#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
MTOR	2475	broad.mit.edu	37	1	11297982	11297982	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:11297982T>C	ENST00000361445.4	-	13	2202	c.2126A>G	c.(2125-2127)gAg>gGg	p.E709G		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	709					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GATGGCCAGCTCCCGGATCTC	0.582																																						uc001asd.2		NA																	0				central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(2125-2127)GAG>GGG		FK506 binding protein 12-rapamycin associated							88.0	72.0	78.0					1																	11297982		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11297982T>C	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2126A>G	1.37:g.11297982T>C	ENSP00000354558:p.Glu709Gly						p.E709G	NM_004958	NP_004949	P42345	MTOR_HUMAN			13	2247	-			709					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.2126A>G	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	32	5.105880	0.94292	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.37058	1.22	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67571	0.2907	M	0.89658	3.05	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.75468	-0.3307	10	0.87932	D	0	-1.626	15.9649	0.79961	0.0:0.0:0.0:1.0	.	709	P42345	MTOR_HUMAN	G	709	ENSP00000354558:E709G	ENSP00000354558:E709G	E	-	2	0	MTOR	11220569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.665000	0.83852	2.178000	0.69098	0.459000	0.35465	GAG		0.582	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		12	33	0	0	0	0	12	33				
PQLC2	54896	broad.mit.edu	37	1	19653876	19653876	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:19653876C>T	ENST00000375153.3	+	7	1414	c.774C>T	c.(772-774)ggC>ggT	p.G258G	PQLC2_ENST00000400548.2_Silent_p.G193G|PQLC2_ENST00000375155.3_Silent_p.G258G	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	258					amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819)	integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765)	arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTGTGGGCAGCCTGGGCG	0.652																																						uc001bby.2		NA																	0					0						c.(772-774)GGC>GGT		PQ loop repeat containing 2 isoform 1							49.0	43.0	45.0					1																	19653876		2203	4300	6503	SO:0001819	synonymous_variant	54896					integral to membrane		g.chr1:19653876C>T	BC015324	CCDS195.2, CCDS30618.1	1p36.13	2013-10-11			ENSG00000040487	ENSG00000040487			26001	protein-coding gene	gene with protein product		614760				23169667	Standard	XM_005245915		Approved	FLJ20320	uc001bby.3	Q6ZP29	OTTHUMG00000002521	ENST00000375153.3:c.774C>T	1.37:g.19653876C>T						PQLC2_uc001bbz.2_Silent_p.G193G|PQLC2_uc001bca.2_Silent_p.G258G|PQLC2_uc001bcb.2_Silent_p.G147G|PQLC2_uc001bcc.2_Silent_p.G147G	p.G258G	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	8	1126	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	258			Helical; (Potential).		B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Silent	SNP	ENST00000375153.3	37	c.774C>T	CCDS195.2																																																																																				0.652	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007255.1	NM_017765		8	32	0	0	0	0	8	32				
DCST2	127579	broad.mit.edu	37	1	155006045	155006045	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:155006045G>T	ENST00000368424.3	-	1	191	c.133C>A	c.(133-135)Cta>Ata	p.L45I	DCST1_ENST00000295542.1_5'Flank|DCST1_ENST00000392480.1_5'Flank|DCST2_ENST00000295536.5_Missense_Mutation_p.L45I|DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000423025.2_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	45						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCACCAGTAGCTCCAGAAGC	0.632																																						uc001fgm.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(133-135)CTA>ATA		DC-STAMP domain containing 2							68.0	67.0	68.0					1																	155006045		2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:155006045G>T	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.133C>A	1.37:g.155006045G>T	ENSP00000357409:p.Leu45Ile					DCST2_uc009wpb.2_RNA|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank	p.L45I	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	213	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		45			Helical; (Potential).		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.133C>A	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791757	0.50102	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.27256	1.68;1.75	5.59	5.59	0.84812	.	0.000000	0.50627	D	0.000117	T	0.27629	0.0679	L	0.52364	1.645	0.25133	N	0.990553	D	0.76494	0.999	D	0.78314	0.991	T	0.10291	-1.0636	10	0.20519	T	0.43	-13.257	12.1087	0.53827	0.0:0.0:0.8286:0.1714	.	45	Q5T1A1	DCST2_HUMAN	I	45	ENSP00000357409:L45I;ENSP00000295536:L45I	ENSP00000295536:L45I	L	-	1	2	DCST2	153272669	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	4.372000	0.59530	2.634000	0.89283	0.561000	0.74099	CTA		0.632	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		14	69	1	0	1.57e-10	1.76e-10	14	69				
GON4L	54856	broad.mit.edu	37	1	155736338	155736338	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:155736338C>T	ENST00000368331.1	-	21	2974	c.2926G>A	c.(2926-2928)Ggt>Agt	p.G976S	GON4L_ENST00000437809.1_Missense_Mutation_p.G976S|GON4L_ENST00000271883.5_Missense_Mutation_p.G976S|GON4L_ENST00000361040.5_Missense_Mutation_p.G976S|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	976					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGGACTACACCCTTAGGCAAT	0.498																																						uc001flz.2		NA																	0				ovary(3)	3						c.(2926-2928)GGT>AGT		gon-4-like isoform a							141.0	133.0	136.0					1																	155736338		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155736338C>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.2926G>A	1.37:g.155736338C>T	ENSP00000357315:p.Gly976Ser					GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.G976S|GON4L_uc009wrh.1_Missense_Mutation_p.G976S|GON4L_uc001fma.1_Missense_Mutation_p.G976S|GON4L_uc001fmb.3_Missense_Mutation_p.G172S|GON4L_uc001fmc.2_Missense_Mutation_p.G976S|GON4L_uc001fmd.3_Missense_Mutation_p.G976S|GON4L_uc009wri.2_Missense_Mutation_p.G562S	p.G976S	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			21	3023	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		976					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.2926G>A		.	.	.	.	.	.	.	.	.	.	C	18.35	3.605750	0.66445	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	4.69	3.79	0.43588	.	0.073960	0.53938	D	0.000057	T	0.64549	0.2608	M	0.65498	2.005	0.37041	D	0.897142	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	T	0.69128	-0.5227	10	0.52906	T	0.07	.	12.6113	0.56552	0.0:0.9193:0.0:0.0807	.	976;172;976;976	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	S	976	ENSP00000396117:G976S;ENSP00000357315:G976S;ENSP00000271883:G976S;ENSP00000354322:G976S	ENSP00000271883:G976S	G	-	1	0	GON4L	154002962	0.998000	0.40836	0.788000	0.31933	0.542000	0.35054	5.139000	0.64801	1.228000	0.43614	-0.141000	0.14075	GGT		0.498	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		19	66	0	0	0	0	19	66				
ARHGEF11	9826	broad.mit.edu	37	1	156926233	156926233	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:156926233C>T	ENST00000361409.2	-	18	2272	c.1530G>A	c.(1528-1530)ccG>ccA	p.P510P	ARHGEF11_ENST00000368194.3_Silent_p.P550P	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	510					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TAGGGAAGAACGGTAGCCACT	0.552																																						uc001fqo.2		NA																	0				ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(1528-1530)CCG>CCA		Rho guanine nucleotide exchange factor (GEF) 11							154.0	141.0	145.0					1																	156926233		2203	4300	6503	SO:0001819	synonymous_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156926233C>T	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1530G>A	1.37:g.156926233C>T						ARHGEF11_uc001fqn.2_Silent_p.P550P|ARHGEF11_uc001fqp.1_Silent_p.P39P	p.P510P	NM_014784	NP_055599	O15085	ARHGB_HUMAN			18	2570	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		510					D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	c.1530G>A	CCDS1162.1																																																																																				0.552	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		21	86	0	0	0	0	21	86				
CD1E	913	broad.mit.edu	37	1	158326543	158326543	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:158326543C>T	ENST00000368167.3	+	6	1263	c.1024C>T	c.(1024-1026)Cac>Tac	p.H342Y	CD1E_ENST00000368165.3_Missense_Mutation_p.H252Y|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000452291.2_Missense_Mutation_p.H153Y|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000444681.2_Missense_Mutation_p.H243Y|CD1E_ENST00000368154.1_Missense_Mutation_p.H98Y	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	342					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)					TCTTTCTCCCCACACACCCAG	0.413																																						uc001fse.2		NA																	0				skin(3)	3						c.(1024-1026)CAC>TAC		CD1E antigen isoform a precursor							100.0	94.0	95.0					1																	158326543		1864	4101	5965	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158326543C>T	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.1024C>T	1.37:g.158326543C>T	ENSP00000357149:p.His342Tyr					CD1E_uc001fsd.2_3'UTR|CD1E_uc001fsk.2_Missense_Mutation_p.H252Y|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Missense_Mutation_p.H153Y|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Missense_Mutation_p.H98Y|CD1E_uc001fsf.2_Intron|CD1E_uc001fry.2_Intron|CD1E_uc001fsg.2_3'UTR|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Intron|CD1E_uc009wsv.2_Missense_Mutation_p.H243Y|CD1E_uc001frz.2_Intron|CD1E_uc009wsw.2_Intron	p.H342Y	NM_030893	NP_112155	P15812	CD1E_HUMAN			6	1263	+	all_hematologic(112;0.0378)		342					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.1024C>T	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	C	6.065	0.380283	0.11466	.	.	ENSG00000158488	ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368154	T;T;T;T;T	0.46819	5.29;4.76;3.49;3.51;0.86	4.63	-5.81	0.02340	.	3.899340	0.00687	N	0.000703	T	0.06142	0.0159	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.05818	-1.0862	10	0.02654	T	1	5.28	2.955	0.05874	0.1305:0.1529:0.1303:0.5863	.	243;252;342;153;98	E7EP01;P15812-5;P15812;P15812-8;P15812-11	.;.;CD1E_HUMAN;.;.	Y	243;342;153;252;98	ENSP00000402906:H243Y;ENSP00000357149:H342Y;ENSP00000416228:H153Y;ENSP00000357147:H252Y;ENSP00000357136:H98Y	ENSP00000357136:H98Y	H	+	1	0	CD1E	156593167	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.168000	0.01270	-0.925000	0.03775	-0.768000	0.03414	CAC		0.413	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		9	50	0	0	0	0	9	50				
IL24	11009	broad.mit.edu	37	1	207072852	207072852	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:207072852G>A	ENST00000294984.2	+	3	506	c.232G>A	c.(232-234)Gac>Aac	p.D78N	IL24_ENST00000391929.3_Missense_Mutation_p.D79N|IL24_ENST00000491169.1_Intron|IL24_ENST00000367093.3_Missense_Mutation_p.D79N	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	78					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					GGCTGTGAAAGACACTATGGT	0.572																																						uc001hes.1		NA																	0					0						c.(232-234)GAC>AAC		interleukin 24 isoform 1 precursor							57.0	62.0	60.0					1																	207072852		2202	4300	6502	SO:0001583	missense	11009				apoptosis	extracellular space	cytokine activity	g.chr1:207072852G>A	U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"""Interleukins and interleukin receptors"""	11346	protein-coding gene	gene with protein product	"""melanoma differentiation association protein 7"", ""suppression of tumorigenicity 16 (melanoma differentiation)"", ""IL-4-induced secreted protein"""	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.232G>A	1.37:g.207072852G>A	ENSP00000294984:p.Asp78Asn					IL24_uc001het.1_Intron|IL24_uc001heu.1_Missense_Mutation_p.D79N|IL24_uc001hev.1_Intron|IL24_uc001hew.1_Missense_Mutation_p.D79N|IL24_uc001hex.1_Intron	p.D78N	NM_006850	NP_006841	Q13007	IL24_HUMAN			3	506	+	Breast(84;0.201)		78					Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Missense_Mutation	SNP	ENST00000294984.2	37	c.232G>A	CCDS1471.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652565	0.29336	.	.	ENSG00000162892	ENST00000391929;ENST00000294984;ENST00000367093	T;T;T	0.17528	2.27;2.27;2.27	4.34	2.43	0.29744	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.591220	0.03168	N	0.170331	T	0.13798	0.0334	L	0.28400	0.85	0.09310	N	1	B;B;B	0.26602	0.154;0.049;0.049	B;B;B	0.27262	0.078;0.028;0.028	T	0.26503	-1.0101	10	0.22706	T	0.39	.	5.5525	0.17099	0.2515:0.0:0.7485:0.0	.	79;79;78	Q2YHE5;Q53XZ7;Q13007	.;.;IL24_HUMAN	N	79;78;79	ENSP00000375795:D79N;ENSP00000294984:D78N;ENSP00000356060:D79N	ENSP00000294984:D78N	D	+	1	0	IL24	205139475	0.860000	0.29831	0.017000	0.16124	0.498000	0.33706	1.442000	0.35046	1.140000	0.42260	0.563000	0.77884	GAC		0.572	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2	NM_006850		15	56	0	0	0	0	15	56				
ARID5B	84159	broad.mit.edu	37	10	63661489	63661489	+	Splice_Site	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr10:63661489G>A	ENST00000279873.7	+	1	431	c.21G>A	c.(19-21)caG>caA	p.Q7Q		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	7					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ACTCACTCCAGGTATTTCGCT	0.587																																						uc001jlt.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(19-21)CAG>CAA		AT rich interactive domain 5B (MRF1-like)							123.0	106.0	112.0					10																	63661489		2203	4300	6503	SO:0001630	splice_region_variant	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63661489G>A	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.21+1G>A	10.37:g.63661489G>A						ARID5B_uc010qil.1_Silent_p.Q7Q	p.Q7Q	NM_032199	NP_115575	Q14865	ARI5B_HUMAN			1	47	+	Prostate(12;0.016)|all_hematologic(501;0.215)		7					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	ENST00000279873.7	37	c.21G>A	CCDS31208.1																																																																																				0.587	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482	Silent	7	32	0	0	0	0	7	32				
DNA2	1763	broad.mit.edu	37	10	70204742	70204742	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr10:70204742T>C	ENST00000358410.3	-	8	1206	c.1156A>G	c.(1156-1158)Ata>Gta	p.I386V	DNA2_ENST00000399180.2_Missense_Mutation_p.I472V|DNA2_ENST00000399179.2_Missense_Mutation_p.I386V	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	386	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TCCTCAATTATTTGTGGCAAA	0.343																																						uc001jof.2		NA																	0					0						c.(1414-1416)ATA>GTA		DNA replication helicase 2 homolog							100.0	96.0	97.0					10																	70204742		1824	4091	5915	SO:0001583	missense	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70204742T>C	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.1156A>G	10.37:g.70204742T>C	ENSP00000351185:p.Ile386Val					DNA2_uc001jog.1_Missense_Mutation_p.I386V|DNA2_uc001joh.1_RNA	p.I472V	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN			8	1414	-			386					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37	c.1414A>G		.	.	.	.	.	.	.	.	.	.	T	9.877	1.200550	0.22121	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.93659	-2.76;-3.26;-2.74	5.2	1.69	0.24217	.	0.425221	0.25427	N	0.030746	T	0.79353	0.4431	N	0.14661	0.345	0.22017	N	0.999418	B;B	0.14012	0.009;0.004	B;B	0.18561	0.022;0.004	T	0.63853	-0.6543	10	0.02654	T	1	.	0.5046	0.00585	0.248:0.2766:0.1329:0.3425	.	386;386	F8VR31;P51530	.;DNA2L_HUMAN	V	386;472;386;386	ENSP00000382133:I472V;ENSP00000382132:I386V;ENSP00000351185:I386V	ENSP00000351185:I386V	I	-	1	0	DNA2	69874748	0.100000	0.21855	0.994000	0.49952	0.982000	0.71751	0.049000	0.14099	0.818000	0.34468	0.528000	0.53228	ATA		0.343	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			20	44	0	0	0	0	20	44				
DLG5	9231	broad.mit.edu	37	10	79569435	79569435	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr10:79569435T>C	ENST00000372391.2	-	24	4522	c.4517A>G	c.(4516-4518)aAa>aGa	p.K1506R	DLG5_ENST00000372388.2_Missense_Mutation_p.K1166R|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1506	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTGGGACTTTTTGATGAAGAC	0.542																																						uc001jzk.2		NA																	0				ovary(5)|breast(3)	8						c.(4516-4518)AAA>AGA		discs large homolog 5							191.0	191.0	191.0					10																	79569435		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79569435T>C	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4517A>G	10.37:g.79569435T>C	ENSP00000361467:p.Lys1506Arg					DLG5_uc001jzi.2_Missense_Mutation_p.K261R|DLG5_uc001jzj.2_Missense_Mutation_p.K921R|DLG5_uc009xru.1_RNA	p.K1506R	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		24	4587	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1506			PDZ 4.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.4517A>G	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	T	11.80	1.745643	0.30955	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.27890	1.64;1.64;1.64	5.85	4.72	0.59763	PDZ/DHR/GLGF (3);	0.358324	0.20326	N	0.094530	T	0.17619	0.0423	N	0.16567	0.415	0.28122	N	0.930566	B;B	0.24963	0.002;0.115	B;B	0.18561	0.006;0.022	T	0.11842	-1.0571	10	0.42905	T	0.14	.	7.5706	0.27904	0.0:0.0719:0.1415:0.7866	.	1506;1166	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	R	1506;467;1166	ENSP00000361467:K1506R;ENSP00000394797:K467R;ENSP00000361464:K1166R	ENSP00000361464:K1166R	K	-	2	0	DLG5	79239441	0.916000	0.31088	0.971000	0.41717	0.730000	0.41778	1.220000	0.32491	1.043000	0.40175	0.533000	0.62120	AAA		0.542	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			70	162	0	0	0	0	70	162				
GRID1	2894	broad.mit.edu	37	10	87615919	87615919	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr10:87615919A>G	ENST00000327946.7	-	7	1065	c.980T>C	c.(979-981)gTt>gCt	p.V327A		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	327					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CAGCATCAGAACACTGTCATA	0.498										Multiple Myeloma(13;0.14)																												uc001kdl.1		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(979-981)GTT>GCT		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						95.0	84.0	88.0					10																	87615919		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87615919A>G	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.980T>C	10.37:g.87615919A>G	ENSP00000330148:p.Val327Ala	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.V327A	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			7	1081	-			327			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.980T>C	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.803256	0.90623	.	.	ENSG00000182771	ENST00000327946	D	0.90732	-2.72	5.43	5.43	0.79202	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94192	0.8136	M	0.64997	1.995	0.80722	D	1	D	0.63046	0.992	D	0.77004	0.989	D	0.94755	0.7931	10	0.87932	D	0	.	14.662	0.68879	1.0:0.0:0.0:0.0	.	327	Q9ULK0	GRID1_HUMAN	A	327	ENSP00000330148:V327A	ENSP00000330148:V327A	V	-	2	0	GRID1	87605899	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.332000	0.96446	2.065000	0.61736	0.528000	0.53228	GTT		0.498	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		18	36	0	0	0	0	18	36				
ATRNL1	26033	broad.mit.edu	37	10	117704198	117704198	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr10:117704198A>G	ENST00000355044.3	+	29	4174	c.4048A>G	c.(4048-4050)Att>Gtt	p.I1350V	ATRNL1_ENST00000303745.7_Missense_Mutation_p.I143V|ATRNL1_ENST00000423111.2_Missense_Mutation_p.I401V	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1350					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)		CCTAATAGATATTTCACAACA	0.423																																						uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(4048-4050)ATT>GTT		attractin-like 1 precursor							79.0	82.0	81.0					10																	117704198		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117704198A>G	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.4048A>G	10.37:g.117704198A>G	ENSP00000347152:p.Ile1350Val					ATRNL1_uc010qsm.1_Missense_Mutation_p.I479V|ATRNL1_uc010qsn.1_RNA	p.I1350V	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)	29	4434	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1350			Cytoplasmic (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.4048A>G	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	A	9.146	1.014957	0.19355	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.46063	0.88;0.88;0.88	5.78	5.78	0.91487	.	0.107925	0.64402	D	0.000008	T	0.36799	0.0980	N	0.10733	0.035	0.39557	D	0.969064	B;P	0.35745	0.0;0.518	B;P	0.47827	0.0;0.558	T	0.39702	-0.9601	10	0.29301	T	0.29	-21.5681	16.4053	0.83662	1.0:0.0:0.0:0.0	.	401;1350	B4DH41;Q5VV63	.;ATRN1_HUMAN	V	1350;401;143	ENSP00000347152:I1350V;ENSP00000409624:I401V;ENSP00000307660:I143V	ENSP00000307660:I143V	I	+	1	0	ATRNL1	117694188	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.449000	0.66619	2.333000	0.79357	0.482000	0.46254	ATT		0.423	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		22	49	0	0	0	0	22	49				
DCHS1	8642	broad.mit.edu	37	11	6662135	6662135	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:6662135G>T	ENST00000299441.3	-	2	1121	c.710C>A	c.(709-711)gCc>gAc	p.A237D		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	237	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGGCCTGGGCCCTCCGGGG	0.597																																						uc001mem.1		NA																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(709-711)GCC>GAC		dachsous 1 precursor							104.0	105.0	105.0					11																	6662135		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662135G>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.710C>A	11.37:g.6662135G>T	ENSP00000299441:p.Ala237Asp						p.A237D	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1120	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	237			Cadherin 2.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.710C>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	7.312	0.615160	0.14129	.	.	ENSG00000166341	ENST00000299441	T	0.52295	0.67	4.71	2.76	0.32466	Cadherin (4);Cadherin-like (1);	0.000000	0.46442	D	0.000294	T	0.45518	0.1346	N	0.17474	0.49	0.31264	N	0.692574	D	0.76494	0.999	D	0.80764	0.994	T	0.46952	-0.9154	10	0.49607	T	0.09	.	5.571	0.17196	0.0808:0.1407:0.6335:0.1451	.	237	Q96JQ0	PCD16_HUMAN	D	237	ENSP00000299441:A237D	ENSP00000299441:A237D	A	-	2	0	DCHS1	6618711	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	1.796000	0.38794	1.063000	0.40649	0.544000	0.68410	GCC		0.597	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		25	115	1	0	1.43e-11	1.6e-11	25	115				
ST5	6764	broad.mit.edu	37	11	8728695	8728695	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:8728695C>T	ENST00000534127.1	-	16	2893	c.2508G>A	c.(2506-2508)tcG>tcA	p.S836S	ST5_ENST00000526757.1_Silent_p.S416S|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000534278.1_Silent_p.S27S|ST5_ENST00000313726.6_Silent_p.S836S|ST5_ENST00000526099.1_Silent_p.S349S|ST5_ENST00000357665.1_Silent_p.S836S|ST5_ENST00000530438.1_Silent_p.S416S|ST5_ENST00000530991.1_Silent_p.S308S	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	836	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTGGGAAGGGCGACTCCATGA	0.592																																						uc001mgt.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(2506-2508)TCG>TCA		suppression of tumorigenicity 5 isoform 1							121.0	109.0	113.0					11																	8728695		2201	4296	6497	SO:0001819	synonymous_variant	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8728695C>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2508G>A	11.37:g.8728695C>T						ST5_uc009yfr.2_Silent_p.S416S|ST5_uc001mgu.2_Silent_p.S416S|ST5_uc001mgv.2_Silent_p.S836S|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Silent_p.S349S|ST5_uc009yfs.2_RNA	p.S836S	NM_213618	NP_998783	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	13	2694	-			836			DENN.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	ENST00000534127.1	37	c.2508G>A	CCDS7791.1																																																																																				0.592	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		11	33	0	0	0	0	11	33				
CSRP3	8048	broad.mit.edu	37	11	19209725	19209725	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:19209725A>T	ENST00000533783.1	-	4	479	c.239T>A	c.(238-240)cTc>cAc	p.L80H	CSRP3_ENST00000265968.3_Missense_Mutation_p.L80H	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	80					cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue development (GO:0048738)|cardiac myofibril assembly (GO:0055003)|cellular calcium ion homeostasis (GO:0006874)|detection of muscle stretch (GO:0035995)|protein localization to organelle (GO:0033365)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)	cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)	actinin binding (GO:0042805)|structural constituent of muscle (GO:0008307)|telethonin binding (GO:0031433)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						GTCTGTGCTGAGACAGCCAGC	0.567																																						uc001mpk.2		NA																	0					0						c.(238-240)CTC>CAC		cysteine and glycine-rich protein 3							135.0	118.0	124.0					11																	19209725		2199	4293	6492	SO:0001583	missense	8048				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding	g.chr11:19209725A>T	U20324	CCDS7848.1	11p15.1	2014-09-17				ENSG00000129170			2472	protein-coding gene	gene with protein product		600824				7490106	Standard	NM_003476		Approved	CLP, MLP, CMD1M	uc001mpk.3	P50461		ENST00000533783.1:c.239T>A	11.37:g.19209725A>T	ENSP00000431813:p.Leu80His						p.L80H	NM_003476	NP_003467	P50461	CSRP3_HUMAN			3	356	-			80					Q9P131	Missense_Mutation	SNP	ENST00000533783.1	37	c.239T>A	CCDS7848.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697036	0.88830	.	.	ENSG00000129170	ENST00000265968;ENST00000533783	D;D	0.93366	-3.21;-3.21	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97059	0.9769	10	0.87932	D	0	-7.3507	15.5312	0.75964	1.0:0.0:0.0:0.0	.	80	P50461	CSRP3_HUMAN	H	80	ENSP00000265968:L80H;ENSP00000431813:L80H	ENSP00000265968:L80H	L	-	2	0	CSRP3	19166301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.233000	0.95337	2.152000	0.67230	0.533000	0.62120	CTC		0.567	CSRP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394484.1	NM_003476		18	97	0	0	0	0	18	97				
HIPK3	10114	broad.mit.edu	37	11	33308310	33308310	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:33308310A>G	ENST00000303296.4	+	2	655	c.350A>G	c.(349-351)cAt>cGt	p.H117R	HIPK3_ENST00000379016.3_Missense_Mutation_p.H117R|HIPK3_ENST00000525975.1_Missense_Mutation_p.H117R|HIPK3_ENST00000456517.1_Missense_Mutation_p.H117R	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	117					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AACAGATTGCATTTCCTAGAA	0.498																																						uc001mul.1		NA																	0				large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						c.(349-351)CAT>CGT		homeodomain interacting protein kinase 3 isoform							73.0	62.0	66.0					11																	33308310		2202	4298	6500	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33308310A>G	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.350A>G	11.37:g.33308310A>G	ENSP00000304226:p.His117Arg					HIPK3_uc001mum.1_Missense_Mutation_p.H117R|HIPK3_uc009yjv.1_Missense_Mutation_p.H117R	p.H117R	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN			2	620	+			117					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.350A>G	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	A	2.697	-0.271818	0.05716	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.49720	0.79;0.77;0.79;0.79	4.92	1.23	0.21249	.	1.023360	0.07771	N	0.951714	T	0.29850	0.0746	N	0.14661	0.345	0.09310	N	0.999993	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23190	-1.0195	10	0.27082	T	0.32	.	8.9361	0.35700	0.7774:0.0:0.2226:0.0	.	117;117	Q9H422-2;Q9H422	.;HIPK3_HUMAN	R	117	ENSP00000431710:H117R;ENSP00000304226:H117R;ENSP00000368301:H117R;ENSP00000398241:H117R	ENSP00000304226:H117R	H	+	2	0	HIPK3	33264886	0.084000	0.21492	0.134000	0.22075	0.198000	0.23893	1.372000	0.34261	0.094000	0.17404	0.477000	0.44152	CAT		0.498	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		11	39	0	0	0	0	11	39				
ALKBH3	221120	broad.mit.edu	37	11	43923092	43923092	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:43923092G>C	ENST00000302708.4	+	8	897	c.486G>C	c.(484-486)aaG>aaC	p.K162N	ALKBH3_ENST00000532410.1_Intron	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	162					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	GCACACTAAAGAACCGCATTG	0.488								Direct reversal of damage																														uc001mxs.2		NA																	0					0						c.(484-486)AAG>AAC	Direct_reversal_of_damage	AlkB homolog 3	Vitamin C(DB00126)						132.0	109.0	116.0					11																	43923092		2203	4300	6503	SO:0001583	missense	221120				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:43923092G>C	AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"""Alkylation repair homologs"""	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.486G>C	11.37:g.43923092G>C	ENSP00000302232:p.Lys162Asn					ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_Missense_Mutation_p.K15N	p.K162N	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN			8	929	+			162					A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Missense_Mutation	SNP	ENST00000302708.4	37	c.486G>C	CCDS7906.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.90|18.90	3.720689|3.720689	0.68959|0.68959	.|.	.|.	ENSG00000166199|ENSG00000166199	ENST00000532129|ENST00000302708;ENST00000529366	.|T;T	.|0.11821	.|2.74;2.74	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.050421	.|0.85682	.|D	.|0.000000	T|T	0.38161|0.38161	0.1030|0.1030	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.78314	.|0.991	T|T	0.17930|0.17930	-1.0353|-1.0353	5|10	.|0.87932	.|D	.|0	-25.6803|-25.6803	11.8445|11.8445	0.52376|0.52376	0.0791:0.0:0.9209:0.0|0.0791:0.0:0.9209:0.0	.|.	.|162	.|Q96Q83	.|ALKB3_HUMAN	Q|N	32|162;161	.|ENSP00000302232:K162N;ENSP00000435848:K161N	.|ENSP00000302232:K162N	E|K	+|+	1|3	0|2	ALKBH3|ALKBH3	43879668|43879668	0.998000|0.998000	0.40836|0.40836	0.500000|0.500000	0.27589|0.27589	0.892000|0.892000	0.51952|0.51952	1.825000|1.825000	0.39081|0.39081	2.590000|2.590000	0.87494|0.87494	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.488	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389693.1	NM_139178		11	32	0	0	0	0	11	32				
NUMA1	4926	broad.mit.edu	37	11	71717271	71717271	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:71717271C>T	ENST00000393695.3	-	22	5833	c.5502G>A	c.(5500-5502)tcG>tcA	p.S1834S	NUMA1_ENST00000358965.6_Silent_p.S1820S|NUMA1_ENST00000351960.6_Silent_p.S698S	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGCTGTAGAACGATGAGTTGG	0.552			T	RARA	APL																																	uc001orl.1		NA		Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(5500-5502)TCG>TCA		nuclear mitotic apparatus protein 1							98.0	85.0	89.0					11																	71717271		2200	4293	6493	SO:0001819	synonymous_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71717271C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5502G>A	11.37:g.71717271C>T						NUMA1_uc001orj.2_Silent_p.S16S|NUMA1_uc009ysw.1_Silent_p.S1401S|NUMA1_uc001ork.1_Silent_p.S698S|NUMA1_uc001orm.1_Silent_p.S1820S	p.S1834S	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			22	5674	-			1834						Silent	SNP	ENST00000393695.3	37	c.5502G>A	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265930	0.40095	.	.	ENSG00000137497	ENST00000541584	.	.	.	5.21	3.31	0.37934	.	.	.	.	.	T	0.47563	0.1452	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31641	-0.9936	4	.	.	.	.	4.2297	0.10597	0.0765:0.139:0.4976:0.2869	.	.	.	.	H	683	.	.	R	-	2	0	NUMA1	71394919	1.000000	0.71417	0.998000	0.56505	0.606000	0.37113	1.077000	0.30741	0.343000	0.23821	-0.120000	0.15030	CGT		0.552	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			6	56	0	0	0	0	6	56				
PRDM10	56980	broad.mit.edu	37	11	129827743	129827743	+	Silent	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:129827743G>A	ENST00000360871.3	-	3	363	c.132C>T	c.(130-132)cgC>cgT	p.R44R	PRDM10_ENST00000528746.1_Silent_p.R44R|PRDM10_ENST00000358825.5_Silent_p.R44R	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	44					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GCTGTGGGGGGCGAACCTGGT	0.537																																						uc001qfm.2		NA																	0				pancreas(1)	1						c.(130-132)CGC>CGT		PR domain containing 10 isoform 1							258.0	227.0	238.0					11																	129827743		2201	4297	6498	SO:0001819	synonymous_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129827743G>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.132C>T	11.37:g.129827743G>A						PRDM10_uc001qfn.2_Silent_p.R44R|PRDM10_uc009zct.1_Silent_p.R44R	p.R44R	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	3	364	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	44					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	c.132C>T	CCDS8484.1																																																																																				0.537	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		51	182	0	0	0	0	51	182				
LRRK2	120892	broad.mit.edu	37	12	40715964	40715964	+	Silent	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr12:40715964A>T	ENST00000298910.7	+	36	5356	c.5298A>T	c.(5296-5298)acA>acT	p.T1766T		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1766					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAAAAATTACAGTTCCTTCTT	0.303																																						uc001rmg.3		NA																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(5296-5298)ACA>ACT		leucine-rich repeat kinase 2							59.0	63.0	62.0					12																	40715964		2203	4300	6503	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40715964A>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5298A>T	12.37:g.40715964A>T						LRRK2_uc009zjw.2_Silent_p.T604T|LRRK2_uc001rmi.2_Silent_p.T599T	p.T1766T	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			36	5419	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1766					A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.5298A>T	CCDS31774.1																																																																																				0.303	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		9	35	0	0	0	0	9	35				
ITGA7	3679	broad.mit.edu	37	12	56091493	56091493	+	Silent	SNP	G	G	A	rs199722672		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr12:56091493G>A	ENST00000555728.1	-	10	1555	c.1527C>T	c.(1525-1527)acC>acT	p.T509T	ITGA7_ENST00000257879.6_Silent_p.T465T|ITGA7_ENST00000553804.1_Silent_p.T469T|ITGA7_ENST00000347027.6_Silent_p.T465T|ITGA7_ENST00000394230.2_Silent_p.T469T|ITGA7_ENST00000257880.7_Silent_p.T509T|ITGA7_ENST00000452168.2_Silent_p.T372T|ITGA7_ENST00000394229.2_Silent_p.T465T			Q13683	ITA7_HUMAN	integrin, alpha 7	509					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGAGCACTGCGGTGTCAGCCA	0.597																																						uc001shh.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1405-1407)ACC>ACT		integrin alpha 7 isoform 1 precursor		G	,,	1,4405	2.1+/-5.4	0,1,2202	74.0	72.0	72.0		1407,1116,1395	-8.4	0.0	12		72	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ITGA7	NM_001144996.1,NM_001144997.1,NM_002206.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	469/1142,372/1045,465/1138	56091493	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56091493G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1527C>T	12.37:g.56091493G>A						ITGA7_uc001shg.2_Silent_p.T465T|ITGA7_uc010sps.1_Silent_p.T372T|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Silent_p.T352T	p.T469T	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			9	1627	-			509			FG-GAP 7.|Extracellular (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37	c.1407C>T																																																																																					0.597	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		19	53	0	0	0	0	19	53				
CCDC60	160777	broad.mit.edu	37	12	119917004	119917004	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr12:119917004C>G	ENST00000327554.2	+	4	912	c.447C>G	c.(445-447)caC>caG	p.H149Q	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	149										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCGAGGCTCACGTGTAAGTAG	0.478																																						uc001txe.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(445-447)CAC>CAG		coiled-coil domain containing 60							169.0	132.0	144.0					12																	119917004		2203	4300	6503	SO:0001583	missense	160777							g.chr12:119917004C>G	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.447C>G	12.37:g.119917004C>G	ENSP00000333374:p.His149Gln					uc001txf.2_Intron	p.H149Q	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	4	912	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		149						Missense_Mutation	SNP	ENST00000327554.2	37	c.447C>G	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.408899	0.25378	.	.	ENSG00000183273	ENST00000327554	T	0.20598	2.06	4.44	1.54	0.23209	.	0.362348	0.24176	N	0.040848	T	0.13628	0.0330	L	0.48877	1.53	0.41884	D	0.990337	B	0.29341	0.242	B	0.25140	0.058	T	0.09596	-1.0667	9	.	.	.	-16.8998	3.4283	0.07418	0.2025:0.5855:0.0:0.2121	.	149	Q8IWA6	CCD60_HUMAN	Q	149	ENSP00000333374:H149Q	.	H	+	3	2	CCDC60	118401387	0.145000	0.22656	0.972000	0.41901	0.161000	0.22273	-0.591000	0.05753	0.570000	0.29347	-0.143000	0.13931	CAC		0.478	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		5	28	0	0	0	0	5	28				
WDR66	144406	broad.mit.edu	37	12	122369654	122369654	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr12:122369654C>T	ENST00000288912.4	+	4	1604	c.750C>T	c.(748-750)acC>acT	p.T250T	WDR66_ENST00000397454.2_Silent_p.T250T	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	250							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TCTTCCAGACCATGACCTGGT	0.502																																					Esophageal Squamous(85;849 1794 49757 52143)	uc009zxk.2		NA																	0				ovary(1)|skin(1)	2						c.(748-750)ACC>ACT		WD repeat domain 66							89.0	83.0	85.0					12																	122369654		1943	4149	6092	SO:0001819	synonymous_variant	144406						calcium ion binding	g.chr12:122369654C>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.750C>T	12.37:g.122369654C>T							p.T250T	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	4	892	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		250					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	c.750C>T	CCDS41853.1																																																																																				0.502	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		3	25	0	0	0	0	3	25				
DNAH10	196385	broad.mit.edu	37	12	124371815	124371815	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr12:124371815G>A	ENST00000409039.3	+	51	8621	c.8596G>A	c.(8596-8598)Gct>Act	p.A2866T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2866	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGCCCATGTGGCTGAGGAGGG	0.542																																						uc001uft.3		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(8596-8598)GCT>ACT		dynein, axonemal, heavy chain 10							48.0	50.0	49.0					12																	124371815		1995	4163	6158	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124371815G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.8596G>A	12.37:g.124371815G>A	ENSP00000386770:p.Ala2866Thr						p.A2866T	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	51	8621	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2866			AAA 4 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.8596G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	32	5.148961	0.94645	.	.	ENSG00000197653	ENST00000409039	T	0.47869	0.83	5.02	5.02	0.67125	Dynein heavy chain, P-loop containing D4 domain (1);	0.076367	0.52532	U	0.000070	T	0.50514	0.1620	L	0.42245	1.32	0.58432	D	0.999998	P	0.43412	0.806	P	0.47705	0.555	T	0.38373	-0.9664	10	0.28530	T	0.3	.	18.511	0.90916	0.0:0.0:1.0:0.0	.	2866	Q8IVF4	DYH10_HUMAN	T	2866	ENSP00000386770:A2866T	ENSP00000386770:A2866T	A	+	1	0	DNAH10	122937768	1.000000	0.71417	0.995000	0.50966	0.884000	0.51177	9.657000	0.98554	2.602000	0.87976	0.591000	0.81541	GCT		0.542	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			6	30	0	0	0	0	6	30				
CKAP2	26586	broad.mit.edu	37	13	53048164	53048164	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr13:53048164A>G	ENST00000378037.5	+	8	1840	c.1750A>G	c.(1750-1752)Acg>Gcg	p.T584A	CKAP2_ENST00000258607.5_Missense_Mutation_p.T583A|CKAP2_ENST00000490903.1_Missense_Mutation_p.T535A	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CAATACAGAAACGAGGACAAG	0.328																																						uc001vgv.2		NA																	0				ovary(1)|skin(1)	2						c.(1750-1752)ACG>GCG		cytoskeleton associated protein 2 isoform 2							62.0	62.0	62.0					13																	53048164		2203	4299	6502	SO:0001583	missense	26586				apoptosis|cell cycle	centrosome|microtubule|spindle pole		g.chr13:53048164A>G	AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1750A>G	13.37:g.53048164A>G	ENSP00000367276:p.Thr584Ala					CKAP2_uc001vgu.2_Missense_Mutation_p.T583A|CKAP2_uc010tha.1_Missense_Mutation_p.T535A	p.T584A	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN		GBM - Glioblastoma multiforme(99;2.6e-08)	8	1947	+		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	584						Missense_Mutation	SNP	ENST00000378037.5	37	c.1750A>G	CCDS41893.1	.	.	.	.	.	.	.	.	.	.	.	7.414	0.635360	0.14322	.	.	ENSG00000136108	ENST00000258607;ENST00000378037;ENST00000490903	T;T;T	0.22336	1.96;1.96;1.96	5.91	0.659	0.17861	.	0.299729	0.32175	N	0.006472	T	0.19685	0.0473	M	0.62016	1.91	0.19775	N	0.99996	B;B;B	0.16802	0.004;0.019;0.019	B;B;B	0.17722	0.019;0.019;0.019	T	0.18398	-1.0338	10	0.44086	T	0.13	-2.2393	8.4882	0.33084	0.6971:0.0:0.3029:0.0	.	535;584;583	E9PD90;Q8WWK9;B2RMQ4	.;CKAP2_HUMAN;.	A	583;584;535	ENSP00000258607:T583A;ENSP00000367276:T584A;ENSP00000417830:T535A	ENSP00000258607:T583A	T	+	1	0	CKAP2	51946165	0.426000	0.25506	0.052000	0.19188	0.046000	0.14306	1.464000	0.35288	-0.082000	0.12640	-0.256000	0.11100	ACG		0.328	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2			12	43	0	0	0	0	12	43				
DACH1	1602	broad.mit.edu	37	13	72440352	72440352	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr13:72440352G>A	ENST00000359684.2	-	1	555	c.556C>T	c.(556-558)Cag>Tag	p.Q186*	DACH1_ENST00000354591.4_Nonsense_Mutation_p.Q186*|DACH1_ENST00000313174.7_Nonsense_Mutation_p.Q186*|DACH1_ENST00000305425.4_Nonsense_Mutation_p.Q186*			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	186					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCATTATTCTGAGGGGTGTTT	0.607																																						uc010thn.1		NA																	0				breast(1)	1						c.(550-552)CAG>TAG		dachshund homolog 1 isoform a							37.0	38.0	37.0					13																	72440352		1960	4140	6100	SO:0001587	stop_gained	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72440352G>A	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.556C>T	13.37:g.72440352G>A	ENSP00000352712:p.Gln186*					DACH1_uc010tho.1_Nonsense_Mutation_p.Q184*|DACH1_uc010thp.1_Nonsense_Mutation_p.Q184*	p.Q184*	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	2	973	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	184					D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Nonsense_Mutation	SNP	ENST00000359684.2	37	c.550C>T		.	.	.	.	.	.	.	.	.	.	G	42	9.394306	0.99158	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	.	.	.	3.9	3.9	0.45041	.	0.072072	0.56097	U	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-4.6946	15.4772	0.75493	0.0:0.0:1.0:0.0	.	.	.	.	X	186	.	ENSP00000304994:Q186X	Q	-	1	0	DACH1	71338353	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.828000	0.92047	1.709000	0.51313	0.305000	0.20034	CAG		0.607	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		7	21	0	0	0	0	7	21				
MYCBP2	23077	broad.mit.edu	37	13	77625998	77625998	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr13:77625998T>C	ENST00000544440.2	-	81	13606	c.13589A>G	c.(13588-13590)tAt>tGt	p.Y4530C	MYCBP2_ENST00000357337.6_Missense_Mutation_p.Y4530C|MYCBP2_ENST00000407578.2_Missense_Mutation_p.Y4568C					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCTGGGATCATAATCATCTCC	0.428																																						uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(13588-13590)TAT>TGT		MYC binding protein 2							82.0	79.0	80.0					13																	77625998		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77625998T>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13589A>G	13.37:g.77625998T>C	ENSP00000444596:p.Tyr4530Cys					MYCBP2_uc010aev.2_Missense_Mutation_p.Y3934C|MYCBP2_uc001vke.2_Missense_Mutation_p.Y1147C	p.Y4530C	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	82	13680	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4530						Missense_Mutation	SNP	ENST00000544440.2	37	c.13589A>G		.	.	.	.	.	.	.	.	.	.	T	26.5	4.746764	0.89663	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.31769	1.48;1.48;1.48	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.54854	0.1884	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.58222	-0.7674	10	0.87932	D	0	.	15.9625	0.79941	0.0:0.0:0.0:1.0	.	4530	O75592	MYCB2_HUMAN	C	4530;4568;4530	ENSP00000349892:Y4530C;ENSP00000384288:Y4568C;ENSP00000444596:Y4530C	ENSP00000349892:Y4530C	Y	-	2	0	MYCBP2	76523999	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.459000	0.80802	2.166000	0.68216	0.529000	0.55759	TAT		0.428	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		7	22	0	0	0	0	7	22				
MYCBP2	23077	broad.mit.edu	37	13	77672743	77672743	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr13:77672743T>C	ENST00000544440.2	-	56	8449	c.8432A>G	c.(8431-8433)aAt>aGt	p.N2811S	MYCBP2_ENST00000360084.5_Missense_Mutation_p.N334S|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.N2811S|MYCBP2_ENST00000407578.2_Missense_Mutation_p.N2849S|MYCBP2-AS1_ENST00000593933.1_RNA					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTGAGGTAGATTTTTATCATG	0.483																																						uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(8431-8433)AAT>AGT		MYC binding protein 2							155.0	153.0	154.0					13																	77672743		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77672743T>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8432A>G	13.37:g.77672743T>C	ENSP00000444596:p.Asn2811Ser					MYCBP2_uc010aev.2_Missense_Mutation_p.N2215S|MYCBP2_uc001vkg.1_Missense_Mutation_p.N334S|MYCBP2_uc010aew.2_Missense_Mutation_p.N197S	p.N2811S	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	57	8523	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2811						Missense_Mutation	SNP	ENST00000544440.2	37	c.8432A>G		.	.	.	.	.	.	.	.	.	.	T	10.83	1.462324	0.26248	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.46451	1.72;1.72;1.72;0.87	5.45	1.31	0.21738	.	0.194470	0.52532	D	0.000065	T	0.17916	0.0430	N	0.12182	0.205	0.34028	D	0.653497	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.15052	0.012;0.001;0.0	T	0.08310	-1.0728	10	0.21014	T	0.42	.	2.5391	0.04722	0.115:0.1519:0.411:0.322	.	197;2811;2811	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	S	2811;2849;2811;334	ENSP00000349892:N2811S;ENSP00000384288:N2849S;ENSP00000444596:N2811S;ENSP00000353197:N334S	ENSP00000349892:N2811S	N	-	2	0	MYCBP2	76570744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.087000	0.30865	0.350000	0.24002	0.482000	0.46254	AAT		0.483	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		22	56	0	0	0	0	22	56				
SPRY2	10253	broad.mit.edu	37	13	80911560	80911560	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr13:80911560A>C	ENST00000377102.1	-	2	1258	c.281T>G	c.(280-282)cTc>cGc	p.L94R	SPRY2_ENST00000377104.3_Missense_Mutation_p.L94R|SPRY2_ENST00000540649.1_Missense_Mutation_p.L94R			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	94					bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CGAGTGCTGGAGCCTAGGAGG	0.622																																						uc001vli.2		NA																	0				ovary(1)|lung(1)	2						c.(280-282)CTC>CGC		sprouty 2							85.0	82.0	83.0					13																	80911560		2203	4300	6503	SO:0001583	missense	10253				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity	g.chr13:80911560A>C	AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.281T>G	13.37:g.80911560A>C	ENSP00000366306:p.Leu94Arg					SPRY2_uc001vlj.2_Missense_Mutation_p.L94R	p.L94R	NM_005842	NP_005833	O43597	SPY2_HUMAN		GBM - Glioblastoma multiforme(99;0.0318)	2	1259	-	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)	94					B2R9J9|Q5T6Z7	Missense_Mutation	SNP	ENST00000377102.1	37	c.281T>G	CCDS9463.1	.	.	.	.	.	.	.	.	.	.	A	9.697	1.153552	0.21371	.	.	ENSG00000136158	ENST00000377104;ENST00000377102;ENST00000541655;ENST00000540649	T;T;T	0.57273	0.41;0.41;0.41	5.48	2.86	0.33363	.	0.986310	0.08291	N	0.968494	T	0.39118	0.1066	L	0.29908	0.895	0.37651	D	0.922418	B	0.14438	0.01	B	0.14578	0.011	T	0.18935	-1.0321	10	0.34782	T	0.22	.	5.8862	0.18882	0.7105:0.1373:0.1522:0.0	.	94	O43597	SPY2_HUMAN	R	94	ENSP00000366308:L94R;ENSP00000366306:L94R;ENSP00000439027:L94R	ENSP00000366306:L94R	L	-	2	0	SPRY2	79809561	1.000000	0.71417	0.994000	0.49952	0.933000	0.57130	2.076000	0.41548	0.305000	0.22832	0.533000	0.62120	CTC		0.622	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1			17	62	0	0	0	0	17	62				
OR4N5	390437	broad.mit.edu	37	14	20612330	20612330	+	Silent	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr14:20612330T>C	ENST00000333629.1	+	1	436	c.436T>C	c.(436-438)Ttg>Ctg	p.L146L	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGCATTATCGTTGGTTCTGTG	0.498																																						uc010tla.1		NA																	0				ovary(1)	1						c.(436-438)TTG>CTG		olfactory receptor, family 4, subfamily N,							164.0	159.0	161.0					14																	20612330		2203	4300	6503	SO:0001819	synonymous_variant	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612330T>C		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.436T>C	14.37:g.20612330T>C							p.L146L	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	436	+	all_cancers(95;0.00108)		146			Helical; Name=4; (Potential).		Q6IF11	Silent	SNP	ENST00000333629.1	37	c.436T>C	CCDS32031.1																																																																																				0.498	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			12	117	0	0	0	0	12	117				
CHURC1	91612	broad.mit.edu	37	14	65390788	65390788	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr14:65390788T>C	ENST00000549115.1	+	2	254	c.200T>C	c.(199-201)cTg>cCg	p.L67P	CHURC1-FNTB_ENST00000549987.1_Missense_Mutation_p.L41P|CHURC1_ENST00000552002.2_Missense_Mutation_p.L40P|CHURC1_ENST00000359118.2_Missense_Mutation_p.L40P|CHURC1_ENST00000548752.2_Missense_Mutation_p.L67P|FNTB_ENST00000447296.2_Missense_Mutation_p.L40P|FNTB_ENST00000542227.1_5'UTR|CHURC1_ENST00000607599.1_Missense_Mutation_p.L67P			Q8WUH1	CHUR_HUMAN	churchill domain containing 1	67					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)			breast(1)|pancreas(1)	2				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)		GATTTTATGCTGATCACAAAC	0.383																																						uc010tsl.1		NA																	0				ovary(1)	1						c.(118-120)CTG>CCG		farnesyltransferase, CAAX box, beta							103.0	104.0	104.0					14																	65390788		2203	4300	6503	SO:0001583	missense	2342				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity	g.chr14:65390788T>C	AF060510	CCDS32101.1, CCDS32101.2, CCDS55921.1, CCDS55922.1	14q23.3	2011-09-28	2004-05-05	2004-05-07	ENSG00000258289	ENSG00000258289			20099	protein-coding gene	gene with protein product		608577		C14orf52			Standard	NM_145165		Approved	My015, FLJ33064		Q8WUH1	OTTHUMG00000170218	ENST00000549115.1:c.200T>C	14.37:g.65390788T>C	ENSP00000448050:p.Leu67Pro					CHURC1_uc010tsj.1_Missense_Mutation_p.L40P|CHURC1_uc010tsk.1_RNA|FNTB_uc010tsm.1_5'UTR|CHURC1_uc001xhv.1_Missense_Mutation_p.L40P|CHURC1_uc001xhw.1_Missense_Mutation_p.L40P	p.L40P	NM_002028	NP_002019	P49356	FNTB_HUMAN		all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)	2	193	+			Error:Variant_position_missing_in_P49356_after_alignment					B3KQ81|G3V1X3|G3V214|Q9H3K7	Missense_Mutation	SNP	ENST00000549115.1	37	c.119T>C	CCDS55921.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.1|22.1	4.250162|4.250162	0.80024|0.80024	.|.	.|.	ENSG00000258289;ENSG00000258289;ENSG00000258289;ENSG00000258289;ENSG00000125954;ENSG00000125954;ENSG00000125954|ENSG00000258289	ENST00000552002;ENST00000549115;ENST00000548752;ENST00000359118;ENST00000549987;ENST00000447296;ENST00000553743|ENST00000551947;ENST00000547625	.|.	.|.	.|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.067405|.	0.64402|.	D|.	0.000010|.	T|.	0.73837|.	0.3638|.	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	P;D;P;D|.	0.76494|.	0.921;0.999;0.851;0.997|.	P;D;P;D|.	0.72338|.	0.84;0.977;0.81;0.962|.	T|.	0.73688|.	-0.3904|.	9|.	0.42905|.	T|.	0.14|.	-1.9462|-1.9462	15.3148|15.3148	0.74065|0.74065	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	40;40;40;67|.	B4DL54;B7Z3N2;Q8WUH1;G3V214|.	.;.;CHUR_HUMAN;.|.	P|R	67;67;67;40;41;40;12|58;21	.|.	ENSP00000352026:L40P|.	L|X	+|+	2|1	0|0	FNTB;CHURC1|CHURC1	64460541|64460541	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	6.790000|6.790000	0.75115|0.75115	2.251000|2.251000	0.74343|0.74343	0.528000|0.528000	0.53228|0.53228	CTG|TGA		0.383	CHURC1-002	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408062.1	NM_145165		14	63	0	0	0	0	14	63				
PRR35	146325	broad.mit.edu	37	16	614994	614994	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:614994C>G	ENST00000409413.3	+	3	1682	c.1403C>G	c.(1402-1404)tCt>tGt	p.S468C	PIGQ_ENST00000409527.2_5'Flank|NHLRC4_ENST00000540585.1_5'Flank|NHLRC4_ENST00000424439.2_5'Flank	NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		468										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CTCGACCTCTCTGTGAAACGT	0.726																																						uc002chk.2		NA																	0				central_nervous_system(1)	1						c.(1402-1404)TCT>TGT		hypothetical protein LOC146325							6.0	8.0	7.0					16																	614994		1682	3798	5480	SO:0001583	missense	146325							g.chr16:614994C>G																												ENST00000409413.3:c.1403C>G	16.37:g.614994C>G	ENSP00000386499:p.Ser468Cys					NHLRC4_uc002chl.2_5'Flank|PIGQ_uc010bqw.2_5'Flank	p.S468C	NM_145270	NP_660313	P0CG20	CP011_HUMAN			3	1682	+			468					B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	c.1403C>G	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182079	0.57800	.	.	ENSG00000161992	ENST00000409413	T	0.12984	2.63	4.47	4.47	0.54385	.	0.382569	0.19771	N	0.106431	T	0.36220	0.0959	M	0.68952	2.095	0.46631	D	0.999133	D	0.89917	1.0	D	0.78314	0.991	T	0.13282	-1.0515	10	0.72032	D	0.01	.	15.8671	0.79074	0.0:1.0:0.0:0.0	.	468	P0CG20	CP011_HUMAN	C	468	ENSP00000386499:S468C	ENSP00000386499:S468C	S	+	2	0	C16orf11	554995	1.000000	0.71417	0.998000	0.56505	0.052000	0.14988	5.483000	0.66838	2.311000	0.77944	0.491000	0.48974	TCT		0.726	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			3	13	0	0	0	0	3	13				
USP31	57478	broad.mit.edu	37	16	23117549	23117549	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:23117549G>A	ENST00000219689.7	-	4	937	c.938C>T	c.(937-939)cCt>cTt	p.P313L		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTGGGGCAGAGGAATTGGCAA	0.388																																						uc002dll.2		NA																	0				ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10						c.(937-939)CCT>CTT		ubiquitin specific peptidase 31							104.0	105.0	105.0					16																	23117549		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23117549G>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.938C>T	16.37:g.23117549G>A	ENSP00000219689:p.Pro313Leu						p.P313L	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	4	938	-			313					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.938C>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828169	0.90955	.	.	ENSG00000103404	ENST00000219689	T	0.03468	3.92	5.82	5.82	0.92795	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.130242	0.52532	D	0.000076	T	0.27027	0.0662	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04268	-1.0964	10	0.66056	D	0.02	-15.1399	19.0872	0.93209	0.0:0.0:1.0:0.0	.	313	Q70CQ4	UBP31_HUMAN	L	313	ENSP00000219689:P313L	ENSP00000219689:P313L	P	-	2	0	USP31	23025050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.414000	0.97362	2.752000	0.94435	0.655000	0.94253	CCT		0.388	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		9	46	0	0	0	0	9	46				
HIRIP3	8479	broad.mit.edu	37	16	30002109	30002109	+	IGR	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:30002109G>A	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Missense_Mutation_p.R817Q	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CCCCAGCTGCGGCTTGATGAG	0.592																																						uc002dvc.1		NA																	0				ovary(1)	1						c.(2449-2451)CGG>CAG		TAO kinase 2 isoform 1							41.0	47.0	45.0					16																	30002109		2195	4295	6490	SO:0001628	intergenic_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:30002109G>A	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002109G>A						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	p.R817Q	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN			18	3233	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.2450G>A	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778032	0.70107	.	.	ENSG00000149930	ENST00000279394	T	0.72942	-0.7	4.87	4.87	0.63330	.	.	.	.	.	D	0.83289	0.5222	M	0.77313	2.365	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	D	0.84188	0.0443	8	.	.	.	.	16.9296	0.86187	0.0:0.0:1.0:0.0	.	817	Q9UL54-2	.	Q	817	ENSP00000279394:R817Q	.	R	+	2	0	TAOK2	29909610	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	9.595000	0.98260	2.528000	0.85240	0.563000	0.77884	CGG		0.592	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		18	48	0	0	0	0	18	48				
CHD9	80205	broad.mit.edu	37	16	53289642	53289642	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:53289642C>T	ENST00000398510.3	+	18	4247	c.4160C>T	c.(4159-4161)aCa>aTa	p.T1387I	CHD9_ENST00000447540.1_Missense_Mutation_p.T1387I|CHD9_ENST00000564845.1_Missense_Mutation_p.T1387I|CHD9_ENST00000566029.1_Missense_Mutation_p.T1387I			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1387					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CTACGTCGTACAAAAACTATT	0.393																																						uc002ehb.2		NA																	0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(4159-4161)ACA>ATA		chromodomain helicase DNA binding protein 9							182.0	175.0	177.0					16																	53289642		1859	4111	5970	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53289642C>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4160C>T	16.37:g.53289642C>T	ENSP00000381522:p.Thr1387Ile					CHD9_uc002egy.2_Missense_Mutation_p.T1387I|CHD9_uc002ehc.2_Missense_Mutation_p.T1387I|CHD9_uc002ehf.2_Missense_Mutation_p.T501I|CHD9_uc002ehd.2_Missense_Mutation_p.T913I	p.T1387I	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			18	4324	+		all_cancers(37;0.0212)	1387					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.4160C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.217310	0.95104	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.84800	-1.9;-1.9	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000020	D	0.94278	0.8162	M	0.91561	3.22	0.80722	D	1	D;D;D;D	0.89917	0.981;1.0;0.998;0.999	D;D;D;D	0.80764	0.917;0.994;0.987;0.994	D	0.95058	0.8193	10	0.87932	D	0	-16.1842	19.5223	0.95190	0.0:1.0:0.0:0.0	.	913;1387;1387;1387	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	I	1387;1387;913	ENSP00000396345:T1387I;ENSP00000381522:T1387I	ENSP00000219084:T913I	T	+	2	0	CHD9	51847143	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	2.606000	0.88127	0.650000	0.86243	ACA		0.393	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		21	197	0	0	0	0	21	197				
HERPUD1	9709	broad.mit.edu	37	16	56974084	56974084	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:56974084C>T	ENST00000439977.2	+	6	1029	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000379792.2_Missense_Mutation_p.L253F|HERPUD1_ENST00000300302.5_Missense_Mutation_p.L277F|RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000570273.1_Intron|HERPUD1_ENST00000344114.4_Intron	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	278					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TTCTGTTTTTCTCAGTATCCT	0.433			T	ERG	prostate																																	uc002eke.1		NA		Dom	yes		16	16q12.2-q13	9709	T	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""			E	ERG		prostate		0					0						c.(832-834)CTC>TTC		homocysteine-inducible, endoplasmic reticulum							235.0	218.0	224.0					16																	56974084		2198	4300	6498	SO:0001583	missense	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56974084C>T	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.832C>T	16.37:g.56974084C>T	ENSP00000409555:p.Leu278Phe					HERPUD1_uc002ekf.1_Missense_Mutation_p.L277F|HERPUD1_uc002ekg.1_Missense_Mutation_p.L253F|HERPUD1_uc010cco.1_Intron|HERPUD1_uc010ccp.1_Intron|HERPUD1_uc002ekh.1_Missense_Mutation_p.L96F	p.L278F	NM_014685	NP_055500	Q15011	HERP1_HUMAN			6	1241	+			278			Helical; (Potential).		E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	ENST00000439977.2	37	c.832C>T	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429637	0.83776	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302	T	0.23950	1.88	5.74	5.74	0.90152	.	0.057444	0.64402	D	0.000001	T	0.45418	0.1341	L	0.53249	1.67	0.80722	D	1	P;D;D	0.76494	0.853;0.999;0.999	B;D;D	0.74348	0.376;0.983;0.961	T	0.10706	-1.0618	10	0.36615	T	0.2	-13.8979	15.2028	0.73153	0.0:0.8492:0.1508:0.0	.	253;277;278	E9PGD1;Q15011-2;Q15011	.;.;HERP1_HUMAN	F	277;253;278	ENSP00000369118:L253F	ENSP00000300302:L278F	L	+	1	0	HERPUD1	55531585	0.991000	0.36638	0.999000	0.59377	0.998000	0.95712	2.693000	0.47027	2.707000	0.92482	0.655000	0.94253	CTC		0.433	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			81	70	0	0	0	0	81	70				
FAM192A	80011	broad.mit.edu	37	16	57188404	57188404	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:57188404T>G	ENST00000309137.8	-	7	821	c.563A>C	c.(562-564)aAg>aCg	p.K188T	FAM192A_ENST00000566077.1_Missense_Mutation_p.K111T|FAM192A_ENST00000569266.1_Missense_Mutation_p.K188T|FAM192A_ENST00000567439.1_Missense_Mutation_p.K188T|FAM192A_ENST00000389447.5_Missense_Mutation_p.K188T|FAM192A_ENST00000564108.1_Missense_Mutation_p.K188T	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	188						nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						TCCGAGAGACTTGCAGGATGA	0.557																																						uc010vhk.1		NA																	0					0						c.(562-564)AAG>ACG		NEFA-interacting nuclear protein NIP30							34.0	38.0	37.0					16																	57188404		1976	4161	6137	SO:0001583	missense	80011					nucleus		g.chr16:57188404T>G		CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775			29856	protein-coding gene	gene with protein product	"""NEFA interacting nuclear protein NIP30"""		"""chromosome 16 open reading frame 94"""	C16orf94		12477932	Standard	NM_024946		Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000309137.8:c.563A>C	16.37:g.57188404T>G	ENSP00000335808:p.Lys188Thr					FAM192A_uc002ekz.3_Missense_Mutation_p.K187T|FAM192A_uc002ekv.3_Missense_Mutation_p.K110T|FAM192A_uc002ekw.3_Missense_Mutation_p.K187T|FAM192A_uc002ekx.3_Missense_Mutation_p.K187T|FAM192A_uc002eky.3_Missense_Mutation_p.K187T	p.K188T	NM_024946	NP_079222	Q9GZU8	F192A_HUMAN			7	822	-			188						Missense_Mutation	SNP	ENST00000309137.8	37	c.563A>C	CCDS42168.1	.	.	.	.	.	.	.	.	.	.	T	7.072	0.568591	0.13560	.	.	ENSG00000172775	ENST00000309137;ENST00000389447	.	.	.	5.15	2.9	0.33743	.	0.976542	0.08491	N	0.938050	T	0.28732	0.0712	L	0.34521	1.04	0.24883	N	0.992217	B	0.12630	0.006	B	0.08055	0.003	T	0.31194	-0.9952	9	0.15066	T	0.55	-27.5249	5.6964	0.17857	0.7536:0.0:0.0813:0.165	.	188	Q9GZU8	F192A_HUMAN	T	188	.	ENSP00000335808:K188T	K	-	2	0	FAM192A	55745905	0.558000	0.26554	0.643000	0.29450	0.898000	0.52572	2.329000	0.43876	0.414000	0.25790	0.460000	0.39030	AAG		0.557	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433022.2	NM_024946		8	35	0	0	0	0	8	35				
CDH3	1001	broad.mit.edu	37	16	68712178	68712178	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:68712178C>G	ENST00000264012.4	+	4	932	c.388C>G	c.(388-390)Cag>Gag	p.Q130E	CDH3_ENST00000429102.2_Missense_Mutation_p.Q130E|CDH3_ENST00000581171.1_Missense_Mutation_p.Q75E	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	130	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GAGACTGAATCAGGTACGACT	0.527																																						uc002ewf.2		NA																	2	Unknown(2)	p.?(1)	breast(2)	ovary(3)|breast(1)|skin(1)	5						c.(388-390)CAG>GAG		cadherin 3, type 1 preproprotein							95.0	91.0	93.0					16																	68712178		2198	4300	6498	SO:0001583	missense	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68712178C>G	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.388C>G	16.37:g.68712178C>G	ENSP00000264012:p.Gln130Glu					CDH3_uc010vli.1_Missense_Mutation_p.Q75E	p.Q130E	NM_001793	NP_001784	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	4	1520	+		Ovarian(137;0.0564)	130			Cadherin 1.|Extracellular (Potential).		B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	c.388C>G	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650804	0.87958	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.51817	0.69;0.69	5.95	5.95	0.96441	Cadherin (3);Cadherin-like (1);	0.000000	0.37809	N	0.001927	T	0.68860	0.3047	M	0.78344	2.41	0.58432	D	0.999991	D	0.67145	0.996	P	0.62885	0.908	T	0.71104	-0.4689	10	0.72032	D	0.01	.	17.8859	0.88854	0.0:1.0:0.0:0.0	.	130	P22223	CADH3_HUMAN	E	130;130;75	ENSP00000398485:Q130E;ENSP00000264012:Q130E	ENSP00000264012:Q130E	Q	+	1	0	CDH3	67269679	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	5.245000	0.65405	2.822000	0.97130	0.650000	0.86243	CAG		0.527	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		9	34	0	0	0	0	9	34				
RAP1GAP2	23108	broad.mit.edu	37	17	2867251	2867251	+	Silent	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr17:2867251G>C	ENST00000254695.8	+	7	471	c.381G>C	c.(379-381)ggG>ggC	p.G127G	CTD-3060P21.1_ENST00000574885.1_RNA|RAP1GAP2_ENST00000366401.4_Silent_p.G112G|RAP1GAP2_ENST00000540393.2_Silent_p.G108G|RAP1GAP2_ENST00000542807.1_Silent_p.G127G	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	127					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CATCGCTGGGGAGCAGCATCT	0.602																																						uc010ckd.2		NA																	0				ovary(1)	1						c.(379-381)GGG>GGC		RAP1 GTPase activating protein 2 isoform 1							47.0	51.0	50.0					17																	2867251		2102	4225	6327	SO:0001819	synonymous_variant	23108				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	g.chr17:2867251G>C	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.381G>C	17.37:g.2867251G>C						RAP1GAP2_uc010cke.2_Silent_p.G112G	p.G127G	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN			7	471	+			127					B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Silent	SNP	ENST00000254695.8	37	c.381G>C	CCDS45573.1																																																																																				0.602	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			11	35	0	0	0	0	11	35				
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	T	rs28934874|rs137852790|rs137852791		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr17:7578479G>T	ENST00000269305.4	-	5	640	c.451C>A	c.(451-453)Ccc>Acc	p.P151T	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P151T|TP53_ENST00000359597.4_Missense_Mutation_p.P151T|TP53_ENST00000413465.2_Missense_Mutation_p.P151T|TP53_ENST00000445888.2_Missense_Mutation_p.P151T|TP53_ENST00000420246.2_Missense_Mutation_p.P151T	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	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in LFS; germline mutation and 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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)	CCGGGCGGGGGTGTGGAATCA	0.612		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		156	Substitution - Missense(107)|Deletion - Frameshift(23)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(6)|Unknown(5)	p.P151S(61)|p.P151H(25)|p.P151T(13)|p.P151P(12)|p.P151A(10)|p.P152fs*18(9)|p.0?(7)|p.P151fs*30(7)|p.P151L(6)|p.P151R(6)|p.T150fs*16(3)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P58A(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P19A(1)|p.P152fs*14(1)|p.T150_P151delTP(1)	upper_aerodigestive_tract(20)|large_intestine(17)|ovary(16)|lung(15)|oesophagus(12)|endometrium(11)|stomach(9)|breast(9)|central_nervous_system(7)|liver(7)|skin(7)|haematopoietic_and_lymphoid_tissue(5)|soft_tissue(4)|urinary_tract(4)|prostate(4)|bone(4)|vulva(2)|pancreas(2)|biliary_tract(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	GRCh37	CM012662|CM941326	TP53	M	rs28934874	c.(451-453)CCC>ACC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							55.0	55.0	55.0					17																	7578479		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578479G>T	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.451C>A	17.37:g.7578479G>T	ENSP00000269305:p.Pro151Thr	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.P151T|TP53_uc002gih.2_Missense_Mutation_p.P151T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P19T|TP53_uc010cng.1_Missense_Mutation_p.P19T|TP53_uc002gii.1_Missense_Mutation_p.P19T|TP53_uc010cnh.1_Missense_Mutation_p.P151T|TP53_uc010cni.1_Missense_Mutation_p.P151T|TP53_uc002gij.2_Missense_Mutation_p.P151T|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P58T|TP53_uc002gio.2_Missense_Mutation_p.P19T|TP53_uc010vug.1_Missense_Mutation_p.P112T	p.P151T	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	645	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	151		P -> R (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and 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.451C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136405	0.56936	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99884	-7.49;-7.49;-7.49;-7.49;-7.49;-7.49;-7.49;-7.49;-7.49	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99894	0.9949	M	0.87038	2.855	0.54753	D	0.999983	D;P;D;D;P;P;D	0.89917	0.999;0.711;0.994;0.982;0.882;0.755;1.0	D;P;D;D;P;P;D	0.97110	0.981;0.749;0.961;0.954;0.736;0.837;1.0	D	0.96419	0.9310	10	0.87932	D	0	-14.1156	17.4784	0.87667	0.0:0.0:1.0:0.0	rs28934874	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151T;ENSP00000352610:P151T;ENSP00000269305:P151T;ENSP00000398846:P151T;ENSP00000391127:P151T;ENSP00000391478:P151T;ENSP00000425104:P19T;ENSP00000423862:P58T;ENSP00000424104:P151T	ENSP00000269305:P151T	P	-	1	0	TP53	7519204	1.000000	0.71417	0.971000	0.41717	0.067000	0.16453	7.823000	0.86660	2.804000	0.96469	0.655000	0.94253	CCC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	33	1	0	3.65e-15	4.19e-15	25	33				
SLC47A2	146802	broad.mit.edu	37	17	19605988	19605988	+	Splice_Site	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr17:19605988C>G	ENST00000325411.5	-	13	1253		c.e13-1		SLC47A2_ENST00000463318.1_Splice_Site|SLC47A2_ENST00000350657.5_Splice_Site	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	AATGACATCTCTGCAGAAGAA	0.453																																						uc002gwe.3		NA																	0					0						c.e13-1		solute carrier family 47, member 2 isoform 1							91.0	72.0	78.0					17																	19605988		2203	4300	6503	SO:0001630	splice_region_variant	146802					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19605988C>G	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.1203-1G>C	17.37:g.19605988C>G						SLC47A2_uc002gwg.3_Splice_Site_p.E365_splice|SLC47A2_uc002gwf.3_Splice_Site_p.E379_splice|SLC47A2_uc002gwh.3_Splice_Site|SLC47A2_uc002gwi.2_Splice_Site|SLC47A2_uc010cqs.1_Splice_Site	p.E401_splice	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN			13	1378	-	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)							A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Splice_Site	SNP	ENST00000325411.5	37	c.1203_splice	CCDS11211.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968957	0.34754	.	.	ENSG00000180638	ENST00000350657;ENST00000325411	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7444	0.69480	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC47A2	19546580	1.000000	0.71417	0.972000	0.41901	0.312000	0.27988	5.303000	0.65738	2.062000	0.61559	0.462000	0.41574	.		0.453	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	NM_152908	Intron	6	13	0	0	0	0	6	13				
ADCYAP1	116	broad.mit.edu	37	18	909585	909585	+	Missense_Mutation	SNP	G	G	C	rs369209323		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr18:909585G>C	ENST00000579794.1	+	4	758	c.480G>C	c.(478-480)aaG>aaC	p.K160N	RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000581719.2_RNA|ADCYAP1_ENST00000450565.3_Missense_Mutation_p.K160N	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	160					activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TCCTAGGGAAGAGGTATAAAC	0.507																																						uc010dkg.2		NA																	0					0						c.(478-480)AAG>AAC		adenylate cyclase activating polypeptide							110.0	128.0	122.0					18																	909585		2203	4300	6503	SO:0001583	missense	116				activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	g.chr18:909585G>C	S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"""Endogenous ligands"""	241	protein-coding gene	gene with protein product	"""prepro-PACAP"""	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.480G>C	18.37:g.909585G>C	ENSP00000462647:p.Lys160Asn					ADCYAP1_uc010dkh.2_Missense_Mutation_p.K160N	p.K160N	NM_001099733	NP_001093203	P18509	PACA_HUMAN			5	599	+			160					B2R7N4|Q52LQ0	Missense_Mutation	SNP	ENST00000579794.1	37	c.480G>C	CCDS11825.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.394581	0.42512	.	.	ENSG00000141433	ENST00000450565;ENST00000400219;ENST00000269200	.	.	.	5.17	5.17	0.71159	.	0.096084	0.64402	D	0.000001	T	0.66896	0.2836	L	0.42245	1.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.71414	0.973	T	0.67185	-0.5734	9	0.66056	D	0.02	.	11.0189	0.47707	0.9264:0.0:0.0736:0.0	.	160	P18509	PACA_HUMAN	N	299;160;160	.	ENSP00000269200:K160N	K	+	3	2	ADCYAP1	899585	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	5.367000	0.66127	0.799000	0.34018	-0.269000	0.10298	AAG		0.507	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117		13	194	0	0	0	0	13	194				
ANKRD12	23253	broad.mit.edu	37	18	9257171	9257171	+	Silent	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr18:9257171A>G	ENST00000262126.4	+	9	4146	c.3906A>G	c.(3904-3906)agA>agG	p.R1302R	ANKRD12_ENST00000383440.2_Silent_p.R1279R|RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000400020.3_Silent_p.R1279R	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1302						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GCGAGGGGAGACCTACCATAG	0.398																																						uc002knv.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3904-3906)AGA>AGG		ankyrin repeat domain 12 isoform 1							94.0	91.0	92.0					18																	9257171		2203	4300	6503	SO:0001819	synonymous_variant	23253					nucleus		g.chr18:9257171A>G	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.3906A>G	18.37:g.9257171A>G						ANKRD12_uc002knw.2_Silent_p.R1279R|ANKRD12_uc002knx.2_Silent_p.R1279R|ANKRD12_uc010dkx.1_Silent_p.R1009R	p.R1302R	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			9	4163	+			1302					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	c.3906A>G	CCDS11843.1																																																																																				0.398	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		50	70	0	0	0	0	50	70				
MIB1	57534	broad.mit.edu	37	18	19424087	19424087	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr18:19424087A>T	ENST00000261537.6	+	15	2348	c.2084A>T	c.(2083-2085)cAg>cTg	p.Q695L	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	695					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CTTGATATTCAGGATAAGGAT	0.433																																						uc002ktq.2		NA																	0				ovary(4)	4						c.(2083-2085)CAG>CTG		mindbomb homolog 1							176.0	151.0	159.0					18																	19424087		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19424087A>T	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.2084A>T	18.37:g.19424087A>T	ENSP00000261537:p.Gln695Leu					MIB1_uc002ktp.2_Missense_Mutation_p.Q334L	p.Q695L	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		15	2084	+			695					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.2084A>T	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.732565	0.89482	.	.	ENSG00000101752	ENST00000261537	T	0.67865	-0.29	5.48	5.48	0.80851	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	N	0.10664	0.02	0.80722	D	1	P	0.38280	0.625	B	0.34991	0.193	T	0.50668	-0.8801	10	0.31617	T	0.26	-9.5158	15.5678	0.76306	1.0:0.0:0.0:0.0	.	695	Q86YT6	MIB1_HUMAN	L	695	ENSP00000261537:Q695L	ENSP00000261537:Q695L	Q	+	2	0	MIB1	17678085	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.710000	0.91388	2.081000	0.62600	0.482000	0.46254	CAG		0.433	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		7	63	0	0	0	0	7	63				
CTIF	9811	broad.mit.edu	37	18	46238063	46238063	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr18:46238063G>A	ENST00000256413.3	+	7	876	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	CTIF_ENST00000382998.4_Missense_Mutation_p.R194Q	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	194	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						AGAAATGATCGAAGGTAGGAG	0.547											OREG0024973	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ldc.2		NA																	0					0						c.(580-582)CGA>CAA		hypothetical protein LOC9811 isoform 1							187.0	169.0	175.0					18																	46238063		2203	4300	6503	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46238063G>A	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.581G>A	18.37:g.46238063G>A	ENSP00000256413:p.Arg194Gln		OREG0024973	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	937	KIAA0427_uc002ldd.2_Missense_Mutation_p.R194Q	p.R194Q	NM_014772	NP_055587	O43310	CTIF_HUMAN			7	866	+			194			Interaction with NCBP1/CBP80.		B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.581G>A	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406802	0.62399	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.57907	0.37;0.4	5.1	5.1	0.69264	.	0.185507	0.33875	N	0.004464	T	0.40522	0.1120	L	0.42245	1.32	0.43703	D	0.996163	P;P	0.44006	0.824;0.73	B;B	0.28139	0.086;0.04	T	0.49409	-0.8943	10	0.52906	T	0.07	-14.471	15.7973	0.78423	0.0:0.0:1.0:0.0	.	194;194	O43310-2;O43310	.;CTIF_HUMAN	Q	194;194;146	ENSP00000256413:R194Q;ENSP00000372459:R194Q	ENSP00000256413:R194Q	R	+	2	0	CTIF	44492061	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	5.541000	0.67212	2.537000	0.85549	0.561000	0.74099	CGA		0.547	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		32	71	0	0	0	0	32	71				
WDR18	57418	broad.mit.edu	37	19	985937	985937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:985937G>A	ENST00000251289.5	+	2	306	c.283G>A	c.(283-285)Gtc>Atc	p.V95I	WDR18_ENST00000587001.2_Missense_Mutation_p.V95I|WDR18_ENST00000591997.1_3'UTR	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	95					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V95I(1)		endometrium(1)|kidney(2)|lung(2)|skin(2)	7		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)		TGGTCTCTACGTCCTGGCAGG	0.572																																						uc002lqm.1		NA																	1	Substitution - Missense(1)		endometrium(1)	skin(1)	1						c.(283-285)GTC>ATC		WD repeat domain 18							125.0	101.0	109.0					19																	985937		2203	4300	6503	SO:0001583	missense	57418							g.chr19:985937G>A		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"""WD repeat domain containing"""	17956	protein-coding gene	gene with protein product	"""Involved in Processing ITS2 3 homolog (S. cerevisiae)"""					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.283G>A	19.37:g.985937G>A	ENSP00000251289:p.Val95Ile					WDR18_uc002lqn.1_RNA|WDR18_uc010drx.1_Intron|WDR18_uc010dry.1_Missense_Mutation_p.V95I	p.V95I	NM_024100	NP_077005	Q9BV38	WDR18_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)	2	309	+		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)	95			WD 2.		O60390|Q9BWR2	Missense_Mutation	SNP	ENST00000251289.5	37	c.283G>A	CCDS12051.1	.	.	.	.	.	.	.	.	.	.	G	2.028	-0.423030	0.04734	.	.	ENSG00000065268	ENST00000251289	T	0.19532	2.14	3.77	3.77	0.43336	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.330343	0.28847	N	0.013954	T	0.08313	0.0207	N	0.11201	0.11	0.23459	N	0.99763	B	0.17268	0.021	B	0.08055	0.003	T	0.32214	-0.9915	10	0.11794	T	0.64	.	4.8143	0.13358	0.1246:0.2257:0.6496:0.0	.	95	Q9BV38	WDR18_HUMAN	I	95	ENSP00000251289:V95I	ENSP00000251289:V95I	V	+	1	0	WDR18	936937	0.519000	0.26242	0.013000	0.15412	0.002000	0.02628	0.778000	0.26732	1.956000	0.56807	0.555000	0.69702	GTC		0.572	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			4	37	0	0	0	0	4	37				
C19orf35	374872	broad.mit.edu	37	19	2276476	2276476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:2276476C>T	ENST00000342063.3	-	4	718	c.625G>A	c.(625-627)Ggg>Agg	p.G209R		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	209										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		ACGTCCGCCCCGGGCTTGGGC	0.701																																						uc002lvn.2		NA																	0				pancreas(1)	1						c.(625-627)GGG>AGG		hypothetical protein LOC374872							7.0	8.0	8.0					19																	2276476		1938	3735	5673	SO:0001583	missense	374872							g.chr19:2276476C>T	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.625G>A	19.37:g.2276476C>T	ENSP00000345102:p.Gly209Arg					SPPL2B_uc010dsw.1_Intron	p.G209R	NM_198532	NP_940934	Q6ZS72	CS035_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)	4	725	-			209						Missense_Mutation	SNP	ENST00000342063.3	37	c.625G>A	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	C	3.878	-0.026597	0.07589	.	.	ENSG00000188305	ENST00000342063	T	0.13901	2.55	2.82	0.275	0.15659	.	.	.	.	.	T	0.09686	0.0238	L	0.50333	1.59	0.09310	N	1	D	0.54772	0.968	B	0.42087	0.375	T	0.16012	-1.0417	9	0.07644	T	0.81	.	4.7793	0.13194	0.2254:0.6312:0.0:0.1434	.	209	Q6ZS72	CS035_HUMAN	R	209	ENSP00000345102:G209R	ENSP00000345102:G209R	G	-	1	0	C19orf35	2227476	0.000000	0.05858	0.079000	0.20413	0.220000	0.24768	0.747000	0.26290	0.385000	0.24970	-0.258000	0.10820	GGG		0.701	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		5	11	0	0	0	0	5	11				
PEX11G	92960	broad.mit.edu	37	19	7550795	7550795	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:7550795T>A	ENST00000221480.1	-	2	186	c.178A>T	c.(178-180)Agg>Tgg	p.R60W	PEX11G_ENST00000593942.1_5'UTR|PEX11G_ENST00000599519.1_5'Flank	NM_001270539.1|NM_080662.3	NP_001257468.1|NP_542393.1	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	60					peroxisome fission (GO:0016559)|regulation of peroxisome size (GO:0044375)	integral component of peroxisomal membrane (GO:0005779)|intrinsic component of peroxisomal membrane (GO:0031231)|peroxisome (GO:0005777)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						AAGATGGTCCTGCAGTGGCTG	0.567																																						uc002mgk.1		NA																	0					0						c.(178-180)AGG>TGG		peroxisomal biogenesis factor 11 gamma							110.0	85.0	93.0					19																	7550795		2203	4300	6503	SO:0001583	missense	92960					integral to membrane|peroxisomal membrane		g.chr19:7550795T>A	BC008780	CCDS12178.1	19p13.2	2008-02-05				ENSG00000104883			20208	protein-coding gene	gene with protein product		607583				12417726	Standard	NM_080662		Approved		uc002mgk.2	Q96HA9		ENST00000221480.1:c.178A>T	19.37:g.7550795T>A	ENSP00000221480:p.Arg60Trp					PEX11G_uc002mgl.1_5'UTR	p.R60W	NM_080662	NP_542393	Q96HA9	PX11C_HUMAN			2	187	-			60			Cytoplasmic (Potential).		Q8NDM0	Missense_Mutation	SNP	ENST00000221480.1	37	c.178A>T	CCDS12178.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624679	0.66901	.	.	ENSG00000104883	ENST00000221480	D	0.82255	-1.59	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.90992	0.7167	M	0.87900	2.915	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.91871	0.5507	10	0.87932	D	0	-29.6015	9.5014	0.39019	0.0:0.0:0.1778:0.8222	.	60	Q96HA9	PX11C_HUMAN	W	60	ENSP00000221480:R60W	ENSP00000221480:R60W	R	-	1	2	PEX11G	7456795	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	1.425000	0.34859	2.021000	0.59480	0.459000	0.35465	AGG		0.567	PEX11G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458965.1	NM_080662		17	42	0	0	0	0	17	42				
EVI5L	115704	broad.mit.edu	37	19	7916349	7916349	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:7916349C>T	ENST00000270530.4	+	7	979	c.783C>T	c.(781-783)ttC>ttT	p.F261F	EVI5L_ENST00000538904.2_Silent_p.F261F	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	261	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						ACACCCACTTCCGTTCCCAAA	0.647																																						uc002min.2		NA																	0				ovary(1)	1						c.(781-783)TTC>TTT		ecotropic viral integration site 5-like isoform							299.0	198.0	232.0					19																	7916349		2203	4300	6503	SO:0001819	synonymous_variant	115704					intracellular	protein binding|Rab GTPase activator activity	g.chr19:7916349C>T	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.783C>T	19.37:g.7916349C>T						EVI5L_uc010xjz.1_Silent_p.F261F|EVI5L_uc002mio.1_5'UTR	p.F261F	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN			7	937	+			261			Rab-GAP TBC.		B9A6I9	Silent	SNP	ENST00000270530.4	37	c.783C>T	CCDS12188.1																																																																																				0.647	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		11	68	0	0	0	0	11	68				
ZNF737	100129842	broad.mit.edu	37	19	20728770	20728770	+	Missense_Mutation	SNP	T	T	G	rs61742876	byFrequency	TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:20728770T>G	ENST00000427401.4	-	4	333	c.239A>C	c.(238-240)cAt>cCt	p.H80P		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	80					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(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCGGGCAAAATGAGAACACGT	0.323																																						uc002npa.2		NA																	0				ovary(1)	1						c.(238-240)CAT>CCT		zinc finger protein 737							79.0	64.0	68.0					19																	20728770		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728770T>G	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.239A>C	19.37:g.20728770T>G	ENSP00000395733:p.His80Pro						p.H80P	NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN			4	419	-			80					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.239A>C	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	3.206	-0.162743	0.06502	.	.	ENSG00000237440	ENST00000427401	T	0.06608	3.28	0.775	-0.574	0.11738	.	.	.	.	.	T	0.10852	0.0265	M	0.88842	2.985	0.09310	N	1	B	0.17667	0.023	B	0.23419	0.046	T	0.36720	-0.9736	9	0.56958	D	0.05	.	2.6307	0.04943	0.0:0.4767:0.0:0.5233	.	80	C9JHM3	.	P	80	ENSP00000395733:H80P	ENSP00000395733:H80P	H	-	2	0	ZNF737	20520610	0.088000	0.21588	0.029000	0.17559	0.029000	0.11900	2.981000	0.49329	0.147000	0.19030	0.145000	0.16022	CAT		0.323	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		4	19	0	0	0	0	4	19				
RBM42	79171	broad.mit.edu	37	19	36124784	36124784	+	Missense_Mutation	SNP	G	G	A	rs375959280		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:36124784G>A	ENST00000262633.4	+	7	985	c.880G>A	c.(880-882)Gag>Aag	p.E294K	RBM42_ENST00000589559.1_Missense_Mutation_p.E265K|RBM42_ENST00000360475.4_Missense_Mutation_p.E265K|RBM42_ENST00000589871.1_Missense_Mutation_p.E272K|RBM42_ENST00000588161.1_Missense_Mutation_p.E264K|RBM42_ENST00000592202.1_Missense_Mutation_p.E240K|RBM42_ENST00000586618.1_Intron	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	294	Necessary for interaction with HNRNPK. {ECO:0000250}.|Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCATTGCCCGAGCCTGAGCC	0.746																																						uc002oan.2		NA																	0					0						c.(880-882)GAG>AAG		RNA binding motif protein 42		G	LYS/GLU	0,4272		0,0,2136	7.0	9.0	8.0		880	5.4	1.0	19		8	1,8405		0,1,4202	no	missense	RBM42	NM_024321.3	56	0,1,6338	AA,AG,GG		0.0119,0.0,0.0079	probably-damaging	294/481	36124784	1,12677	2136	4203	6339	SO:0001583	missense	79171					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:36124784G>A	BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.880G>A	19.37:g.36124784G>A	ENSP00000262633:p.Glu294Lys					RBM42_uc010eef.2_Missense_Mutation_p.E240K|RBM42_uc002oao.2_Missense_Mutation_p.E272K|RBM42_uc002oap.2_Missense_Mutation_p.E264K|RBM42_uc002oaq.2_Missense_Mutation_p.E265K|RBM42_uc010eeg.2_Missense_Mutation_p.E265K	p.E294K	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		7	956	+	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		294			Necessary for interaction with HNRNPK (By similarity).|Pro-rich.		O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	ENST00000262633.4	37	c.880G>A	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521231	0.44866	0.0	1.19E-4	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.06218	3.33;3.36	5.38	5.38	0.77491	.	0.242598	0.40222	N	0.001149	T	0.04318	0.0119	N	0.08118	0	0.34049	D	0.655918	D;D;D;D	0.67145	0.996;0.996;0.996;0.993	P;P;P;B	0.44732	0.459;0.459;0.459;0.27	T	0.50268	-0.8848	10	0.13853	T	0.58	-20.4533	14.5099	0.67776	0.0:0.0:1.0:0.0	.	260;265;264;294	Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	K	294;265	ENSP00000262633:E294K;ENSP00000353663:E265K	ENSP00000262633:E294K	E	+	1	0	RBM42	40816624	1.000000	0.71417	0.992000	0.48379	0.820000	0.46376	5.396000	0.66297	2.813000	0.96785	0.655000	0.94253	GAG		0.746	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		4	8	0	0	0	0	4	8				
ZNF527	84503	broad.mit.edu	37	19	37879538	37879538	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:37879538A>T	ENST00000436120.2	+	5	694	c.587A>T	c.(586-588)tAt>tTt	p.Y196F	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTGATATTTATGATAAACTC	0.323																																						uc010efk.1		NA																	0				ovary(2)	2						c.(586-588)TAT>TTT		zinc finger protein 527							52.0	51.0	51.0					19																	37879538		1808	4059	5867	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37879538A>T	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.587A>T	19.37:g.37879538A>T	ENSP00000390179:p.Tyr196Phe					ZNF527_uc002ogf.3_Missense_Mutation_p.Y164F|ZNF527_uc010xtq.1_RNA	p.Y196F	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	698	+			196					B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.587A>T	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	A	12.59	1.984233	0.35036	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.15	-0.102	0.13613	.	.	.	.	.	T	0.17023	0.0409	N	0.08118	0	0.09310	N	0.999991	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.19614	-1.0300	8	0.72032	D	0.01	.	4.8574	0.13566	0.3663:0.0:0.4621:0.1716	.	196;164	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	F	196;164;144	.	ENSP00000325231:Y164F	Y	+	2	0	ZNF527	42571378	0.096000	0.21769	0.005000	0.12908	0.936000	0.57629	0.174000	0.16743	-0.291000	0.09012	0.460000	0.39030	TAT		0.323	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		7	68	0	0	0	0	7	68				
ZNF320	162967	broad.mit.edu	37	19	53384668	53384668	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:53384668T>A	ENST00000595635.1	-	8	1212	c.711A>T	c.(709-711)agA>agT	p.R237S	ZNF320_ENST00000391781.2_Missense_Mutation_p.R237S|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	237					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)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CAGTATGACTTCTATGATGAC	0.398																																						uc002qag.2		NA																	0					0						c.(709-711)AGA>AGT		zinc finger protein 320							119.0	108.0	111.0					19																	53384668		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53384668T>A	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.711A>T	19.37:g.53384668T>A	ENSP00000473091:p.Arg237Ser					ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.R183S|ZNF320_uc002qai.2_Missense_Mutation_p.R237S	p.R237S	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	902	-			237			C2H2-type 3.		Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.711A>T	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	13.12	2.141497	0.37825	.	.	ENSG00000182986	ENST00000391781	T	0.02395	4.31	1.74	0.642	0.17765	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06917	0.0176	L	0.55834	1.745	0.09310	N	1	D	0.71674	0.998	P	0.62491	0.903	T	0.33650	-0.9860	9	0.62326	D	0.03	.	1.6584	0.02786	0.2915:0.1983:0.0:0.5101	.	237	A2RRD8	ZN320_HUMAN	S	237	ENSP00000375660:R237S	ENSP00000375660:R237S	R	-	3	2	ZNF320	58076480	0.000000	0.05858	0.000000	0.03702	0.244000	0.25665	-0.417000	0.07088	-0.013000	0.14199	0.155000	0.16302	AGA		0.398	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		10	66	0	0	0	0	10	66				
ZNF446	55663	broad.mit.edu	37	19	58991828	58991828	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:58991828C>T	ENST00000594369.1	+	7	1469	c.1088C>T	c.(1087-1089)cCg>cTg	p.P363L	ZNF446_ENST00000596341.1_Missense_Mutation_p.P312L|ZNF446_ENST00000335841.4_Missense_Mutation_p.R335W	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	363					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GTGCAGTCCCCGGGGCTAGCC	0.657																																						uc002qsz.2		NA																	0				ovary(1)	1						c.(1087-1089)CCG>CTG		zinc finger protein 446							28.0	29.0	28.0					19																	58991828		2203	4300	6503	SO:0001583	missense	55663				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58991828C>T		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.1088C>T	19.37:g.58991828C>T	ENSP00000472802:p.Pro363Leu					ZNF446_uc002qta.2_Missense_Mutation_p.R335W|ZNF446_uc010eur.2_3'UTR|SLC27A5_uc002qtb.2_RNA	p.P363L	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	7	1205	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	363						Missense_Mutation	SNP	ENST00000594369.1	37	c.1088C>T	CCDS12982.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210438	0.39003	.	.	ENSG00000083838	ENST00000335841;ENST00000540481;ENST00000391694	.	.	.	1.53	-3.06	0.05379	.	.	.	.	.	T	0.33147	0.0853	N	0.24115	0.695	0.09310	N	0.999998	D	0.89917	1.0	D	0.81914	0.995	T	0.15723	-1.0427	8	0.33940	T	0.23	-1.6551	0.4987	0.00576	0.2283:0.3038:0.2744:0.1935	.	363	Q9NWS9	ZN446_HUMAN	L	363;363;260	.	ENSP00000336565:P363L	P	+	2	0	ZNF446	63683640	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.013000	0.12678	-0.781000	0.04548	-0.321000	0.08615	CCG		0.657	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467052.1	NM_017908		7	30	0	0	0	0	7	30				
KCNF1	3754	broad.mit.edu	37	2	11053801	11053801	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:11053801C>T	ENST00000295082.1	+	1	1739	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	417					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CAACAAGCAGCGCGTCCTGGA	0.617																																						uc002rax.2		NA																	0				ovary(1)	1						c.(1249-1251)CGC>TGC		potassium voltage-gated channel, subfamily F,							108.0	87.0	94.0					2																	11053801		2203	4300	6503	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053801C>T	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1249C>T	2.37:g.11053801C>T	ENSP00000295082:p.Arg417Cys						p.R417C	NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1739	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		417			Cytoplasmic (Potential).		O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.1249C>T	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579800	0.65992	.	.	ENSG00000162975	ENST00000295082	D	0.98192	-4.78	5.61	2.28	0.28536	.	0.209202	0.38548	N	0.001649	D	0.95617	0.8575	N	0.19112	0.55	0.58432	D	0.999995	D	0.69078	0.997	P	0.47470	0.548	D	0.94845	0.8008	10	0.87932	D	0	.	13.556	0.61759	0.675:0.3249:0.0:0.0	.	417	Q9H3M0	KCNF1_HUMAN	C	417	ENSP00000295082:R417C	ENSP00000295082:R417C	R	+	1	0	KCNF1	10971252	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.095000	0.41729	0.792000	0.33850	0.655000	0.94253	CGC		0.617	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		6	20	0	0	0	0	6	20				
FAM161A	84140	broad.mit.edu	37	2	62067206	62067206	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:62067206C>A	ENST00000405894.3	-	3	1034	c.933G>T	c.(931-933)aaG>aaT	p.K311N	FAM161A_ENST00000404929.1_Missense_Mutation_p.K311N	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	311					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGCTTTTCTCCTTCAGAGACC	0.443																																						uc010ypo.1		NA																	0				large_intestine(2)|ovary(1)	3						c.(931-933)AAG>AAT		hypothetical protein LOC84140							147.0	136.0	139.0					2																	62067206		1844	4096	5940	SO:0001583	missense	84140				response to stimulus|visual perception	centrosome		g.chr2:62067206C>A		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.933G>T	2.37:g.62067206C>A	ENSP00000385893:p.Lys311Asn					FAM161A_uc002sbm.3_Missense_Mutation_p.K311N|FAM161A_uc002sbn.3_Missense_Mutation_p.K121N|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Missense_Mutation_p.K202N	p.K311N	NM_032180	NP_115556	Q3B820	F161A_HUMAN			3	1035	-			311			Potential.		B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	c.933G>T	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407602	0.42715	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.30448	1.53;1.53	5.01	2.23	0.28157	.	0.216274	0.46758	D	0.000278	T	0.47948	0.1473	M	0.68952	2.095	0.24497	N	0.994277	D;D	0.65815	0.995;0.992	D;P	0.68621	0.959;0.888	T	0.35500	-0.9786	10	0.66056	D	0.02	-17.61	9.3247	0.37986	0.0:0.6982:0.0:0.3018	.	311;311	Q3B820;Q3B820-3	F161A_HUMAN;.	N	311	ENSP00000385158:K311N;ENSP00000385893:K311N	ENSP00000385158:K311N	K	-	3	2	FAM161A	61920710	0.181000	0.23161	0.550000	0.28217	0.658000	0.38924	0.593000	0.23999	0.151000	0.19162	-0.150000	0.13652	AAG		0.443	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		17	132	1	0	4.97e-08	5.45e-08	17	132				
DLX1	1745	broad.mit.edu	37	2	172951395	172951395	+	Silent	SNP	G	G	A	rs371818895		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:172951395G>A	ENST00000361725.4	+	2	779	c.327G>A	c.(325-327)gaG>gaA	p.E109E	DLX1_ENST00000341900.6_Intron	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	109					cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic skeletal system development (GO:0048706)|hippocampus development (GO:0021766)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CGGACTCGGAGAAGAGCACGG	0.567																																						uc002uhl.2		NA																	0					0						c.(325-327)GAG>GAA		distal-less homeobox 1 isoform 1		G	,	1,4405	2.1+/-5.4	0,1,2202	107.0	110.0	109.0		,327	5.4	1.0	2		109	0,8600		0,0,4300	no	intron,coding-synonymous	DLX1	NM_001038493.1,NM_178120.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	,109/256	172951395	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1745					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:172951395G>A	BC013010	CCDS2247.2, CCDS33328.1	2q31.1	2011-06-20	2005-12-22		ENSG00000144355	ENSG00000144355		"""Homeoboxes / ANTP class : NKL subclass"""	2914	protein-coding gene	gene with protein product		600029	"""distal-less homeo box 1"""			7907794	Standard	NM_001038493		Approved		uc002uhl.3	P56177	OTTHUMG00000073951	ENST00000361725.4:c.327G>A	2.37:g.172951395G>A						DLX1_uc010fqj.1_Silent_p.E109E|DLX1_uc002uhm.2_Intron	p.E109E	NM_178120	NP_835221	P56177	DLX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		2	525	+			109					D3DPD7|Q53ZU4|Q7Z724|Q8IYB2	Silent	SNP	ENST00000361725.4	37	c.327G>A	CCDS2247.2																																																																																				0.567	DLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405916.1	XM_087198		21	90	0	0	0	0	21	90				
CASP8	841	broad.mit.edu	37	2	202131498	202131498	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:202131498C>T	ENST00000432109.2	+	3	478	c.289C>T	c.(289-291)Caa>Taa	p.Q97*	CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q97*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.Q97*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.Q97*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.Q156*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q97*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.Q97*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q97*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	97					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGGCAGGGCTCAAATTTCTGC	0.488										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(289-291)CAA>TAA		caspase 8 isoform B precursor							43.0	41.0	42.0					2																	202131498		2203	4300	6503	SO:0001587	stop_gained	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202131498C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.289C>T	2.37:g.202131498C>T	ENSP00000412523:p.Gln97*	HNSCC(4;0.00038)				CASP8_uc010ftc.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxo.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxp.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxq.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxs.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxt.1_Nonsense_Mutation_p.Q156*|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxw.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxy.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxx.1_Nonsense_Mutation_p.Q97*|CASP8_uc010ftf.2_Nonsense_Mutation_p.Q97*	p.Q97*	NM_033355	NP_203519	Q14790	CASP8_HUMAN			3	498	+			97					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	c.289C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	36	5.736296	0.96865	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	.	.	.	5.58	5.58	0.84498	.	1.143620	0.06237	N	0.689670	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	18.5483	0.91055	0.0:1.0:0.0:0.0	.	.	.	.	X	97;97;97;97;97;97;97;97;97;156;97;97;97;97	.	ENSP00000264274:Q97X	Q	+	1	0	CASP8	201839743	0.909000	0.30893	0.998000	0.56505	0.231000	0.25187	0.895000	0.28363	2.612000	0.88384	0.561000	0.74099	CAA		0.488	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		5	18	0	0	0	0	5	18				
OR6B2	389090	broad.mit.edu	37	2	240969562	240969562	+	Silent	SNP	G	G	T	rs368904252		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:240969562G>T	ENST00000402971.2	-	1	344	c.285C>A	c.(283-285)gtC>gtA	p.V95V		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TCATGCACCCGACGAAAGAGA	0.577																																						uc002vyr.2		NA																	0					0						c.(283-285)GTC>GTA		olfactory receptor, family 6, subfamily B,							35.0	35.0	35.0					2																	240969562		1861	4070	5931	SO:0001819	synonymous_variant	389090				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240969562G>T		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.285C>A	2.37:g.240969562G>T						OR6B2_uc010zoc.1_Silent_p.V95V	p.V95V	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)	2	331	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	95			Extracellular (Potential).		B2RPR3|Q8NGW0	Silent	SNP	ENST00000402971.2	37	c.285C>A	CCDS46559.1																																																																																				0.577	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		8	46	1	0	1.77e-08	1.96e-08	8	46				
ZSWIM3	140831	broad.mit.edu	37	20	44507028	44507028	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr20:44507028G>A	ENST00000255152.2	+	2	2040	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	ZSWIM1_ENST00000372520.1_5'Flank|ZSWIM3_ENST00000454862.2_Missense_Mutation_p.E605K|ZSWIM1_ENST00000372523.1_5'Flank	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	611							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				AGGCCAGCCTGAGAAGCAAGG	0.587																																						uc002xqd.2		NA																	0				ovary(2)	2						c.(1831-1833)GAG>AAG		zinc finger, SWIM domain containing 3							105.0	79.0	88.0					20																	44507028		2203	4300	6503	SO:0001583	missense	140831						zinc ion binding	g.chr20:44507028G>A	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1831G>A	20.37:g.44507028G>A	ENSP00000255152:p.Glu611Lys					ZSWIM3_uc010zxg.1_Missense_Mutation_p.E605K|ZSWIM1_uc010zxh.1_5'Flank|ZSWIM1_uc010ghi.2_5'Flank	p.E611K	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN			2	2034	+		Myeloproliferative disorder(115;0.0122)	611					Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	c.1831G>A	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275607	0.23307	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.24350	1.88;1.86	5.18	4.17	0.49024	.	0.421415	0.24251	N	0.040178	T	0.16685	0.0401	N	0.24115	0.695	0.09310	N	1	B;B	0.30482	0.281;0.18	B;B	0.30029	0.11;0.07	T	0.13656	-1.0501	10	0.21540	T	0.41	-8.6266	12.6684	0.56855	0.0:0.0:0.8246:0.1754	.	605;611	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	K	611;605	ENSP00000255152:E611K;ENSP00000406313:E605K	ENSP00000255152:E611K	E	+	1	0	ZSWIM3	43940435	0.684000	0.27642	0.397000	0.26308	0.735000	0.41995	2.312000	0.43726	2.698000	0.92095	0.491000	0.48974	GAG		0.587	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		18	80	0	0	0	0	18	80				
KRTAP10-6	386674	broad.mit.edu	37	21	46011580	46011580	+	Silent	SNP	G	G	T	rs376313490		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr21:46011580G>T	ENST00000400368.1	-	1	806	c.786C>A	c.(784-786)acC>acA	p.T262T	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	262	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGGGGAGGAGGTGCAGCAAG	0.652																																						uc002zfm.2		NA																	0					0						c.(784-786)ACC>ACA		keratin associated protein 10-6							112.0	115.0	114.0					21																	46011580		2203	4300	6503	SO:0001819	synonymous_variant	386674					keratin filament		g.chr21:46011580G>T	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.786C>A	21.37:g.46011580G>T						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.T262T	NM_198688	NP_941961	P60371	KR106_HUMAN			1	807	-			262			23.|29 X 5 AA repeats of C-C-X(3).			Silent	SNP	ENST00000400368.1	37	c.786C>A	CCDS42959.1																																																																																				0.652	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		28	84	1	0	2.68e-12	3.03e-12	28	84				
TPST2	8459	broad.mit.edu	37	22	26932363	26932363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr22:26932363C>T	ENST00000338754.4	-	4	1202	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	TPST2_ENST00000398110.2_Missense_Mutation_p.R311Q|TPST2_ENST00000403880.1_Missense_Mutation_p.R311Q	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	311					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						GGCCATGTCCCGCACCACATC	0.602																																						uc003acv.2		NA																	0				central_nervous_system(1)	1						c.(931-933)CGG>CAG		tyrosylprotein sulfotransferase 2							63.0	53.0	57.0					22																	26932363		2203	4300	6503	SO:0001583	missense	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26932363C>T	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.932G>A	22.37:g.26932363C>T	ENSP00000339813:p.Arg311Gln					TPST2_uc003acw.2_Missense_Mutation_p.R311Q|TPST2_uc003acx.2_Missense_Mutation_p.R311Q	p.R311Q	NM_003595	NP_003586	O60704	TPST2_HUMAN			3	1100	-			311			Lumenal (Potential).		B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	ENST00000338754.4	37	c.932G>A	CCDS13839.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383599	0.25031	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868;ENST00000445720	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.88	1.45	0.22620	.	0.602772	0.17011	N	0.190532	T	0.17534	0.0421	N	0.10874	0.06	0.38121	D	0.937855	B	0.17667	0.023	B	0.06405	0.002	T	0.08638	-1.0712	10	0.24483	T	0.36	-22.3607	2.1422	0.03777	0.2411:0.4104:0.0:0.3485	.	311	O60704	TPST2_HUMAN	Q	311;311;311;244;58	ENSP00000339813:R311Q;ENSP00000381180:R311Q;ENSP00000385192:R311Q;ENSP00000403758:R58Q	ENSP00000339813:R311Q	R	-	2	0	TPST2	25262363	0.851000	0.29673	0.994000	0.49952	0.707000	0.40811	2.133000	0.42093	0.642000	0.30620	0.655000	0.94253	CGG		0.602	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595		5	26	0	0	0	0	5	26				
SMTN	6525	broad.mit.edu	37	22	31492832	31492832	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr22:31492832G>A	ENST00000347557.2	+	14	2193	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N	SMTN_ENST00000333137.7_Missense_Mutation_p.D659N|SMTN_ENST00000404574.1_Intron|SMTN_ENST00000358743.1_Missense_Mutation_p.D659N	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	659					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCGGGCAGCTGATGGCTCTGC	0.687																																						uc003ajl.1		NA																	0				large_intestine(2)|pancreas(1)	3						c.(1975-1977)GAT>AAT		smoothelin isoform c							58.0	61.0	60.0					22																	31492832		2203	4300	6503	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31492832G>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1975G>A	22.37:g.31492832G>A	ENSP00000328635:p.Asp659Asn					SMTN_uc003ajk.1_Missense_Mutation_p.D659N|SMTN_uc003ajm.1_Missense_Mutation_p.D659N|SMTN_uc011ale.1_Missense_Mutation_p.D744N|SMTN_uc011alf.1_Missense_Mutation_p.D715N|SMTN_uc003ajn.1_Missense_Mutation_p.D682N|SMTN_uc011alg.1_Missense_Mutation_p.D115N|SMTN_uc003ajo.1_Intron|SMTN_uc011alh.1_RNA|SMTN_uc010gwe.1_Intron	p.D659N	NM_006932	NP_008863	P53814	SMTN_HUMAN			14	2193	+			659					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.1975G>A	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614617	0.87359	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496	T;T;T	0.70749	-0.15;-0.51;-0.51	4.51	4.51	0.55191	.	0.207708	0.24254	N	0.040158	T	0.78735	0.4330	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D;D	0.69078	0.996;0.996;0.997;0.996;0.997;0.992	P;D;D;P;D;D	0.68192	0.883;0.933;0.937;0.883;0.931;0.956	T	0.78521	-0.2172	10	0.46703	T	0.11	-10.3055	12.5468	0.56203	0.0:0.1678:0.8322:0.0	.	715;744;682;659;659;659	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	N	659;659;659;657;682	ENSP00000351593:D659N;ENSP00000328635:D659N;ENSP00000329532:D659N	ENSP00000329393:D657N	D	+	1	0	SMTN	29822832	1.000000	0.71417	0.745000	0.31077	0.914000	0.54420	4.332000	0.59279	2.237000	0.73441	0.456000	0.33151	GAT		0.687	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		19	55	0	0	0	0	19	55				
CADM2	253559	broad.mit.edu	37	3	86114798	86114798	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr3:86114798C>T	ENST00000407528.2	+	9	1169	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	CADM2_ENST00000383699.3_Silent_p.L338L|CADM2_ENST00000405615.2_Silent_p.L371L	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	369					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)		ACCATGCTCTCATAGGAGGAA	0.403																																						uc003dqj.2		NA																	0				ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(1105-1107)CTC>CTT		immunoglobulin superfamily, member 4D							157.0	140.0	146.0					3																	86114798		2203	4300	6503	SO:0001819	synonymous_variant	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:86114798C>T	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.1107C>T	3.37:g.86114798C>T						CADM2_uc003dqk.2_Silent_p.L338L|CADM2_uc003dql.2_Silent_p.L371L	p.L369L	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)	9	1733	+		Lung NSC(201;0.0148)	369			Helical; (Potential).		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Silent	SNP	ENST00000407528.2	37	c.1107C>T	CCDS54614.1																																																																																				0.403	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		6	18	0	0	0	0	6	18				
ABHD10	55347	broad.mit.edu	37	3	111697969	111697969	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr3:111697969G>T	ENST00000273359.3	+	1	88	c.61G>T	c.(61-63)Gca>Tca	p.A21S	ABHD10_ENST00000534857.1_5'UTR|ABHD10_ENST00000494817.1_Missense_Mutation_p.A21S	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	21					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						CTGGGGCTGGGCAGCCGTCCC	0.687																																						uc003dyk.3		NA																	0					0						c.(61-63)GCA>TCA		abhydrolase domain containing 10 precursor							40.0	42.0	41.0					3																	111697969		2202	4299	6501	SO:0001583	missense	55347					mitochondrion	serine-type peptidase activity	g.chr3:111697969G>T	AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"""Abhydrolase domain containing"""	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.61G>T	3.37:g.111697969G>T	ENSP00000273359:p.Ala21Ser					ABHD10_uc011bhq.1_5'UTR	p.A21S	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN			1	142	+			21					B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Missense_Mutation	SNP	ENST00000273359.3	37	c.61G>T	CCDS2963.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278581	0.80692	.	.	ENSG00000144827	ENST00000273359;ENST00000494817	T	0.44881	0.91	5.19	-1.8	0.07907	.	0.406806	0.22666	N	0.057123	T	0.27594	0.0678	L	0.55103	1.725	0.20764	N	0.999853	B	0.11235	0.004	B	0.09377	0.004	T	0.13019	-1.0525	10	0.37606	T	0.19	7.4306	1.1887	0.01860	0.2627:0.2666:0.3343:0.1364	.	21	Q9NUJ1	ABHDA_HUMAN	S	21	ENSP00000273359:A21S	ENSP00000273359:A21S	A	+	1	0	ABHD10	113180659	0.000000	0.05858	0.000000	0.03702	0.846000	0.48090	-0.411000	0.07142	-0.440000	0.07211	0.655000	0.94253	GCA		0.687	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1	NM_018394		6	31	1	0	0.00116845	0.0012296	6	31				
CCDC80	151887	broad.mit.edu	37	3	112324383	112324383	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr3:112324383G>A	ENST00000206423.3	-	8	3687	c.2734C>T	c.(2734-2736)Cgc>Tgc	p.R912C	CCDC80_ENST00000439685.2_Missense_Mutation_p.R912C	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	912					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCTGGGCAGCGCATCCCCAGT	0.473																																						uc003dzf.2		NA																	0				ovary(2)	2						c.(2734-2736)CGC>TGC		steroid-sensitive protein 1 precursor							122.0	101.0	108.0					3																	112324383		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112324383G>A	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2734C>T	3.37:g.112324383G>A	ENSP00000206423:p.Arg912Cys					CCDC80_uc011bhv.1_Missense_Mutation_p.R885C|CCDC80_uc003dzg.2_Missense_Mutation_p.R912C	p.R912C	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			8	2952	-			912					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.2734C>T	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003686	0.74932	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594;ENST00000479368	T;T;T	0.52754	0.65;0.65;0.81	5.83	4.87	0.63330	.	0.099290	0.64402	D	0.000001	T	0.56978	0.2022	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.973	T	0.61038	-0.7143	10	0.87932	D	0	-11.0485	16.8142	0.85729	0.0:0.0:0.8076:0.1924	.	923;912	Q76M96-2;Q76M96	.;CCD80_HUMAN	C	912;912;513;190	ENSP00000206423:R912C;ENSP00000411814:R912C;ENSP00000418188:R190C	ENSP00000206423:R912C	R	-	1	0	CCDC80	113807073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.439000	0.66556	2.753000	0.94483	0.585000	0.79938	CGC		0.473	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		3	38	0	0	0	0	3	38				
GP5	2814	broad.mit.edu	37	3	194118839	194118839	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr3:194118839A>T	ENST00000401815.1	-	1	244	c.173T>A	c.(172-174)tTc>tAc	p.F58Y	GP5_ENST00000323007.3_Missense_Mutation_p.F58Y			P40197	GPV_HUMAN	glycoprotein V (platelet)	58					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GCCCATTCCGAAGAGCAGGAT	0.677																																						uc003ftv.1		NA																	0				skin(2)|breast(1)	3						c.(172-174)TTC>TAC		glycoprotein V (platelet) precursor							48.0	48.0	48.0					3																	194118839		2197	4289	6486	SO:0001583	missense	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118839A>T	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.173T>A	3.37:g.194118839A>T	ENSP00000383931:p.Phe58Tyr						p.F58Y	NM_004488	NP_004479	P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	2	204	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	58			Extracellular (Potential).		D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	c.173T>A	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	A	6.418	0.445237	0.12164	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	D;D	0.89875	-2.58;-2.58	4.63	-4.62	0.03370	.	0.622155	0.13384	N	0.391874	T	0.70254	0.3203	N	0.20766	0.605	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.62445	-0.6853	10	0.02654	T	1	.	4.3256	0.11038	0.3784:0.0:0.1939:0.4278	.	58	P40197	GPV_HUMAN	Y	58	ENSP00000383931:F58Y;ENSP00000319286:F58Y	ENSP00000319286:F58Y	F	-	2	0	GP5	195600128	0.000000	0.05858	0.021000	0.16686	0.207000	0.24258	-1.533000	0.02215	-0.677000	0.05231	0.402000	0.26972	TTC		0.677	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		46	73	0	0	0	0	46	73				
NAT8L	339983	broad.mit.edu	37	4	2065645	2065645	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:2065645G>A	ENST00000423729.2	+	3	700	c.700G>A	c.(700-702)Gag>Aag	p.E234K	NAT8L_ENST00000331662.3_Missense_Mutation_p.E66K	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	234	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)	aspartate N-acetyltransferase activity (GO:0017188)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			GAAGGTGCTGGAGTTCGCCGT	0.652																																						uc003geq.1		NA																	0					0						c.(196-198)GAG>AAG		N-acetyltransferase 8-like (GCN5-related,							70.0	56.0	61.0					4																	2065645		2201	4300	6501	SO:0001583	missense	339983					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity	g.chr4:2065645G>A	AK094797	CCDS3359.1, CCDS3359.2	4p16.3	2011-11-16	2008-09-24		ENSG00000185818	ENSG00000185818			26742	protein-coding gene	gene with protein product		610647	"""N-acetyltransferase 8-like"""			11397015	Standard	NM_178557		Approved	FLJ37478, Hcml3	uc003geq.2	Q8N9F0	OTTHUMG00000121151	ENST00000423729.2:c.700G>A	4.37:g.2065645G>A	ENSP00000413064:p.Glu234Lys						p.E66K	NM_178557	NP_848652	Q8N9F0	NAT8L_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0315)		3	352	+			234			N-acetyltransferase.			Missense_Mutation	SNP	ENST00000423729.2	37	c.196G>A	CCDS3359.2	.	.	.	.	.	.	.	.	.	.	G	37	6.054921	0.97241	.	.	ENSG00000185818	ENST00000423729;ENST00000331662	T;T	0.24350	1.86;1.86	5.56	5.56	0.83823	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	U	0.000000	T	0.38108	0.1028	N	0.21583	0.68	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.07616	-1.0763	10	0.26408	T	0.33	-22.803	19.1106	0.93315	0.0:0.0:1.0:0.0	.	234	Q8N9F0	NAT8L_HUMAN	K	234;66	ENSP00000413064:E234K;ENSP00000328464:E66K	ENSP00000328464:E66K	E	+	1	0	NAT8L	2035443	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.585000	0.74062	2.609000	0.88269	0.457000	0.33378	GAG		0.652	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178557		6	24	0	0	0	0	6	24				
UGDH	7358	broad.mit.edu	37	4	39512453	39512453	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:39512453A>G	ENST00000316423.6	-	4	635	c.293T>C	c.(292-294)aTg>aCg	p.M98T	UGDH_ENST00000507089.1_Start_Codon_SNP_p.M1T|UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000506179.1_Missense_Mutation_p.M98T|UGDH_ENST00000501493.2_Intron	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	98					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						GCCTTTCCCCATTCCATAGGT	0.413																																						uc003guk.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(292-294)ATG>ACG		UDP-glucose dehydrogenase	NADH(DB00157)						95.0	90.0	91.0					4																	39512453		2203	4300	6503	SO:0001583	missense	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39512453A>G	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.293T>C	4.37:g.39512453A>G	ENSP00000319501:p.Met98Thr					UGDH_uc011byp.1_Missense_Mutation_p.M1T|UGDH_uc003gul.1_Intron	p.M98T	NM_003359	NP_003350	O60701	UGDH_HUMAN			4	609	-			98					B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	c.293T>C	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.154918	0.57259	.	.	ENSG00000109814	ENST00000316423;ENST00000506179;ENST00000507089;ENST00000515021;ENST00000514106;ENST00000509391	D;D;D;T;T	0.82893	-1.56;-1.56;-1.66;-0.98;-0.98	5.95	5.95	0.96441	UDP-glucose/GDP-mannose dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.67524	0.2902	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.64373	-0.6423	10	0.48119	T	0.1	-2.758	15.6134	0.76744	1.0:0.0:0.0:0.0	.	98	O60701	UGDH_HUMAN	T	98;98;1;111;98;98	ENSP00000319501:M98T;ENSP00000421757:M98T;ENSP00000426560:M1T;ENSP00000421954:M111T;ENSP00000425834:M98T	ENSP00000319501:M98T	M	-	2	0	UGDH	39188848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.642000	0.91036	2.281000	0.76405	0.528000	0.53228	ATG		0.413	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		20	67	0	0	0	0	20	67				
NFXL1	152518	broad.mit.edu	37	4	47898591	47898591	+	Silent	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:47898591G>A	ENST00000507489.1	-	10	1454	c.1278C>T	c.(1276-1278)atC>atT	p.I426I	NFXL1_ENST00000381538.3_Silent_p.I426I|NFXL1_ENST00000329043.3_Silent_p.I426I	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	426						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						AACATCTATGGATTCCGCATT	0.373																																						uc010igh.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(1276-1278)ATC>ATT		nuclear transcription factor, X-box binding-like							88.0	81.0	83.0					4																	47898591		2203	4300	6503	SO:0001819	synonymous_variant	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47898591G>A	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.1278C>T	4.37:g.47898591G>A						NFXL1_uc003gxp.2_Silent_p.I426I|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Silent_p.I426I	p.I426I	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN			10	1455	-			426					B1Q2K1|Q86VG1|Q8WVH1	Silent	SNP	ENST00000507489.1	37	c.1278C>T	CCDS3478.2																																																																																				0.373	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		7	38	0	0	0	0	7	38				
UGT2B28	54490	broad.mit.edu	37	4	70156431	70156431	+	Silent	SNP	T	T	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:70156431T>A	ENST00000335568.5	+	5	1214	c.1212T>A	c.(1210-1212)gcT>gcA	p.A404A	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	404					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						ATAACATTGCTCACATGAAGG	0.453																																						uc003hej.2		NA																	0				skin(1)	1						c.(1210-1212)GCT>GCA		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)						107.0	109.0	109.0					4																	70156431		2045	4224	6269	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70156431T>A	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1212T>A	4.37:g.70156431T>A						UGT2B28_uc010ihr.2_Intron	p.A404A	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			5	1214	+			404					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.1212T>A	CCDS3528.1																																																																																				0.453	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		21	129	0	0	0	0	21	129				
UGT2B28	54490	broad.mit.edu	37	4	70156461	70156462	+	Missense_Mutation	DNP	AC	AC	TT	rs553421708		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:70156461_70156462AC>TT	ENST00000335568.5	+	5	1244_1245	c.1242_1243AC>TT	c.(1240-1245)agACtg>agTTtg	p.R414S	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	414					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						CAGCTGTTAGACTGGACTTCCA	0.441																																						uc003hej.2		NA																	0				skin(1)	1						c.(1240-1245)AGACTG>AGTTTG		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)																																			SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70156461_70156462AC>TT	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	Exception_encountered	4.37:g.70156461_70156462delinsTT	ENSP00000334276:p.Arg414Ser					UGT2B28_uc010ihr.2_Intron	p.R414S	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			5	1244_1245	+			414					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	DNP	ENST00000335568.5	37	c.1242_1243AC>TT	CCDS3528.1																																																																																				0.441	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		12	132	0	0	0	0	12	132				
SHROOM3	57619	broad.mit.edu	37	4	77661382	77661382	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:77661382G>A	ENST00000296043.6	+	5	3009	c.2056G>A	c.(2056-2058)Gag>Aag	p.E686K		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	686					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGGAACCCAGGAGGGTTACCC	0.607																																						uc011cbx.1		NA																	0				skin(2)|ovary(1)	3						c.(2056-2058)GAG>AAG		shroom family member 3 protein							45.0	58.0	53.0					4																	77661382		2202	4300	6502	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661382G>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2056G>A	4.37:g.77661382G>A	ENSP00000296043:p.Glu686Lys					SHROOM3_uc011cbz.1_Missense_Mutation_p.E510K|SHROOM3_uc003hkf.1_Missense_Mutation_p.E561K|SHROOM3_uc003hkg.2_Missense_Mutation_p.E464K	p.E686K	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	3009	+			686					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2056G>A	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403183	0.62288	.	.	ENSG00000138771	ENST00000296043	T	0.36878	1.23	5.64	5.64	0.86602	.	0.770342	0.11873	N	0.521235	T	0.36441	0.0967	M	0.64997	1.995	0.09310	N	0.999996	B;B;B	0.31485	0.144;0.325;0.144	B;B;B	0.23150	0.044;0.044;0.044	T	0.32929	-0.9888	10	0.66056	D	0.02	-4.3865	12.2275	0.54468	0.0778:0.0:0.9222:0.0	.	510;686;464	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	K	686	ENSP00000296043:E686K	ENSP00000296043:E686K	E	+	1	0	SHROOM3	77880406	0.980000	0.34600	0.339000	0.25562	0.083000	0.17756	3.283000	0.51701	2.637000	0.89404	0.563000	0.77884	GAG		0.607	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		53	72	0	0	0	0	53	72				
RRH	10692	broad.mit.edu	37	4	110758732	110758732	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:110758732G>T	ENST00000317735.4	+	5	725	c.691G>T	c.(691-693)Gac>Tac	p.D231Y		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	231					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		CCTCAACAGAGACTGGTCAGA	0.403																																						uc003hzv.2		NA																	0				ovary(1)	1						c.(691-693)GAC>TAC		peropsin							93.0	78.0	83.0					4																	110758732		2203	4300	6503	SO:0001583	missense	10692				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr4:110758732G>T	AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.691G>T	4.37:g.110758732G>T	ENSP00000314992:p.Asp231Tyr						p.D231Y	NM_006583	NP_006574	O14718	OPSX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00109)	5	725	+		Hepatocellular(203;0.217)	231			Cytoplasmic.		A1A4V2|Q7RTS4	Missense_Mutation	SNP	ENST00000317735.4	37	c.691G>T	CCDS3687.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728637	0.89390	.	.	ENSG00000180245	ENST00000317735	T	0.36699	1.24	5.92	5.92	0.95590	GPCR, rhodopsin-like superfamily (1);	0.090578	0.85682	D	0.000000	T	0.58163	0.2103	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	D	0.65233	0.933	T	0.56757	-0.7926	10	0.72032	D	0.01	.	20.33	0.98713	0.0:0.0:1.0:0.0	.	231	O14718	OPSX_HUMAN	Y	231	ENSP00000314992:D231Y	ENSP00000314992:D231Y	D	+	1	0	RRH	110978181	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.511000	0.81718	2.810000	0.96702	0.585000	0.79938	GAC		0.403	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	NM_006583		7	23	1	0	0.000157383	0.000167934	7	23				
TKTL2	84076	broad.mit.edu	37	4	164394114	164394114	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:164394114G>T	ENST00000280605.3	-	1	933	c.773C>A	c.(772-774)gCa>gAa	p.A258E		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	258						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.A258V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCAATTTTCTGCATCCTCAAT	0.408																																						uc003iqp.3		NA																	1	Substitution - Missense(1)	p.A258V(1)	ovary(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(772-774)GCA>GAA		transketolase-like 2							136.0	138.0	137.0					4																	164394114		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394114G>T	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.773C>A	4.37:g.164394114G>T	ENSP00000280605:p.Ala258Glu						p.A258E	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	934	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	258					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.773C>A	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	G	0.072	-1.201271	0.01581	.	.	ENSG00000151005	ENST00000280605	T	0.22336	1.96	4.3	4.3	0.51218	Transketolase, N-terminal (1);	0.793338	0.11439	N	0.564004	T	0.12732	0.0309	N	0.19112	0.55	0.26071	N	0.98122	B	0.14012	0.009	B	0.20384	0.029	T	0.22243	-1.0222	10	0.09084	T	0.74	-13.197	9.868	0.41157	0.0:0.0:0.7962:0.2038	.	258	Q9H0I9	TKTL2_HUMAN	E	258	ENSP00000280605:A258E	ENSP00000280605:A258E	A	-	2	0	TKTL2	164613564	0.001000	0.12720	0.988000	0.46212	0.330000	0.28571	0.676000	0.25247	2.672000	0.90937	0.655000	0.94253	GCA		0.408	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		24	93	1	0	5.62e-17	6.46e-17	24	93				
CEP44	80817	broad.mit.edu	37	4	175232005	175232005	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:175232005T>G	ENST00000503780.1	+	9	1371	c.957T>G	c.(955-957)aaT>aaG	p.N319K	CEP44_ENST00000426172.1_Missense_Mutation_p.N319K|CEP44_ENST00000296519.4_Missense_Mutation_p.N319K|CEP44_ENST00000457424.2_Missense_Mutation_p.N319K	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	319						centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922)				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						ACCTTCTGAATCCTCGTAAGT	0.274																																						uc003itr.2		NA																	0					0						c.(955-957)AAT>AAG		HBV PreS1-transactivated protein 3 isoform a							113.0	126.0	121.0					4																	175232005		2202	4291	6493	SO:0001583	missense	80817					centrosome|midbody|spindle pole		g.chr4:175232005T>G	AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118			29356	protein-coding gene	gene with protein product			"""KIAA1712"""	KIAA1712		21399614	Standard	NM_001040157		Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.957T>G	4.37:g.175232005T>G	ENSP00000423153:p.Asn319Lys					KIAA1712_uc010iro.2_Missense_Mutation_p.N319K|KIAA1712_uc003its.2_RNA	p.N319K	NM_001040157	NP_001035247	Q9C0F1	CEP44_HUMAN		all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949)	9	1371	+		Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)	319					A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	Missense_Mutation	SNP	ENST00000503780.1	37	c.957T>G	CCDS34106.1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.064006	0.36373	.	.	ENSG00000164118	ENST00000503780;ENST00000457424;ENST00000426172;ENST00000296519	T;T;T;T	0.40756	1.04;1.02;1.02;1.04	5.46	-6.28	0.02020	.	0.703054	0.13688	N	0.369718	T	0.17704	0.0425	L	0.31294	0.92	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.003	T	0.34329	-0.9833	10	0.09084	T	0.74	.	2.3058	0.04173	0.1321:0.3717:0.2374:0.2589	.	319;319	Q9C0F1-2;Q9C0F1	.;CEP44_HUMAN	K	319	ENSP00000423153:N319K;ENSP00000389427:N319K;ENSP00000408221:N319K;ENSP00000296519:N319K	ENSP00000296519:N319K	N	+	3	2	CEP44	175468580	0.000000	0.05858	0.000000	0.03702	0.210000	0.24377	-0.430000	0.06973	-1.067000	0.03160	0.528000	0.53228	AAT		0.274	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362109.2	NM_030633		22	65	0	0	0	0	22	65				
FAT1	2195	broad.mit.edu	37	4	187524850	187524850	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:187524850G>C	ENST00000441802.2	-	19	11039	c.10830C>G	c.(10828-10830)taC>taG	p.Y3610*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3610	Cadherin 33. {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						CATTGAGAAGGTATTGCCCTA	0.498										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.(10828-10830)TAC>TAG		FAT tumor suppressor 1 precursor							124.0	126.0	125.0					4																	187524850		2181	4275	6456	SO:0001587	stop_gained	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.chr4:187524850G>C	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.10830C>G	4.37:g.187524850G>C	ENSP00000406229:p.Tyr3610*	HNSCC(5;0.00058)					p.Y3610*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			19	11018	-			3610			Extracellular (Potential).|Cadherin 33.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.10830C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	52	19.324770	0.99918	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.21	2.58	0.30949	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4848	0.33065	0.2954:0.0:0.7046:0.0	.	.	.	.	X	3610;3612	.	ENSP00000260147:Y3612X	Y	-	3	2	FAT1	187761844	1.000000	0.71417	0.998000	0.56505	0.656000	0.38851	2.395000	0.44459	0.371000	0.24564	-0.251000	0.11542	TAC		0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		6	20	0	0	0	0	6	20				
VCAN	1462	broad.mit.edu	37	5	82817939	82817939	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:82817939G>A	ENST00000265077.3	+	7	4379	c.3814G>A	c.(3814-3816)Gaa>Aaa	p.E1272K	VCAN_ENST00000342785.4_Missense_Mutation_p.E1272K|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E1224K|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1272	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CAAGGAAACAGAAACCGATAT	0.453																																						uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(3814-3816)GAA>AAA		versican isoform 1 precursor							108.0	104.0	105.0					5																	82817939		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82817939G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3814G>A	5.37:g.82817939G>A	ENSP00000265077:p.Glu1272Lys					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.E1272K|VCAN_uc003kik.3_Intron	p.E1272K	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	4170	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1272			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.3814G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915562	0.52546	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.91180	-2.8;-2.2;-2.23	5.81	5.81	0.92471	.	0.199091	0.36740	N	0.002435	D	0.94781	0.8315	M	0.71581	2.175	0.42428	D	0.99266	D;D	0.76494	0.998;0.999	D;P	0.63488	0.915;0.877	D	0.94516	0.7723	10	0.59425	D	0.04	.	20.0833	0.97789	0.0:0.0:1.0:0.0	.	1272;1272	P13611-3;P13611	.;CSPG2_HUMAN	K	1272;1272;1224	ENSP00000265077:E1272K;ENSP00000342768:E1272K;ENSP00000425959:E1224K	ENSP00000265077:E1272K	E	+	1	0	VCAN	82853695	1.000000	0.71417	0.921000	0.36526	0.041000	0.13682	6.746000	0.74866	2.756000	0.94617	0.655000	0.94253	GAA		0.453	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		10	68	0	0	0	0	10	68				
FAM172A	83989	broad.mit.edu	37	5	93294538	93294538	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:93294538T>C	ENST00000395965.3	-	6	653	c.511A>G	c.(511-513)Ata>Gta	p.I171V	FAM172A_ENST00000509163.1_Missense_Mutation_p.I125V|FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	171						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TCTTCATTTATAATAAGTCTT	0.388																																						uc010jbd.2		NA																	0					0						c.(511-513)ATA>GTA		hypothetical protein LOC83989 isoform 1							128.0	126.0	127.0					5																	93294538		2203	4300	6503	SO:0001583	missense	83989					endoplasmic reticulum|extracellular region		g.chr5:93294538T>C		CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.511A>G	5.37:g.93294538T>C	ENSP00000379294:p.Ile171Val					FAM172A_uc011cuf.1_Missense_Mutation_p.I125V|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_RNA|FAM172A_uc011cuj.1_Intron|FAM172A_uc003kkm.3_Missense_Mutation_p.I171V	p.I171V	NM_032042	NP_114431	Q8WUF8	F172A_HUMAN			6	718	-			171					B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	ENST00000395965.3	37	c.511A>G	CCDS4069.1	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883467	0.72410	.	.	ENSG00000113391	ENST00000395965;ENST00000509163	T;T	0.47528	0.84;0.84	5.56	5.56	0.83823	Arb2 domain (1);	0.000000	0.85682	D	0.000000	T	0.71409	0.3336	M	0.89287	3.02	0.58432	D	0.999995	D;D	0.62365	0.977;0.991	P;D	0.72625	0.799;0.978	T	0.71797	-0.4484	10	0.18276	T	0.48	-22.4092	15.9947	0.80232	0.0:0.0:0.0:1.0	.	171;171	Q8WUF8;Q8WUF8-2	F172A_HUMAN;.	V	171;125	ENSP00000379294:I171V;ENSP00000423841:I125V	ENSP00000379294:I171V	I	-	1	0	FAM172A	93320294	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.001000	0.76297	2.238000	0.73509	0.477000	0.44152	ATA		0.388	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254100.3	NM_032042		16	81	0	0	0	0	16	81				
NUDT12	83594	broad.mit.edu	37	5	102894926	102894926	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:102894926A>T	ENST00000230792.2	-	3	546	c.450T>A	c.(448-450)ttT>ttA	p.F150L	NUDT12_ENST00000507423.1_Missense_Mutation_p.F132L	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	150					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		AGAAAAGAATAAAAACTGTGG	0.378																																						uc003koi.2		NA																	0					0						c.(448-450)TTT>TTA		nudix-type motif 12							43.0	48.0	46.0					5																	102894926		2202	4299	6501	SO:0001583	missense	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102894926A>T	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.450T>A	5.37:g.102894926A>T	ENSP00000230792:p.Phe150Leu					NUDT12_uc011cvb.1_Missense_Mutation_p.F132L	p.F150L	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	3	543	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	150					B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	37	c.450T>A	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.035501	0.54896	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.29917	1.55;1.55	6.16	5.0	0.66597	NADH pyrophosphatase-like, N-terminal (1);	0.104898	0.64402	D	0.000002	T	0.24122	0.0584	L	0.29908	0.895	0.30162	N	0.802071	B;B	0.15141	0.012;0.001	B;B	0.26202	0.067;0.016	T	0.11397	-1.0589	10	0.42905	T	0.14	-21.697	10.6338	0.45551	0.8741:0.0:0.1259:0.0	.	132;150	E7EM93;Q9BQG2	.;NUD12_HUMAN	L	150;132	ENSP00000230792:F150L;ENSP00000424521:F132L	ENSP00000230792:F150L	F	-	3	2	NUDT12	102922825	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.265000	0.51561	2.367000	0.80283	0.528000	0.53228	TTT		0.378	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		8	42	0	0	0	0	8	42				
KIF3A	11127	broad.mit.edu	37	5	132069993	132069993	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:132069993T>G	ENST00000378746.4	-	2	402	c.184A>C	c.(184-186)Act>Cct	p.T62P	KIF3A_ENST00000403231.1_Missense_Mutation_p.T62P|KIF3A_ENST00000378735.1_Missense_Mutation_p.T62P	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	62	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTATCAAAAGTAAATGTCTTT	0.368																																						uc003kxo.2		NA																	0				pancreas(1)	1						c.(184-186)ACT>CCT		kinesin family member 3A							193.0	191.0	191.0					5																	132069993		2203	4300	6503	SO:0001583	missense	11127				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	g.chr5:132069993T>G	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.184A>C	5.37:g.132069993T>G	ENSP00000368020:p.Thr62Pro					KIF3A_uc003kxn.2_Missense_Mutation_p.T21P|KIF3A_uc011cxf.1_Missense_Mutation_p.T62P|KIF3A_uc003kxp.2_Missense_Mutation_p.T62P	p.T62P	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	338	-		all_cancers(142;0.0751)|Breast(839;0.198)	62			Kinesin-motor.		A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	c.184A>C	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399273	0.83120	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000403231;ENST00000450914;ENST00000428744	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.72	5.72	0.89469	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.88024	0.6326	M	0.87682	2.9	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.993;0.994	D;D;D;D	0.83275	0.996;0.993;0.965;0.914	D	0.90088	0.4175	10	0.87932	D	0	.	15.9926	0.80217	0.0:0.0:0.0:1.0	.	62;62;62;62	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	P	62;62;62;62;32;61	ENSP00000368020:T62P;ENSP00000368009:T62P;ENSP00000385808:T62P;ENSP00000391863:T61P	ENSP00000368009:T62P	T	-	1	0	KIF3A	132097892	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.040000	0.89188	2.185000	0.69588	0.260000	0.18958	ACT		0.368	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		38	126	0	0	0	0	38	126				
PCDHA4	56144	broad.mit.edu	37	5	140188217	140188217	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:140188217C>T	ENST00000530339.1	+	1	1445	c.1445C>T	c.(1444-1446)gCg>gTg	p.A482V	PCDHA4_ENST00000512229.2_Missense_Mutation_p.A482V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A482V|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	482	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGGACGCGGACGCGCAG	0.657																																						uc003lhi.2		NA																	0				ovary(4)|skin(2)	6						c.(1444-1446)GCG>GTG		protocadherin alpha 4 isoform 1 precursor							62.0	65.0	64.0					5																	140188217		2203	4300	6503	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188217C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1445C>T	5.37:g.140188217C>T	ENSP00000435300:p.Ala482Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A482V|PCDHA4_uc011daa.1_Missense_Mutation_p.A482V	p.A482V	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1546	+			482			Cadherin 5.|Extracellular (Potential).		O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1445C>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	10.84	1.462938	0.26248	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.61627	0.09;0.09;0.09	4.18	2.38	0.29361	Cadherin (4);Cadherin-like (1);	0.515983	0.13992	N	0.348750	T	0.46112	0.1376	L	0.37507	1.11	0.23693	N	0.997099	B;P;P	0.38167	0.351;0.469;0.621	B;B;B	0.36504	0.099;0.226;0.209	T	0.31558	-0.9939	10	0.66056	D	0.02	.	9.8686	0.41160	0.0:0.8284:0.0:0.1716	.	482;482;482	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	V	482	ENSP00000423470:A482V;ENSP00000349344:A482V;ENSP00000435300:A482V	ENSP00000349344:A482V	A	+	2	0	PCDHA4	140168401	0.000000	0.05858	0.774000	0.31636	0.359000	0.29487	0.490000	0.22403	0.368000	0.24481	-0.232000	0.12228	GCG		0.657	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		16	59	0	0	0	0	16	59				
PCDHB8	56128	broad.mit.edu	37	5	140558908	140558908	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:140558908G>C	ENST00000239444.2	+	1	1538	c.1293G>C	c.(1291-1293)agG>agC	p.R431S	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	431	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACACCCAGGCTGACAACAC	0.532																																						uc011dai.1		NA																	0				skin(4)	4						c.(1291-1293)AGG>AGC		protocadherin beta 8 precursor							181.0	225.0	210.0					5																	140558908		2203	4300	6503	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558908G>C	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1293G>C	5.37:g.140558908G>C	ENSP00000239444:p.Arg431Ser					PCDHB16_uc003liv.2_5'Flank	p.R431S	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1479	+			431			Cadherin 4.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1293G>C	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	1.291	-0.607626	0.03717	.	.	ENSG00000120322	ENST00000239444	T	0.50001	0.76	3.95	-3.69	0.04450	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.39489	0.1080	L	0.41573	1.285	0.09310	N	1	B	0.26041	0.14	B	0.42738	0.396	T	0.53989	-0.8360	9	0.39692	T	0.17	.	0.4986	0.00576	0.3199:0.1142:0.2462:0.3197	.	431	Q9UN66	PCDB8_HUMAN	S	431	ENSP00000239444:R431S	ENSP00000239444:R431S	R	+	3	2	PCDHB8	140539092	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.212000	0.00555	-0.927000	0.03766	-0.680000	0.03767	AGG		0.532	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		19	69	0	0	0	0	19	69				
PCDHB15	56121	broad.mit.edu	37	5	140627104	140627104	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:140627104C>T	ENST00000231173.3	+	1	1958	c.1958C>T	c.(1957-1959)tCg>tTg	p.S653L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	653	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCGCGCTCGGCCACCGCC	0.697																																						uc003lje.2		NA																	0				ovary(2)|breast(2)|skin(1)	5						c.(1957-1959)TCG>TTG		protocadherin beta 15 precursor							33.0	36.0	35.0					5																	140627104		2171	4248	6419	SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627104C>T	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1958C>T	5.37:g.140627104C>T	ENSP00000231173:p.Ser653Leu						p.S653L	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1958	+			653			Extracellular (Potential).|Cadherin 6.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.1958C>T	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763736	0.49574	.	.	ENSG00000113248	ENST00000231173	T	0.55588	0.51	4.58	3.7	0.42460	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75265	0.3826	M	0.89840	3.065	0.40479	D	0.980422	D	0.89917	1.0	D	0.75020	0.985	T	0.81088	-0.1091	9	0.87932	D	0	.	12.4751	0.55809	0.0:0.9162:0.0:0.0838	.	653	Q9Y5E8	PCDBF_HUMAN	L	653	ENSP00000231173:S653L	ENSP00000231173:S653L	S	+	2	0	PCDHB15	140607288	1.000000	0.71417	0.811000	0.32455	0.113000	0.19764	5.621000	0.67743	1.068000	0.40764	0.549000	0.68633	TCG		0.697	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		19	60	0	0	0	0	19	60				
FGF1	2246	broad.mit.edu	37	5	141974914	141974914	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:141974914G>A	ENST00000359370.6	-	4	488	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	FGF1_ENST00000337706.2_Missense_Mutation_p.R137W|FGF1_ENST00000378046.1_Missense_Mutation_p.R137W|FGF1_ENST00000494579.1_5'UTR|FGF1_ENST00000360966.5_3'UTR|AC005592.2_ENST00000443800.1_RNA|AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000407758.1_3'UTR|FGF1_ENST00000419524.2_Missense_Mutation_p.R137W	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	137	Heparin-binding.				anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|branch elongation involved in ureteric bud branching (GO:0060681)|cell differentiation (GO:0030154)|cellular response to heat (GO:0034605)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesonephric epithelium development (GO:0072163)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Amlexanox(DB01025)|Pazopanib(DB06589)|Pentosan Polysulfate(DB00686)	TAGTGAGTCCGAGGACCGCGT	0.478																																						uc003lmm.2		NA																	0					0						c.(409-411)CGG>TGG		fibroblast growth factor 1 (acidic) isoform 1	Pentosan Polysulfate(DB00686)						129.0	118.0	122.0					5																	141974914		2203	4300	6503	SO:0001583	missense	2246				angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding	g.chr5:141974914G>A	X59065	CCDS4275.1, CCDS4276.1	5q31.3-q33.2	2014-01-30			ENSG00000113578	ENSG00000113578		"""Endogenous ligands"""	3665	protein-coding gene	gene with protein product	"""heparin-binding growth factor 1"", ""endothelial cell growth factor, alpha"", ""endothelial cell growth factor, beta"""	131220		FGFA		1697263, 3523756	Standard	NM_033137		Approved	AFGF, ECGF, ECGFA, ECGFB, HBGF1, ECGF-beta, FGF-alpha, GLIO703	uc031slo.1	P05230	OTTHUMG00000059703	ENST00000359370.6:c.409C>T	5.37:g.141974914G>A	ENSP00000352329:p.Arg137Trp					FGF1_uc011dbi.1_3'UTR|FGF1_uc003lmn.3_Missense_Mutation_p.R137W|FGF1_uc003lmp.3_3'UTR|FGF1_uc003lmq.2_Missense_Mutation_p.R137W|FGF1_uc010jgj.2_Missense_Mutation_p.R136W|FGF1_uc003lmr.2_Missense_Mutation_p.R137W|FGF1_uc003lms.3_Missense_Mutation_p.R137W	p.R137W	NM_001144892	NP_001138364	P05230	FGF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	4	489	-		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	137			Heparin-binding.		B2R5T0|D3DQF2|P07502|Q16588	Missense_Mutation	SNP	ENST00000359370.6	37	c.409C>T	CCDS4275.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799958	0.70567	.	.	ENSG00000113578	ENST00000359370;ENST00000378046;ENST00000337706;ENST00000441680;ENST00000419524	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.87	4.92	0.64577	.	0.080899	0.50627	D	0.000103	D	0.92384	0.7583	M	0.91872	3.25	0.53688	D	0.999971	D;D	0.76494	0.997;0.999	P;D	0.68765	0.766;0.96	D	0.93660	0.6981	10	0.87932	D	0	.	15.8081	0.78531	0.0:0.0:0.7767:0.2233	.	136;137	A8K147;P05230	.;FGF1_HUMAN	W	137	ENSP00000352329:R137W;ENSP00000367285:R137W;ENSP00000338548:R137W;ENSP00000404742:R137W;ENSP00000396195:R137W	ENSP00000338548:R137W	R	-	1	2	FGF1	141955098	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.668000	0.54554	2.774000	0.95407	0.650000	0.86243	CGG		0.478	FGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132735.2	NM_000800		15	41	0	0	0	0	15	41				
TCERG1	10915	broad.mit.edu	37	5	145878147	145878147	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:145878147C>G	ENST00000296702.5	+	16	2318	c.2280C>G	c.(2278-2280)ttC>ttG	p.F760L	TCERG1_ENST00000394421.2_Missense_Mutation_p.F739L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	760	FF 2.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTCAAGATTCAAAGCAATTG	0.388																																						uc003lob.2		NA																	0				ovary(1)|skin(1)	2						c.(2278-2280)TTC>TTG		transcription elongation regulator 1 isoform 1							103.0	104.0	103.0					5																	145878147		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145878147C>G	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2280C>G	5.37:g.145878147C>G	ENSP00000296702:p.Phe760Leu					TCERG1_uc003loc.2_Missense_Mutation_p.F739L	p.F760L	NM_006706	NP_006697	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		16	2320	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	760			FF 2.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.2280C>G	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604467	0.66445	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.37915	1.17;1.17	5.51	2.79	0.32731	FF domain (4);	0.000000	0.85682	D	0.000000	T	0.59211	0.2177	M	0.83483	2.645	0.58432	D	0.999992	D;D	0.76494	0.999;0.996	D;D	0.78314	0.977;0.991	T	0.60031	-0.7342	10	0.56958	D	0.05	-7.1787	10.6187	0.45467	0.0:0.7924:0.0:0.2076	.	739;760	O14776-2;O14776	.;TCRG1_HUMAN	L	760;739	ENSP00000296702:F760L;ENSP00000377943:F739L	ENSP00000296702:F760L	F	+	3	2	TCERG1	145858340	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.693000	0.37742	0.385000	0.24970	0.655000	0.94253	TTC		0.388	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		16	43	0	0	0	0	16	43				
ATP10B	23120	broad.mit.edu	37	5	160063201	160063201	+	Silent	SNP	G	G	T	rs372404384		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:160063201G>T	ENST00000327245.5	-	11	1962	c.1116C>A	c.(1114-1116)atC>atA	p.I372I	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	372					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGCAGGATGATCATTGTGA	0.493																																						uc003lym.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1114-1116)ATC>ATA		ATPase, class V, type 10B							69.0	68.0	68.0					5																	160063201		1892	4117	6009	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160063201G>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1116C>A	5.37:g.160063201G>T						ATP10B_uc003lyp.2_Silent_p.I372I|ATP10B_uc011deg.1_Silent_p.I416I|ATP10B_uc003lyn.2_5'Flank|ATP10B_uc003lyo.2_Silent_p.I344I	p.I372I	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1963	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	372			Helical; (Potential).		Q9H725	Silent	SNP	ENST00000327245.5	37	c.1116C>A	CCDS43394.1																																																																																				0.493	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		10	48	1	0	3.86e-05	4.14e-05	10	48				
HIST1H2AH	85235	broad.mit.edu	37	6	27115271	27115271	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:27115271G>A	ENST00000377459.1	+	1	411	c.364G>A	c.(364-366)Gag>Aag	p.E122K	MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_5'Flank|HIST1H2BK_ENST00000356950.1_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						TAAGAAGACTGAGAGCCACCA	0.522																																						uc003niz.2		NA																	0					0						c.(364-366)GAG>AAG		histone cluster 1, H2ah							59.0	62.0	61.0					6																	27115271		2203	4300	6503	SO:0001583	missense	85235				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27115271G>A	AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"""Histones / Replication-dependent"""	13671	protein-coding gene	gene with protein product		615013	"""histone 1, H2ah"""			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.364G>A	6.37:g.27115271G>A	ENSP00000366679:p.Glu122Lys					HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank	p.E122K	NM_080596	NP_542163	Q96KK5	H2A1H_HUMAN			1	364	+			122						Missense_Mutation	SNP	ENST00000377459.1	37	c.364G>A	CCDS4622.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198379	0.38806	.	.	ENSG00000184825	ENST00000377459	D	0.90261	-2.64	4.06	4.06	0.47325	Histone-fold (2);Histone H2A (1);	0.000000	0.41500	D	0.000879	T	0.73892	0.3645	N	0.12527	0.23	0.38976	D	0.958849	B	0.19935	0.04	B	0.19148	0.024	T	0.72320	-0.4329	10	0.39692	T	0.17	.	14.5447	0.68020	0.0:0.0:1.0:0.0	.	122	Q96KK5	H2A1H_HUMAN	K	122	ENSP00000366679:E122K	ENSP00000366679:E122K	E	+	1	0	HIST1H2AH	27223250	1.000000	0.71417	0.997000	0.53966	0.484000	0.33280	8.660000	0.91121	2.201000	0.70794	0.655000	0.94253	GAG		0.522	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040136.1	NM_080596		5	43	0	0	0	0	5	43				
VARS	7407	broad.mit.edu	37	6	31749380	31749380	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:31749380C>T	ENST00000375663.3	-	21	2862	c.2422G>A	c.(2422-2424)Gaa>Aaa	p.E808K	Y_RNA_ENST00000364685.1_RNA|VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	808					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CTCAGGTCTTCTGACTGAGGG	0.637																																						uc003nxe.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(2422-2424)GAA>AAA		valyl-tRNA synthetase	L-Valine(DB00161)						53.0	52.0	52.0					6																	31749380		1509	2708	4217	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31749380C>T	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2422G>A	6.37:g.31749380C>T	ENSP00000364815:p.Glu808Lys					VARS_uc003nxf.1_5'Flank	p.E808K	NM_006295	NP_006286	P26640	SYVC_HUMAN			21	2845	-			808					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.2422G>A	CCDS34412.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.55|10.55	1.382011|1.382011	0.24944|0.24944	.|.	.|.	ENSG00000204394|ENSG00000204394	ENST00000375663|ENST00000428445	T|.	0.34859|.	1.34|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);|.	0.095743|.	0.64402|.	D|.	0.000001|.	T|T	0.42539|0.42539	0.1207|0.1207	N|N	0.21142|0.21142	0.635|0.635	0.80722|0.80722	D|D	1|1	B|.	0.25486|.	0.127|.	B|.	0.33960|.	0.173|.	T|T	0.32981|0.32981	-0.9886|-0.9886	10|5	0.22109|.	T|.	0.4|.	-11.8161|-11.8161	17.2093|17.2093	0.86926|0.86926	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	808|.	P26640|.	SYVC_HUMAN|.	K|K	808|125	ENSP00000364815:E808K|.	ENSP00000364815:E808K|.	E|R	-|-	1|2	0|0	VARS|VARS	31857359|31857359	0.953000|0.953000	0.32496|0.32496	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	2.088000|2.088000	0.41663|0.41663	2.664000|2.664000	0.90586|0.90586	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.637	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		13	40	0	0	0	0	13	40				
TFEB	7942	broad.mit.edu	37	6	41655657	41655657	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:41655657C>T	ENST00000230323.4	-	6	960	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	TFEB_ENST00000403298.4_Missense_Mutation_p.R220Q|TFEB_ENST00000420312.1_Missense_Mutation_p.R135Q|TFEB_ENST00000373033.1_Missense_Mutation_p.R220Q|TFEB_ENST00000358871.2_Missense_Mutation_p.R234Q|TFEB_ENST00000394283.1_Missense_Mutation_p.R220Q	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	220					autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TGTGAGCTCTCGCTTCTGGGT	0.612			T	ALPHA	renal (childhood epithelioid)																																	uc003oqs.1		NA		Dom	yes		6	6p21	7942	T	transcription factor EB			"""E,M"""	ALPHA		renal (childhood epithelioid)		0				ovary(1)	1						c.(658-660)CGA>CAA		transcription factor EB							82.0	79.0	80.0					6																	41655657		2203	4300	6503	SO:0001583	missense	7942				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr6:41655657C>T	M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.659G>A	6.37:g.41655657C>T	ENSP00000230323:p.Arg220Gln					TFEB_uc003oqt.1_Missense_Mutation_p.R220Q|TFEB_uc003oqu.1_Missense_Mutation_p.R234Q|TFEB_uc003oqv.1_Missense_Mutation_p.R220Q|TFEB_uc010jxo.1_Missense_Mutation_p.R220Q|TFEB_uc003oqr.1_Missense_Mutation_p.R135Q	p.R220Q	NM_007162	NP_009093	P19484	TFEB_HUMAN	Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		6	961	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		220					Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Missense_Mutation	SNP	ENST00000230323.4	37	c.659G>A	CCDS4858.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815600	0.70912	.	.	ENSG00000112561	ENST00000406563;ENST00000343317;ENST00000230323;ENST00000358871;ENST00000403298;ENST00000420312;ENST00000373033;ENST00000394283;ENST00000419396;ENST00000416140;ENST00000419574	T;T;T;T;T;T;T;T;T;T;T	0.51574	1.75;1.77;1.79;1.78;1.79;1.76;1.79;1.35;1.35;1.27;0.7	5.39	4.53	0.55603	.	0.052234	0.64402	N	0.000001	T	0.28067	0.0692	L	0.57536	1.79	0.58432	D	0.999996	B;B;B;B	0.27971	0.123;0.123;0.07;0.196	B;B;B;B	0.18263	0.009;0.003;0.003;0.021	T	0.28396	-1.0045	10	0.87932	D	0	-3.6464	11.8612	0.52467	0.0:0.9184:0.0:0.0816	.	306;234;220;135	B0QYS7;B0QYS6;P19484;P19484-2	.;.;TFEB_HUMAN;.	Q	78;306;220;234;220;135;220;220;220;220;220	ENSP00000383998:R78Q;ENSP00000343948:R306Q;ENSP00000230323:R220Q;ENSP00000351742:R234Q;ENSP00000384203:R220Q;ENSP00000412551:R135Q;ENSP00000362124:R220Q;ENSP00000377824:R220Q;ENSP00000410391:R220Q;ENSP00000406491:R220Q;ENSP00000400276:R220Q	ENSP00000230323:R220Q	R	-	2	0	TFEB	41763635	1.000000	0.71417	0.980000	0.43619	0.938000	0.57974	3.328000	0.52052	1.283000	0.44513	0.555000	0.69702	CGA		0.612	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3			14	53	0	0	0	0	14	53				
KIAA1919	91749	broad.mit.edu	37	6	111587430	111587430	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:111587430G>A	ENST00000368847.4	+	4	1018	c.665G>A	c.(664-666)cGa>cAa	p.R222Q		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	222					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GAGACATTTCGAAGAGCAAAA	0.343																																						uc003puv.3		NA																	0				ovary(3)	3						c.(664-666)CGA>CAA		sodium-dependent glucose transporter 1							103.0	95.0	98.0					6																	111587430		2203	4300	6503	SO:0001583	missense	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111587430G>A	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.665G>A	6.37:g.111587430G>A	ENSP00000357840:p.Arg222Gln						p.R222Q	NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	4	1087	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	222			Cytoplasmic (Potential).		A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	37	c.665G>A	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	G	8.174	0.792411	0.16258	.	.	ENSG00000173214	ENST00000368847	T	0.58940	0.3	5.85	3.12	0.35913	Major facilitator superfamily domain, general substrate transporter (1);	0.517173	0.20837	N	0.084771	T	0.16385	0.0394	N	0.17379	0.485	0.09310	N	0.999996	B	0.24483	0.104	B	0.23852	0.049	T	0.24584	-1.0156	10	0.11794	T	0.64	-2.2285	10.0065	0.41959	0.3185:0.0:0.6815:0.0	.	222	Q5TF39	NAGT1_HUMAN	Q	222	ENSP00000357840:R222Q	ENSP00000357840:R222Q	R	+	2	0	KIAA1919	111694123	0.000000	0.05858	0.936000	0.37596	0.143000	0.21401	-0.422000	0.07043	0.827000	0.34685	0.643000	0.83706	CGA		0.343	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		13	32	0	0	0	0	13	32				
ROS1	6098	broad.mit.edu	37	6	117687343	117687343	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:117687343A>C	ENST00000368508.3	-	18	2906	c.2708T>G	c.(2707-2709)aTt>aGt	p.I903S	ROS1_ENST00000368507.3_Missense_Mutation_p.I898S|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	903					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGTTGTGATAATCCTAAAGCC	0.423			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NA		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		0				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(2707-2709)ATT>AGT		proto-oncogene c-ros-1 protein precursor							165.0	165.0	165.0					6																	117687343		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117687343A>C	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2708T>G	6.37:g.117687343A>C	ENSP00000357494:p.Ile903Ser					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.I903S	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	18	2907	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	903			Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.2708T>G	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.350345	0.24512	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.71222	-0.55;-0.55	4.82	4.82	0.62117	.	0.462303	0.19552	N	0.111554	T	0.36468	0.0968	N	0.24115	0.695	0.35099	D	0.765047	P	0.37466	0.596	B	0.29785	0.107	T	0.46569	-0.9182	10	0.49607	T	0.09	.	9.3259	0.37993	0.84:0.0:0.0:0.16	.	903	P08922	ROS1_HUMAN	S	903;898	ENSP00000357494:I903S;ENSP00000357493:I898S	ENSP00000357493:I898S	I	-	2	0	ROS1	117794036	0.855000	0.29742	0.917000	0.36280	0.772000	0.43724	2.609000	0.46317	1.945000	0.56424	0.528000	0.53228	ATT		0.423	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			16	106	0	0	0	0	16	106				
SERINC1	57515	broad.mit.edu	37	6	122777667	122777667	+	Silent	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:122777667T>C	ENST00000339697.4	-	3	414	c.330A>G	c.(328-330)aaA>aaG	p.K110K		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	110					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		TACTCTTCACTTTGATCATTA	0.378																																						uc003pyy.1		NA																	0				ovary(1)	1						c.(328-330)AAA>AAG		serine incorporator 1							117.0	106.0	110.0					6																	122777667		2203	4300	6503	SO:0001819	synonymous_variant	57515				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding	g.chr6:122777667T>C	AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"""tumor differentially expressed 2"""	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.330A>G	6.37:g.122777667T>C							p.K110K	NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN		GBM - Glioblastoma multiforme(226;0.126)	3	400	-			110			Cytoplasmic (Potential).		B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Silent	SNP	ENST00000339697.4	37	c.330A>G	CCDS5125.1																																																																																				0.378	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		11	38	0	0	0	0	11	38				
BCLAF1	9774	broad.mit.edu	37	6	136597369	136597369	+	Missense_Mutation	SNP	C	C	T	rs377401319		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:136597369C>T	ENST00000531224.1	-	5	1546	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	BCLAF1_ENST00000353331.4_Missense_Mutation_p.E430K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E430K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E432K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E430K|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	432					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCTTCCTCCTCAGTATTCCGG	0.413																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	0				ovary(1)	1						c.(1294-1296)GAG>AAG		BCL2-associated transcription factor 1 isoform		C	LYS/GLU,,LYS/GLU	0,4406		0,0,2203	203.0	200.0	201.0		1288,,1294	5.2	1.0	6		201	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,missense	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	56,,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,,possibly-damaging	430/870,,432/921	136597369	1,13005	2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597369C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1294G>A	6.37:g.136597369C>T	ENSP00000435210:p.Glu432Lys					BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Missense_Mutation_p.E430K|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.E430K	p.E432K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1547	-	Colorectal(23;0.24)		432					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1294G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200864	0.58234	0.0	1.16E-4	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000006	T	0.13756	0.0333	L	0.36672	1.1	0.80722	D	1	D;D;D	0.56287	0.975;0.975;0.975	P;P;P	0.52957	0.714;0.714;0.714	T	0.01966	-1.1238	10	0.36615	T	0.2	-11.6975	19.2213	0.93797	0.0:1.0:0.0:0.0	.	430;430;432	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	K	432;430;432;430;430;432	ENSP00000435210:E432K;ENSP00000229446:E430K;ENSP00000435441:E432K;ENSP00000434826:E430K;ENSP00000376159:E430K;ENSP00000431734:E432K	ENSP00000229446:E430K	E	-	1	0	BCLAF1	136639062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.255000	0.72466	2.615000	0.88500	0.650000	0.86243	GAG		0.413	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		13	218	0	0	0	0	13	218				
MAP7	9053	broad.mit.edu	37	6	136710510	136710510	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:136710510C>G	ENST00000354570.3	-	4	800	c.390G>C	c.(388-390)caG>caC	p.Q130H	MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000454590.1_Missense_Mutation_p.Q152H|MAP7_ENST00000438100.2_Missense_Mutation_p.Q152H|MAP7_ENST00000544465.1_Missense_Mutation_p.Q115H	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	130					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CCTCAAGTCTCTGCCTCCGCT	0.562																																						uc003qgz.2		NA																	0					0						c.(388-390)CAG>CAC		microtubule-associated protein 7							129.0	125.0	126.0					6																	136710510		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136710510C>G	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.390G>C	6.37:g.136710510C>G	ENSP00000346581:p.Gln130His					MAP7_uc011edf.1_Missense_Mutation_p.Q115H|MAP7_uc011edg.1_Missense_Mutation_p.Q152H|MAP7_uc010kgu.2_Missense_Mutation_p.Q152H|MAP7_uc011edh.1_Missense_Mutation_p.Q152H|MAP7_uc010kgv.2_Missense_Mutation_p.Q152H|MAP7_uc010kgs.2_5'UTR|MAP7_uc011edi.1_5'UTR|MAP7_uc010kgq.1_Intron|MAP7_uc003qha.1_Missense_Mutation_p.Q130H|MAP7_uc010kgr.2_Intron|MAP7_uc010kgt.2_Missense_Mutation_p.Q152H	p.Q130H	NM_003980	NP_003971	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	4	636	-	Colorectal(23;0.24)		130			Potential.		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.390G>C	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121481	0.56613	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	5.62	5.62	0.85841	.	0.000000	0.53938	D	0.000043	T	0.28433	0.0703	M	0.87269	2.87	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.996;1.0;1.0	D;D;D;D;P;D;D	0.78314	0.98;0.98;0.991;0.98;0.894;0.991;0.98	T	0.03221	-1.1059	10	0.52906	T	0.07	-22.9256	12.9429	0.58357	0.0:0.9259:0.0:0.0741	.	152;152;115;152;152;130;130	B7Z290;B7ZB64;F5H1E2;E9PCP3;B7Z400;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	H	130;152;115;152	ENSP00000346581:Q130H;ENSP00000414712:Q152H;ENSP00000445737:Q115H;ENSP00000400790:Q152H	ENSP00000346581:Q130H	Q	-	3	2	MAP7	136752203	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.770000	0.38532	2.654000	0.90174	0.557000	0.71058	CAG		0.562	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		20	89	0	0	0	0	20	89				
SYNE1	23345	broad.mit.edu	37	6	152694261	152694261	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:152694261C>T	ENST00000367255.5	-	59	10019	c.9418G>A	c.(9418-9420)Gcg>Acg	p.A3140T	SYNE1_ENST00000265368.4_Missense_Mutation_p.A3140T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3147T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3179T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3147T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3140					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)		ATCCCTTTCGCTTTCTCTTTG	0.393										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.(9418-9420)GCG>ACG		spectrin repeat containing, nuclear envelope 1							164.0	170.0	168.0					6																	152694261		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.chr6:152694261C>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.9418G>A	6.37:g.152694261C>T	ENSP00000356224:p.Ala3140Thr	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.A3147T|SYNE1_uc003qou.3_Missense_Mutation_p.A3140T|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Missense_Mutation_p.A218T	p.A3140T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	59	10020	-		Ovarian(120;0.0955)	3140			Cytoplasmic (Potential).		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.9418G>A	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.32|14.32	2.501553|2.501553	0.44455|0.44455	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000469439	T;T;T;T;T|.	0.38077|.	1.16;1.16;1.16;1.16;1.16|.	5.96|5.96	5.09|5.09	0.68999|0.68999	.|.	0.092885|.	0.46758|.	D|.	0.000271|.	T|T	0.47746|0.47746	0.1462|0.1462	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.20368|.	0.005;0.044;0.005;0.015|.	B;B;B;B|.	0.23275|.	0.004;0.045;0.004;0.009|.	T|T	0.34725|0.34725	-0.9817|-0.9817	10|5	0.09843|.	T|.	0.71|.	.|.	15.4594|15.4594	0.75342|0.75342	0.0:0.9328:0.0:0.0672|0.0:0.9328:0.0:0.0672	.|.	3140;257;3140;3147|.	Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4|.	SYNE1_HUMAN;.;.;.|.	T|N	3140;3147;3140;3147;3179|4	ENSP00000356224:A3140T;ENSP00000396024:A3147T;ENSP00000265368:A3140T;ENSP00000390975:A3147T;ENSP00000341887:A3179T|.	ENSP00000265368:A3140T|.	A|S	-|-	1|2	0|0	SYNE1|SYNE1	152735954|152735954	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.036000|0.036000	0.12997|0.12997	2.957000|2.957000	0.49137|0.49137	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GCG|AGC		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		29	118	0	0	0	0	29	118				
THSD7A	221981	broad.mit.edu	37	7	11630197	11630197	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:11630197C>T	ENST00000423059.4	-	4	1594	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	448	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGGTTGCCGCGCCTCTTGTC	0.557										HNSCC(18;0.044)																												uc003ssf.3		NA																	0				ovary(3)	3						c.(1342-1344)CGC>CAC		thrombospondin, type I, domain containing 7A							50.0	55.0	53.0					7																	11630197		1993	4164	6157	SO:0001583	missense	221981					integral to membrane		g.chr7:11630197C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1343G>A	7.37:g.11630197C>T	ENSP00000406482:p.Arg448His	HNSCC(18;0.044)					p.R448H	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	4	1595	-			448			Extracellular (Potential).|TSP type-1 4.			Missense_Mutation	SNP	ENST00000423059.4	37	c.1343G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.024120	0.93462	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59638	0.25	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	M	0.63428	1.95	0.80722	D	1	B	0.32939	0.391	B	0.23852	0.049	T	0.52335	-0.8589	10	0.15499	T	0.54	.	20.0545	0.97645	0.0:1.0:0.0:0.0	.	448	Q9UPZ6	THS7A_HUMAN	H	448	ENSP00000406482:R448H	ENSP00000262042:R448H	R	-	2	0	THSD7A	11596722	0.998000	0.40836	0.498000	0.27564	0.852000	0.48524	6.026000	0.70873	2.748000	0.94277	0.655000	0.94253	CGC		0.557	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		9	29	0	0	0	0	9	29				
NPY	4852	broad.mit.edu	37	7	24324986	24324986	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:24324986G>A	ENST00000407573.1	+	3	417	c.127G>A	c.(127-129)Gag>Aag	p.E43K	NPY_ENST00000405982.1_Missense_Mutation_p.E43K|NPY_ENST00000242152.2_Missense_Mutation_p.E43K			P01303	NPY_HUMAN	neuropeptide Y	43					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CGCACCAGCGGAGGACATGGC	0.682																																						uc003sww.1		NA																	0					0						c.(127-129)GAG>AAG		neuropeptide Y precursor							82.0	62.0	69.0					7																	24324986		2203	4300	6503	SO:0001583	missense	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24324986G>A	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.127G>A	7.37:g.24324986G>A	ENSP00000384364:p.Glu43Lys						p.E43K	NM_000905	NP_000896	P01303	NPY_HUMAN			2	213	+			43						Missense_Mutation	SNP	ENST00000407573.1	37	c.127G>A	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	G	36	5.752421	0.96890	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.61627	0.09;0.09;0.09	5.86	5.86	0.93980	.	0.044737	0.85682	D	0.000000	T	0.79137	0.4395	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.80500	-0.1355	9	0.87932	D	0	-18.7164	20.1986	0.98248	0.0:0.0:1.0:0.0	.	43	P01303	NPY_HUMAN	K	43	ENSP00000242152:E43K;ENSP00000384364:E43K;ENSP00000385282:E43K	ENSP00000242152:E43K	E	+	1	0	NPY	24291511	1.000000	0.71417	0.997000	0.53966	0.762000	0.43233	9.824000	0.99380	2.781000	0.95711	0.650000	0.86243	GAG		0.682	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		7	27	0	0	0	0	7	27				
UPP1	7378	broad.mit.edu	37	7	48146983	48146983	+	Silent	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:48146983C>G	ENST00000331803.4	+	9	1295	c.672C>G	c.(670-672)ctC>ctG	p.L224L	UPP1_ENST00000341253.4_Silent_p.L224L|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000395564.4_Silent_p.L224L|UPP1_ENST00000429491.2_Silent_p.L87L			Q16831	UPP1_HUMAN	uridine phosphorylase 1	224					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	ATGGGGCTCTCTGCTCCTACA	0.582																																						uc003toj.2		NA																	0					0						c.(670-672)CTC>CTG		uridine phosphorylase 1							91.0	76.0	81.0					7																	48146983		2203	4300	6503	SO:0001819	synonymous_variant	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48146983C>G	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.672C>G	7.37:g.48146983C>G						UPP1_uc003tok.2_Silent_p.L224L|UPP1_uc003tol.2_Silent_p.L224L|UPP1_uc011kch.1_Silent_p.L17L|UPP1_uc003ton.2_Silent_p.L87L|UPP1_uc003too.2_Silent_p.L87L	p.L224L	NM_181597	NP_853628	Q16831	UPP1_HUMAN			9	1201	+			224					D3DVM4|Q15362	Silent	SNP	ENST00000331803.4	37	c.672C>G	CCDS5507.1																																																																																				0.582	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		21	36	0	0	0	0	21	36				
ZNF107	51427	broad.mit.edu	37	7	64167053	64167053	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:64167053G>A	ENST00000395391.1	+	4	1746	c.371G>A	c.(370-372)aGa>aAa	p.R124K	ZNF107_ENST00000423627.1_Missense_Mutation_p.R124K|ZNF107_ENST00000344930.3_Missense_Mutation_p.R124K			Q9UII5	ZN107_HUMAN	zinc finger protein 107	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R124I(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CAGCATAGAAGAATTCATACT	0.328																																						uc003ttd.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(370-372)AGA>AAA		zinc finger protein 107							27.0	28.0	27.0					7																	64167053		2201	4298	6499	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64167053G>A	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.371G>A	7.37:g.64167053G>A	ENSP00000378789:p.Arg124Lys					ZNF107_uc003tte.2_Missense_Mutation_p.R124K	p.R124K	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	1157	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	124			C2H2-type 2.			Missense_Mutation	SNP	ENST00000395391.1	37	c.371G>A	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	13.17	2.156370	0.38119	.	.	ENSG00000196247	ENST00000541526;ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.18338	2.22;2.22;2.22	0.916	0.916	0.19373	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11879	0.0289	L	0.39397	1.21	0.23180	N	0.998161	B	0.22276	0.067	B	0.19666	0.026	T	0.33292	-0.9874	8	.	.	.	.	4.7421	0.13017	0.0:0.4037:0.5963:0.0	.	124	Q9UII5	ZN107_HUMAN	K	124	ENSP00000343443:R124K;ENSP00000400037:R124K;ENSP00000378789:R124K	.	R	+	2	0	ZNF107	63804488	0.000000	0.05858	0.838000	0.33150	0.875000	0.50365	-0.224000	0.09164	0.300000	0.22699	0.305000	0.20034	AGA		0.328	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		6	27	0	0	0	0	6	27				
PCLO	27445	broad.mit.edu	37	7	82585177	82585177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:82585177C>T	ENST00000333891.9	-	5	5429	c.5092G>A	c.(5092-5094)Gaa>Aaa	p.E1698K	PCLO_ENST00000423517.2_Missense_Mutation_p.E1698K	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						ATTTCCAATTCTGGCTCTTCG	0.433																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(5092-5094)GAA>AAA		piccolo isoform 1							99.0	90.0	93.0					7																	82585177		1863	4098	5961	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.chr7:82585177C>T	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.5092G>A	7.37:g.82585177C>T	ENSP00000334319:p.Glu1698Lys					PCLO_uc003uhv.2_Missense_Mutation_p.E1698K	p.E1698K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	5381	-			1629						Missense_Mutation	SNP	ENST00000333891.9	37	c.5092G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085961	0.36758	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.27104	1.69;1.7	5.56	5.56	0.83823	.	.	.	.	.	T	0.52805	0.1757	M	0.73962	2.25	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.66196	0.942;0.942	T	0.55366	-0.8152	9	0.87932	D	0	.	19.5248	0.95199	0.0:1.0:0.0:0.0	.	1698;1698	Q9Y6V0-5;Q9Y6V0-6	.;.	K	1629;1698;1698	ENSP00000334319:E1698K;ENSP00000388393:E1698K	ENSP00000334319:E1698K	E	-	1	0	PCLO	82423113	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.716000	0.74702	2.624000	0.88883	0.650000	0.86243	GAA		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		8	26	0	0	0	0	8	26				
SLC12A9	56996	broad.mit.edu	37	7	100457855	100457855	+	Splice_Site	SNP	G	G	A	rs372726782		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:100457855G>A	ENST00000354161.3	+	9	1343		c.e9+1		SLC12A9_ENST00000428758.1_Splice_Site|SLC12A9_ENST00000275729.3_Splice_Site|SLC12A9_ENST00000475623.1_Splice_Site|SLC12A9_ENST00000415287.1_Splice_Site|SLC12A9_ENST00000540482.1_Splice_Site	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCTGGTGCAGGTGAGCCTTCT	0.562																																						uc003uwp.2		NA																	0					0						c.e9+1		solute carrier family 12 (potassium/chloride		G		0,4406		0,0,2203	40.0	39.0	39.0			5.0	1.0	7		39	1,8599	1.2+/-3.3	0,1,4299	no	splice-5	SLC12A9	NM_020246.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077			100457855	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100457855G>A	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1218+1G>A	7.37:g.100457855G>A						SLC12A9_uc003uwq.2_Splice_Site_p.Q317_splice|SLC12A9_uc011kki.1_Translation_Start_Site|SLC12A9_uc003uwr.2_Splice_Site_p.Q142_splice|SLC12A9_uc003uws.2_Translation_Start_Site|SLC12A9_uc003uwt.2_Splice_Site_p.Q142_splice|SLC12A9_uc003uwv.2_Translation_Start_Site	p.Q406_splice	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			9	1360	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Splice_Site	SNP	ENST00000354161.3	37	c.1218_splice	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477738	0.84640	0.0	1.16E-4	ENSG00000146828	ENST00000540482;ENST00000418037;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000416675	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.882	0.79211	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC12A9	100295791	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.612000	0.98347	2.597000	0.87782	0.655000	0.94253	.		0.562	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246	Intron	8	26	0	0	0	0	8	26				
PLOD3	8985	broad.mit.edu	37	7	100859997	100859997	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:100859997C>T	ENST00000223127.3	-	2	578	c.180G>A	c.(178-180)gaG>gaA	p.E60E	ZNHIT1_ENST00000305105.2_5'Flank	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	60					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGTTGAAGAACTCCGCAGAGC	0.607																																						uc003uyd.2		NA																	0				ovary(1)|skin(1)	2						c.(178-180)GAG>GAA		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)						72.0	72.0	72.0					7																	100859997		2203	4300	6503	SO:0001819	synonymous_variant	8985				protein modification process	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 binding	g.chr7:100859997C>T	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.180G>A	7.37:g.100859997C>T						ZNHIT1_uc003uye.2_5'Flank|ZNHIT1_uc003uyf.2_5'Flank	p.E60E	NM_001084	NP_001075	O60568	PLOD3_HUMAN			2	636	-	Lung NSC(181;0.168)|all_lung(186;0.215)		60					B2R6W6|Q540C3	Silent	SNP	ENST00000223127.3	37	c.180G>A	CCDS5715.1																																																																																				0.607	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			7	30	0	0	0	0	7	30				
CFTR	1080	broad.mit.edu	37	7	117292972	117292972	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:117292972A>C	ENST00000003084.6	+	24	4082	c.3950A>C	c.(3949-3951)aAa>aCa	p.K1317T	CFTR_ENST00000454343.1_Missense_Mutation_p.K1256T	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1317	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GAAATATGGAAAGTTGCAGAT	0.338									Cystic Fibrosis																													uc003vjd.2		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)	5						c.(3949-3951)AAA>ACA		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						106.0	110.0	109.0					7																	117292972		2203	4300	6503	SO:0001583	missense	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117292972A>C	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3950A>C	7.37:g.117292972A>C	ENSP00000003084:p.Lys1317Thr					CFTR_uc011knq.1_Missense_Mutation_p.K723T	p.K1317T	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		24	4082	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		1317			Cytoplasmic (Potential).|ABC transporter 2.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.3950A>C	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447804	0.63178	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.94092	-3.35;-3.35;-3.35	5.13	5.13	0.70059	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.045277	0.85682	D	0.000000	D	0.91304	0.7258	N	0.20881	0.62	0.54753	D	0.999987	P	0.46578	0.88	P	0.51516	0.672	D	0.90890	0.4760	10	0.35671	T	0.21	-26.0078	14.891	0.70609	1.0:0.0:0.0:0.0	.	1317	P13569	CFTR_HUMAN	T	1317;1256;1287	ENSP00000003084:K1317T;ENSP00000403677:K1256T;ENSP00000389119:K1287T	ENSP00000003084:K1317T	K	+	2	0	CFTR	117080208	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.584000	0.60971	2.062000	0.61559	0.533000	0.62120	AAA		0.338	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		8	32	0	0	0	0	8	32				
HR	55806	broad.mit.edu	37	8	21986633	21986633	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr8:21986633C>T	ENST00000381418.4	-	2	1531	c.51G>A	c.(49-51)acG>acA	p.T17T	HR_ENST00000518377.1_5'Flank|HR_ENST00000312841.8_Silent_p.T17T	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	17					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TCTCTGGGGCCGTCTTCTCCC	0.652																																						uc003xas.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(49-51)ACG>ACA		hairless protein isoform a							88.0	92.0	91.0					8																	21986633		2203	4300	6503	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21986633C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.51G>A	8.37:g.21986633C>T						HR_uc003xat.2_Silent_p.T17T|HR_uc010lts.2_Silent_p.T17T	p.T17T	NM_005144	NP_005135	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	716	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	17					Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.51G>A	CCDS6022.1																																																																																				0.652	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			4	78	0	0	0	0	4	78				
ADRA1A	148	broad.mit.edu	37	8	26627932	26627932	+	Missense_Mutation	SNP	C	C	T	rs573286753	byFrequency	TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr8:26627932C>T	ENST00000519229.1	-	2	1141	c.1135G>A	c.(1135-1137)Gtg>Atg	p.V379M	ADRA1A_ENST00000380573.3_Missense_Mutation_p.V379M|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Missense_Mutation_p.V379M|ADRA1A_ENST00000380582.3_Missense_Mutation_p.V379M|ADRA1A_ENST00000276393.4_Missense_Mutation_p.V379M|ADRA1A_ENST00000354550.4_Missense_Mutation_p.V379M|ADRA1A_ENST00000380581.2_Intron			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	339					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CTTGATCCCACGGGGATGCGC	0.552																																						uc003xfh.1		NA																	0				breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(1135-1137)GTG>ATG		alpha-1A-adrenergic receptor isoform 1	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						136.0	129.0	132.0					8																	26627932		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26627932C>T	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.1135G>A	8.37:g.26627932C>T	ENSP00000430793:p.Val379Met					ADRA1A_uc003xfc.1_Missense_Mutation_p.V379M|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.V379M|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.V379M	p.V379M	NM_000680	NP_000671	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	2	1571	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	379			Cytoplasmic (By similarity).		Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.1135G>A		.	.	.	.	.	.	.	.	.	.	C	14.93	2.683076	0.47991	.	.	ENSG00000120907	ENST00000380586;ENST00000380582;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573	T;T;T;T;T;T	0.62941	0.03;0.06;0.04;-0.01;0.04;0.04	5.96	5.96	0.96718	.	0.436137	0.21650	N	0.071190	T	0.77961	0.4209	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.997;0.997;1.0;0.998	P;P;D;P	0.69479	0.683;0.724;0.964;0.747	T	0.75619	-0.3255	10	0.48119	T	0.1	.	20.0112	0.97449	0.0:1.0:0.0:0.0	.	379;379;379;379	P35348;P35348-4;P35348-3;B0ZBD3	ADA1A_HUMAN;.;.;.	M	379	ENSP00000369960:V379M;ENSP00000369956:V379M;ENSP00000430793:V379M;ENSP00000346557:V379M;ENSP00000276393:V379M;ENSP00000369947:V379M	ENSP00000276393:V379M	V	-	1	0	ADRA1A	26683849	0.979000	0.34478	0.965000	0.40720	0.053000	0.15095	2.531000	0.45650	2.826000	0.97356	0.655000	0.94253	GTG		0.552	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		23	78	0	0	0	0	23	78				
DCAF13	25879	broad.mit.edu	37	8	104453792	104453792	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr8:104453792C>G	ENST00000297579.5	+	10	1929	c.1652C>G	c.(1651-1653)tCt>tGt	p.S551C		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	399					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTACCAAAATCTATCTATAGC	0.393																																						uc003yln.2		NA																	0				breast(1)	1						c.(1651-1653)TCT>TGT		WD repeats and SOF1 domain containing							136.0	130.0	132.0					8																	104453792		2203	4300	6503	SO:0001583	missense	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104453792C>G	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1652C>G	8.37:g.104453792C>G	ENSP00000297579:p.Ser551Cys					DCAF13_uc003ylo.2_Missense_Mutation_p.S262C	p.S551C	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN			10	1929	+			399					Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	c.1652C>G	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755466	0.31046	.	.	ENSG00000164934	ENST00000297579	T	0.73469	-0.75	5.42	5.42	0.78866	.	0.430625	0.24445	N	0.038466	T	0.75932	0.3917	L	0.53249	1.67	0.80722	D	1	.	.	.	.	.	.	T	0.74463	-0.3657	8	0.39692	T	0.17	-19.8354	9.5675	0.39407	0.1484:0.6882:0.1635:0.0	.	.	.	.	C	551	ENSP00000297579:S551C	ENSP00000297579:S551C	S	+	2	0	DCAF13	104522968	0.001000	0.12720	0.977000	0.42913	0.988000	0.76386	1.130000	0.31393	2.521000	0.84997	0.563000	0.77884	TCT		0.393	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		26	112	0	0	0	0	26	112				
EMC2	9694	broad.mit.edu	37	8	109465334	109465334	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr8:109465334G>C	ENST00000220853.3	+	4	298	c.263G>C	c.(262-264)aGa>aCa	p.R88T		NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	88						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GGCAGTCACAGAGTCAAGCGA	0.398																																						uc003ymw.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(262-264)AGA>ACA		tetratricopeptide repeat domain 35							99.0	90.0	93.0					8																	109465334		2203	4300	6503	SO:0001583	missense	9694					endoplasmic reticulum|nucleus	binding	g.chr8:109465334G>C	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.263G>C	8.37:g.109465334G>C	ENSP00000220853:p.Arg88Thr						p.R88T	NM_014673	NP_055488	Q15006	TTC35_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)		4	298	+			88			TPR 1.		Q8WUE1	Missense_Mutation	SNP	ENST00000220853.3	37	c.263G>C	CCDS6309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.068398|5.068398	0.93950|0.93950	.|.	.|.	ENSG00000104412|ENSG00000104412	ENST00000519642|ENST00000524143;ENST00000220853	.|T;T	.|0.75821	.|2.22;-0.97	6.03|6.03	6.03|6.03	0.97812|0.97812	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89979|0.89979	0.6872|0.6872	M|M	0.91354|0.91354	3.2|3.2	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	D|D	0.90825|0.90825	0.4712|0.4712	5|10	.|0.72032	.|D	.|0.01	-12.1167|-12.1167	20.5666|20.5666	0.99351|0.99351	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|88	.|Q15006	.|TTC35_HUMAN	Q|T	36|89;88	.|ENSP00000430122:R89T;ENSP00000220853:R88T	.|ENSP00000220853:R88T	E|R	+|+	1|2	0|0	TTC35|TTC35	109534510|109534510	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.118000|9.118000	0.94355|0.94355	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.398	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		5	38	0	0	0	0	5	38				
CYC1	1537	broad.mit.edu	37	8	145150852	145150852	+	Silent	SNP	G	G	C	rs538272583		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr8:145150852G>C	ENST00000318911.4	+	2	319	c.246G>C	c.(244-246)gtG>gtC	p.V82V		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	82					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATTCGGCTGTGAGTGCCAGTG	0.662											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zaz.3		NA																	0					0						c.(244-246)GTG>GTC		cytochrome c-1							58.0	59.0	59.0					8																	145150852		2203	4300	6503	SO:0001819	synonymous_variant	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145150852G>C	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.246G>C	8.37:g.145150852G>C			OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1692	CYC1_uc003zay.2_Silent_p.V23V	p.V82V	NM_001916	NP_001907	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	289	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		82					Q5U062|Q6FHS7	Silent	SNP	ENST00000318911.4	37	c.246G>C	CCDS6415.1																																																																																				0.662	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		12	71	0	0	0	0	12	71				
TTC39B	158219	broad.mit.edu	37	9	15185309	15185309	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:15185309G>A	ENST00000512701.2	-	16	1619	c.1583C>T	c.(1582-1584)cCt>cTt	p.P528L	TTC39B_ENST00000355694.2_Missense_Mutation_p.P462L|TTC39B_ENST00000507285.1_Missense_Mutation_p.P363L|TTC39B_ENST00000297615.5_Missense_Mutation_p.P459L|TTC39B_ENST00000380850.4_Missense_Mutation_p.P515L|TTC39B_ENST00000507993.1_Missense_Mutation_p.P363L			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	528										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CACAGGTGCAGGTAAGGAGGC	0.473																																						uc003zlr.1		NA																	0				ovary(1)	1						c.(1384-1386)CCT>CTT		tetratricopeptide repeat domain 39B							105.0	103.0	104.0					9																	15185309		2203	4300	6503	SO:0001583	missense	158219						binding	g.chr9:15185309G>A	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1583C>T	9.37:g.15185309G>A	ENSP00000422496:p.Pro528Leu					TTC39B_uc003zlq.1_Missense_Mutation_p.P431L|TTC39B_uc011lmp.1_Missense_Mutation_p.P363L|TTC39B_uc010mie.1_Missense_Mutation_p.P460L|TTC39B_uc011lmq.1_Missense_Mutation_p.P449L|TTC39B_uc011lmr.1_Missense_Mutation_p.P393L|TTC39B_uc003zlp.1_Missense_Mutation_p.P45L	p.P462L	NM_152574	NP_689787	Q5VTQ0	TT39B_HUMAN			16	1506	-			462					A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	c.1385C>T	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	G	13.86	2.361965	0.41801	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.85	2.96	0.34315	.	0.450652	0.23305	N	0.049636	T	0.26810	0.0656	L	0.27053	0.805	0.19300	N	0.999973	B;B;B;B;B	0.24317	0.034;0.042;0.042;0.042;0.101	B;B;B;B;B	0.28916	0.022;0.061;0.061;0.061;0.096	T	0.14615	-1.0466	10	0.40728	T	0.16	-3.9413	4.3449	0.11127	0.136:0.1271:0.6127:0.1243	.	459;515;460;462;45	F5H705;E9PAQ9;A5PLN1;Q5VTQ0;Q8IXZ6	.;.;.;TT39B_HUMAN;.	L	515;459;462;528;363;363	ENSP00000370231:P515L;ENSP00000297615:P459L;ENSP00000347920:P462L;ENSP00000422496:P528L;ENSP00000426539:P363L;ENSP00000423392:P363L	ENSP00000297615:P459L	P	-	2	0	TTC39B	15175309	0.483000	0.25956	0.012000	0.15200	0.441000	0.31987	2.945000	0.49043	0.794000	0.33899	0.563000	0.77884	CCT		0.473	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		43	102	0	0	0	0	43	102				
FOCAD	54914	broad.mit.edu	37	9	20981679	20981679	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:20981679G>C	ENST00000380249.1	+	40	4996	c.4632G>C	c.(4630-4632)aaG>aaC	p.K1544N	FOCAD_ENST00000605086.1_Missense_Mutation_p.K980N|FOCAD_ENST00000338382.6_Missense_Mutation_p.K1544N	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1544						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TGCCAAATAAGATTCGGGTGA	0.448																																						uc003zog.1		NA																	0				ovary(8)|breast(1)|kidney(1)	10						c.(4630-4632)AAG>AAC		hypothetical protein LOC54914							42.0	45.0	44.0					9																	20981679		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20981679G>C	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4632G>C	9.37:g.20981679G>C	ENSP00000369599:p.Lys1544Asn					KIAA1797_uc003zoh.1_Missense_Mutation_p.K980N	p.K1544N	NM_017794	NP_060264	Q5VW36	K1797_HUMAN		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	40	4995	+			1544					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.4632G>C	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483217	0.44147	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.21734	1.99;1.99	5.95	5.95	0.96441	.	0.278938	0.40144	N	0.001173	T	0.29126	0.0724	M	0.63428	1.95	0.41025	D	0.985116	P	0.36354	0.549	B	0.41036	0.346	T	0.01360	-1.1375	10	0.33940	T	0.23	-0.8478	15.5245	0.75890	0.0675:0.0:0.9325:0.0	.	1544	Q5VW36	K1797_HUMAN	N	1544	ENSP00000369599:K1544N;ENSP00000344307:K1544N	ENSP00000344307:K1544N	K	+	3	2	KIAA1797	20971679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.759000	0.47573	2.827000	0.97445	0.650000	0.86243	AAG		0.448	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		5	48	0	0	0	0	5	48				
ABCA1	19	broad.mit.edu	37	9	107564419	107564419	+	Silent	SNP	A	A	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:107564419A>C	ENST00000374736.3	-	34	5008	c.4614T>G	c.(4612-4614)ggT>ggG	p.G1538G		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1538					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TATTACTGACACCCAGGGAAA	0.448																																						uc004bcl.2		NA																	0				large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(4612-4614)GGT>GGG		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						82.0	80.0	81.0					9																	107564419		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107564419A>C	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4614T>G	9.37:g.107564419A>C							p.G1538G	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	34	4927	-			1538			Extracellular.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.4614T>G	CCDS6762.1																																																																																				0.448	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		8	35	0	0	0	0	8	35				
COL27A1	85301	broad.mit.edu	37	9	116930511	116930511	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:116930511C>T	ENST00000356083.3	+	3	1067	c.676C>T	c.(676-678)Cac>Tac	p.H226Y		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	226	Laminin G-like.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCAGGTCGCTCACAATTACTG	0.557																																						uc011lxl.1		NA																	0				ovary(3)|skin(1)	4						c.(676-678)CAC>TAC		collagen, type XXVII, alpha 1 precursor							89.0	82.0	84.0					9																	116930511		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116930511C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.676C>T	9.37:g.116930511C>T	ENSP00000348385:p.His226Tyr					COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.H76Y	p.H226Y	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			3	676	+			226			Laminin G-like.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.676C>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377992	0.42105	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	T;T	0.02103	4.45;4.45	4.84	3.94	0.45596	Concanavalin A-like lectin/glucanase (1);	.	.	.	.	T	0.04952	0.0133	L	0.59436	1.845	0.42739	D	0.993731	P;D	0.55385	0.576;0.971	B;P	0.49012	0.188;0.598	T	0.45145	-0.9281	9	0.45353	T	0.12	.	10.697	0.45905	0.0:0.9059:0.0:0.0941	.	226;173	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	Y	226;226;173;173	ENSP00000348385:H226Y;ENSP00000391328:H173Y	ENSP00000348385:H226Y	H	+	1	0	COL27A1	115970332	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	4.006000	0.57083	1.021000	0.39600	0.555000	0.69702	CAC		0.557	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		24	64	0	0	0	0	24	64				
COL5A1	1289	broad.mit.edu	37	9	137620520	137620520	+	Missense_Mutation	SNP	C	C	T	rs148548209		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:137620520C>T	ENST00000371817.3	+	6	1205	c.791C>T	c.(790-792)aCg>aTg	p.T264M		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	264	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTCAGTACACGGAAGGAGAC	0.612																																						uc004cfe.2		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(790-792)ACG>ATG		alpha 1 type V collagen preproprotein		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	116.0	121.0	120.0		791	3.9	1.0	9	dbSNP_134	120	0,8600		0,0,4300	no	missense	COL5A1	NM_000093.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	264/1839	137620520	1,13005	2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137620520C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.791C>T	9.37:g.137620520C>T	ENSP00000360882:p.Thr264Met						p.T264M	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	6	1173	+		Myeloproliferative disorder(178;0.0341)	264			Nonhelical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.791C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.403179	0.42613	2.27E-4	0.0	ENSG00000130635	ENST00000371817	D	0.89875	-2.58	3.93	3.93	0.45458	.	0.890707	0.09636	U	0.775651	D	0.83166	0.5195	N	0.22421	0.69	0.80722	D	1	P	0.41265	0.744	B	0.36766	0.232	T	0.81127	-0.1074	10	0.59425	D	0.04	.	15.9158	0.79517	0.0:1.0:0.0:0.0	.	264	P20908	CO5A1_HUMAN	M	264	ENSP00000360882:T264M	ENSP00000360882:T264M	T	+	2	0	COL5A1	136760341	0.990000	0.36364	0.994000	0.49952	0.316000	0.28119	6.107000	0.71517	1.724000	0.51502	0.462000	0.41574	ACG		0.612	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		46	173	0	0	0	0	46	173				
COL5A1	1289	broad.mit.edu	37	9	137716559	137716559	+	Silent	SNP	C	C	T	rs542783734		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:137716559C>T	ENST00000371817.3	+	62	5226	c.4812C>T	c.(4810-4812)taC>taT	p.Y1604Y		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1604	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACGTGGACTACGCGGACGGCA	0.622																																						uc004cfe.2		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(4810-4812)TAC>TAT		alpha 1 type V collagen preproprotein							87.0	73.0	78.0					9																	137716559		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137716559C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4812C>T	9.37:g.137716559C>T						uc004cff.2_Intron	p.Y1604Y	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	62	5194	+		Myeloproliferative disorder(178;0.0341)	1604			Nonhelical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.4812C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	0.592	-0.832610	0.02713	.	.	ENSG00000130635	ENST00000371820	.	.	.	4.34	-6.69	0.01772	.	.	.	.	.	T	0.62196	0.2408	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65245	-0.6215	4	.	.	.	.	14.9859	0.71348	0.0:0.2819:0.0:0.7181	.	.	.	.	C	24	.	.	R	+	1	0	COL5A1	136856380	0.032000	0.19561	0.522000	0.27862	0.048000	0.14542	-0.776000	0.04674	-1.425000	0.01997	-2.497000	0.00192	CGC		0.622	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		12	29	0	0	0	0	12	29				
CDKL5	6792	broad.mit.edu	37	X	18668577	18668577	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:18668577G>A	ENST00000379989.3	+	21	3130	c.2845G>A	c.(2845-2847)Gtc>Atc	p.V949I	CDKL5_ENST00000379996.3_Missense_Mutation_p.V949I|RS1_ENST00000476595.1_5'UTR|RS1_ENST00000379984.3_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	949					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CACTCCGTGCGTCCCAAACCG	0.582																																						uc004cym.2		NA																	0				ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6						c.(2845-2847)GTC>ATC		cyclin-dependent kinase-like 5							159.0	114.0	129.0					X																	18668577		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18668577G>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2845G>A	X.37:g.18668577G>A	ENSP00000369325:p.Val949Ile					CDKL5_uc004cyn.2_Missense_Mutation_p.V949I|RS1_uc004cyo.2_Intron	p.V949I	NM_003159	NP_003150	O76039	CDKL5_HUMAN			20	3098	+	Hepatocellular(33;0.183)		949					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2845G>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	9.022	0.985033	0.18889	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.70516	-0.49;-0.49	3.46	-6.62	0.01813	.	4.064310	0.00754	N	0.001094	T	0.46308	0.1386	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49995	-0.8879	10	0.87932	D	0	.	8.3354	0.32211	0.7013:0.0:0.1726:0.1261	.	949	O76039	CDKL5_HUMAN	I	949	ENSP00000369332:V949I;ENSP00000369325:V949I	ENSP00000369325:V949I	V	+	1	0	CDKL5	18578498	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.954000	0.03873	-2.257000	0.00695	-0.380000	0.06706	GTC		0.582	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		23	59	0	0	0	0	23	59				
PJA1	64219	broad.mit.edu	37	X	68381831	68381831	+	Silent	SNP	A	A	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:68381831A>C	ENST00000361478.1	-	2	1628	c.1251T>G	c.(1249-1251)ccT>ccG	p.P417P	PJA1_ENST00000374571.4_Silent_p.P362P|PJA1_ENST00000374584.3_Silent_p.P229P|PJA1_ENST00000477231.1_5'Flank|PJA1_ENST00000374583.1_Silent_p.P417P	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	417					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CACCGGGGCCAGGGCTGGTGC	0.622																																						uc004dxh.2		NA																	0					0						c.(1249-1251)CCT>CCG		praja 1 isoform a							27.0	31.0	30.0					X																	68381831		2199	4281	6480	SO:0001819	synonymous_variant	64219						zinc ion binding	g.chrX:68381831A>C	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1251T>G	X.37:g.68381831A>C						PJA1_uc011mpi.1_Silent_p.P135P|PJA1_uc004dxg.2_Silent_p.P229P|PJA1_uc004dxi.2_Silent_p.P362P	p.P417P	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN			2	1537	-			417					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Silent	SNP	ENST00000361478.1	37	c.1251T>G	CCDS14393.1																																																																																				0.622	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		8	55	0	0	0	0	8	55				
ARL13A	392509	broad.mit.edu	37	X	100240775	100240775	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:100240775A>T	ENST00000450049.2	+	4	363	c.250A>T	c.(250-252)Aac>Tac	p.N84Y		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	84					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|ovary(1)	2						AGCATGGCCAAACTACTATGC	0.468																																						uc004ego.2		NA																	0				ovary(1)	1						c.(250-252)AAC>TAC		ADP-ribosylation factor-like 13 isoform a							107.0	99.0	101.0					X																	100240775		1935	4123	6058	SO:0001583	missense	392509						GTP binding	g.chrX:100240775A>T		CCDS55463.1	Xq22.1	2014-05-09	2005-11-18	2005-11-18	ENSG00000174225	ENSG00000174225		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	31709	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 13"""	ARL13			Standard	NM_001162491		Approved		uc011mrf.2	Q5H913	OTTHUMG00000022013	ENST00000450049.2:c.250A>T	X.37:g.100240775A>T	ENSP00000398637:p.Asn84Tyr					ARL13A_uc011mrf.1_Missense_Mutation_p.N84Y|ARL13A_uc010nng.2_Missense_Mutation_p.N84Y	p.N84Y	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN			4	366	+			84					B2RTT6|B4DX50	Missense_Mutation	SNP	ENST00000450049.2	37	c.250A>T	CCDS55463.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.835316	0.32421	.	.	ENSG00000174225	ENST00000450049	T	0.64803	-0.12	4.44	4.44	0.53790	.	0.396521	0.31102	N	0.008243	T	0.65450	0.2692	M	0.74881	2.28	0.23581	N	0.997365	B;P	0.38395	0.425;0.629	B;B	0.44044	0.243;0.439	T	0.63256	-0.6678	10	0.62326	D	0.03	.	9.0893	0.36601	1.0:0.0:0.0:0.0	.	84;84	B2RTT6;Q5H913	.;AR13A_HUMAN	Y	84	ENSP00000398637:N84Y	ENSP00000398637:N84Y	N	+	1	0	ARL13A	100127431	0.975000	0.34042	0.975000	0.42487	0.254000	0.26022	2.993000	0.49425	1.968000	0.57251	0.481000	0.45027	AAC		0.468	ARL13A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000057504.2	XM_373358		15	23	0	0	0	0	15	23				
IRS4	8471	broad.mit.edu	37	X	107979062	107979062	+	Silent	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:107979062G>A	ENST00000372129.2	-	1	589	c.513C>T	c.(511-513)ttC>ttT	p.F171F	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	171	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CGTCTTGGGTGAAAAGAGCAA	0.597																																						uc004eoc.2		NA																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(511-513)TTC>TTT		insulin receptor substrate 4							74.0	60.0	65.0					X																	107979062		2203	4300	6503	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979062G>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.513C>T	X.37:g.107979062G>A							p.F171F	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	546	-			171			PH.			Silent	SNP	ENST00000372129.2	37	c.513C>T	CCDS14544.1																																																																																				0.597	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		7	55	0	0	0	0	7	55				
DOCK11	139818	broad.mit.edu	37	X	117775197	117775197	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:117775197G>T	ENST00000276202.7	+	39	4252	c.4189G>T	c.(4189-4191)Gaa>Taa	p.E1397*	DOCK11_ENST00000276204.6_Nonsense_Mutation_p.E1397*	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1397					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GGCACTTCTTGAAGGCAATAC	0.368																																						uc004eqp.2		NA																	0				ovary(3)	3						c.(4189-4191)GAA>TAA		dedicator of cytokinesis 11							116.0	95.0	102.0					X																	117775197		2203	4300	6503	SO:0001587	stop_gained	139818				blood coagulation	cytosol	GTP binding	g.chrX:117775197G>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4189G>T	X.37:g.117775197G>T	ENSP00000276202:p.Glu1397*					DOCK11_uc004eqq.2_Nonsense_Mutation_p.E1176*	p.E1397*	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			39	4252	+			1397					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Nonsense_Mutation	SNP	ENST00000276202.7	37	c.4189G>T	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	44	10.985109	0.99499	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	.	.	.	5.4	4.54	0.55810	.	0.046704	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-4.8886	13.4443	0.61131	0.0776:0.0:0.9224:0.0	.	.	.	.	X	1397	.	ENSP00000276202:E1397X	E	+	1	0	DOCK11	117659225	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	9.195000	0.94971	1.186000	0.42985	0.526000	0.51066	GAA		0.368	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		20	62	1	0	1.18e-14	1.35e-14	20	62				
ZCCHC12	170261	broad.mit.edu	37	X	117959641	117959641	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:117959641C>T	ENST00000310164.2	+	4	941	c.434C>T	c.(433-435)gCc>gTc	p.A145V		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	145					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ggggagaaagcctccctttat	0.483																																						uc004equ.2		NA																	0				ovary(1)	1						c.(433-435)GCC>GTC		zinc finger, CCHC domain containing 12							129.0	129.0	129.0					X																	117959641		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959641C>T	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.434C>T	X.37:g.117959641C>T	ENSP00000308921:p.Ala145Val						p.A145V	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN			4	907	+			145					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.434C>T	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	C	1.692	-0.503741	0.04261	.	.	ENSG00000174460	ENST00000310164	T	0.05855	3.38	3.09	3.09	0.35607	.	0.715477	0.11526	N	0.555160	T	0.04952	0.0133	L	0.33093	0.98	0.20563	N	0.999885	B	0.26809	0.16	B	0.29942	0.109	T	0.38693	-0.9649	10	0.02654	T	1	-1.6804	8.7855	0.34818	0.0:1.0:0.0:0.0	.	145	Q6PEW1	ZCH12_HUMAN	V	145	ENSP00000308921:A145V	ENSP00000308921:A145V	A	+	2	0	ZCCHC12	117843669	0.926000	0.31397	0.992000	0.48379	0.955000	0.61496	0.992000	0.29667	1.801000	0.52704	0.594000	0.82650	GCC		0.483	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		35	110	0	0	0	0	35	110				
RABGGTB	5876	broad.mit.edu	37	1	76255009	76255009	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:76255009delC	ENST00000319942.3	+	3	348	c.277delC	c.(277-279)cctfs	p.P93fs	SNORD45B_ENST00000364617.1_RNA|RABGGTB_ENST00000496055.1_3'UTR|SNORD45C_ENST00000383893.1_RNA|SNORD45A_ENST00000384512.1_RNA|RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000370826.3_Frame_Shift_Del_p.P93fs	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	93					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						CGGACATGATCCTCATCTTTT	0.368																																						uc001dgy.1		NA																	0				ovary(1)	1						c.(277-279)CCTfs		RAB geranylgeranyltransferase, beta subunit							131.0	117.0	122.0					1																	76255009		2203	4300	6503	SO:0001589	frameshift_variant	5876				protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity	g.chr1:76255009delC	U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.277delC	1.37:g.76255009delC	ENSP00000317473:p.Pro93fs					RABGGTB_uc009wbt.1_RNA|RABGGTB_uc001dha.1_Frame_Shift_Del_p.P47fs|SNORD45B_uc009wbv.1_5'Flank	p.P93fs	NM_004582	NP_004573	P53611	PGTB2_HUMAN			3	348	+			93			PFTB 2.		Q92697	Frame_Shift_Del	DEL	ENST00000319942.3	37	c.277delC	CCDS669.1																																																																																				0.368	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1	NM_004582		21	78	NA	NA	NA	NA	21	78	---	---	---	---
WHSC1	7468	broad.mit.edu	37	4	1957868	1957869	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:1957868_1957869insC	ENST00000382895.3	+	17	3265_3266	c.2834_2835insC	c.(2833-2838)ggcagcfs	p.S946fs	WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.S946fs|WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.S946fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.S946fs|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.S294fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	946					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGGACCGGGGCAGCCGCTACC	0.51			T	IGH@	MM																																	uc003gdz.3		NA		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(2833-2835)GGCfs		Wolf-Hirschhorn syndrome candidate 1 protein																																				SO:0001589	frameshift_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1957868_1957869insC	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2835dupC	4.37:g.1957869_1957869dupC	ENSP00000372351:p.Ser946fs					WHSC1_uc003geb.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003gec.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003ged.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Frame_Shift_Ins_p.G164fs|WHSC1_uc011bvh.1_Frame_Shift_Ins_p.G6fs|WHSC1_uc010icf.2_Frame_Shift_Ins_p.G293fs	p.G945fs	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	15	3010_3011	+		all_epithelial(65;1.34e-05)	945					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Frame_Shift_Ins	INS	ENST00000382895.3	37	c.2834_2835insC	CCDS33940.1																																																																																				0.510	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		20	177	NA	NA	NA	NA	20	177	---	---	---	---
SEMA4D	10507	broad.mit.edu	37	9	91978793	91978793	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:91978793delT	ENST00000420987.1	-	18	2401	c.1955delA	c.(1954-1956)catfs	p.H652fs	SEMA4D_ENST00000455551.2_Frame_Shift_Del_p.H652fs|SEMA4D_ENST00000420101.2_Frame_Shift_Del_p.H37fs|SEMA4D_ENST00000339861.4_Frame_Shift_Del_p.H652fs|SEMA4D_ENST00000343780.4_Frame_Shift_Del_p.H652fs|SEMA4D_ENST00000469653.1_5'UTR	NM_001142287.1	NP_001135759.1	Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	0					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GGGCAGTGCATGGGTCTGCAC	0.607																																						uc011ltm.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1954-1956)CATfs		semaphorin 4D isoform 2							91.0	81.0	84.0					9																	91978793		2203	4300	6503	SO:0001589	frameshift_variant	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:91978793delT	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000420987.1:c.1955delA	9.37:g.91978793delT	ENSP00000391733:p.His652fs					SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aql.2_RNA|SEMA4D_uc004aqm.2_RNA	p.H652fs	NM_001142287	NP_001135759	Q92854	SEM4D_HUMAN			19	2527	-			Error:Variant_position_missing_in_Q92854_after_alignment					B2RPM6|Q7Z5S4|Q8N8B0	Frame_Shift_Del	DEL	ENST00000420987.1	37	c.1955delA	CCDS47991.1																																																																																				0.607	SEMA4D-203	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402418.2	NM_006378		8	79	NA	NA	NA	NA	8	79	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139409935	139409936	+	Splice_Site	INS	-	-	TG			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:139409935_139409936insTG	ENST00000277541.6	-	11	1977_1978	c.1902_1903insCA	c.(1900-1905)acagga>acaCAgga	p.G635fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	635	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCGGCCACCTGTGGTCCCCT	0.698			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(1900-1905)ACAGGAfs		notch1 preproprotein																																				SO:0001630	splice_region_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139409935_139409936insTG	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1903+1->CA	9.37:g.139409938_139409939dupTG		HNSCC(8;0.001)				NOTCH1_uc004cia.1_5'Flank	p.T634fs	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	11	1902_1903	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	634_635			Extracellular (Potential).|EGF-like 16; calcium-binding (Potential).		Q59ED8|Q5SXM3	Frame_Shift_Ins	INS	ENST00000277541.6	37	c.1902_1903insCA	CCDS43905.1																																																																																				0.698	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617	Frame_Shift_Ins	14	41	NA	NA	NA	NA	14	41	---	---	---	---
