPLB_HUMAN	N	85	ENSP00000423391:H85N	ENSP00000423391:H85N	H	+	1	0	RFPL4B	112777856	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.347000	0.07750	-0.268000	0.09312	-0.127000	0.14921	CAC		0.537	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		13	19	1	0	2.32e-05	2.56e-05	13	19				
HS3ST5	222537	broad.mit.edu	37	6	114378425	114378425	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:114378425G>C	ENST00000312719.5	-	5	2225	c.1037C>G	c.(1036-1038)cCc>cGc	p.P346R	RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.P346R			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	346					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		ATTATTTTAGGGCCAGTTCAA	0.398																																						uc003pwg.3		NA																	0				ovary(1)|pancreas(1)	2						c.(1036-1038)CCC>CGC		heparan sulfate (glucosamine)							52.0	55.0	54.0					6																	114378425		2203	4300	6503	SO:0001583	missense	222537				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	g.chr6:114378425G>C	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.1037C>G	6.37:g.114378425G>C	ENSP00000427888:p.Pro346Arg					uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.P346R	p.P346R	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)	2	1069	-		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)	346			Lumenal (Potential).		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	c.1037C>G	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709757	0.48517	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.60548	0.18;0.18	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	L	0.52905	1.665	0.53005	D	0.999961	D	0.89917	1.0	D	0.85130	0.997	T	0.70695	-0.4801	10	0.87932	D	0	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	346	Q8IZT8	HS3S5_HUMAN	R	346	ENSP00000427888:P346R;ENSP00000440332:P346R	ENSP00000427888:P346R	P	-	2	0	HS3ST5	114485118	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.564000	0.73969	2.824000	0.97209	0.655000	0.94253	CCC		0.398	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		17	44	0	0	0	0	17	44				
CEP85L	387119	broad.mit.edu	37	6	118887220	118887220	+	Silent	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:118887220G>C	ENST00000368491.3	-	3	1113	c.492C>G	c.(490-492)gcC>gcG	p.A164A	CEP85L_ENST00000392500.3_Silent_p.A167A|CEP85L_ENST00000368488.5_Silent_p.A167A|CEP85L_ENST00000419517.2_Silent_p.A164A|CEP85L_ENST00000360290.3_Silent_p.A62A|CEP85L_ENST00000472713.1_5'UTR	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	164						centrosome (GO:0005813)|cytoplasm (GO:0005737)											AGTTATCCGGGGCAGTGAGTT	0.498																																						uc003pxz.1		NA																	0				breast(1)	1						c.(490-492)GCC>GCG		chromosome 6 open reading frame 204 isoform a							136.0	123.0	127.0					6																	118887220		2203	4300	6503	SO:0001819	synonymous_variant	387119					centrosome		g.chr6:118887220G>C	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.492C>G	6.37:g.118887220G>C						C6orf204_uc003pya.1_Silent_p.A167A|C6orf204_uc003pyb.2_Silent_p.A164A|C6orf204_uc011ebj.1_Silent_p.A62A|C6orf204_uc003pyc.2_Silent_p.A167A|C6orf204_uc011ebl.1_Silent_p.A62A	p.A164A	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)	3	1080	-		all_cancers(87;0.0814)|all_epithelial(87;0.115)	164					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Silent	SNP	ENST00000368491.3	37	c.492C>G	CCDS43498.1																																																																																				0.498	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		29	50	0	0	0	0	29	50				
TRDN	10345	broad.mit.edu	37	6	123759228	123759228	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:123759228G>C	ENST00000398178.3	-	12	1052	c.1031C>G	c.(1030-1032)gCc>gGc	p.A344G	RP11-532N4.2_ENST00000589182.1_RNA|RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000434768.1_RNA|TRDN_ENST00000334268.4_Missense_Mutation_p.A344G|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000587049.1_RNA	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	344					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CACATCAATGGCAGTTTCCTT	0.348																																						uc003pzj.1		NA																	0				ovary(1)	1						c.(1030-1032)GCC>GGC		triadin							137.0	132.0	134.0					6																	123759228		1856	4084	5940	SO:0001583	missense	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123759228G>C	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1031C>G	6.37:g.123759228G>C	ENSP00000381240:p.Ala344Gly					TRDN_uc003pzk.1_Missense_Mutation_p.A345G|TRDN_uc003pzl.1_Missense_Mutation_p.A345G|uc003pzm.1_5'Flank	p.A344G	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	12	1053	-			344			Lumenal.		A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	c.1031C>G	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081243	0.36758	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.63255	-0.03;-0.03	5.49	-1.86	0.07760	.	0.923240	0.09088	N	0.850335	T	0.16085	0.0387	N	0.14661	0.345	0.09310	N	1	B;B;B	0.26400	0.089;0.089;0.148	B;B;B	0.19946	0.027;0.027;0.027	T	0.14811	-1.0459	10	0.23891	T	0.37	4.0094	4.8698	0.13627	0.5409:0.0:0.303:0.1561	.	344;345;344	Q5SWK9;Q8IVK2;Q13061	.;.;TRDN_HUMAN	G	344	ENSP00000381240:A344G;ENSP00000333984:A344G	ENSP00000333984:A344G	A	-	2	0	TRDN	123800927	0.001000	0.12720	0.001000	0.08648	0.857000	0.48899	0.176000	0.16782	-0.191000	0.10448	0.650000	0.86243	GCC		0.348	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	11	0	0	0	0	4	11				
TCF21	6943	broad.mit.edu	37	6	134210906	134210906	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:134210906C>T	ENST00000367882.4	+	1	631	c.371C>T	c.(370-372)gCg>gTg	p.A124V	RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.A124V	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	124	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CTCAGGCTGGCGTCCAGCTAC	0.617																																						uc003qei.3		NA																	0					0						c.(370-372)GCG>GTG		transcription factor 21							90.0	88.0	89.0					6																	134210906		2200	4299	6499	SO:0001583	missense	6943				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:134210906C>T	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.371C>T	6.37:g.134210906C>T	ENSP00000356857:p.Ala124Val					uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.A124V	p.A124V	NM_003206	NP_003197	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	1	647	+	Colorectal(23;0.221)|Breast(56;0.247)		124			Helix-loop-helix motif.		E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	ENST00000367882.4	37	c.371C>T	CCDS5167.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139303	0.94560	.	.	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.99474	-5.97;-5.97	4.17	4.17	0.49024	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99548	0.9838	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98078	1.0402	10	0.87932	D	0	-19.9871	16.86	0.86014	0.0:1.0:0.0:0.0	.	124	O43680	TCF21_HUMAN	V	124	ENSP00000356857:A124V;ENSP00000237316:A124V	ENSP00000237316:A124V	A	+	2	0	TCF21	134252599	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.033000	0.60031	0.462000	0.41574	GCG		0.617	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		17	63	0	0	0	0	17	63				
AHI1	54806	broad.mit.edu	37	6	135679271	135679271	+	Splice_Site	SNP	G	G	T	rs73559947	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:135679271G>T	ENST00000367800.4	-	22	3380	c.3164C>A	c.(3163-3165)aCg>aAg	p.T1055K	AHI1_ENST00000417892.2_Splice_Site_p.T409K|AHI1_ENST00000457866.2_Splice_Site_p.T1055K	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1055	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTGTCTTACCGTTGGTGCTGT	0.358																																						uc003qgi.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(3163-3165)ACG>AAG		Abelson helper integration site 1 isoform a							287.0	275.0	279.0					6																	135679271		1856	4105	5961	SO:0001630	splice_region_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135679271G>T	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.3165+1C>A	6.37:g.135679271G>T						AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Missense_Mutation_p.T505K|AHI1_uc003qgh.2_Missense_Mutation_p.T1055K|AHI1_uc003qgj.2_Missense_Mutation_p.T1055K|AHI1_uc003qgk.3_RNA	p.T1055K	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	24	3548	-	Breast(56;0.239)|Colorectal(23;0.24)		1055			SH3.		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.3164C>A	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717632	0.30413	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.4	-2.01	0.07410	Src homology-3 domain (4);	1.089640	0.06787	N	0.786393	T	0.02649	0.0080	N	0.01417	-0.88	0.80722	D	1	B;B	0.25441	0.015;0.126	B;B	0.22152	0.009;0.038	T	0.46148	-0.9212	10	0.14656	T	0.56	-0.2204	5.7286	0.18026	0.5115:0.0:0.2706:0.2179	.	1055;1055	Q8N157;Q4FD35	AHI1_HUMAN;.	K	1055;1055;409;1055	ENSP00000356774:T1055K;ENSP00000388650:T1055K;ENSP00000416867:T409K;ENSP00000265602:T1055K	ENSP00000265602:T1055K	T	-	2	0	AHI1	135720964	0.953000	0.32496	0.967000	0.41034	0.702000	0.40608	-0.144000	0.10280	-0.381000	0.07882	-1.012000	0.02466	ACG		0.358	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651	Missense_Mutation	48	203	1	0	8e-19	1.08e-18	48	203				
REPS1	85021	broad.mit.edu	37	6	139229952	139229952	+	Splice_Site	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:139229952C>T	ENST00000450536.2	-	18	2643	c.2069G>A	c.(2068-2070)aGc>aAc	p.S690N	REPS1_ENST00000367663.4_Splice_Site_p.S663N|REPS1_ENST00000415951.2_Splice_Site_p.S631N|REPS1_ENST00000258062.5_Splice_Site_p.S689N|REPS1_ENST00000409812.2_Splice_Site_p.S599N			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	690	Interaction with RALBP1. {ECO:0000250}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TGTGCCTTTGCTCTTTAAGAC	0.363																																						uc003qii.2		NA																	0				lung(1)|breast(1)	2						c.(2068-2070)AGC>AAC		RALBP1 associated Eps domain containing 1							127.0	115.0	119.0					6																	139229952		2203	4300	6503	SO:0001630	splice_region_variant	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139229952C>T		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.2068-1G>A	6.37:g.139229952C>T						REPS1_uc003qig.3_Missense_Mutation_p.S663N|REPS1_uc011edr.1_Missense_Mutation_p.S689N|REPS1_uc003qij.2_Missense_Mutation_p.S599N|REPS1_uc003qik.2_Missense_Mutation_p.S296N	p.S690N	NM_031922	NP_114128	Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	18	2648	-			690			Interaction with RALBP1 (By similarity).		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.2069G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.40|13.40	2.225333|2.225333	0.39300|0.39300	.|.	.|.	ENSG00000135597|ENSG00000135597	ENST00000478483|ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	.|T;T;T;T;T;T	.|0.32753	.|1.48;1.47;1.47;1.49;1.48;1.44	5.23|5.23	4.36|4.36	0.52297|0.52297	.|.	.|0.499391	.|0.24242	.|N	.|0.040256	T|T	0.16300|0.16300	0.0392|0.0392	N|N	0.14661|0.14661	0.345|0.345	0.28557|0.28557	N|N	0.911309|0.911309	.|B;B;D;B;B	.|0.57899	.|0.096;0.058;0.981;0.058;0.0	.|B;B;P;B;B	.|0.56563	.|0.068;0.016;0.801;0.031;0.0	T|T	0.09079|0.09079	-1.0691|-1.0691	5|10	.|0.26408	.|T	.|0.33	-3.6194|-3.6194	13.6612|13.6612	0.62368|0.62368	0.0:0.9259:0.0:0.0741|0.0:0.9259:0.0:0.0741	.|.	.|689;638;599;690;631	.|Q96D71-3;B2R7D3;Q96D71-2;Q96D71;E9PMG1	.|.;.;.;REPS1_HUMAN;.	T|N	69|690;663;648;599;689;631;638	.|ENSP00000392065:S690N;ENSP00000356635:S663N;ENSP00000434251:S648N;ENSP00000386699:S599N;ENSP00000258062:S689N;ENSP00000397941:S631N	.|ENSP00000258062:S689N	A|S	-|-	1|2	0|0	REPS1|REPS1	139271645|139271645	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	2.029000|2.029000	0.41098|0.41098	1.434000|1.434000	0.47414|0.47414	0.585000|0.585000	0.79938|0.79938	GCA|AGC		0.363	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3		Missense_Mutation	15	22	0	0	0	0	15	22				
GRM1	2911	broad.mit.edu	37	6	146625871	146625871	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:146625871C>A	ENST00000282753.1	+	3	1310	c.1075C>A	c.(1075-1077)Ctg>Atg	p.L359M	GRM1_ENST00000355289.4_Missense_Mutation_p.L359M|GRM1_ENST00000392299.2_Missense_Mutation_p.L359M|GRM1_ENST00000492807.2_Missense_Mutation_p.L359M|GRM1_ENST00000507907.1_Missense_Mutation_p.L359M|GRM1_ENST00000361719.2_Missense_Mutation_p.L359M			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	359					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GAAACTGAGGCTGGACACTAA	0.493																																						uc010khw.1		NA																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(1075-1077)CTG>ATG		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						127.0	109.0	115.0					6																	146625871		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146625871C>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1075C>A	6.37:g.146625871C>A	ENSP00000282753:p.Leu359Met					GRM1_uc010khv.1_Missense_Mutation_p.L359M|GRM1_uc003qll.2_Missense_Mutation_p.L359M|GRM1_uc011edz.1_Missense_Mutation_p.L359M|GRM1_uc011eea.1_Missense_Mutation_p.L359M	p.L359M	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	4	1545	+		Ovarian(120;0.0387)	359			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1075C>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522189	0.64747	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	6.06	4.29	0.51040	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	D	0.88676	0.6501	M	0.65677	2.01	0.58432	D	0.999993	D;D;D	0.76494	0.98;0.999;0.98	P;D;P	0.75020	0.891;0.985;0.844	D	0.88226	0.2900	10	0.42905	T	0.14	.	9.3145	0.37926	0.0:0.7324:0.0:0.2676	.	359;359;359	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	M	359	ENSP00000354896:L359M;ENSP00000376119:L359M;ENSP00000424095:L359M;ENSP00000282753:L359M;ENSP00000347437:L359M;ENSP00000425599:L359M	ENSP00000282753:L359M	L	+	1	2	GRM1	146667564	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.730000	0.47335	1.580000	0.49851	0.650000	0.86243	CTG		0.493	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		17	33	1	0	1.68e-08	1.99e-08	17	33				
PLEKHG1	57480	broad.mit.edu	37	6	151153189	151153189	+	Missense_Mutation	SNP	G	G	T	rs113595784	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:151153189G>T	ENST00000358517.2	+	15	3153	c.2942G>T	c.(2941-2943)cGg>cTg	p.R981L	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.R981L			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	981							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATGATGGCTCGGCAGTACAGT	0.507																																						uc003qny.1		NA																	0				ovary(2)	2						c.(2941-2943)CGG>CTG		pleckstrin homology domain containing, family G							110.0	123.0	118.0					6																	151153189		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151153189G>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2942G>T	6.37:g.151153189G>T	ENSP00000351318:p.Arg981Leu					PLEKHG1_uc011eel.1_Missense_Mutation_p.R1021L|PLEKHG1_uc011eem.1_Missense_Mutation_p.R1040L|PLEKHG1_uc003qnz.2_Missense_Mutation_p.R981L	p.R981L	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	3254	+			981					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.2942G>T	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114241	0.94339	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.29142	1.58;1.58	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.68952	2.095	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.51108	-0.8747	10	0.87932	D	0	.	20.0825	0.97783	0.0:0.0:1.0:0.0	.	788;981;981	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	L	981	ENSP00000356297:R981L;ENSP00000351318:R981L	ENSP00000351318:R981L	R	+	2	0	PLEKHG1	151194882	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	9.476000	0.97823	2.746000	0.94184	0.655000	0.94253	CGG		0.507	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			55	105	1	0	4.79e-31	6.72e-31	55	105				
SYNE1	23345	broad.mit.edu	37	6	152786476	152786476	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:152786476G>T	ENST00000367255.5	-	18	2450	c.1849C>A	c.(1849-1851)Cgc>Agc	p.R617S	SYNE1_ENST00000265368.4_Missense_Mutation_p.R617S|SYNE1_ENST00000413186.2_Missense_Mutation_p.R617S|SYNE1_ENST00000367253.4_Missense_Mutation_p.R617S|SYNE1_ENST00000423061.1_Missense_Mutation_p.R624S|SYNE1_ENST00000448038.1_Missense_Mutation_p.R624S|SYNE1_ENST00000341594.5_Missense_Mutation_p.R624S|SYNE1_ENST00000466159.2_Missense_Mutation_p.R617S|SYNE1_ENST00000367248.3_Missense_Mutation_p.R607S|SYNE1_ENST00000495090.2_Missense_Mutation_p.R184S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	617					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGCCATAGCGATCCCAGTTA	0.448										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(1849-1851)CGC>AGC		spectrin repeat containing, nuclear envelope 1							176.0	156.0	163.0					6																	152786476		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152786476G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1849C>A	6.37:g.152786476G>T	ENSP00000356224:p.Arg617Ser	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.R624S|SYNE1_uc003qou.3_Missense_Mutation_p.R617S|SYNE1_uc010kjb.1_Missense_Mutation_p.R600S|SYNE1_uc003qpa.1_Missense_Mutation_p.R617S|SYNE1_uc003qow.2_5'Flank|SYNE1_uc003qox.1_Missense_Mutation_p.R133S|SYNE1_uc003qoz.2_Missense_Mutation_p.R49S|SYNE1_uc003qoy.2_Missense_Mutation_p.R184S	p.R617S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	18	2451	-		Ovarian(120;0.0955)	617			Cytoplasmic (Potential).|HAT 1.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.1849C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745942	0.69418	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090;ENST00000466159;ENST00000537750	T;T;T;T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.79	4.84	0.62591	.	0.000000	0.56097	D	0.000022	T	0.33381	0.0861	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.978;0.965;0.973;0.993;0.978;0.987	D;P;P;P;D;P;P	0.66979	0.948;0.522;0.639;0.675;0.92;0.522;0.815	T	0.01814	-1.1268	10	0.21014	T	0.42	.	13.5618	0.61793	0.0:0.0:0.7364:0.2636	.	600;617;617;184;607;617;624	B3W695;Q8NF91;F5H4Q0;F5H422;F5GXQ8;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	S	617;624;617;624;624;617;607;617;184;617;600	ENSP00000356224:R617S;ENSP00000396024:R624S;ENSP00000265368:R617S;ENSP00000390975:R624S;ENSP00000341887:R624S;ENSP00000356222:R617S;ENSP00000356217:R607S;ENSP00000414510:R617S;ENSP00000438508:R184S;ENSP00000446021:R617S;ENSP00000441264:R600S	ENSP00000265368:R617S	R	-	1	0	SYNE1	152828169	1.000000	0.71417	0.987000	0.45799	0.961000	0.63080	3.967000	0.56802	2.746000	0.94184	0.655000	0.94253	CGC		0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		29	55	1	0	1.08e-15	1.4e-15	29	55				
ARID1B	57492	broad.mit.edu	37	6	157488191	157488191	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:157488191G>A	ENST00000350026.5	+	9	2859	c.2858G>A	c.(2857-2859)gGc>gAc	p.G953D	ARID1B_ENST00000275248.4_Missense_Mutation_p.G895D|ARID1B_ENST00000367148.1_Missense_Mutation_p.G953D|ARID1B_ENST00000346085.5_Missense_Mutation_p.G966D|ARID1B_ENST00000478761.2_3'UTR	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	953					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGTTTCCCCGGCATGAACCAG	0.537																																						uc003qqn.2		NA																	0				ovary(1)|breast(1)	2						c.(2683-2685)GGC>GAC		AT rich interactive domain 1B (SWI1-like)							215.0	206.0	209.0					6																	157488191		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157488191G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2858G>A	6.37:g.157488191G>A	ENSP00000055163:p.Gly953Asp					ARID1B_uc003qqo.2_Missense_Mutation_p.G908D|ARID1B_uc003qqp.2_Missense_Mutation_p.G895D|ARID1B_uc010kjl.2_Missense_Mutation_p.G93D	p.G895D	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	9	2836	+		Breast(66;0.000162)|Ovarian(120;0.0265)	953					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.2684G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901677	0.52227	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.25250	4.67;4.65;4.75;4.74;4.44;2.16;1.81	5.64	4.72	0.59763	.	0.204799	0.51477	D	0.000092	T	0.10121	0.0248	N	0.22421	0.69	0.44668	D	0.997656	P;P;P;P	0.49783	0.928;0.791;0.763;0.879	B;B;B;P	0.44897	0.44;0.196;0.387;0.463	T	0.04140	-1.0974	10	0.28530	T	0.3	.	10.2908	0.43594	0.0:0.1331:0.6468:0.22	.	203;953;966;895	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	D	966;953;953;895;370;422;375;20	ENSP00000344546:G966D;ENSP00000055163:G953D;ENSP00000356116:G953D;ENSP00000275248:G895D;ENSP00000412835:G422D;ENSP00000313006:G375D;ENSP00000383596:G20D	ENSP00000275248:G895D	G	+	2	0	ARID1B	157529883	1.000000	0.71417	0.976000	0.42696	0.986000	0.74619	2.809000	0.47971	2.657000	0.90304	0.655000	0.94253	GGC		0.537	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		4	239	0	0	0	0	4	239				
T	6862	broad.mit.edu	37	6	166578115	166578115	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:166578115G>A	ENST00000296946.2	-	6	1176	c.708C>T	c.(706-708)agC>agT	p.S236S	T_ENST00000366871.3_Silent_p.S236S	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	236					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CAGGTTGCTGGCTGTCTCCGG	0.418									Chordoma, Familial Clustering of																													uc003quu.1		NA																	0				ovary(1)|pancreas(1)	2						c.(706-708)AGC>AGT		transcription factor T							123.0	121.0	122.0					6																	166578115		2203	4300	6503	SO:0001819	synonymous_variant	6862	Chordoma_Familial_Clustering_of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166578115G>A	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.708C>T	6.37:g.166578115G>A						T_uc003qut.1_Silent_p.S236S|T_uc003quv.1_Silent_p.S236S	p.S236S	NM_003181	NP_003172	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	6	1201	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	236					E7ERD6|Q4KMP4	Silent	SNP	ENST00000296946.2	37	c.708C>T	CCDS5290.1																																																																																				0.418	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		29	58	0	0	0	0	29	58				
RPS6KA2	6196	broad.mit.edu	37	6	167271702	167271702	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:167271702C>A	ENST00000507747.1	-	8	479	c.480G>T	c.(478-480)aaG>aaT	p.K160N	RPS6KA2_ENST00000503859.1_Missense_Mutation_p.D37Y|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.D37Y																							TCTGCAGTGTCTTCTGTGGTG	0.443																																						uc003qvd.1		NA																	0				ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(109-111)GAC>TAC		ribosomal protein S6 kinase, 90kDa, polypeptide							267.0	213.0	232.0					6																	167271702		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:167271702C>A																												ENST00000507747.1:c.480G>T	6.37:g.167271702C>A	ENSP00000426906:p.Lys160Asn					RPS6KA2_uc003qvc.1_Missense_Mutation_p.D37Y	p.D37Y	NM_021135	NP_066958	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	2	222	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	Error:Variant_position_missing_in_Q15349_after_alignment						Missense_Mutation	SNP	ENST00000507747.1	37	c.109G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.49|12.49	1.954826|1.954826	0.34471|0.34471	.|.	.|.	ENSG00000071242|ENSG00000249141	ENST00000510118;ENST00000503859;ENST00000506565|ENST00000507747	T;T;T|.	0.70749|.	-0.49;-0.51;-0.42|.	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	.|.	.|.	.|.	.|.	T|T	0.22936|0.22936	0.0554|0.0554	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;D|.	0.71674|.	0.008;0.998|.	B;D|.	0.68353|.	0.009;0.957|.	T|T	0.11108|0.11108	-1.0601|-1.0601	9|5	0.42905|.	T|.	0.14|.	.|.	13.0924|13.0924	0.59172|0.59172	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	37;37|.	F2Z2J1;Q15349-3|.	.;.|.	Y|N	37|160	ENSP00000422435:D37Y;ENSP00000427015:D37Y;ENSP00000425148:D37Y|.	ENSP00000427015:D37Y|.	D|K	-|-	1|3	0|2	RPS6KA2|RP11-514O12.4	167191692|167191692	0.430000|0.430000	0.25538|0.25538	0.005000|0.005000	0.12908|0.12908	0.129000|0.129000	0.20672|0.20672	3.017000|3.017000	0.49615|0.49615	2.458000|2.458000	0.83093|0.83093	0.655000|0.655000	0.94253|0.94253	GAC|AAG		0.443	RP11-514O12.4-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000362905.1			10	41	1	0	3.62e-10	4.41e-10	10	41				
THBS2	7058	broad.mit.edu	37	6	169629677	169629677	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr6:169629677G>T	ENST00000366787.3	-	15	2498	c.2249C>A	c.(2248-2250)aCc>aAc	p.T750N	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	750					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CTTCTCATCGGTCACACCGTC	0.557																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NA																	0				ovary(5)	5						c.(2248-2250)ACC>AAC		thrombospondin 2 precursor							187.0	163.0	171.0					6																	169629677		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169629677G>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2249C>A	6.37:g.169629677G>T	ENSP00000355751:p.Thr750Asn						p.T750N	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	15	2497	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	750			TSP type-3 2.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.2249C>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	G	0.751	-0.772756	0.02951	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.98313	-4.86	4.51	-9.02	0.00741	.	3.335890	0.01477	U	0.016507	D	0.85575	0.5728	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.15484	0.013	D	0.86015	0.1503	10	0.20046	T	0.44	-2.0305	11.2188	0.48842	0.0:0.0856:0.3955:0.5189	.	750	P35442	TSP2_HUMAN	N	750;8	ENSP00000355751:T750N	ENSP00000355751:T750N	T	-	2	0	THBS2	169371602	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.140000	0.16056	-2.724000	0.00387	-0.302000	0.09304	ACC		0.557	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		11	100	1	0	6.4e-05	7e-05	11	100				
AMZ1	155185	broad.mit.edu	37	7	2752343	2752343	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:2752343T>C	ENST00000312371.4	+	7	1696	c.1328T>C	c.(1327-1329)tTc>tCc	p.F443S	AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	443							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		TGGGAGATGTTCACGGGCCAG	0.687																																						uc003smr.1		NA																	0					0						c.(1327-1329)TTC>TCC		archaelysin family metallopeptidase 1							39.0	39.0	39.0					7																	2752343		2202	4297	6499	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2752343T>C	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.1328T>C	7.37:g.2752343T>C	ENSP00000308149:p.Phe443Ser					AMZ1_uc003sms.1_3'UTR|AMZ1_uc011jwa.1_Missense_Mutation_p.F192S	p.F443S	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	7	1689	+		Ovarian(82;0.0779)	443					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.1328T>C	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.011049	0.54361	.	.	ENSG00000174945	ENST00000312371	T	0.37058	1.22	4.67	4.67	0.58626	.	0.000000	0.64402	D	0.000011	T	0.53449	0.1797	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.56739	-0.7929	10	0.87932	D	0	-42.6534	12.3634	0.55215	0.0:0.0:0.0:1.0	.	443	Q400G9	AMZ1_HUMAN	S	443	ENSP00000308149:F443S	ENSP00000308149:F443S	F	+	2	0	AMZ1	2718869	1.000000	0.71417	0.999000	0.59377	0.144000	0.21451	4.450000	0.60041	1.734000	0.51633	0.379000	0.24179	TTC		0.687	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		13	34	0	0	0	0	13	34				
MIOS	54468	broad.mit.edu	37	7	7636045	7636045	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:7636045G>A	ENST00000340080.4	+	11	2775	c.2354G>A	c.(2353-2355)tGt>tAt	p.C785Y	MIOS_ENST00000405785.1_Missense_Mutation_p.C785Y	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	785						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTCCTCGATGTGCGCTTTGT	0.403																																						uc003srf.2		NA																	0					0						c.(2353-2355)TGT>TAT		missing oocyte, meiosis regulator, homolog							173.0	166.0	168.0					7																	7636045		1962	4145	6107	SO:0001583	missense	54468							g.chr7:7636045G>A		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2354G>A	7.37:g.7636045G>A	ENSP00000339881:p.Cys785Tyr					MIOS_uc003srg.2_Missense_Mutation_p.C320Y|MIOS_uc010ktq.2_Missense_Mutation_p.C180Y	p.C785Y	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN			11	2662	+			785					B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.2354G>A	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509596	0.85282	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.69561	-0.41;-0.41	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.85952	0.5817	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88246	0.2913	10	0.87932	D	0	-17.9233	19.6603	0.95864	0.0:0.0:1.0:0.0	.	785;785	B4DGE7;Q9NXC5	.;MIO_HUMAN	Y	785	ENSP00000339881:C785Y;ENSP00000384088:C785Y	ENSP00000339881:C785Y	C	+	2	0	MIOS	7602570	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.441000	0.97557	2.729000	0.93468	0.467000	0.42956	TGT		0.403	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		60	96	0	0	0	0	60	96				
ITGB8	3696	broad.mit.edu	37	7	20371492	20371492	+	Silent	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:20371492A>T	ENST00000222573.4	+	1	747	c.63A>T	c.(61-63)cgA>cgT	p.R21R	CTA-293F17.1_ENST00000603156.1_RNA|CTA-293F17.1_ENST00000605357.1_RNA|ITGB8_ENST00000537992.1_Intron	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	21					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ACGACCGGCGAGGTCCCGCCT	0.557																																						uc003suu.2		NA																	0				skin(3)	3						c.(61-63)CGA>CGT		integrin, beta 8 precursor							79.0	76.0	77.0					7																	20371492		2203	4300	6503	SO:0001819	synonymous_variant	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20371492A>T		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.63A>T	7.37:g.20371492A>T						ITGB8_uc011jyh.1_Intron|ITGB8_uc003sut.2_Silent_p.R21R	p.R21R	NM_002214	NP_002205	P26012	ITB8_HUMAN			1	768	+			21					A4D133|B4DHD4	Silent	SNP	ENST00000222573.4	37	c.63A>T	CCDS5370.1																																																																																				0.557	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		23	44	0	0	0	0	23	44				
AC005013.5	0	broad.mit.edu	37	7	28995715	28995715	+	lincRNA	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:28995715C>G	ENST00000436594.1	+	0	0				TRIL_ENST00000322982.3_RNA																							CCGCGCAGCTCGCGCAGCGTG	0.711																																						uc003szt.2		NA																	0					0						c.(1948-1950)GAG>CAG		TLR4 interactor with leucine rich repeats							5.0	5.0	5.0					7																	28995715		1897	3943	5840			9865				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding	g.chr7:28995715C>G																													7.37:g.28995715C>G							p.E650Q	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN			3	2315	-			650			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000436594.1	37	c.1948G>C																																																																																					0.711	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000327953.3			2	7	0	0	0	0	2	7				
NOD1	10392	broad.mit.edu	37	7	30472736	30472736	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:30472736A>G	ENST00000222823.4	-	12	3206	c.2681T>C	c.(2680-2682)gTc>gCc	p.V894A		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	894					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CGTCTGGTTGACTTTCAACAT	0.358																																						uc003tav.2		NA																	0				ovary(1)|skin(1)	2						c.(2680-2682)GTC>GCC		nucleotide-binding oligomerization domain							138.0	122.0	128.0					7																	30472736		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30472736A>G	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2681T>C	7.37:g.30472736A>G	ENSP00000222823:p.Val894Ala						p.V894A	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			12	3204	-			894					B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.2681T>C	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.657350	0.29425	.	.	ENSG00000106100	ENST00000222823	T	0.52057	0.68	5.74	5.74	0.90152	.	0.233173	0.43260	D	0.000598	T	0.36358	0.0964	L	0.41236	1.265	0.80722	D	1	B	0.12630	0.006	B	0.11329	0.006	T	0.17992	-1.0351	10	0.08837	T	0.75	.	12.7238	0.57159	1.0:0.0:0.0:0.0	.	894	Q9Y239	NOD1_HUMAN	A	894	ENSP00000222823:V894A	ENSP00000222823:V894A	V	-	2	0	NOD1	30439261	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.572000	0.60886	2.317000	0.78254	0.460000	0.39030	GTC		0.358	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			9	46	0	0	0	0	9	46				
ADCYAP1R1	117	broad.mit.edu	37	7	31142969	31142969	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:31142969G>T	ENST00000304166.4	+	14	1454	c.1165G>T	c.(1165-1167)Ggc>Tgc	p.G389C	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.G368C|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.G445C|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.G417C	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	389					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GCTGGGGCTGGGCTCCTTCCA	0.547																																					Ovarian(44;225 1186 2158 11092)	uc003tca.1		NA																	0				ovary(1)	1						c.(1165-1167)GGC>TGC		adenylate cyclase activating polypeptide 1							100.0	93.0	95.0					7																	31142969		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31142969G>T		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.1165G>T	7.37:g.31142969G>T	ENSP00000306620:p.Gly389Cys					ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.G368C|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.G417C|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.G417C|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.G416C|ADCYAP1R1_uc003tcf.1_Missense_Mutation_p.G147C	p.G389C	NM_001118	NP_001109	P41586	PACR_HUMAN			14	1388	+			389			Helical; Name=7; (Potential).		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.1165G>T	CCDS5433.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.551703|4.551703	0.86127|0.86127	.|.	.|.	ENSG00000078549|ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489|ENST00000436116	T;T;T;T|.	0.46063|.	1.14;0.88;0.88;0.88|.	5.58|5.58	5.58|5.58	0.84498|0.84498	GPCR, family 2-like (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.80116|0.80116	0.4564|0.4564	M|M	0.85462|0.85462	2.755|2.755	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.995;0.999;0.996;0.997;0.997|.	T|T	0.81495|0.81495	-0.0907|-0.0907	10|6	0.87932|.	D|.	0|.	.|.	17.4555|17.4555	0.87606|0.87606	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	416;417;445;368;389|.	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586|.	.;.;.;.;PACR_HUMAN|.	C|V	389;368;417;445|133	ENSP00000306620:G389C;ENSP00000387335:G368C;ENSP00000379514:G417C;ENSP00000386395:G445C|.	ENSP00000306620:G389C|.	G|G	+|+	1|2	0|0	ADCYAP1R1|ADCYAP1R1	31109494|31109494	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	9.869000|9.869000	0.99810|0.99810	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GGC|GGG		0.547	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		13	67	1	0	4.38e-07	5.04e-07	13	67				
NEUROD6	63974	broad.mit.edu	37	7	31378227	31378227	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:31378227G>A	ENST00000297142.3	-	2	978	c.656C>T	c.(655-657)cCc>cTc	p.P219L		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	219					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	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(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						ATGCCCTGGGGGAGTGGTGAG	0.527																																						uc003tch.2		NA																	0				ovary(2)	2						c.(655-657)CCC>CTC		neurogenic differentiation 6							116.0	94.0	101.0					7																	31378227		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378227G>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.656C>T	7.37:g.31378227G>A	ENSP00000297142:p.Pro219Leu						p.P219L	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	1009	-			219					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.656C>T	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651881	0.67472	.	.	ENSG00000164600	ENST00000297142	T	0.69685	-0.42	5.32	5.32	0.75619	Neurogenic differentiation factor, domain of unknown function (1);	0.000000	0.85682	D	0.000000	D	0.83436	0.5254	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85680	0.1300	10	0.87932	D	0	-18.8362	19.0046	0.92844	0.0:0.0:1.0:0.0	.	219	Q96NK8	NDF6_HUMAN	L	219	ENSP00000297142:P219L	ENSP00000297142:P219L	P	-	2	0	NEUROD6	31344752	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.305000	0.78891	2.481000	0.83766	0.650000	0.86243	CCC		0.527	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		26	54	0	0	0	0	26	54				
ABCA13	154664	broad.mit.edu	37	7	48443311	48443311	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:48443311C>T	ENST00000435803.1	+	39	11929	c.11905C>T	c.(11905-11907)Cag>Tag	p.Q3969*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3969	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						AACTCAGCATCAGCACAAACA	0.478																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(11905-11907)CAG>TAG		ATP binding cassette, sub-family A (ABC1),							100.0	100.0	100.0					7																	48443311		1953	4142	6095	SO:0001587	stop_gained	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48443311C>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.11905C>T	7.37:g.48443311C>T	ENSP00000411096:p.Gln3969*					ABCA13_uc010kys.1_Nonsense_Mutation_p.Q1043*|ABCA13_uc003tos.1_Nonsense_Mutation_p.Q795*|ABCA13_uc010kyt.1_RNA	p.Q3969*	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			39	11930	+			3969			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	c.11905C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	52	19.250138	0.99917	.	.	ENSG00000179869	ENST00000435803	.	.	.	6.17	6.17	0.99709	.	0.144193	0.31897	N	0.006897	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	.	.	.	X	3969	.	ENSP00000411096:Q3969X	Q	+	1	0	ABCA13	48413857	0.101000	0.21875	0.179000	0.23059	0.236000	0.25371	2.843000	0.48238	2.941000	0.99782	0.655000	0.94253	CAG		0.478	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		24	18	0	0	0	0	24	18				
Unknown	0	broad.mit.edu	37	7	63680469	63680469	+	IGR	SNP	A	A	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:63680469A>G								GUSBP6 (69370 upstream) : ZNF679 (8382 downstream)																							AAGATAATTCATACTGGAGAG	0.408																																						uc011kdn.1		NA																	0					0						c.(1039-1041)CAT>CGT		zinc finger protein 735							48.0	55.0	53.0					7																	63680469		692	1591	2283	SO:0001628	intergenic_variant	730291				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63680469A>G																													7.37:g.63680469A>G							p.H347R	NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN			4	1040	+			347			C2H2-type 7.			Missense_Mutation	SNP		37	c.1040A>G																																																																																				0	0.408									18	31	0	0	0	0	18	31				
MLXIPL	51085	broad.mit.edu	37	7	73010505	73010505	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:73010505A>C	ENST00000313375.3	-	13	2083	c.2036T>G	c.(2035-2037)cTc>cGc	p.L679R	MLXIPL_ENST00000434326.1_Missense_Mutation_p.L585R|MLXIPL_ENST00000429400.2_Missense_Mutation_p.L679R|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L586R|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L677R|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L677R	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	679	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGGGCACTGAGTGTGCTCAC	0.627																																						uc003tyn.1		NA																	0				pancreas(1)	1						c.(2035-2037)CTC>CGC		Williams Beuren syndrome chromosome region 14							48.0	46.0	47.0					7																	73010505		2203	4300	6503	SO:0001583	missense	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73010505A>C	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2036T>G	7.37:g.73010505A>C	ENSP00000320886:p.Leu679Arg					MLXIPL_uc003tyj.1_Missense_Mutation_p.L58R|MLXIPL_uc003tyk.1_Missense_Mutation_p.L677R|MLXIPL_uc003tyl.1_Missense_Mutation_p.L677R|MLXIPL_uc003tym.1_Missense_Mutation_p.L679R|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.L585R	p.L679R	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN			13	2084	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	679					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.2036T>G	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.426401	0.83667	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	D;D;D;D;D;D	0.98649	-4.69;-5.05;-4.69;-5.05;-4.69;-4.69	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	D	0.99001	0.9659	M	0.82923	2.615	0.48571	D	0.999674	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.998	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.963;0.981	D	0.99609	1.0980	10	0.36615	T	0.2	-34.5749	13.3811	0.60768	1.0:0.0:0.0:0.0	.	586;679;679;677;677	Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;MLXPL_HUMAN;.;.;.	R	677;679;679;677;586;585	ENSP00000412330:L677R;ENSP00000406296:L679R;ENSP00000320886:L679R;ENSP00000346629:L677R;ENSP00000378616:L586R;ENSP00000392636:L585R	ENSP00000320886:L679R	L	-	2	0	MLXIPL	72648441	1.000000	0.71417	0.881000	0.34555	0.979000	0.70002	9.286000	0.95898	2.045000	0.60652	0.456000	0.33151	CTC		0.627	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		12	55	0	0	0	0	12	55				
CACNA2D1	781	broad.mit.edu	37	7	81579768	81579768	+	Silent	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:81579768G>T	ENST00000356253.5	-	39	3507	c.3252C>A	c.(3250-3252)atC>atA	p.I1084I	CACNA2D1_ENST00000535308.1_Silent_p.I284I|CACNA2D1_ENST00000356860.3_Silent_p.I1072I			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1084					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GGATTCCAATGATATACCACA	0.388																																						uc003uhr.1		NA																	0				ovary(5)|pancreas(1)	6						c.(3214-3216)ATC>ATA		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						86.0	85.0	85.0					7																	81579768		2203	4300	6503	SO:0001819	synonymous_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81579768G>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.3252C>A	7.37:g.81579768G>T						uc003uhq.1_5'Flank|CACNA2D1_uc011kgy.1_Silent_p.I284I	p.I1072I	NM_000722	NP_000713	P54289	CA2D1_HUMAN			39	3472	-			1084			Helical; (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37	c.3216C>A																																																																																					0.388	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				33	78	1	0	6.04e-23	8.26e-23	33	78				
PCLO	27445	broad.mit.edu	37	7	82785474	82785474	+	Missense_Mutation	SNP	G	G	C	rs372527626		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:82785474G>C	ENST00000333891.9	-	2	820	c.483C>G	c.(481-483)aaC>aaG	p.N161K	PCLO_ENST00000423517.2_Missense_Mutation_p.N161K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTTAAAGCGTTAACCTCTG	0.403																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(481-483)AAC>AAG		piccolo isoform 1							112.0	112.0	112.0					7																	82785474		1850	4098	5948	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82785474G>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.483C>G	7.37:g.82785474G>C	ENSP00000334319:p.Asn161Lys					PCLO_uc003uhv.2_Missense_Mutation_p.N161K	p.N161K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	772	-			161						Missense_Mutation	SNP	ENST00000333891.9	37	c.483C>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820366	0.32145	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.35973	1.28;1.3	5.63	0.684	0.18003	.	.	.	.	.	T	0.40791	0.1131	L	0.29908	0.895	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.61328	0.887;0.887	T	0.26087	-1.0113	9	0.87932	D	0	.	10.7913	0.46434	0.4524:0.0:0.5476:0.0	.	161;161	Q9Y6V0-5;Q9Y6V0-6	.;.	K	161	ENSP00000334319:N161K;ENSP00000388393:N161K	ENSP00000334319:N161K	N	-	3	2	PCLO	82623410	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	0.481000	0.22260	0.066000	0.16515	-0.126000	0.14955	AAC		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		32	73	0	0	0	0	32	73				
SAMD9	54809	broad.mit.edu	37	7	92732854	92732854	+	Missense_Mutation	SNP	C	C	T	rs534758372		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:92732854C>T	ENST00000379958.2	-	3	2826	c.2557G>A	c.(2557-2559)Gta>Ata	p.V853I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	853						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCTGTATTACGGCAATACTG	0.333													c|||	1	0.000199681	0.0	0.0	5008	,	,		18415	0.0		0.0	False		,,,				2504	0.001					uc003umf.2		NA																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(2557-2559)GTA>ATA		sterile alpha motif domain containing 9							63.0	61.0	62.0					7																	92732854		2203	4297	6500	SO:0001583	missense	54809					cytoplasm		g.chr7:92732854C>T	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2557G>A	7.37:g.92732854C>T	ENSP00000369292:p.Val853Ile					SAMD9_uc003umg.2_Missense_Mutation_p.V853I	p.V853I	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	2813	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		853					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.2557G>A	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.868133	0.00547	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.81247	-1.47;-1.47	4.47	-2.16	0.07080	.	0.393244	0.18749	U	0.132240	T	0.44685	0.1305	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39210	-0.9625	10	0.33141	T	0.24	-0.0021	1.7302	0.02930	0.308:0.2526:0.3284:0.111	.	853	Q5K651	SAMD9_HUMAN	I	853	ENSP00000369292:V853I;ENSP00000414529:V853I	ENSP00000369292:V853I	V	-	1	0	SAMD9	92570790	0.005000	0.15991	0.001000	0.08648	0.040000	0.13550	0.026000	0.13599	-0.303000	0.08856	-0.859000	0.03014	GTA		0.333	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		24	93	0	0	0	0	24	93				
DYNC1I1	1780	broad.mit.edu	37	7	95664996	95664996	+	Silent	SNP	G	G	A	rs142103982		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:95664996G>A	ENST00000324972.6	+	13	1540	c.1347G>A	c.(1345-1347)acG>acA	p.T449T	DYNC1I1_ENST00000457059.1_Silent_p.T432T|DYNC1I1_ENST00000359388.4_Silent_p.T412T|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000537881.1_Silent_p.T412T|DYNC1I1_ENST00000437599.1_Silent_p.T429T|DYNC1I1_ENST00000447467.2_Silent_p.T432T	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	449					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.T449T(2)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTTTCCCAACGGGAGACGTCA	0.473																																						uc003uoc.3		NA																	2	Substitution - coding silent(2)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	ovary(3)|kidney(1)	4						c.(1345-1347)ACG>ACA		dynein, cytoplasmic 1, intermediate chain 1		G	,,	1,4405	2.1+/-5.4	0,1,2202	299.0	241.0	261.0		1296,1236,1347	-2.7	0.4	7	dbSNP_134	261	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	DYNC1I1	NM_001135556.1,NM_001135557.1,NM_004411.4	,,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,,	432/629,412/609,449/646	95664996	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95664996G>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1347G>A	7.37:g.95664996G>A						DYNC1I1_uc003uod.3_Silent_p.T432T|DYNC1I1_uc003uob.2_Silent_p.T412T|DYNC1I1_uc003uoe.3_Silent_p.T429T|DYNC1I1_uc010lfl.2_Silent_p.T438T	p.T449T	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		13	1624	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		449			WD 4.		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	c.1347G>A	CCDS5644.1																																																																																				0.473	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		50	138	0	0	0	0	50	138				
WNT2	7472	broad.mit.edu	37	7	116918348	116918348	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:116918348G>T	ENST00000265441.3	-	5	1243	c.944C>A	c.(943-945)aCc>aAc	p.T315N		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	315					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GACATGGGAGGTGTCGTAGCC	0.602																																						uc003viz.2		NA																	0				breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7						c.(943-945)ACC>AAC		wingless-type MMTV integration site family							109.0	77.0	88.0					7																	116918348		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116918348G>T	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.944C>A	7.37:g.116918348G>T	ENSP00000265441:p.Thr315Asn					WNT2_uc003vja.2_Missense_Mutation_p.T219N	p.T315N	NM_003391	NP_003382	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	5	1244	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		315					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.944C>A	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821155	0.90873	.	.	ENSG00000105989	ENST00000265441	T	0.77229	-1.08	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.91898	0.7435	H	0.94542	3.55	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.93402	0.6761	10	0.87932	D	0	.	19.2073	0.93736	0.0:0.0:1.0:0.0	.	315;315	A4D0V1;P09544	.;WNT2_HUMAN	N	315	ENSP00000265441:T315N	ENSP00000265441:T315N	T	-	2	0	WNT2	116705584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.863000	0.87023	2.780000	0.95670	0.655000	0.94253	ACC		0.602	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		32	24	1	0	2.61e-14	3.36e-14	32	24				
GPR37	2861	broad.mit.edu	37	7	124387352	124387352	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:124387352T>A	ENST00000303921.2	-	2	1719	c.1069A>T	c.(1069-1071)Ata>Tta	p.I357L		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	357					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAGCGGTCTATGCACAGAGCA	0.493																																						uc003vli.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1069-1071)ATA>TTA		G protein-coupled receptor 37 precursor							67.0	67.0	67.0					7																	124387352		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124387352T>A		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1069A>T	7.37:g.124387352T>A	ENSP00000306449:p.Ile357Leu						p.I357L	NM_005302	NP_005293	O15354	GPR37_HUMAN			2	1720	-			357			Cytoplasmic (Potential).		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.1069A>T	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.662628	0.67700	.	.	ENSG00000170775	ENST00000303921	T	0.36340	1.26	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.46112	0.1376	L	0.43598	1.365	0.48762	D	0.9997	P	0.49696	0.927	P	0.54664	0.758	T	0.35822	-0.9773	10	0.48119	T	0.1	-17.9879	15.0346	0.71734	0.0:0.0:0.0:1.0	.	357	O15354	GPR37_HUMAN	L	357	ENSP00000306449:I357L	ENSP00000306449:I357L	I	-	1	0	GPR37	124174588	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	6.186000	0.72026	2.148000	0.66965	0.460000	0.39030	ATA		0.493	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		13	66	0	0	0	0	13	66				
GRM8	2918	broad.mit.edu	37	7	126410105	126410105	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:126410105C>G	ENST00000339582.2	-	7	1979	c.1171G>C	c.(1171-1173)Gct>Cct	p.A391P	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.A391P|GRM8_ENST00000405249.1_Missense_Mutation_p.A391P|GRM8_ENST00000444921.2_Missense_Mutation_p.A391P			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	391					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)				GAATCCCGAGCAATTCGCTCC	0.388										HNSCC(24;0.065)																												uc003vlr.2		NA																	0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1171-1173)GCT>CCT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						66.0	58.0	60.0					7																	126410105		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126410105C>G		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.1171G>C	7.37:g.126410105C>G	ENSP00000344173:p.Ala391Pro	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.A391P|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.A112P	p.A391P	NM_000845	NP_000836	O00222	GRM8_HUMAN			6	1482	-		Prostate(267;0.186)	391			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1171G>C	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933294	0.52866	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.058406	0.64402	D	0.000003	T	0.79610	0.4475	N	0.16743	0.435	0.54753	D	0.999986	P;P;B	0.44090	0.566;0.826;0.002	B;B;B	0.42692	0.395;0.341;0.006	T	0.81566	-0.0874	10	0.52906	T	0.07	.	19.2147	0.93772	0.0:1.0:0.0:0.0	.	391;391;391	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	P	391	ENSP00000344173:A391P;ENSP00000409790:A391P;ENSP00000351142:A391P;ENSP00000385731:A391P	ENSP00000344173:A391P	A	-	1	0	GRM8	126197341	1.000000	0.71417	0.999000	0.59377	0.227000	0.25037	7.814000	0.86154	2.769000	0.95229	0.655000	0.94253	GCT		0.388	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			12	18	0	0	0	0	12	18				
OR2A12	346525	broad.mit.edu	37	7	143792691	143792691	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:143792691G>T	ENST00000408949.2	+	1	551	c.491G>T	c.(490-492)aGg>aTg	p.R164M		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CTTATTCTGAGGCTGCCTTTT	0.458																																						uc011kty.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(490-492)AGG>ATG		olfactory receptor, family 2, subfamily A,							166.0	155.0	158.0					7																	143792691		1982	4165	6147	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792691G>T		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.491G>T	7.37:g.143792691G>T	ENSP00000386174:p.Arg164Met						p.R164M	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			1	491	+	Melanoma(164;0.0783)		164			Extracellular (Potential).		Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.491G>T	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	G	8.563	0.878271	0.17395	.	.	ENSG00000221858	ENST00000408949	T	0.00183	8.6	4.23	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00384	0.0012	M	0.64630	1.985	0.09310	N	1	D	0.69078	0.997	D	0.73708	0.981	T	0.52253	-0.8600	9	0.56958	D	0.05	-5.8627	4.2461	0.10672	0.2093:0.1926:0.5981:0.0	.	164	Q8NGT7	O2A12_HUMAN	M	164	ENSP00000386174:R164M	ENSP00000386174:R164M	R	+	2	0	OR2A12	143423624	0.001000	0.12720	0.007000	0.13788	0.024000	0.10985	0.518000	0.22847	0.416000	0.25844	-0.430000	0.05897	AGG		0.458	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			55	74	1	0	1.46e-32	2.06e-32	55	74				
CNTNAP2	26047	broad.mit.edu	37	7	146536965	146536965	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:146536965G>T	ENST00000361727.3	+	3	887	c.371G>T	c.(370-372)tGg>tTg	p.W124L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	124	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGGAGAAACTGGAAACCCTAT	0.443										HNSCC(39;0.1)																												uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(370-372)TGG>TTG		cell recognition molecule Caspr2 precursor							89.0	85.0	86.0					7																	146536965		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146536965G>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.371G>T	7.37:g.146536965G>T	ENSP00000354778:p.Trp124Leu	HNSCC(39;0.1)					p.W124L	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		3	887	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	124			F5/8 type C.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.371G>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833602	0.91036	.	.	ENSG00000174469	ENST00000361727	D	0.99571	-6.19	5.83	5.83	0.93111	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.56097	D	0.000032	D	0.99732	0.9895	M	0.92604	3.325	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.97685	1.0175	10	0.87932	D	0	.	18.6885	0.91574	0.0:0.0:1.0:0.0	.	124	Q9UHC6	CNTP2_HUMAN	L	124	ENSP00000354778:W124L	ENSP00000354778:W124L	W	+	2	0	CNTNAP2	146167898	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	9.869000	0.99810	2.760000	0.94817	0.650000	0.86243	TGG		0.443	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			19	34	1	0	9.96e-16	1.29e-15	19	34				
CNTNAP2	26047	broad.mit.edu	37	7	147183129	147183129	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:147183129C>A	ENST00000361727.3	+	11	2289	c.1773C>A	c.(1771-1773)caC>caA	p.H591Q		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	591	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCACCTGCCACAACTGTGAGT	0.458										HNSCC(39;0.1)																												uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1771-1773)CAC>CAA		cell recognition molecule Caspr2 precursor							96.0	90.0	92.0					7																	147183129		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147183129C>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1773C>A	7.37:g.147183129C>A	ENSP00000354778:p.His591Gln	HNSCC(39;0.1)					p.H591Q	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		11	2289	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	591			EGF-like 1.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1773C>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645751	0.67358	.	.	ENSG00000174469	ENST00000361727	T	0.14640	2.49	5.89	3.87	0.44632	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000002	T	0.12050	0.0293	N	0.05592	-0.015	0.80722	D	1	P	0.50443	0.935	P	0.55011	0.766	T	0.09907	-1.0653	10	0.66056	D	0.02	.	7.4992	0.27507	0.0:0.7357:0.0:0.2643	.	591	Q9UHC6	CNTP2_HUMAN	Q	591	ENSP00000354778:H591Q	ENSP00000354778:H591Q	H	+	3	2	CNTNAP2	146814062	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.882000	0.28186	1.492000	0.48499	0.655000	0.94253	CAC		0.458	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			19	38	1	0	3.52e-12	4.39e-12	19	38				
CNTNAP2	26047	broad.mit.edu	37	7	147869371	147869371	+	Silent	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:147869371C>A	ENST00000361727.3	+	18	3327	c.2811C>A	c.(2809-2811)atC>atA	p.I937I	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	937	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGGCTGCATCCGCTCCTTGA	0.537										HNSCC(39;0.1)																												uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2809-2811)ATC>ATA		cell recognition molecule Caspr2 precursor							67.0	66.0	67.0					7																	147869371		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147869371C>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2811C>A	7.37:g.147869371C>A		HNSCC(39;0.1)					p.I937I	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		18	3327	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	937			Laminin G-like 3.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.2811C>A	CCDS5889.1																																																																																				0.537	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			23	49	1	0	1.64e-13	2.09e-13	23	49				
SSPO	23145	broad.mit.edu	37	7	149474083	149474083	+	RNA	SNP	G	G	T	rs529229055		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:149474083G>T	ENST00000378016.2	+	0	293							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCCAGGCTGGGGGGGCGCC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		16776	0.001		0.0	False		,,,				2504	0.0					uc010lpk.2		NA																	0					0						c.(292-294)TGG>TTG		SCO-spondin precursor							44.0	49.0	47.0					7																	149474083		1945	4125	6070			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149474083G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149474083G>T						SSPO_uc010lpl.1_Intron	p.W98L	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		3	293	+	Melanoma(164;0.165)|Ovarian(565;0.177)		98			EMI.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.293G>T																																																																																					0.622	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				12	54	1	0	1.05e-09	1.27e-09	12	54				
CRYGN	155051	broad.mit.edu	37	7	151133382	151133382	+	Silent	SNP	G	G	A	rs113942095	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:151133382G>A	ENST00000337323.2	-	3	426	c.300C>T	c.(298-300)ttC>ttT	p.F100F	MIR3907_ENST00000579424.1_RNA|CRYGN_ENST00000476631.1_5'UTR|CRYGN_ENST00000491928.1_Intron|RP4-555L14.4_ENST00000465549.1_RNA	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	100	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAACCCTCGAAGATTTCTA	0.537													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		17850	0.0		0.0	False		,,,				2504	0.0					uc003wke.2		NA																	0					0						c.(298-300)TTC>TTT		gammaN-crystallin		G		8,4398	14.3+/-33.2	0,8,2195	69.0	66.0	67.0		300	2.0	1.0	7	dbSNP_132	67	0,8600		0,0,4300	no	coding-synonymous	CRYGN	NM_144727.1		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		100/183	151133382	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	155051							g.chr7:151133382G>A	AF445455	CCDS5926.1	7q36.1	2003-02-25			ENSG00000127377	ENSG00000127377			20458	protein-coding gene	gene with protein product		609603					Standard	NM_144727		Approved		uc003wke.3	Q8WXF5	OTTHUMG00000157353	ENST00000337323.2:c.300C>T	7.37:g.151133382G>A						CRYGN_uc003wkf.2_Intron|CRYGN_uc003wkg.2_RNA|CRYGN_uc010lqd.1_RNA	p.F100F	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	396	-			100			Beta/gamma crystallin 'Greek key' 3.		Q496G6	Silent	SNP	ENST00000337323.2	37	c.300C>T	CCDS5926.1																																																																																				0.537	CRYGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348553.1			11	24	0	0	0	0	11	24				
FAM160B2	64760	broad.mit.edu	37	8	21960044	21960044	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:21960044C>T	ENST00000289921.7	+	16	2044	c.1998C>T	c.(1996-1998)atC>atT	p.I666I		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	666										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						TGTAGGTGATCGGGGACTTGA	0.617																																						uc011kyx.1		NA																	0					0						c.(1996-1998)ATC>ATT		retinoic acid induced 16																																				SO:0001819	synonymous_variant	64760							g.chr8:21960044C>T	AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"""retinoic acid induced 16"""	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.1998C>T	8.37:g.21960044C>T						FAM160B2_uc011kyy.1_RNA	p.I666I	NM_022749	NP_073586	Q86V87	F16B2_HUMAN			16	2049	+			666					B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Silent	SNP	ENST00000289921.7	37	c.1998C>T	CCDS6021.2																																																																																				0.617	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2			2	0	0	0	0	0	2	0				
TRIM35	23087	broad.mit.edu	37	8	27145527	27145527	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:27145527G>A	ENST00000305364.4	-	6	1105	c.1022C>T	c.(1021-1023)tCg>tTg	p.S341L	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	341	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GCAGGGCGCCGAGGAGAAGCG	0.682																																						uc003xfl.1		NA																	0					0						c.(1021-1023)TCG>TTG		tripartite motif-containing 35 isoform 2							32.0	36.0	35.0					8																	27145527		2203	4300	6503	SO:0001583	missense	23087				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding	g.chr8:27145527G>A	AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16285	protein-coding gene	gene with protein product			"""tripartite motif-containing 35"""			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.1022C>T	8.37:g.27145527G>A	ENSP00000301924:p.Ser341Leu					TRIM35_uc010lup.1_3'UTR	p.S341L	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)	6	1104	-		Ovarian(32;2.61e-05)	341			B30.2/SPRY.		Q86XQ0|Q8WVA4	Missense_Mutation	SNP	ENST00000305364.4	37	c.1022C>T	CCDS6056.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222991	0.79464	.	.	ENSG00000104228	ENST00000305364;ENST00000380544	T	0.11712	2.75	5.58	5.58	0.84498	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.56097	D	0.000021	T	0.08891	0.0220	L	0.39397	1.21	0.80722	D	1	P	0.49090	0.919	B	0.38880	0.284	T	0.23190	-1.0195	10	0.08381	T	0.77	.	15.0751	0.72071	0.0:0.0:1.0:0.0	.	341	Q9UPQ4	TRI35_HUMAN	L	341	ENSP00000301924:S341L	ENSP00000301924:S341L	S	-	2	0	TRIM35	27201444	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.819000	0.55686	2.630000	0.89119	0.491000	0.48974	TCG		0.682	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219848.2	NM_171982		8	47	0	0	0	0	8	47				
CCDC25	55246	broad.mit.edu	37	8	27606107	27606107	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:27606107T>C	ENST00000356537.4	-	6	346	c.253A>G	c.(253-255)Atg>Gtg	p.M85V	CCDC25_ENST00000539095.1_Missense_Mutation_p.M17V|RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Missense_Mutation_p.M17V	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	85						extracellular vesicular exosome (GO:0070062)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		ACGTTGTTCATCTTGCAGCCT	0.488																																						uc003xgc.2		NA																	0					0						c.(253-255)ATG>GTG		coiled-coil domain containing 25							171.0	145.0	154.0					8																	27606107		2203	4300	6503	SO:0001583	missense	55246							g.chr8:27606107T>C	AK001715	CCDS6062.2	8p21.1	2006-09-20			ENSG00000147419	ENSG00000147419			25591	protein-coding gene	gene with protein product						12477932	Standard	NM_018246		Approved	FLJ10853	uc003xgc.3	Q86WR0	OTTHUMG00000132173	ENST00000356537.4:c.253A>G	8.37:g.27606107T>C	ENSP00000348933:p.Met85Val					CCDC25_uc003xgd.2_Missense_Mutation_p.M17V|CCDC25_uc011lan.1_Intron|CCDC25_uc011lao.1_Intron|CCDC25_uc003xge.2_Intron|CCDC25_uc003xgf.1_RNA	p.M85V	NM_018246	NP_060716	Q86WR0	CCD25_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)	6	366	-		Ovarian(32;0.000953)	85					Q0P663|Q96SI2|Q9NV98	Missense_Mutation	SNP	ENST00000356537.4	37	c.253A>G	CCDS6062.2	.	.	.	.	.	.	.	.	.	.	T	11.23	1.578734	0.28180	.	.	ENSG00000147419	ENST00000356537;ENST00000539095;ENST00000522915	.	.	.	5.95	5.95	0.96441	Domain of unknown function DUF814 (1);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.63208	1.945	0.58432	D	0.999999	P	0.38617	0.64	B	0.40602	0.334	T	0.54302	-0.8314	9	0.02654	T	1	-27.5695	14.3758	0.66874	0.0:0.0:0.0:1.0	.	85	Q86WR0	CCD25_HUMAN	V	85;17;17	.	ENSP00000348933:M85V	M	-	1	0	CCDC25	27662026	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.255000	0.78338	2.279000	0.76181	0.533000	0.62120	ATG		0.488	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255224.1	NM_018246		18	111	0	0	0	0	18	111				
FUT10	84750	broad.mit.edu	37	8	33310959	33310959	+	Missense_Mutation	SNP	T	T	C	rs139365562		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:33310959T>C	ENST00000327671.5	-	3	782	c.151A>G	c.(151-153)Aaa>Gaa	p.K51E	FUT10_ENST00000524021.1_Missense_Mutation_p.K23E|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000518672.1_Missense_Mutation_p.K23E|FUT10_ENST00000335589.3_5'UTR	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	51					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TCCTCCATTTTTGTATGTCCA	0.378																																						uc003xje.2		NA																	0				ovary(1)|pancreas(1)	2						c.(151-153)AAA>GAA		fucosyltransferase 10							112.0	111.0	111.0					8																	33310959		2203	4300	6503	SO:0001583	missense	84750				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr8:33310959T>C	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.151A>G	8.37:g.33310959T>C	ENSP00000332757:p.Lys51Glu					FUT10_uc003xjc.2_Missense_Mutation_p.K58E|FUT10_uc003xjd.2_Missense_Mutation_p.K23E|FUT10_uc011lbi.1_Missense_Mutation_p.K101E|FUT10_uc003xjf.2_5'UTR|FUT10_uc003xjg.2_Missense_Mutation_p.K23E|FUT10_uc003xjh.2_Missense_Mutation_p.K51E|FUT10_uc003xji.1_Missense_Mutation_p.K51E	p.K51E	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)	3	507	-			51			Lumenal (Potential).		A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	c.151A>G	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.762172	0.31228	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021	T;T;T	0.39229	1.9;1.09;1.09	5.82	-2.29	0.06805	.	1.799750	0.02282	N	0.069517	T	0.28300	0.0699	N	0.21448	0.665	0.09310	N	0.999995	B;B;B;B;B;B	0.12630	0.006;0.003;0.0;0.001;0.001;0.003	B;B;B;B;B;B	0.12156	0.007;0.005;0.0;0.002;0.003;0.005	T	0.13176	-1.0519	10	0.17832	T	0.49	-2.728	8.2785	0.31887	0.0:0.5062:0.1454:0.3484	.	101;93;51;23;51;93	B4E056;B4DLS4;Q6P4F1-5;Q6P4F1-4;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	E	51;93;23;23	ENSP00000332757:K51E;ENSP00000430428:K23E;ENSP00000429870:K23E	ENSP00000332757:K51E	K	-	1	0	FUT10	33430501	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	0.008000	0.13197	-0.659000	0.05359	-0.256000	0.11100	AAA		0.378	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		13	75	0	0	0	0	13	75				
CHRNA6	8973	broad.mit.edu	37	8	42620299	42620299	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:42620299G>C	ENST00000276410.2	-	2	483	c.128C>G	c.(127-129)tCt>tGt	p.S43C	CHRNA6_ENST00000530869.1_5'UTR|CHRNA6_ENST00000534622.1_Missense_Mutation_p.S43C	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	43					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	GTTGTAATGAGAAAACAGTTT	0.557																																						uc003xpj.2		NA																	0					0						c.(127-129)TCT>TGT		cholinergic receptor, nicotinic, alpha 6							190.0	169.0	176.0					8																	42620299		2203	4300	6503	SO:0001583	missense	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42620299G>C	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.128C>G	8.37:g.42620299G>C	ENSP00000276410:p.Ser43Cys					CHRNA6_uc011lcw.1_Missense_Mutation_p.S43C	p.S43C	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		2	174	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	43			Extracellular.		B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	c.128C>G	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200541	0.38905	.	.	ENSG00000147434	ENST00000276410;ENST00000534622	T;T	0.80480	-1.38;-1.38	5.31	3.51	0.40186	Neurotransmitter-gated ion-channel ligand-binding (3);	1.285670	0.05916	U	0.632615	D	0.86079	0.5847	M	0.67700	2.07	0.09310	N	1	P;P	0.48911	0.657;0.917	P;P	0.55545	0.684;0.778	T	0.68610	-0.5363	10	0.87932	D	0	.	7.9752	0.30151	0.1436:0.0:0.7198:0.1366	.	43;43	B4DQH1;Q15825	.;ACHA6_HUMAN	C	43	ENSP00000276410:S43C;ENSP00000433871:S43C	ENSP00000276410:S43C	S	-	2	0	CHRNA6	42739456	0.000000	0.05858	0.011000	0.14972	0.303000	0.27691	0.321000	0.19558	0.722000	0.32252	0.655000	0.94253	TCT		0.557	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			22	106	0	0	0	0	22	106				
MOS	4342	broad.mit.edu	37	8	57025647	57025647	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:57025647G>C	ENST00000311923.1	-	1	894	c.895C>G	c.(895-897)Ctc>Gtc	p.L299V		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	299	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCAGCGGAGAGGGACGGGCGC	0.687																																					Esophageal Squamous(124;373 2870 4778)	uc011leb.1		NA																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(895-897)CTC>GTC		v-mos Moloney murine sarcoma viral oncogene							33.0	33.0	33.0					8																	57025647		2203	4300	6503	SO:0001583	missense	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57025647G>C		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.895C>G	8.37:g.57025647G>C	ENSP00000310722:p.Leu299Val						p.L299V	NM_005372	NP_005363	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	895	-			299			Protein kinase.		Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	c.895C>G	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937387	0.73557	.	.	ENSG00000172680	ENST00000311923	D	0.93604	-3.25	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.396787	0.24422	N	0.038664	D	0.93255	0.7851	N	0.17278	0.47	0.34388	D	0.693886	D	0.61080	0.989	P	0.60117	0.869	D	0.95583	0.8648	10	0.87932	D	0	.	20.0537	0.97638	0.0:0.0:1.0:0.0	.	299	P00540	MOS_HUMAN	V	299	ENSP00000310722:L299V	ENSP00000310722:L299V	L	-	1	0	MOS	57188201	0.990000	0.36364	0.088000	0.20740	0.170000	0.22686	3.099000	0.50267	2.758000	0.94735	0.561000	0.74099	CTC		0.687	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		13	26	0	0	0	0	13	26				
ZFHX4	79776	broad.mit.edu	37	8	77766927	77766927	+	Silent	SNP	C	C	T	rs543313918		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:77766927C>T	ENST00000521891.2	+	10	8218	c.7770C>T	c.(7768-7770)tgC>tgT	p.C2590C	ZFHX4_ENST00000050961.6_Silent_p.C2545C|ZFHX4_ENST00000455469.2_Silent_p.C2545C|ZFHX4_ENST00000518282.1_Silent_p.C2564C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2545					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATAATAATTGCAGTGAAAAAG	0.473										HNSCC(33;0.089)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		18911	0.0		0.0	False		,,,				2504	0.0					uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7633-7635)TGC>TGT		zinc finger homeodomain 4							48.0	48.0	48.0					8																	77766927		1916	4115	6031	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766927C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7770C>T	8.37:g.77766927C>T		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.C2590C|ZFHX4_uc003yaw.1_Silent_p.C2545C	p.C2545C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8022	+			2545					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.7635C>T	CCDS47878.2																																																																																				0.473	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		10	24	0	0	0	0	10	24				
LRRCC1	85444	broad.mit.edu	37	8	86047139	86047139	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:86047139A>T	ENST00000360375.3	+	13	2175	c.2026A>T	c.(2026-2028)Att>Ttt	p.I676F	LRRCC1_ENST00000414626.2_Missense_Mutation_p.I656F	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	676					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ACATGCTCTTATTTGGGCTCA	0.313																																						uc003ycw.2		NA																	0					0						c.(2026-2028)ATT>TTT		sodium channel associated protein 2 isoform a							72.0	70.0	71.0					8																	86047139		1819	4070	5889	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86047139A>T	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2026A>T	8.37:g.86047139A>T	ENSP00000353538:p.Ile676Phe					LRRCC1_uc010maa.1_Missense_Mutation_p.I377F|LRRCC1_uc003ycx.2_Missense_Mutation_p.I583F|LRRCC1_uc003ycy.2_Missense_Mutation_p.I656F	p.I676F	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			13	2180	+			676					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.2026A>T	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	A	5.941	0.357631	0.11239	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.32023	1.47;1.47	5.85	2.8	0.32819	.	0.410909	0.17841	N	0.160182	T	0.14485	0.0350	N	0.08118	0	0.33354	D	0.571446	B;B;B;B	0.10296	0.003;0.001;0.003;0.001	B;B;B;B	0.08055	0.002;0.002;0.003;0.003	T	0.08249	-1.0731	10	0.54805	T	0.06	-5.7689	5.8941	0.18929	0.2479:0.0:0.5896:0.1625	.	583;656;583;676	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	F	676;656	ENSP00000353538:I676F;ENSP00000394695:I656F	ENSP00000353538:I676F	I	+	1	0	LRRCC1	86234391	0.997000	0.39634	1.000000	0.80357	0.967000	0.64934	0.872000	0.28037	0.254000	0.21573	-0.290000	0.09829	ATT		0.313	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		17	53	0	0	0	0	17	53				
UBR5	51366	broad.mit.edu	37	8	103373366	103373366	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:103373366G>A	ENST00000520539.1	-	3	782	c.176C>T	c.(175-177)gCc>gTc	p.A59V	UBR5_ENST00000521922.1_Missense_Mutation_p.A59V|UBR5_ENST00000220959.4_Missense_Mutation_p.A59V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	59					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AAGAAGAAAGGCAGCATGATT	0.333																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(175-177)GCC>GTC		ubiquitin protein ligase E3 component n-recognin							71.0	70.0	70.0					8																	103373366		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103373366G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.176C>T	8.37:g.103373366G>A	ENSP00000429084:p.Ala59Val					UBR5_uc003yks.1_Missense_Mutation_p.A59V	p.A59V	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		3	209	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		59					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.176C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648743	0.67358	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.55588	0.51;0.51;0.51	5.74	5.74	0.90152	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.067870	0.64402	D	0.000017	T	0.42653	0.1212	N	0.25485	0.75	0.49051	D	0.99974	B;B	0.31100	0.308;0.308	B;B	0.23018	0.043;0.043	T	0.30387	-0.9980	10	0.46703	T	0.11	.	19.9265	0.97104	0.0:0.0:1.0:0.0	.	59;59	E7EMW7;O95071	.;UBR5_HUMAN	V	59	ENSP00000429084:A59V;ENSP00000220959:A59V;ENSP00000427819:A59V	ENSP00000220959:A59V	A	-	2	0	UBR5	103442542	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.934000	0.75880	2.723000	0.93209	0.591000	0.81541	GCC		0.333	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		9	44	0	0	0	0	9	44				
PKHD1L1	93035	broad.mit.edu	37	8	110488740	110488740	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:110488740G>A	ENST00000378402.5	+	52	8865	c.8761G>A	c.(8761-8763)Gaa>Aaa	p.E2921K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2921					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTATAGGAAGAAGACTATGT	0.259										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(8761-8763)GAA>AAA		fibrocystin L precursor							23.0	22.0	22.0					8																	110488740		1784	4034	5818	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110488740G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8761G>A	8.37:g.110488740G>A	ENSP00000367655:p.Glu2921Lys	HNSCC(38;0.096)					p.E2921K	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		52	8865	+			2921			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.8761G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794423	0.50102	.	.	ENSG00000205038	ENST00000378402	D	0.85556	-2.0	5.84	4.96	0.65561	.	0.061993	0.64402	D	0.000005	T	0.77143	0.4087	L	0.43152	1.355	0.28845	N	0.896387	B	0.23490	0.086	B	0.24394	0.053	T	0.63060	-0.6721	10	0.10902	T	0.67	.	9.9383	0.41565	0.0:0.1508:0.6926:0.1565	.	2921	Q86WI1	PKHL1_HUMAN	K	2921	ENSP00000367655:E2921K	ENSP00000367655:E2921K	E	+	1	0	PKHD1L1	110557916	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	4.718000	0.61930	1.472000	0.48140	0.484000	0.47621	GAA		0.259	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		3	4	0	0	0	0	3	4				
RAD21	5885	broad.mit.edu	37	8	117866561	117866561	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:117866561T>A	ENST00000297338.2	-	9	1371	c.1084A>T	c.(1084-1086)Atg>Ttg	p.M362L	RAD21_ENST00000523547.1_5'Flank|RAD21_ENST00000523986.1_5'Flank|RAD21_ENST00000518055.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	362	Interaction with STAG1.|Interaction with WAPAL and PDS5B.				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)		p.M362L(1)		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)					TCTTTCCACATCATCAATTTC	0.383																																						uc003yod.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	lung(1)|skin(1)	2						c.(1084-1086)ATG>TTG		RAD21 homolog							113.0	113.0	113.0					8																	117866561		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.chr8:117866561T>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.1084A>T	8.37:g.117866561T>A	ENSP00000297338:p.Met362Leu						p.M362L	NM_006265	NP_006256	O60216	RAD21_HUMAN			9	1372	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		362			Interaction with WAPAL and PDS5B.|Interaction with STAG1.		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.1084A>T	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	T	9.386	1.074311	0.20227	.	.	ENSG00000164754	ENST00000297338	T	0.74209	-0.82	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.78972	0.4368	M	0.66939	2.045	0.80722	D	1	P	0.35745	0.518	P	0.47827	0.558	T	0.74038	-0.3793	10	0.11182	T	0.66	-1.4875	15.8526	0.78943	0.0:0.0:0.0:1.0	.	362	O60216	RAD21_HUMAN	L	362	ENSP00000297338:M362L	ENSP00000297338:M362L	M	-	1	0	RAD21	117935742	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.040000	0.89188	2.156000	0.67533	0.377000	0.23210	ATG		0.383	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		19	73	0	0	0	0	19	73				
ZNF696	79943	broad.mit.edu	37	8	144378762	144378762	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:144378762C>A	ENST00000330143.3	+	3	1326	c.917C>A	c.(916-918)tCc>tAc	p.S306Y		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGCCGCAGCTCCTTCCTCCGC	0.731																																						uc003yxy.3		NA																	0					0						c.(916-918)TCC>TAC		zinc finger protein 696							7.0	10.0	9.0					8																	144378762		1914	3855	5769	SO:0001583	missense	79943				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144378762C>A	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"""Zinc fingers, C2H2-type"""	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.917C>A	8.37:g.144378762C>A	ENSP00000328515:p.Ser306Tyr						p.S306Y	NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		3	1326	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		306			C2H2-type 7.		A0AVE2	Missense_Mutation	SNP	ENST00000330143.3	37	c.917C>A	CCDS6399.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137016	0.56936	.	.	ENSG00000185730	ENST00000330143	T	0.18502	2.21	3.2	2.3	0.28687	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26231	0.0640	M	0.81112	2.525	0.39924	D	0.97419	D	0.57571	0.98	P	0.48189	0.57	T	0.09530	-1.0670	8	.	.	.	.	8.0845	0.30765	0.0:0.8719:0.0:0.1281	.	306	Q9H7X3	ZN696_HUMAN	Y	306	ENSP00000328515:S306Y	.	S	+	2	0	ZNF696	144450137	0.000000	0.05858	0.999000	0.59377	0.902000	0.53008	-0.216000	0.09266	0.665000	0.31066	0.551000	0.68910	TCC		0.731	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		3	10	1	0	0.004672	0.0048978	3	10				
CDKN2A	1029	broad.mit.edu	37	9	21970900	21970900	+	Splice_Site	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:21970900C>A	ENST00000304494.5	-	2	728		c.e2+1		CDKN2A_ENST00000497750.1_Missense_Mutation_p.G102V|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000579755.1_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(12)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCAGTCCTCACCTGAGGGACC	0.597		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1328	Whole gene deletion(1316)|Unknown(12)	p.0?(1112)|p.?(12)	haematopoietic_and_lymphoid_tissue(277)|skin(167)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(45)|ovary(33)|breast(31)|kidney(29)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CS041518|CS941435	CDKN2A	S		c.e2+1		cyclin-dependent kinase inhibitor 2A isoform 1							34.0	35.0	34.0					9																	21970900		2203	4300	6503	SO:0001630	splice_region_variant	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21970900C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.457+1G>T	9.37:g.21970900C>A		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Splice_Site|CDKN2A_uc010miu.2_Splice_Site|CDKN2A_uc003zpl.2_Splice_Site	p.D153_splice	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	669	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)						A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Splice_Site	SNP	ENST00000304494.5	37	c.457_splice	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	7.763	0.705723	0.15172	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3509	0.55146	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKN2A	21960900	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	1.477000	0.35431	2.630000	0.89119	0.655000	0.94253	.		0.597	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	Intron	13	5	1	0	3.27e-08	3.85e-08	13	5				
LINGO2	158038	broad.mit.edu	37	9	27949285	27949285	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:27949285A>G	ENST00000379992.2	-	6	1834	c.1385T>C	c.(1384-1386)gTg>gCg	p.V462A	LINGO2_ENST00000308675.3_Missense_Mutation_p.V462A	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	462	Ig-like C2-type.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		ATCACCCAACACGGTGGCTCT	0.537																																						uc003zqu.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1384-1386)GTG>GCG		leucine rich repeat and Ig domain containing 2							80.0	71.0	74.0					9																	27949285		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949285A>G	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1385T>C	9.37:g.27949285A>G	ENSP00000369328:p.Val462Ala					LINGO2_uc010mjf.1_Missense_Mutation_p.V462A|LINGO2_uc003zqv.1_Missense_Mutation_p.V462A	p.V462A	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	1579	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	462			Ig-like C2-type.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1385T>C	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.466515	0.43839	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.67171	-0.25;-0.25	5.68	5.68	0.88126	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78780	0.4337	M	0.78285	2.405	0.80722	D	1	P	0.47545	0.897	P	0.55455	0.776	T	0.79636	-0.1721	9	.	.	.	.	15.9369	0.79717	1.0:0.0:0.0:0.0	.	462	Q7L985	LIGO2_HUMAN	A	462	ENSP00000369328:V462A;ENSP00000310126:V462A	.	V	-	2	0	LINGO2	27939285	1.000000	0.71417	0.766000	0.31476	0.516000	0.34256	9.339000	0.96797	2.172000	0.68678	0.533000	0.62120	GTG		0.537	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		23	17	0	0	0	0	23	17				
TAF1L	138474	broad.mit.edu	37	9	32634220	32634220	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:32634220G>T	ENST00000242310.4	-	1	1447	c.1358C>A	c.(1357-1359)gCa>gAa	p.A453E	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	453					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAGCCAGCCTGCCAGGCTTGC	0.468																																						uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(1357-1359)GCA>GAA		TBP-associated factor RNA polymerase 1-like							191.0	178.0	182.0					9																	32634220		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32634220G>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1358C>A	9.37:g.32634220G>T	ENSP00000418379:p.Ala453Glu					uc003zrh.1_RNA	p.A453E	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1448	-			453					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1358C>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956311	0.73902	.	.	ENSG00000122728	ENST00000242310	T	0.14893	2.47	0.644	0.644	0.17776	.	0.000000	0.85682	D	0.000000	T	0.36220	0.0959	M	0.80183	2.485	0.53005	D	0.999968	D	0.76494	0.999	D	0.73380	0.98	T	0.15723	-1.0427	10	0.72032	D	0.01	.	7.0664	0.25154	1.0E-4:0.0:0.9999:0.0	.	453	Q8IZX4	TAF1L_HUMAN	E	453	ENSP00000418379:A453E	ENSP00000418379:A453E	A	-	2	0	TAF1L	32624220	1.000000	0.71417	0.993000	0.49108	0.596000	0.36781	6.138000	0.71717	0.630000	0.30394	0.430000	0.28490	GCA		0.468	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			71	50	1	0	1.38e-34	1.95e-34	71	50				
ENHO	375704	broad.mit.edu	37	9	34521615	34521615	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:34521615A>G	ENST00000399775.2	-	2	504	c.79T>C	c.(79-81)Tgg>Cgg	p.W27R	RP11-296L22.8_ENST00000439960.1_RNA	NM_198573.2	NP_940975.2	Q6UWT2	ENHO_HUMAN	energy homeostasis associated	27						extracellular region (GO:0005576)				endometrium(1)|lung(1)	2						AGGATGACCCAGAGCAGCAGC	0.632																																						uc003zun.1		NA																	0					0						c.(79-81)TGG>CGG		adropin precursor							48.0	64.0	59.0					9																	34521615		2188	4282	6470	SO:0001583	missense	375704					extracellular region		g.chr9:34521615A>G	BC022101	CCDS43795.1	9p13.3	2008-12-10	2008-12-10	2008-12-10	ENSG00000168913	ENSG00000168913			24838	protein-coding gene	gene with protein product	"""adropin"""		"""chromosome 9 open reading frame 165"""	C9orf165		12975309, 19041763	Standard	NM_198573		Approved	UNQ470	uc003zun.1	Q6UWT2	OTTHUMG00000159589	ENST00000399775.2:c.79T>C	9.37:g.34521615A>G	ENSP00000382675:p.Trp27Arg					ENHO_uc003zuo.2_RNA	p.W27R	NM_198573	NP_940975	Q6UWT2	ENHO_HUMAN			2	503	-			27					Q8N666	Missense_Mutation	SNP	ENST00000399775.2	37	c.79T>C	CCDS43795.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.728818	0.48833	.	.	ENSG00000168913	ENST00000399775;ENST00000303992	.	.	.	4.46	4.46	0.54185	.	0.000000	0.36066	N	0.002819	T	0.27629	0.0679	.	.	.	0.29471	N	0.857073	D	0.53462	0.96	B	0.38156	0.266	T	0.36866	-0.9730	8	0.87932	D	0	.	10.0515	0.42219	1.0:0.0:0.0:0.0	.	27	Q6UWT2	ENHO_HUMAN	R	27	.	ENSP00000305955:W27R	W	-	1	0	ENHO	34511615	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.609000	0.67661	1.874000	0.54306	0.374000	0.22700	TGG		0.632	ENHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356348.1	NM_198573		9	49	0	0	0	0	9	49				
C9orf152	401546	broad.mit.edu	37	9	112963437	112963437	+	Missense_Mutation	SNP	C	C	T	rs138966973	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:112963437C>T	ENST00000400613.4	-	2	1120	c.511G>A	c.(511-513)Gga>Aga	p.G171R	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	171										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TCTGGGATTCCGGTTCCTTGC	0.493																																						uc011lwk.1		NA																	0					0						c.(511-513)GGA>AGA		hypothetical protein LOC401546		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	178.0	163.0	168.0		511	-8.6	0.0	9	dbSNP_134	168	4,8596	3.7+/-12.6	0,4,4296	yes	missense	C9orf152	NM_001012993.2	125	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign	171/240	112963437	5,13001	2203	4300	6503	SO:0001583	missense	401546							g.chr9:112963437C>T	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.511G>A	9.37:g.112963437C>T	ENSP00000383456:p.Gly171Arg						p.G171R	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN			2	1065	-			171					A8MWT6	Missense_Mutation	SNP	ENST00000400613.4	37	c.511G>A	CCDS35102.2	.	.	.	.	.	.	.	.	.	.	C	2.603	-0.292610	0.05568	2.27E-4	4.65E-4	ENSG00000188959	ENST00000400613	.	.	.	4.32	-8.64	0.00874	.	2.116580	0.02463	N	0.086762	T	0.13586	0.0329	N	0.03608	-0.345	0.09310	N	1	B	0.15719	0.014	B	0.11329	0.006	T	0.18871	-1.0323	9	0.09843	T	0.71	6.6199	9.0828	0.36563	0.0:0.2413:0.4899:0.2688	.	171	Q5JTZ5	CI152_HUMAN	R	171	.	ENSP00000383456:G171R	G	-	1	0	C9orf152	112003258	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.642000	0.00863	-2.027000	0.00932	-2.232000	0.00291	GGA		0.493	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	NM_001012993		26	114	0	0	0	0	26	114				
ZBTB6	10773	broad.mit.edu	37	9	125673995	125673995	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:125673995G>A	ENST00000373659.3	-	2	445	c.357C>T	c.(355-357)tgC>tgT	p.C119C		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	119					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)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						AAGCTTCTGTGCACTTTTCCA	0.388																																						uc004bnh.2		NA																	0					0						c.(355-357)TGC>TGT		zinc finger and BTB domain containing 6							78.0	79.0	79.0					9																	125673995		2203	4300	6503	SO:0001819	synonymous_variant	10773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125673995G>A	X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16764	protein-coding gene	gene with protein product		605976	"""zinc finger protein 482"""	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.357C>T	9.37:g.125673995G>A							p.C119C	NM_006626	NP_006617	Q15916	ZBTB6_HUMAN			2	446	-			119					A8K8N6	Silent	SNP	ENST00000373659.3	37	c.357C>T	CCDS6846.1																																																																																				0.388	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053962.1	NM_006626		17	73	0	0	0	0	17	73				
TOR1B	27348	broad.mit.edu	37	9	132565578	132565578	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:132565578C>T	ENST00000259339.2	+	1	147	c.87C>T	c.(85-87)acC>acT	p.T29T	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	29					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum organization (GO:0007029)|nuclear membrane organization (GO:0071763)|protein homooligomerization (GO:0051260)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				AGCCCATCACCGTGGGCCTAG	0.726																																						uc004byk.1		NA																	0					0						c.(85-87)ACC>ACT		torsin family 1, member B (torsin B) precursor							13.0	13.0	13.0					9																	132565578		2137	4184	6321	SO:0001819	synonymous_variant	27348				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding	g.chr9:132565578C>T	AF007872	CCDS6929.1	9q34	2008-07-21			ENSG00000136816	ENSG00000136816			11995	protein-coding gene	gene with protein product		608050				9288096, 10644435	Standard	NM_014506		Approved	DQ1, MGC4386	uc004byk.1	O14657	OTTHUMG00000020795	ENST00000259339.2:c.87C>T	9.37:g.132565578C>T							p.T29T	NM_014506	NP_055321	O14657	TOR1B_HUMAN			1	147	+		Ovarian(14;0.0586)	29						Silent	SNP	ENST00000259339.2	37	c.87C>T	CCDS6929.1	.	.	.	.	.	.	.	.	.	.	C	7.098	0.573429	0.13623	.	.	ENSG00000136816	ENST00000427860	.	.	.	5.12	2.24	0.28232	.	.	.	.	.	T	0.57562	0.2062	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49000	-0.8984	4	.	.	.	-5.3318	8.7223	0.34447	0.0:0.7641:0.0:0.2359	.	.	.	.	L	11	.	.	P	+	2	0	TOR1B	131605399	0.397000	0.25270	0.856000	0.33681	0.198000	0.23893	1.071000	0.30666	0.179000	0.19938	0.491000	0.48974	CCG		0.726	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054615.1	NM_014506		11	1	0	0	0	0	11	1				
SETX	23064	broad.mit.edu	37	9	135205410	135205410	+	Silent	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:135205410G>A	ENST00000224140.5	-	10	1757	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S	SETX_ENST00000372169.2_Silent_p.S525S|SETX_ENST00000393220.1_Silent_p.S525S	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	525					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TAGATGGCATGGAATGCAATG	0.438																																						uc004cbk.2		NA																	0				ovary(2)|skin(1)	3						c.(1573-1575)TCC>TCT		senataxin							127.0	131.0	130.0					9																	135205410		2203	4300	6503	SO:0001819	synonymous_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135205410G>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.1575C>T	9.37:g.135205410G>A						SETX_uc004cbj.2_Silent_p.S144S|SETX_uc010mzt.2_Silent_p.S144S	p.S525S	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	1758	-		Myeloproliferative disorder(178;0.204)	525					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	c.1575C>T	CCDS6947.1																																																																																				0.438	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		102	35	0	0	0	0	102	35				
GBGT1	26301	broad.mit.edu	37	9	136030665	136030665	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr9:136030665C>T	ENST00000372040.3	-	6	570	c.259G>A	c.(259-261)Gcg>Acg	p.A87T	GBGT1_ENST00000372038.3_Missense_Mutation_p.G99D|GBGT1_ENST00000372043.3_Missense_Mutation_p.A87T|RALGDS_ENST00000542690.1_Missense_Mutation_p.G99D|GBGT1_ENST00000540636.1_Missense_Mutation_p.A70T|GBGT1_ENST00000472281.1_5'UTR	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	87					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		ACGATGGGCGCCAACCAGGGT	0.622																																						uc011mcw.1		NA								T					CIITA		PMBL|Hodgkin Lymphona|		0				large_intestine(1)|lung(1)|ovary(1)	3						c.(295-297)GGC>GAC		ral guanine nucleotide dissociation stimulator							79.0	75.0	76.0					9																	136030665		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:136030665C>T	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.259G>A	9.37:g.136030665C>T	ENSP00000361110:p.Ala87Thr					GBGT1_uc004ccx.2_Missense_Mutation_p.A40T|GBGT1_uc010nab.2_Missense_Mutation_p.G99D|GBGT1_uc011mcx.1_Missense_Mutation_p.A70T|GBGT1_uc004ccw.2_Missense_Mutation_p.A87T|GBGT1_uc010nac.1_5'UTR|GBGT1_uc004ccy.1_Missense_Mutation_p.A87T	p.G99D	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	6	577	-			Error:Variant_position_missing_in_Q12967_after_alignment					A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	c.296G>A	CCDS6960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.64|19.64	3.865948|3.865948	0.71949|0.71949	.|.	.|.	ENSG00000148288|ENSG00000160271;ENSG00000148288	ENST00000372043;ENST00000372040;ENST00000540636|ENST00000542690;ENST00000372038	T;T;T|T;T	0.02140|0.42513	4.43;4.43;4.43|1.89;0.97	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.066319|.	0.64402|.	D|.	0.000015|.	T|T	0.67730|0.67730	0.2924|0.2924	M|M	0.91612|0.91612	3.225|3.225	0.80722|0.80722	D|D	1|1	D;D|D	0.89917|0.63046	1.0;1.0|0.992	D;D|P	0.97110|0.57101	1.0;1.0|0.813	T|T	0.77242|0.77242	-0.2660|-0.2660	10|9	0.62326|0.66056	D|D	0.03|0.02	-2.1649|-2.1649	17.2447|17.2447	0.87025|0.87025	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	70;87|99	B7Z8S5;Q8N5D6|F5H6M6	.;GBGT1_HUMAN|.	T|D	87;87;70|99	ENSP00000361113:A87T;ENSP00000361110:A87T;ENSP00000437663:A70T|ENSP00000437518:G99D;ENSP00000361108:G99D	ENSP00000361110:A87T|ENSP00000361108:G99D	A|G	-|-	1|2	0|0	GBGT1|GBGT1;RALGDS	135020486|135020486	1.000000|1.000000	0.71417|0.71417	0.538000|0.538000	0.28064|0.28064	0.007000|0.007000	0.05969|0.05969	7.114000|7.114000	0.77103|0.77103	2.294000|2.294000	0.77228|0.77228	0.561000|0.561000	0.74099|0.74099	GCG|GGC		0.622	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		19	14	0	0	0	0	19	14				
CXorf22	170063	broad.mit.edu	37	X	35969932	35969932	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:35969932C>T	ENST00000297866.5	+	6	964	c.898C>T	c.(898-900)Caa>Taa	p.Q300*		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	300										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TACAGATATTCAACAAAGAAC	0.279																																						uc004ddj.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(898-900)CAA>TAA		hypothetical protein LOC170063							32.0	32.0	32.0					X																	35969932		2180	4233	6413	SO:0001587	stop_gained	170063							g.chrX:35969932C>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.898C>T	X.37:g.35969932C>T	ENSP00000297866:p.Gln300*					CXorf22_uc010ngv.2_RNA	p.Q300*	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			6	957	+			300					Q5JRM8|Q8N6X8	Nonsense_Mutation	SNP	ENST00000297866.5	37	c.898C>T	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923875	0.52653	.	.	ENSG00000165164	ENST00000297866	.	.	.	5.76	3.97	0.46021	.	0.738587	0.13497	N	0.383517	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	5.0148	9.9107	0.41403	0.1466:0.5763:0.2771:0.0	.	.	.	.	X	300	.	ENSP00000297866:Q300X	Q	+	1	0	CXorf22	35879853	0.409000	0.25368	0.078000	0.20375	0.066000	0.16364	0.726000	0.25984	0.560000	0.29169	0.513000	0.50165	CAA		0.279	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		5	8	0	0	0	0	5	8				
ITIH6	347365	broad.mit.edu	37	X	54784495	54784495	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:54784495G>C	ENST00000218436.6	-	8	2041	c.2012C>G	c.(2011-2013)tCc>tGc	p.S671C		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	671					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										AGTAGTTGAGGATAAGTAGAA	0.522																																						uc004dtj.2		NA																	0				lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(2011-2013)TCC>TGC		inter-alpha (globulin) inhibitor H5-like							104.0	83.0	90.0					X																	54784495		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784495G>C	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2012C>G	X.37:g.54784495G>C	ENSP00000218436:p.Ser671Cys						p.S671C	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	2042	-			671					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2012C>G	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276013	0.23307	.	.	ENSG00000102313	ENST00000218436	T	0.02656	4.21	3.8	2.89	0.33648	.	1.893280	0.03521	U	0.220968	T	0.02767	0.0083	N	0.14661	0.345	0.09310	N	0.999999	P	0.41978	0.767	B	0.36845	0.234	T	0.49826	-0.8898	10	0.56958	D	0.05	.	9.9617	0.41699	0.0:0.2036:0.7964:0.0	.	671	Q6UXX5	ITH5L_HUMAN	C	671	ENSP00000218436:S671C	ENSP00000218436:S671C	S	-	2	0	ITIH5L	54801220	0.110000	0.22057	0.256000	0.24389	0.452000	0.32318	0.499000	0.22546	0.522000	0.28464	0.597000	0.82753	TCC		0.522	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		17	64	0	0	0	0	17	64				
ITIH6	347365	broad.mit.edu	37	X	54784525	54784525	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:54784525G>C	ENST00000218436.6	-	8	2011	c.1982C>G	c.(1981-1983)tCa>tGa	p.S661*		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	661					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CACAGGCCTTGATTTGGGGGA	0.542																																						uc004dtj.2		NA																	0				lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(1981-1983)TCA>TGA		inter-alpha (globulin) inhibitor H5-like							83.0	67.0	72.0					X																	54784525		2203	4300	6503	SO:0001587	stop_gained	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784525G>C	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1982C>G	X.37:g.54784525G>C	ENSP00000218436:p.Ser661*						p.S661*	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	2012	-			661					A6NN03	Nonsense_Mutation	SNP	ENST00000218436.6	37	c.1982C>G	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772953	0.90108	.	.	ENSG00000102313	ENST00000218436	.	.	.	4.12	4.12	0.48240	.	19.784500	0.00644	U	0.000527	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	12.6356	0.56681	0.0:0.0:1.0:0.0	.	.	.	.	X	661	.	ENSP00000218436:S661X	S	-	2	0	ITIH5L	54801250	0.003000	0.15002	0.764000	0.31436	0.159000	0.22180	0.920000	0.28705	1.640000	0.50565	0.597000	0.82753	TCA		0.542	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		12	47	0	0	0	0	12	47				
ATRX	546	broad.mit.edu	37	X	76938209	76938209	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:76938209A>T	ENST00000373344.5	-	9	2753	c.2539T>A	c.(2539-2541)Ttt>Att	p.F847I	ATRX_ENST00000395603.3_Missense_Mutation_p.F809I|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	847					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GAAGAGTCAAAATCTTTTGTA	0.348			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(2539-2541)TTT>ATT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						196.0	213.0	207.0					X																	76938209		2203	4294	6497	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938209A>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2539T>A	X.37:g.76938209A>T	ENSP00000362441:p.Phe847Ile					ATRX_uc004ecq.3_Missense_Mutation_p.F809I|ATRX_uc004eco.3_Missense_Mutation_p.F632I|ATRX_uc004ecr.2_Missense_Mutation_p.F779I|ATRX_uc010nlx.1_Missense_Mutation_p.F818I|ATRX_uc010nly.1_Missense_Mutation_p.F792I	p.F847I	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	2771	-			847					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.2539T>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.858580	0.00558	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.91686	-2.88;-2.89	5.31	1.55	0.23275	.	1.340750	0.04683	N	0.412735	T	0.80701	0.4673	N	0.08118	0	0.09310	N	1	B;B;B;B	0.11235	0.003;0.004;0.001;0.003	B;B;B;B	0.15870	0.006;0.014;0.008;0.006	T	0.66368	-0.5941	10	0.21540	T	0.41	0.0157	0.8792	0.01230	0.3506:0.2602:0.2446:0.1446	.	847;779;809;847	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	I	847;809;774	ENSP00000362441:F847I;ENSP00000378967:F809I	ENSP00000362441:F847I	F	-	1	0	ATRX	76824865	0.025000	0.19082	0.002000	0.10522	0.027000	0.11550	1.019000	0.30014	-0.060000	0.13132	0.380000	0.24917	TTT		0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		101	175	0	0	0	0	101	175				
PCDH11X	27328	broad.mit.edu	37	X	91131853	91131853	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:91131853A>T	ENST00000373094.1	+	2	1459	c.614A>T	c.(613-615)aAg>aTg	p.K205M	PCDH11X_ENST00000395337.2_Missense_Mutation_p.K205M|PCDH11X_ENST00000373088.1_Missense_Mutation_p.K205M|PCDH11X_ENST00000361655.2_Missense_Mutation_p.K205M|PCDH11X_ENST00000504220.2_Missense_Mutation_p.K205M|PCDH11X_ENST00000373097.1_Missense_Mutation_p.K205M|PCDH11X_ENST00000298274.8_Missense_Mutation_p.K205M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.K205M|PCDH11X_ENST00000361724.1_Missense_Mutation_p.K205M	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	205	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATTGTTCAAAAGGAGTTAGAT	0.398																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(613-615)AAG>ATG		protocadherin 11 X-linked isoform c							139.0	122.0	128.0					X																	91131853		2201	4299	6500	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91131853A>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.614A>T	X.37:g.91131853A>T	ENSP00000362186:p.Lys205Met					PCDH11X_uc004efl.1_Missense_Mutation_p.K205M|PCDH11X_uc004efo.1_Missense_Mutation_p.K205M|PCDH11X_uc010nmv.1_Missense_Mutation_p.K205M|PCDH11X_uc004efm.1_Missense_Mutation_p.K205M|PCDH11X_uc004efn.1_Missense_Mutation_p.K205M|PCDH11X_uc004efh.1_Missense_Mutation_p.K205M|PCDH11X_uc004efj.1_Missense_Mutation_p.K205M	p.K205M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	1459	+			205			Extracellular (Potential).|Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.614A>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.185295	0.38609	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	4.69	3.53	0.40419	Cadherin (4);Cadherin-like (1);	0.118551	0.56097	D	0.000022	T	0.72574	0.3477	M	0.88181	2.935	0.40607	D	0.981636	D;D;D;D;D;D;D;D	0.63880	0.991;0.96;0.991;0.991;0.991;0.993;0.984;0.984	D;P;D;D;D;D;P;D	0.70016	0.919;0.844;0.944;0.944;0.944;0.967;0.885;0.919	T	0.74080	-0.3780	10	0.72032	D	0.01	.	8.6028	0.33756	0.9071:0.0:0.0929:0.0	.	205;205;205;205;205;205;205;205	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	M	205	ENSP00000378746:K205M;ENSP00000362186:K205M;ENSP00000362189:K205M;ENSP00000355040:K205M;ENSP00000362180:K205M;ENSP00000423762:K205M;ENSP00000355105:K205M;ENSP00000384758:K205M;ENSP00000298274:K205M	ENSP00000298274:K205M	K	+	2	0	PCDH11X	91018509	1.000000	0.71417	0.972000	0.41901	0.161000	0.22273	7.102000	0.77005	0.492000	0.27815	0.441000	0.28932	AAG		0.398	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		21	53	0	0	0	0	21	53				
VSIG1	340547	broad.mit.edu	37	X	107310364	107310364	+	Splice_Site	SNP	G	G	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:107310364G>A	ENST00000217957.5	+	3	529	c.412G>A	c.(412-414)Gtg>Atg	p.V138M	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000415430.3_Splice_Site_p.V174M	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	138						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CAGTGTGTTAGGTATGAGCAC	0.438																																						uc004eno.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(412-414)GTG>ATG		V-set and immunoglobulin domain containing 1							189.0	136.0	154.0					X																	107310364		2203	4300	6503	SO:0001630	splice_region_variant	340547					integral to membrane		g.chrX:107310364G>A	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.412+1G>A	X.37:g.107310364G>A						VSIG1_uc011msk.1_Missense_Mutation_p.V174M	p.V138M	NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN			3	573	+			138			Extracellular (Potential).		C9J4P2|Q6MZS4	Missense_Mutation	SNP	ENST00000217957.5	37	c.412G>A	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315513	0.60524	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.16743	2.32;2.32	5.19	5.19	0.71726	.	0.209202	0.31859	N	0.006943	T	0.45175	0.1329	M	0.84585	2.705	0.47037	D	0.999299	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.979	T	0.49818	-0.8899	10	0.87932	D	0	.	12.7527	0.57318	0.0:0.0:1.0:0.0	.	174;138	C9J4P2;Q86XK7	.;VSIG1_HUMAN	M	174;138	ENSP00000402219:V174M;ENSP00000217957:V138M	ENSP00000217957:V138M	V	+	1	0	VSIG1	107197020	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	5.853000	0.69496	2.406000	0.81754	0.594000	0.82650	GTG		0.438	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607	Missense_Mutation	73	16	0	0	0	0	73	16				
CAPN6	827	broad.mit.edu	37	X	110495672	110495672	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:110495672C>A	ENST00000324068.1	-	5	729	c.562G>T	c.(562-564)Gac>Tac	p.D188Y	CAPN6_ENST00000541758.1_Intron	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	188	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCCGTGAAGTCCACAATAATA	0.433																																						uc004epc.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(562-564)GAC>TAC		calpain 6							124.0	94.0	105.0					X																	110495672		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110495672C>A	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.562G>T	X.37:g.110495672C>A	ENSP00000317214:p.Asp188Tyr					CAPN6_uc011msu.1_Intron	p.D188Y	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			5	730	-			188			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.562G>T	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869581	0.91587	.	.	ENSG00000077274	ENST00000324068	D	0.90324	-2.65	5.97	5.97	0.96955	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.97074	0.9044	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97847	1.0272	10	0.87932	D	0	.	19.371	0.94484	0.0:1.0:0.0:0.0	.	188	Q9Y6Q1	CAN6_HUMAN	Y	188	ENSP00000317214:D188Y	ENSP00000317214:D188Y	D	-	1	0	CAPN6	110382328	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.798000	0.85924	2.527000	0.85204	0.600000	0.82982	GAC		0.433	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			35	14	1	0	6.71e-13	8.43e-13	35	14				
SPRY3	10251	broad.mit.edu	37	X	155003585	155003585	+	Silent	SNP	C	C	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:155003585C>T	ENST00000302805.2	+	2	483	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	18					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TATTGAACAGCTGCGCTCTAC	0.488																																						uc004fnq.1		NA																	0					0						c.(52-54)CTG>TTG		sprouty homolog 3							220.0	215.0	216.0					X																	155003585		2203	4296	6499	SO:0001819	synonymous_variant	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155003585C>T	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.52C>T	X.37:g.155003585C>T						SPRY3_uc010nvl.1_Silent_p.L18L	p.L18L	NM_005840	NP_005831	O43610	SPY3_HUMAN			2	506	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		18					A8K0H8	Silent	SNP	ENST00000302805.2	37	c.52C>T	CCDS14769.4																																																																																				0.488	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		74	39	0	0	0	0	74	39				
AGRN	375790	broad.mit.edu	37	1	957724	957724	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr1:957724delC	ENST00000379370.2	+	2	395	c.345delC	c.(343-345)ttcfs	p.F116fs		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	116	NtA. {ECO:0000255|PROSITE- ProRule:PRU00443}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCAGGATCTTCTTTGTGAACC	0.607																																						uc001ack.1		NA																	0				central_nervous_system(2)|breast(1)	3						c.(343-345)TTCfs		agrin precursor							121.0	125.0	124.0					1																	957724		2203	4300	6503	SO:0001589	frameshift_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:957724delC	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.345delC	1.37:g.957724delC	ENSP00000368678:p.Phe116fs						p.F115fs	NM_198576	NP_940978	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	2	395	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	115			NtA.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Frame_Shift_Del	DEL	ENST00000379370.2	37	c.345delC	CCDS30551.1																																																																																				0.607	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		107	52	NA	NA	NA	NA	107	52	---	---	---	---
C10orf12	26148	broad.mit.edu	37	10	98741349	98741372	+	In_Frame_Del	DEL	CGCCAGGATTTAGAGGCAAATGAA	CGCCAGGATTTAGAGGCAAATGAA	-	rs200185687|rs141108014		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr10:98741349_98741372delCGCCAGGATTTAGAGGCAAATGAA	ENST00000286067.2	+	1	309_332	c.202_225delCGCCAGGATTTAGAGGCAAATGAA	c.(202-225)cgccaggatttagaggcaaatgaadel	p.RQDLEANE68del		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	68								p.R68L(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AACACCTTTGCGCCAGGATTTAGAGGCAAATGAACAAGATGCAA	0.429																																						uc001kmv.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(202-225)CGCCAGGATTTAGAGGCAAATGAAdel		hypothetical protein LOC26148																																				SO:0001651	inframe_deletion	26148							g.chr10:98741349_98741372delCGCCAGGATTTAGAGGCAAATGAA	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.202_225delCGCCAGGATTTAGAGGCAAATGAA	10.37:g.98741349_98741372delCGCCAGGATTTAGAGGCAAATGAA	ENSP00000286067:p.Arg68_Glu75del					C10orf12_uc009xvg.1_In_Frame_Del_p.RQDLEANE378del	p.RQDLEANE68del	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	309_332	+		Colorectal(252;0.172)	68_75					Q9H945|Q9Y457	In_Frame_Del	DEL	ENST00000286067.2	37	c.202_225delCGCCAGGATTTAGAGGCAAATGAA	CCDS7452.1																																																																																				0.429	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		10	72	NA	NA	NA	NA	10	72	---	---	---	---
VAMP1	6843	broad.mit.edu	37	12	6573649	6573649	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:6573649delT	ENST00000396308.3	-	5	489	c.344delA	c.(343-345)tacfs	p.Y115fs	VAMP1_ENST00000400911.3_Intron|VAMP1_ENST00000361716.3_3'UTR|TAPBPL_ENST00000545700.1_Intron|VAMP1_ENST00000544432.1_Intron|VAMP1_ENST00000535180.1_Intron	NM_014231.3|NM_199245.1	NP_055046.1|NP_954740.1	P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 (synaptobrevin 1)	115					neurotransmitter secretion (GO:0007269)|SNARE complex assembly (GO:0035493)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuron projection (GO:0043005)|synapse (GO:0045202)				endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	AGTAAAAAAGTAGACTGGACA	0.473																																						uc001qok.2		NA																	0					0						c.(343-345)TACfs		vesicle-associated membrane protein 1 isoform 1	Botulinum Toxin Type B(DB00042)						103.0	119.0	113.0					12																	6573649		1971	4142	6113	SO:0001589	frameshift_variant	6843				neurotransmitter secretion|vesicle-mediated transport	cell junction|endocytic vesicle membrane|integral to plasma membrane|mitochondrial outer membrane|synaptic vesicle membrane|synaptosome	protein binding	g.chr12:6573649delT		CCDS31731.1, CCDS41740.1, CCDS44809.1, CCDS73422.1	12p	2013-02-13			ENSG00000139190	ENSG00000139190		"""Vesicle-associated membrane proteins"""	12642	protein-coding gene	gene with protein product		185880		SYB1		1976629	Standard	XM_006719011		Approved	VAMP-1	uc001qok.3	P23763	OTTHUMG00000168269	ENST00000396308.3:c.344delA	12.37:g.6573649delT	ENSP00000379602:p.Tyr115fs					TAPBPL_uc001qoi.1_Intron|VAMP1_uc001qoj.2_Intron|VAMP1_uc001qol.2_3'UTR	p.Y115fs	NM_014231	NP_055046	P23763	VAMP1_HUMAN			5	490	-			115			Helical; Anchor for type IV membrane protein; (Potential).		A8MVP3|D3DUR3|O75468|Q15857|Q6FG94|Q8IVC9	Frame_Shift_Del	DEL	ENST00000396308.3	37	c.344delA	CCDS41740.1																																																																																				0.473	VAMP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399078.1			2	4	NA	NA	NA	NA	2	4	---	---	---	---
ACSM4	341392	broad.mit.edu	37	12	7457112	7457112	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:7457112delG	ENST00000399422.4	+	1	233	c.185delG	c.(184-186)tggfs	p.W62fs		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	62					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						CTGGACCAGTGGTCCCAAAAG	0.468																																						uc001qsx.1		NA																	0					0						c.(184-186)TGGfs		acyl-CoA synthetase medium-chain family member 4							89.0	85.0	87.0					12																	7457112		1981	4159	6140	SO:0001589	frameshift_variant	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7457112delG		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.185delG	12.37:g.7457112delG	ENSP00000382349:p.Trp62fs						p.W62fs	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			1	185	+			62					A8MTI6	Frame_Shift_Del	DEL	ENST00000399422.4	37	c.185delG	CCDS44825.1																																																																																				0.468	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		31	71	NA	NA	NA	NA	31	71	---	---	---	---
CD163L1	283316	broad.mit.edu	37	12	7559427	7559446	+	Frame_Shift_Del	DEL	CTTAGTTCAAGATCACTACT	CTTAGTTCAAGATCACTACT	-	rs368510367		TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr12:7559427_7559446delCTTAGTTCAAGATCACTACT	ENST00000313599.3	-	5	826_845	c.769_788delAGTAGTGATCTTGAACTAAG	c.(769-789)agtagtgatcttgaactaaggfs	p.SSDLELR257fs	CD163L1_ENST00000396630.1_Frame_Shift_Del_p.SSDLELR257fs|CD163L1_ENST00000416109.2_Frame_Shift_Del_p.SSDLELR267fs			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	257						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACCTACAAGCCTTAGTTCAAGATCACTACTATCTGAAACA	0.414																																						uc001qsy.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(769-789)AGTAGTGATCTTGAACTAAGGfs		scavenger receptor cysteine-rich type 1																																				SO:0001589	frameshift_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7559427_7559446delCTTAGTTCAAGATCACTACT	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.769_788delAGTAGTGATCTTGAACTAAG	12.37:g.7559427_7559446delCTTAGTTCAAGATCACTACT	ENSP00000315945:p.Ser257fs					CD163L1_uc010sge.1_Frame_Shift_Del_p.S267fs	p.S257fs	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			5	795_814	-			257_263			SRCR 3.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Frame_Shift_Del	DEL	ENST00000313599.3	37	c.769_788delAGTAGTGATCTTGAACTAAG	CCDS8577.1																																																																																				0.414	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		18	89	NA	NA	NA	NA	18	89	---	---	---	---
RNASE3	6037	broad.mit.edu	37	14	21360216	21360216	+	Frame_Shift_Del	DEL	C	C	-	rs2073342	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:21360216delC	ENST00000304639.3	+	2	429	c.371delC	c.(370-372)acgfs	p.T124fs		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	124			T -> R (in dbSNP:rs2073342). {ECO:0000269|PubMed:11102386, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2387583, ECO:0000269|PubMed:2473157, ECO:0000269|PubMed:2745977, ECO:0000269|Ref.4, ECO:0000269|Ref.8}.		antibacterial humoral response (GO:0019731)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	TCAAACTGCACGTATGCAGAC	0.468																																						uc001vyj.2		NA																	0					0	GRCh37	CM025442	RNASE3	M	rs2073342	c.(370-372)ACGfs		ribonuclease, RNase A family, 3 (eosinophil	Pranlukast(DB01411)						90.0	91.0	91.0					14																	21360216		2189	4300	6489	SO:0001589	frameshift_variant	6037				defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21360216delC	X55990	CCDS9560.1	14q11.2	2014-03-13	2010-05-07		ENSG00000169397	ENSG00000169397	3.1.27.-	"""Ribonucleases, RNase A"""	10046	protein-coding gene	gene with protein product	"""eosinophil cationic protein"""	131398		RNS3		1577491	Standard	NM_002935		Approved	ECP	uc001vyj.3	P12724	OTTHUMG00000029604	ENST00000304639.3:c.371delC	14.37:g.21360216delC	ENSP00000302324:p.Thr124fs						p.T124fs	NM_002935	NP_002926	P12724	ECP_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	425	+	all_cancers(95;0.00453)		124					Q4VBC1|Q8WTP7|Q8WZ62|Q9GZN9	Frame_Shift_Del	DEL	ENST00000304639.3	37	c.371delC	CCDS9560.1																																																																																				0.468	RNASE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073795.2	NM_002935		55	45	NA	NA	NA	NA	55	45	---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23887419	23887419	+	Splice_Site	DEL	T	T	-			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr14:23887419delT	ENST00000355349.3	-	30	4331	c.4169delA	c.(4168-4170)aag>ag	p.K1392fs	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1392					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAGAACTCACTTGGCCTCCTC	0.617																																						uc001wjx.2		NA																	0				ovary(3)|skin(1)	4						c.(4168-4170)AAGfs		myosin, heavy chain 7, cardiac muscle, beta							77.0	78.0	77.0					14																	23887419		2203	4300	6503	SO:0001630	splice_region_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887419delT	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4169+1A>-	14.37:g.23887419delT						MIR208B_hsa-mir-208b|MI0005570_5'Flank	p.K1390fs	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4275	-	all_cancers(95;2.54e-05)		1390			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Frame_Shift_Del	DEL	ENST00000355349.3	37	c.4169delA	CCDS9601.1																																																																																				0.617	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	Frame_Shift_Del	49	28	NA	NA	NA	NA	49	28	---	---	---	---
ZNF750	79755	broad.mit.edu	37	17	80789871	80789872	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr17:80789871_80789872insT	ENST00000269394.3	-	2	1292_1293	c.459_460insA	c.(457-462)ctggaafs	p.E154fs	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	154					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTGCGCCTTCCAGAGCAGGCT	0.658																																						uc002kga.2		NA																	0				central_nervous_system(1)	1						c.(457-462)CTGGAAfs		zinc finger protein 750																																				SO:0001589	frameshift_variant	79755					intracellular	zinc ion binding	g.chr17:80789871_80789872insT	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.459_460insA	17.37:g.80789871_80789872insT	ENSP00000269394:p.Glu154fs					TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	p.L153fs	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	770_771	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	153_154					Q9H899	Frame_Shift_Ins	INS	ENST00000269394.3	37	c.459_460insA	CCDS11819.1																																																																																				0.658	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		36	15	NA	NA	NA	NA	36	15	---	---	---	---
PSG9	5678	broad.mit.edu	37	19	43772264	43772264	+	Frame_Shift_Del	DEL	G	G	-	rs143419745	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr19:43772264delG	ENST00000270077.3	-	2	198	c.102delC	c.(100-102)gccfs	p.A34fs	PSG9_ENST00000443718.3_Frame_Shift_Del_p.A34fs|PSG9_ENST00000291752.5_Frame_Shift_Del_p.A34fs|PSG9_ENST00000244293.7_Frame_Shift_Del_p.A34fs|PSG9_ENST00000418820.2_Frame_Shift_Del_p.A34fs|PSG9_ENST00000596730.1_Frame_Shift_Del_p.A34fs|PSG9_ENST00000593948.1_Frame_Shift_Del_p.A34fs	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	34					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TCGTGACTTCGGCAGTGGTGG	0.488																																						uc002owd.3		NA																	0				ovary(1)|skin(1)	2						c.(100-102)GCCfs		pregnancy specific beta-1-glycoprotein 9							124.0	125.0	125.0					19																	43772264		2203	4300	6503	SO:0001589	frameshift_variant	5678				female pregnancy	extracellular region		g.chr19:43772264delG	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.102delC	19.37:g.43772264delG	ENSP00000270077:p.Ala34fs					PSG9_uc002owe.3_Frame_Shift_Del_p.A34fs|PSG9_uc010xwm.1_Frame_Shift_Del_p.A34fs|PSG9_uc002owf.3_Frame_Shift_Del_p.A34fs|PSG9_uc002owg.2_Frame_Shift_Del_p.A34fs|PSG9_uc002owh.2_Frame_Shift_Del_p.A34fs	p.A34fs	NM_002784	NP_002775	Q00887	PSG9_HUMAN			2	201	-		Prostate(69;0.00682)	34					B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Frame_Shift_Del	DEL	ENST00000270077.3	37	c.102delC	CCDS12618.1																																																																																				0.488	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		92	166	NA	NA	NA	NA	92	166	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187542674	187542675	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr4:187542674_187542675insCC	ENST00000441802.2	-	10	5274_5275	c.5065_5066insGG	c.(5065-5067)gttfs	p.V1689fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1689	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGGCTGTAACCATCCCAACG	0.386										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(5065-5067)GTTfs		FAT tumor suppressor 1 precursor																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187542674_187542675insCC	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5064_5065dupGG	4.37:g.187542675_187542676dupCC	ENSP00000406229:p.Val1689fs	HNSCC(5;0.00058)					p.V1689fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	5253_5254	-			1689			Extracellular (Potential).|Cadherin 15.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.5065_5066insGG	CCDS47177.1																																																																																				0.386	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		28	56	NA	NA	NA	NA	28	56	---	---	---	---
SLC27A6	28965	broad.mit.edu	37	5	128351610	128351610	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:128351610delG	ENST00000262462.4	+	5	2012	c.1002delG	c.(1000-1002)ttgfs	p.L334fs	SLC27A6_ENST00000395266.1_Frame_Shift_Del_p.L334fs|SLC27A6_ENST00000506176.1_Frame_Shift_Del_p.L334fs			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	334					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGGTGCGTTTGGCAATTGGAA	0.328																																						uc003kuy.2		NA																	0					0						c.(1000-1002)TTGfs		solute carrier family 27 (fatty acid							122.0	126.0	124.0					5																	128351610		2203	4300	6503	SO:0001589	frameshift_variant	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128351610delG	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1002delG	5.37:g.128351610delG	ENSP00000262462:p.Leu334fs					SLC27A6_uc003kuz.2_Frame_Shift_Del_p.L334fs	p.L334fs	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	6	1398	+		all_cancers(142;0.0483)|Prostate(80;0.055)	334					Q6IAM5|Q7Z6E6|Q86YF6	Frame_Shift_Del	DEL	ENST00000262462.4	37	c.1002delG	CCDS4145.1																																																																																				0.328	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		19	29	NA	NA	NA	NA	19	29	---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	129001220	129001221	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:129001220_129001221insA	ENST00000274487.4	+	16	2581_2582	c.2436_2437insA	c.(2437-2439)ggafs	p.G813fs	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	813	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGATACCTGCTGGAGCAAGAAG	0.406																																						uc003kvb.1		NA																	0				ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(2434-2439)GCTGGAfs		ADAM metallopeptidase with thrombospondin type 1																																				SO:0001589	frameshift_variant	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129001220_129001221insA	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	Exception_encountered	5.37:g.129001220_129001221insA	ENSP00000274487:p.Gly813fs					ADAMTS19_uc010jdh.1_RNA	p.A812fs	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	16	2436_2437	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	812_813			Spacer.			Frame_Shift_Ins	INS	ENST00000274487.4	37	c.2436_2437insA	CCDS4146.1																																																																																				0.406	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		7	6	NA	NA	NA	NA	7	6	---	---	---	---
RBM27	54439	broad.mit.edu	37	5	145648991	145648992	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr5:145648991_145648992insT	ENST00000265271.5	+	17	2701_2702	c.2535_2536insT	c.(2536-2538)tccfs	p.S846fs	RBM27_ENST00000506502.1_Frame_Shift_Ins_p.S791fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	846					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGATGTTAATATCCAAGTTAGA	0.243																																						uc003lnz.3		NA																	0				central_nervous_system(2)|pancreas(1)	3						c.(2533-2538)ATATCCfs		RNA binding motif protein 27																																				SO:0001589	frameshift_variant	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145648991_145648992insT	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2536dupT	5.37:g.145648992_145648992dupT	ENSP00000265271:p.Ser846fs					RBM27_uc003lny.2_Frame_Shift_Ins_p.I790fs	p.I845fs	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	2701_2702	+			845_846			Potential.		Q8IYW9	Frame_Shift_Ins	INS	ENST00000265271.5	37	c.2535_2536insT	CCDS43378.1																																																																																				0.243	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		8	20	NA	NA	NA	NA	8	20	---	---	---	---
MDFIC	29969	broad.mit.edu	37	7	114563068	114563068	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr7:114563068delG	ENST00000257724.3	+	2	570	c.307delG	c.(307-309)gcgfs	p.A103fs	MDFIC_ENST00000393486.1_5'UTR|MDFIC_ENST00000423503.1_5'UTR|MDFIC_ENST00000448022.1_5'UTR					MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						GCGGCGCGGCGCGGGCTCGGC	0.771																																						uc003vhf.2		NA																	0				ovary(1)	1						c.(307-309)GCGfs		MyoD family inhibitor domain containing protein							3.0	4.0	4.0					7																	114563068		1438	2924	4362	SO:0001589	frameshift_variant	29969				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleolus|nucleolus|nucleus	cyclin binding|Tat protein binding	g.chr7:114563068delG	AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000257724.3:c.307delG	7.37:g.114563068delG	ENSP00000257724:p.Ala103fs					MDFIC_uc003vhg.2_RNA	p.A103fs	NM_199072	NP_951038	Q9P1T7	MDFIC_HUMAN			2	570	+			Error:Variant_position_missing_in_Q9P1T7_after_alignment						Frame_Shift_Del	DEL	ENST00000257724.3	37	c.307delG	CCDS34737.1																																																																																				0.771	MDFIC-007	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366397.1	NM_199072		5	4	NA	NA	NA	NA	5	4	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61693942	61693943	+	In_Frame_Ins	INS	-	-	AAAGCA	rs398124316|rs377139749	byFrequency	TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chr8:61693942_61693943insAAAGCA	ENST00000423902.2	+	3	2528_2529	c.2049_2050insAAAGCA	c.(2050-2052)aaa>AAAGCAaaa	p.684_684K>KAK	CHD7_ENST00000525508.1_In_Frame_Ins_p.684_684K>KAK|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	684	Lys-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAAAGGAAAAGAAAGCAAAAAC	0.45														17	0.00339457	0.0008	0.0072	5008	,	,		16148	0.0		0.0109	False		,,,				2504	0.0					uc003xue.2		NA																	1	Insertion - In frame(1)	p.556_871dup(1)	lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(2047-2052)insAAAGCA		chromodomain helicase DNA binding protein 7				11,3479		0,11,1734						5.4	1.0			40	91,7681		3,85,3798	no	coding	CHD7	NM_017780.3		3,96,5532	A1A1,A1R,RR		1.1709,0.3152,0.9057				102,11160				SO:0001652	inframe_insertion	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61693942_61693943insAAAGCA	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2050_2055dupAAAGCA	8.37:g.61693943_61693948dupAAAGCA	Exception_encountered						p.685_686insKA	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		3	2526_2527	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	685_686			Lys-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	In_Frame_Ins	INS	ENST00000423902.2	37	c.2049_2050insAAAGCA	CCDS47865.1																																																																																				0.450	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		6	2	NA	NA	NA	NA	6	2	---	---	---	---
DACH2	117154	broad.mit.edu	37	X	85969660	85969661	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DQ-5629-01A-01D-1870-08	TCGA-DQ-5629-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e748f828-0b80-47f3-aa92-fb3b2be0dcc2	1b1a16fa-937e-4a09-a53e-20a9057b47d8	g.chrX:85969660_85969661insA	ENST00000373125.4	+	6	1041_1042	c.1041_1042insA	c.(1042-1044)aacfs	p.N348fs	DACH2_ENST00000508860.1_Frame_Shift_Ins_p.N181fs|DACH2_ENST00000373131.1_Frame_Shift_Ins_p.N335fs|DACH2_ENST00000510272.1_Frame_Shift_Ins_p.N129fs	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	348					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						ATACTATTGCCAACATGGCTGC	0.446																																						uc004eew.2		NA																	0				ovary(4)|pancreas(1)	5						c.(1039-1044)GCCAACfs		dachshund 2 isoform a																																				SO:0001589	frameshift_variant	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85969660_85969661insA	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1043dupA	X.37:g.85969662_85969662dupA	ENSP00000362217:p.Asn348fs					DACH2_uc004eex.2_Frame_Shift_Ins_p.A334fs|DACH2_uc010nmq.2_Frame_Shift_Ins_p.A213fs|DACH2_uc011mra.1_Frame_Shift_Ins_p.A180fs|DACH2_uc010nmr.2_Frame_Shift_Ins_p.A128fs|DACH2_uc004eey.2_Frame_Shift_Ins_p.A30fs|DACH2_uc004eez.2_Frame_Shift_Ins_p.A30fs	p.A347fs	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			6	1211_1212	+			347_348					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Frame_Shift_Ins	INS	ENST00000373125.4	37	c.1041_1042insA	CCDS14455.1																																																																																				0.446	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		21	33	NA	NA	NA	NA	21	33	---	---	---	---
