#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	11186691	11186691	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:11186691A>T	ENST00000361445.4	-	46	6590	c.6514T>A	c.(6514-6516)Ttg>Atg	p.L2172M	MTOR_ENST00000376838.1_Missense_Mutation_p.L377M	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2172					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)	ATAAGTGTCAATTTCCGGGGC	0.512																																						uc001asd.2		NA																	0				central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(6514-6516)TTG>ATG		FK506 binding protein 12-rapamycin associated							155.0	135.0	142.0					1																	11186691		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.chr1:11186691A>T	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.6514T>A	1.37:g.11186691A>T	ENSP00000354558:p.Leu2172Met					MTOR_uc001asc.2_Missense_Mutation_p.L377M	p.L2172M	NM_004958	NP_004949	P42345	MTOR_HUMAN			46	6635	-			2172					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.6514T>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.625670	0.66901	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	D;D	0.83837	-1.77;-1.77	5.26	-1.32	0.09201	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	D	0.88463	0.6443	M	0.77616	2.38	0.53688	D	0.999974	D	0.76494	0.999	D	0.73708	0.981	D	0.85961	0.1470	10	0.35671	T	0.21	-19.307	13.1128	0.59283	0.4837:0.0:0.5163:0.0	.	2172	P42345	MTOR_HUMAN	M	2172;377	ENSP00000354558:L2172M;ENSP00000366034:L377M	ENSP00000354558:L2172M	L	-	1	2	MTOR	11109278	0.140000	0.22579	0.994000	0.49952	0.993000	0.82548	-0.031000	0.12287	-0.191000	0.10448	0.533000	0.62120	TTG		0.512	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		20	29	0	0	0	0	20	29				
Unknown	0	broad.mit.edu	37	1	13183335	13183335	+	IGR	SNP	G	G	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:13183335G>T								RP13-221M14.3 (18867 upstream) : PRAMEF26 (33020 downstream)																							ATGGCCTGAAGGTCATCTCCT	0.453																																						uc010obg.1		NA																	0					0						c.(538-540)CTT>ATT		heterogeneous nuclear ribonucleoprotein C-like							89.0	63.0	71.0					1																	13183335		692	1591	2283	SO:0001628	intergenic_variant	440563					ribonucleoprotein complex	nucleic acid binding|nucleotide binding	g.chr1:13183335G>T																													1.37:g.13183335G>T							p.L180I	NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN			1	633	-			180						Missense_Mutation	SNP		37	c.538C>A																																																																																				0	0.453									88	403	1	0	4.78e-37	5.58e-37	88	403				
EPHB2	2048	broad.mit.edu	37	1	23235659	23235659	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:23235659C>T	ENST00000400191.3	+	13	2515	c.2497C>T	c.(2497-2499)Cag>Tag	p.Q833*	EPHB2_ENST00000374630.3_Nonsense_Mutation_p.Q833*|EPHB2_ENST00000374627.1_Nonsense_Mutation_p.Q828*|EPHB2_ENST00000374632.3_Nonsense_Mutation_p.Q834*	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	833	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CATGACCAACCAGGATGTAAG	0.592																																						uc009vqj.1		NA																	0				ovary(3)|lung(1)|pancreas(1)	5						c.(2497-2499)CAG>TAG		ephrin receptor EphB2 isoform 1 precursor							104.0	93.0	97.0					1																	23235659		2203	4300	6503	SO:0001587	stop_gained	2048	Hereditary_Prostate_Cancer			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23235659C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2497C>T	1.37:g.23235659C>T	ENSP00000383053:p.Gln833*					EPHB2_uc001bge.2_Nonsense_Mutation_p.Q834*|EPHB2_uc001bgf.2_Nonsense_Mutation_p.Q833*|EPHB2_uc010odu.1_Nonsense_Mutation_p.Q775*	p.Q833*	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	13	2642	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	833			Cytoplasmic (Potential).|Protein kinase.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Nonsense_Mutation	SNP	ENST00000400191.3	37	c.2497C>T		.	.	.	.	.	.	.	.	.	.	C	39	7.492926	0.98319	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.3025	0.87186	0.0:1.0:0.0:0.0	.	.	.	.	X	775;833;833;834;828	.	ENSP00000363755:Q775X	Q	+	1	0	EPHB2	23108246	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.840000	0.69402	2.665000	0.90641	0.650000	0.86243	CAG		0.592	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		15	37	0	0	0	0	15	37				
ELAVL4	1996	broad.mit.edu	37	1	50642774	50642774	+	Silent	SNP	G	G	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:50642774G>T	ENST00000371823.4	+	3	488	c.264G>T	c.(262-264)ggG>ggT	p.G88G	ELAVL4_ENST00000371827.1_Silent_p.G88G|ELAVL4_ENST00000448907.2_Silent_p.G91G|ELAVL4_ENST00000371824.1_Silent_p.G88G|ELAVL4_ENST00000371821.1_Silent_p.G93G|RP11-567C20.2_ENST00000442477.1_RNA|ELAVL4_ENST00000357083.4_Silent_p.G105G|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371819.1_Silent_p.G93G	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	88	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						AGAGTTTAGGGTATGGATTTG	0.403																																						uc001csb.2		NA																	0				ovary(1)|pancreas(1)	2						c.(262-264)GGG>GGT		ELAV-like 4 isoform 1							83.0	79.0	80.0					1																	50642774		2203	4300	6503	SO:0001819	synonymous_variant	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50642774G>T	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.264G>T	1.37:g.50642774G>T						ELAVL4_uc001cry.3_Silent_p.G91G|ELAVL4_uc001crz.3_Silent_p.G88G|ELAVL4_uc001csa.3_Silent_p.G105G|ELAVL4_uc001csc.3_Silent_p.G88G|ELAVL4_uc009vyu.2_Silent_p.G93G|ELAVL4_uc010omz.1_Silent_p.G93G	p.G88G	NM_021952	NP_068771	P26378	ELAV4_HUMAN			3	532	+			88			RRM 1.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Silent	SNP	ENST00000371823.4	37	c.264G>T	CCDS553.1																																																																																				0.403	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		16	29	1	0	6.32e-08	6.89e-08	16	29				
DOCK7	85440	broad.mit.edu	37	1	63005526	63005526	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:63005526T>A	ENST00000340370.5	-	25	3007	c.2990A>T	c.(2989-2991)aAa>aTa	p.K997I	DOCK7_ENST00000251157.5_Missense_Mutation_p.K1028I	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1028					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGCCTCAAGTTTATCATTAAA	0.328																																						uc001daq.2		NA																	0				ovary(2)	2						c.(3082-3084)AAA>ATA		dedicator of cytokinesis 7							56.0	55.0	55.0					1																	63005526		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63005526T>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.2990A>T	1.37:g.63005526T>A	ENSP00000340742:p.Lys997Ile					DOCK7_uc001dan.2_Missense_Mutation_p.K889I|DOCK7_uc001dao.2_Missense_Mutation_p.K889I|DOCK7_uc001dap.2_Missense_Mutation_p.K997I|DOCK7_uc001dam.2_Missense_Mutation_p.K208I	p.K1028I	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			26	3117	-			1028					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.3083A>T	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.5|20.5	3.997760|3.997760	0.74818|0.74818	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370|ENST00000454575	T;T|.	0.26223|.	1.75;1.75|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.053536|.	0.64402|.	D|.	0.000001|.	T|.	0.75693|.	0.3884|.	M|M	0.77820|0.77820	2.39|2.39	0.51012|0.51012	D|D	0.999901|0.999901	P;P;P;P;B|.	0.47962|.	0.659;0.699;0.699;0.903;0.186|.	P;P;P;P;B|.	0.59424|.	0.5;0.694;0.776;0.857;0.361|.	T|.	0.76966|.	-0.2763|.	10|.	0.62326|.	D|.	0.03|.	.|.	15.5098|15.5098	0.75772|0.75772	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1028;997;997;997;1028|.	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6|.	.;.;.;.;.|.	I|Y	1028;1028;997|199	ENSP00000251157:K1028I;ENSP00000340742:K997I|.	ENSP00000251157:K1028I|.	K|X	-|-	2|3	0|2	DOCK7|DOCK7	62778114|62778114	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.555000|5.555000	0.67301|0.67301	2.304000|2.304000	0.77564|0.77564	0.528000|0.528000	0.53228|0.53228	AAA|TAA		0.328	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		10	17	0	0	0	0	10	17				
GBP1	2633	broad.mit.edu	37	1	89521862	89521862	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:89521862G>A	ENST00000370473.4	-	8	1424	c.1205C>T	c.(1204-1206)gCa>gTa	p.A402V	GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	402					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		ATCTGATGATGCTTCCTGATT	0.413																																						uc001dmx.2		NA																	0				ovary(1)|skin(1)	2						c.(1204-1206)GCA>GTA		guanylate binding protein 1,							110.0	114.0	112.0					1																	89521862		2203	4300	6503	SO:0001583	missense	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89521862G>A	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1205C>T	1.37:g.89521862G>A	ENSP00000359504:p.Ala402Val						p.A402V	NM_002053	NP_002044	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	8	1425	-		Lung NSC(277;0.123)	402					D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	c.1205C>T	CCDS718.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746487	0.30955	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.58210	0.35	4.8	-3.07	0.05363	Guanylate-binding protein, C-terminal (3);	0.405734	0.25506	N	0.030206	T	0.19366	0.0465	L	0.52905	1.665	0.09310	N	1	B	0.26876	0.162	B	0.26693	0.072	T	0.15636	-1.0430	10	0.45353	T	0.12	.	3.6745	0.08287	0.3085:0.0:0.3274:0.364	.	402	P32455	GBP1_HUMAN	V	402;365	ENSP00000359504:A402V	ENSP00000359504:A402V	A	-	2	0	GBP1	89294450	0.000000	0.05858	0.066000	0.19879	0.071000	0.16799	-0.317000	0.08060	-0.091000	0.12440	0.491000	0.48974	GCA		0.413	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		48	98	0	0	0	0	48	98				
SV2A	9900	broad.mit.edu	37	1	149880767	149880767	+	Silent	SNP	A	A	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:149880767A>T	ENST00000369146.3	-	8	1846	c.1356T>A	c.(1354-1356)ggT>ggA	p.G452G	SV2A_ENST00000369145.1_Silent_p.G452G	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	452					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGAACCACACACCCATCATCA	0.532																																						uc001etg.2		NA																	0				ovary(6)|pancreas(1)	7						c.(1354-1356)GGT>GGA		synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)						530.0	423.0	459.0					1																	149880767		2203	4300	6503	SO:0001819	synonymous_variant	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149880767A>T	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1356T>A	1.37:g.149880767A>T						SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Silent_p.G452G	p.G452G	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		8	1847	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		452			Helical; (Potential).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	c.1356T>A	CCDS940.1																																																																																				0.532	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			29	41	0	0	0	0	29	41				
COPA	1314	broad.mit.edu	37	1	160267363	160267363	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:160267363C>T	ENST00000241704.7	-	20	2379	c.2150G>A	c.(2149-2151)cGc>cAc	p.R717H	COPA_ENST00000368069.3_Missense_Mutation_p.R726H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	717					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCATCTTGCGAAGTTTTTC	0.438																																						uc009wti.2		NA																	0				ovary(1)|skin(1)	2						c.(2149-2151)CGC>CAC		coatomer protein complex, subunit alpha isoform							105.0	100.0	102.0					1																	160267363		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160267363C>T	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2150G>A	1.37:g.160267363C>T	ENSP00000241704:p.Arg717His					COPA_uc001fvv.3_Missense_Mutation_p.R726H	p.R717H	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		20	2544	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		717					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.2150G>A	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369210	0.95900	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.62364	0.08;0.03	5.68	5.68	0.88126	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	T	0.77226	0.4099	M	0.84846	2.72	0.80722	D	1	D;D	0.71674	0.984;0.998	P;P	0.62491	0.903;0.895	T	0.78816	-0.2055	10	0.56958	D	0.05	-13.4729	18.7245	0.91710	0.0:1.0:0.0:0.0	.	717;726	P53621;P53621-2	COPA_HUMAN;.	H	726;717	ENSP00000357048:R726H;ENSP00000241704:R717H	ENSP00000241704:R717H	R	-	2	0	COPA	158533987	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.578000	0.82498	2.835000	0.97688	0.650000	0.86243	CGC		0.438	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		26	66	0	0	0	0	26	66				
PTPRC	5788	broad.mit.edu	37	1	198713186	198713186	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:198713186C>T	ENST00000367376.2	+	26	2866	c.2695C>T	c.(2695-2697)Cag>Tag	p.Q899*	PTPRC_ENST00000352140.3_Nonsense_Mutation_p.Q851*|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.Q901*|PTPRC_ENST00000348564.6_Nonsense_Mutation_p.Q740*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.Q738*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	899	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATTGTAGGCCCAGTACATCTT	0.328																																						uc001gur.1		NA																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(2695-2697)CAG>TAG		protein tyrosine phosphatase, receptor type, C							112.0	108.0	109.0					1																	198713186		2202	4300	6502	SO:0001587	stop_gained	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198713186C>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2695C>T	1.37:g.198713186C>T	ENSP00000356346:p.Gln899*					PTPRC_uc001gus.1_Nonsense_Mutation_p.Q851*|PTPRC_uc001gut.1_Nonsense_Mutation_p.Q738*	p.Q899*	NM_002838	NP_002829	P08575	PTPRC_HUMAN			26	2875	+			899			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Nonsense_Mutation	SNP	ENST00000367376.2	37	c.2695C>T		.	.	.	.	.	.	.	.	.	.	C	40	8.014223	0.98610	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	.	.	.	5.8	5.8	0.92144	.	0.000000	0.47455	D	0.000225	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.053	0.97634	0.0:1.0:0.0:0.0	.	.	.	.	X	901;851;899;738	.	ENSP00000306782:Q738X	Q	+	1	0	PTPRC	196979809	1.000000	0.71417	0.999000	0.59377	0.861000	0.49209	7.440000	0.80464	2.733000	0.93635	0.650000	0.86243	CAG		0.328	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				6	25	0	0	0	0	6	25				
KLHL12	59349	broad.mit.edu	37	1	202887508	202887508	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:202887508G>T	ENST00000367261.3	-	4	576	c.358C>A	c.(358-360)Caa>Aaa	p.Q120K	KLHL12_ENST00000435533.3_Missense_Mutation_p.Q158K	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	120					COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGCAGGCTTGTTTCACACCT	0.428																																						uc001gyo.1		NA																	0					0						c.(358-360)CAA>AAA		kelch-like 12							71.0	66.0	67.0					1																	202887508		2203	4300	6503	SO:0001583	missense	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202887508G>T	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.358C>A	1.37:g.202887508G>T	ENSP00000356230:p.Gln120Lys					KLHL12_uc001gyn.1_5'UTR|KLHL12_uc010pqc.1_Missense_Mutation_p.Q158K|KLHL12_uc009xah.1_Missense_Mutation_p.Q120K	p.Q120K	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	558	-			120					A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	ENST00000367261.3	37	c.358C>A	CCDS1429.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308446	0.40895	.	.	ENSG00000117153	ENST00000367261;ENST00000435533;ENST00000367258	T;T;T	0.66099	-0.19;-0.19;-0.19	5.74	5.74	0.90152	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.050421	0.85682	D	0.000000	T	0.46367	0.1389	N	0.04820	-0.15	0.48975	D	0.999737	B;B;B	0.16396	0.007;0.017;0.017	B;B;B	0.19666	0.026;0.016;0.023	T	0.33929	-0.9849	10	0.38643	T	0.18	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	158;158;120	B7Z7B8;A6NEN8;Q53G59	.;.;KLH12_HUMAN	K	120;158;158	ENSP00000356230:Q120K;ENSP00000416886:Q158K;ENSP00000356227:Q158K	ENSP00000356227:Q158K	Q	-	1	0	KLHL12	201154131	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.062000	0.71155	2.873000	0.98535	0.563000	0.77884	CAA		0.428	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		26	34	1	0	3.08e-08	3.39e-08	26	34				
KLHDC8A	55220	broad.mit.edu	37	1	205308854	205308854	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:205308854G>T	ENST00000367156.3	-	6	1275	c.459C>A	c.(457-459)gaC>gaA	p.D153E	KLHDC8A_ENST00000367155.3_Missense_Mutation_p.D153E|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.D153E|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.D19E|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.D40E	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	153										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACACCCACATGTCCTTCAGCA	0.552																																						uc001hcf.1		NA																	0				ovary(1)	1						c.(457-459)GAC>GAA		kelch domain containing 8A							197.0	159.0	172.0					1																	205308854		2203	4300	6503	SO:0001583	missense	55220							g.chr1:205308854G>T		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.459C>A	1.37:g.205308854G>T	ENSP00000356124:p.Asp153Glu					KLHDC8A_uc010prg.1_Missense_Mutation_p.D40E|KLHDC8A_uc001hcg.1_Missense_Mutation_p.D153E	p.D153E	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		3	1027	-	Breast(84;0.23)		153			Kelch 4.		B3KU70|Q9NVG5	Missense_Mutation	SNP	ENST00000367156.3	37	c.459C>A	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888210	0.72524	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	5.87	4.95	0.65309	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.81823	0.4904	L	0.52905	1.665	0.46823	D	0.999212	D;D	0.89917	1.0;0.984	D;D	0.83275	0.996;0.952	T	0.82305	-0.0523	10	0.72032	D	0.01	-33.0873	11.3107	0.49362	0.1415:0.0:0.8585:0.0	.	40;153	F5H5F1;Q8IYD2	.;KLD8A_HUMAN	E	153;153;153;40	ENSP00000356123:D153E;ENSP00000356124:D153E;ENSP00000442229:D153E;ENSP00000443447:D40E	ENSP00000356123:D153E	D	-	3	2	KLHDC8A	203575477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.951000	0.49089	2.781000	0.95711	0.655000	0.94253	GAC		0.552	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		9	28	1	0	3.1e-07	3.35e-07	9	28				
PTPN14	5784	broad.mit.edu	37	1	214585062	214585062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:214585062G>A	ENST00000366956.5	-	5	669	c.475C>T	c.(475-477)Caa>Taa	p.Q159*	PTPN14_ENST00000543945.1_Nonsense_Mutation_p.Q159*	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	159	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.		Q -> E (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.Q159E(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AGGAAATCTTGAGAATCAAAC	0.303																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.1		NA																	1	Substitution - Missense(1)	p.Q159E(1)	breast(1)	breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(475-477)CAA>TAA		protein tyrosine phosphatase, non-receptor type							58.0	64.0	62.0					1																	214585062		2202	4291	6493	SO:0001587	stop_gained	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214585062G>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.475C>T	1.37:g.214585062G>A	ENSP00000355923:p.Gln159*					PTPN14_uc010pty.1_Nonsense_Mutation_p.Q60*	p.Q159*	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	5	746	-			159		Q -> E (in a breast cancer sample; somatic mutation).	FERM.		Q5VSI0	Nonsense_Mutation	SNP	ENST00000366956.5	37	c.475C>T	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	38	7.006547	0.97998	.	.	ENSG00000152104	ENST00000366956;ENST00000543945	.	.	.	4.8	4.8	0.61643	.	0.191079	0.46758	D	0.000264	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	16.0743	0.80958	0.0:0.0:1.0:0.0	.	.	.	.	X	159	.	ENSP00000355923:Q159X	Q	-	1	0	PTPN14	212651685	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.743000	0.74848	2.216000	0.71823	0.557000	0.71058	CAA		0.303	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		14	25	0	0	0	0	14	25				
MIA3	375056	broad.mit.edu	37	1	222803326	222803326	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:222803326G>C	ENST00000344922.5	+	4	2789	c.2764G>C	c.(2764-2766)Gac>Cac	p.D922H	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.D922H|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	922					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CAAGAGGGAGGACTTACTTAT	0.468																																						uc001hnl.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(2764-2766)GAC>CAC		melanoma inhibitory activity family, member 3							78.0	73.0	75.0					1																	222803326		1952	4138	6090	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222803326G>C		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2764G>C	1.37:g.222803326G>C	ENSP00000340900:p.Asp922His					MIA3_uc009xea.1_Missense_Mutation_p.D758H	p.D922H	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	2773	+			922			Extracellular (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.2764G>C	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.77|10.77	1.445115|1.445115	0.25987|0.25987	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.05382|.	3.45;3.45|.	5.25|5.25	1.87|1.87	0.25490|0.25490	.|.	.|.	.|.	.|.	.|.	T|T	0.42988|0.42988	0.1227|0.1227	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	P;D|.	0.89917|.	0.772;1.0|.	B;D|.	0.68192|.	0.231;0.956|.	T|T	0.30357|0.30357	-0.9981|-0.9981	9|5	0.72032|.	D|.	0.01|.	.|.	6.9767|6.9767	0.24679|0.24679	0.1828:0.4495:0.3677:0.0|0.1828:0.4495:0.3677:0.0	.|.	922;922|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	H|A	922|504	ENSP00000340900:D922H;ENSP00000340587:D922H|.	ENSP00000325973:D922H|.	D|G	+|+	1|2	0|0	MIA3|MIA3	220869949|220869949	0.984000|0.984000	0.35163|0.35163	0.010000|0.010000	0.14722|0.14722	0.037000|0.037000	0.13140|0.13140	1.786000|1.786000	0.38694|0.38694	0.668000|0.668000	0.31126|0.31126	0.462000|0.462000	0.41574|0.41574	GAC|GGA		0.468	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		6	49	0	0	0	0	6	49				
OR2W3	343171	broad.mit.edu	37	1	248059405	248059405	+	Nonsense_Mutation	SNP	G	G	T	rs139271211		TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:248059405G>T	ENST00000360358.3	+	1	517	c.517G>T	c.(517-519)Gag>Tag	p.E173*	OR2W3_ENST00000537741.1_Nonsense_Mutation_p.E173*	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGGCACCACGAGGTGGACCA	0.657																																						uc001idp.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(517-519)GAG>TAG		olfactory receptor, family 2, subfamily W,							106.0	84.0	92.0					1																	248059405		2203	4300	6503	SO:0001587	stop_gained	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059405G>T	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.517G>T	1.37:g.248059405G>T	ENSP00000353516:p.Glu173*					OR2W3_uc010pzb.1_Nonsense_Mutation_p.E173*	p.E173*	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	786	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		173			Extracellular (Potential).		Q6IF06|Q8NG86	Nonsense_Mutation	SNP	ENST00000360358.3	37	c.517G>T	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135088	0.77662	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	.	.	.	5.28	-5.48	0.02592	.	2.256030	0.01301	N	0.010303	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	2.7418	0.05255	0.2447:0.3921:0.2562:0.1069	.	.	.	.	X	173	.	ENSP00000353516:E173X	E	+	1	0	OR2W3	246126028	0.000000	0.05858	0.000000	0.03702	0.442000	0.32017	-2.805000	0.00758	-0.553000	0.06158	-0.660000	0.03859	GAG		0.657	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		27	33	1	0	2.37e-06	2.53e-06	27	33				
CAMK1D	57118	broad.mit.edu	37	10	12856261	12856261	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr10:12856261G>A	ENST00000378847.3	+	7	1046	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	CAMK1D_ENST00000378845.1_Missense_Mutation_p.E237K	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CCTCAAGGCGGAATATGAGTT	0.522																																						uc001ilo.2		NA																	0				ovary(1)|stomach(1)	2						c.(709-711)GAA>AAA		calcium/calmodulin-dependent protein kinase ID							107.0	94.0	98.0					10																	12856261		2203	4300	6503	SO:0001583	missense	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12856261G>A	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.709G>A	10.37:g.12856261G>A	ENSP00000368124:p.Glu237Lys					CAMK1D_uc001iln.2_Missense_Mutation_p.E237K	p.E237K	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	7	944	+			237			Protein kinase.		B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	c.709G>A	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029943	0.75504	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.64618	-0.11;-0.11	5.46	5.46	0.80206	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053328	0.85682	D	0.000000	T	0.43787	0.1263	N	0.04297	-0.235	0.80722	D	1	B;B	0.13145	0.007;0.007	B;B	0.23852	0.042;0.049	T	0.34775	-0.9815	10	0.37606	T	0.19	-31.5666	16.7965	0.85603	0.0:0.0:1.0:0.0	.	237;237	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	K	237	ENSP00000368124:E237K;ENSP00000368122:E237K	ENSP00000368122:E237K	E	+	1	0	CAMK1D	12896267	1.000000	0.71417	0.971000	0.41717	0.948000	0.59901	9.517000	0.98020	2.556000	0.86216	0.555000	0.69702	GAA		0.522	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		27	26	0	0	0	0	27	26				
KIAA1217	56243	broad.mit.edu	37	10	24762687	24762687	+	Silent	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr10:24762687G>A	ENST00000376454.3	+	6	1407	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P	KIAA1217_ENST00000376451.2_Silent_p.P177P|KIAA1217_ENST00000376452.3_Silent_p.P459P|KIAA1217_ENST00000376462.1_Silent_p.P379P|KIAA1217_ENST00000458595.1_Silent_p.P459P|KIAA1217_ENST00000396445.1_Silent_p.P177P|KIAA1217_ENST00000430453.2_Silent_p.P380P|KIAA1217_ENST00000396446.1_Silent_p.P177P|KIAA1217_ENST00000307544.6_Silent_p.P177P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	459					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGAAATATCCGGATAGCCATT	0.502																																						uc001iru.3		NA																	0				ovary(5)|skin(2)	7						c.(1375-1377)CCG>CCA		sickle tail isoform 1							86.0	71.0	76.0					10																	24762687		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24762687G>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1377G>A	10.37:g.24762687G>A						KIAA1217_uc001irs.2_Silent_p.P379P|KIAA1217_uc001irt.3_Silent_p.P459P|KIAA1217_uc010qcy.1_Silent_p.P459P|KIAA1217_uc010qcz.1_Silent_p.P459P|KIAA1217_uc001irv.1_Silent_p.P309P|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Silent_p.P177P|KIAA1217_uc001irz.2_Silent_p.P177P|KIAA1217_uc001irx.2_Silent_p.P177P|KIAA1217_uc001iry.2_Silent_p.P177P	p.P459P	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			6	1780	+			459					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.1377G>A	CCDS31165.1																																																																																				0.502	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		5	51	0	0	0	0	5	51				
C10orf91	170393	broad.mit.edu	37	10	134261557	134261557	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr10:134261557G>A	ENST00000392630.3	+	3	491	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	C10orf91_ENST00000321248.2_Missense_Mutation_p.E144K	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	144			E -> G (in dbSNP:rs11146376).							endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		TGCGGCCTTCGAAGCCTGAAG	0.662																																						uc001llm.2		NA																	0				ovary(1)	1						c.(430-432)GAA>AAA		hypothetical protein LOC170393							50.0	62.0	58.0					10																	134261557		2157	4269	6426	SO:0001583	missense	170393							g.chr10:134261557G>A	BC030794	CCDS7668.1	10q26.3	2004-03-16			ENSG00000180066	ENSG00000180066			27275	protein-coding gene	gene with protein product						12477932	Standard	NM_173541		Approved	bA432J24.4	uc001llm.3	Q5T1B1	OTTHUMG00000019289	ENST00000392630.3:c.430G>A	10.37:g.134261557G>A	ENSP00000376407:p.Glu144Lys						p.E144K	NM_173541	NP_775812	Q5T1B1	CJ091_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)	3	470	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	144					Q8N0T7	Missense_Mutation	SNP	ENST00000392630.3	37	c.430G>A	CCDS7668.1	.	.	.	.	.	.	.	.	.	.	G	6.460	0.453066	0.12283	.	.	ENSG00000180066	ENST00000392630;ENST00000321248	T;T	0.54866	0.55;0.55	1.8	0.861	0.19048	.	.	.	.	.	T	0.25644	0.0624	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18524	-1.0334	8	.	.	.	.	4.2659	0.10763	0.2128:0.0:0.7872:0.0	.	144	Q5T1B1	CJ091_HUMAN	K	144	ENSP00000376407:E144K;ENSP00000323241:E144K	.	E	+	1	0	C10orf91	134111547	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.506000	0.22658	0.311000	0.23014	0.313000	0.20887	GAA		0.662	C10orf91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051078.2	NM_173541		22	59	0	0	0	0	22	59				
KCNQ1	3784	broad.mit.edu	37	11	2799262	2799262	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:2799262G>C	ENST00000155840.5	+	15	1897	c.1789G>C	c.(1789-1791)Gac>Cac	p.D597H	KCNQ1_ENST00000526095.1_3'UTR|KCNQ1_ENST00000335475.5_Missense_Mutation_p.D470H	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	597	Subunits assembly domain.				atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CCGAGTAGAAGACAAGGTAGG	0.612																																						uc001lwn.2		NA																	0				ovary(1)	1						c.(1789-1791)GAC>CAC		potassium voltage-gated channel, KQT-like	Bepridil(DB01244)|Indapamide(DB00808)						65.0	61.0	62.0					11																	2799262		2202	4299	6501	SO:0001583	missense	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2799262G>C	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1789G>C	11.37:g.2799262G>C	ENSP00000155840:p.Asp597His					KCNQ1_uc009ydp.1_Missense_Mutation_p.D381H|KCNQ1_uc001lwo.2_Missense_Mutation_p.D470H	p.D597H	NM_000218	NP_000209	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	15	1897	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)	597			Subunits assembly domain.|Cytoplasmic (Potential).		O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	37	c.1789G>C	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	g	16.66	3.184460	0.57800	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.99656	-6.31;-6.31	3.1	3.1	0.35709	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.270922	0.35067	N	0.003472	D	0.99158	0.9709	L	0.43152	1.355	0.48632	D	0.999684	P;P;D	0.64830	0.657;0.706;0.994	B;B;D	0.65684	0.234;0.346;0.937	D	0.98025	1.0373	10	0.66056	D	0.02	-33.5941	12.4412	0.55625	0.0:0.0:1.0:0.0	.	470;470;597	P51787-2;Q14D14;P51787	.;.;KCNQ1_HUMAN	H	597;470	ENSP00000155840:D597H;ENSP00000334497:D470H	ENSP00000155840:D597H	D	+	1	0	KCNQ1	2755838	1.000000	0.71417	0.995000	0.50966	0.713000	0.41058	5.387000	0.66243	2.039000	0.60335	0.306000	0.20318	GAC		0.612	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		21	39	0	0	0	0	21	39				
HBD	3045	broad.mit.edu	37	11	5255582	5255582	+	Missense_Mutation	SNP	C	C	G	rs35152987	byFrequency	TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:5255582C>G	ENST00000380299.3	-	1	296	c.82G>C	c.(82-84)Gcc>Ccc	p.A28P	HBD_ENST00000292901.3_Missense_Mutation_p.A28P	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	28			A -> S (in Yialousa; dbSNP:rs35152987). {ECO:0000269|PubMed:1742490, ECO:0000269|PubMed:8364213}.		blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCCCAGGGCCTCACCACCA	0.517																																						uc001maf.1		NA																	0				ovary(1)	1	GRCh37	CS910592	HBD	S	rs35152987	c.(82-84)GCC>CCC		delta globin							158.0	137.0	144.0					11																	5255582		2201	4298	6499	SO:0001583	missense	3045				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5255582C>G	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.82G>C	11.37:g.5255582C>G	ENSP00000369654:p.Ala28Pro						p.A28P	NM_000519	NP_000510	P02042	HBD_HUMAN		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	277	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	28					Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	ENST00000380299.3	37	c.82G>C	CCDS31376.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128730	0.77549	.	.	ENSG00000223609	ENST00000292901;ENST00000380299;ENST00000417377;ENST00000429817	D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47	4.61	-0.76	0.11041	Globin-like (1);Globin, structural domain (1);	0.264107	0.42548	D	0.000681	D	0.94594	0.8258	H	0.96208	3.785	0.48696	D	0.999694	D	0.89917	1.0	D	0.91635	0.999	D	0.90958	0.4810	10	0.87932	D	0	0.4852	5.2574	0.15553	0.1385:0.5659:0.0:0.2956	.	28	P02042	HBD_HUMAN	P	28	ENSP00000292901:A28P;ENSP00000369654:A28P;ENSP00000414741:A28P;ENSP00000393810:A28P	ENSP00000292901:A28P	A	-	1	0	HBD	5212158	0.002000	0.14202	0.552000	0.28243	0.985000	0.73830	-0.044000	0.12023	-0.224000	0.09928	0.591000	0.81541	GCC		0.517	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519		19	38	0	0	0	0	19	38				
OR6A2	8590	broad.mit.edu	37	11	6815960	6815960	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:6815960A>G	ENST00000332601.3	-	1	1168	c.980T>C	c.(979-981)gTa>gCa	p.V327A		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	327					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCCTTCTATACATTTCTGCT	0.458																																						uc001mes.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(979-981)GTA>GCA		olfactory receptor, family 6, subfamily A,							101.0	102.0	102.0					11																	6815960		2201	4296	6497	SO:0001583	missense	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6815960A>G	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.980T>C	11.37:g.6815960A>G	ENSP00000330384:p.Val327Ala						p.V327A	NM_003696	NP_003687	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	1180	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	327			Cytoplasmic (Potential).		Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	c.980T>C	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.670215	0.29693	.	.	ENSG00000184933	ENST00000332601	T	0.00414	7.52	4.92	0.7	0.18099	.	1.218160	0.06404	N	0.719425	T	0.00210	0.0006	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40979	-0.9534	10	0.87932	D	0	.	3.0816	0.06264	0.3282:0.4369:0.1466:0.0883	.	327	O95222	OR6A2_HUMAN	A	327	ENSP00000330384:V327A	ENSP00000330384:V327A	V	-	2	0	OR6A2	6772536	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	0.571000	0.23669	0.049000	0.15920	-0.213000	0.12676	GTA		0.458	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		30	41	0	0	0	0	30	41				
NLRP14	338323	broad.mit.edu	37	11	7081185	7081185	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:7081185C>A	ENST00000299481.4	+	9	3040	c.2694C>A	c.(2692-2694)caC>caA	p.H898Q		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	898					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTCTTCTACACAACAAGAGCC	0.443																																						uc001mfb.1		NA																	0				ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(2692-2694)CAC>CAA		NLR family, pyrin domain containing 14							156.0	144.0	148.0					11																	7081185		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7081185C>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2694C>A	11.37:g.7081185C>A	ENSP00000299481:p.His898Gln						p.H898Q	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	9	3017	+			898					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.2694C>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986349	0.35036	.	.	ENSG00000158077	ENST00000299481	T	0.42513	0.97	4.5	0.213	0.15244	.	1.484920	0.04583	N	0.395276	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	P	0.36535	0.557	B	0.28553	0.091	T	0.07635	-1.0762	10	0.10902	T	0.67	.	1.3892	0.02247	0.1737:0.4638:0.169:0.1935	.	898	Q86W24	NAL14_HUMAN	Q	898	ENSP00000299481:H898Q	ENSP00000299481:H898Q	H	+	3	2	NLRP14	7037761	0.590000	0.26815	0.057000	0.19452	0.829000	0.46940	0.887000	0.28254	-0.038000	0.13624	0.655000	0.94253	CAC		0.443	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		42	86	1	0	4e-26	4.65e-26	42	86				
USP47	55031	broad.mit.edu	37	11	11913622	11913622	+	Silent	SNP	C	C	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:11913622C>G	ENST00000399455.2	+	5	645	c.525C>G	c.(523-525)tcC>tcG	p.S175S	USP47_ENST00000339865.5_Silent_p.S87S|USP47_ENST00000527733.1_Silent_p.S155S|USP47_ENST00000539466.1_5'UTR	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	175					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AAAGCTACTCCTACTCATCTA	0.403																																						uc001mjq.1		NA																	0				ovary(1)|skin(1)	2						c.(523-525)TCC>TCG		ubiquitin specific protease 47							154.0	148.0	150.0					11																	11913622		1845	4083	5928	SO:0001819	synonymous_variant	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11913622C>G	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.525C>G	11.37:g.11913622C>G						USP47_uc001mjr.2_Silent_p.S87S|USP47_uc001mjs.2_Silent_p.S155S	p.S175S	NM_017944	NP_060414	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	5	1288	+			175					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Silent	SNP	ENST00000399455.2	37	c.525C>G																																																																																					0.403	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		29	71	0	0	0	0	29	71				
SPTY2D1	144108	broad.mit.edu	37	11	18636404	18636404	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:18636404G>C	ENST00000336349.5	-	3	1652	c.1417C>G	c.(1417-1419)Cat>Gat	p.H473D	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	473	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CGAAGTTCATGTGGACTGCTC	0.622																																						uc001moy.2		NA																	0				breast(1)	1						c.(1417-1419)CAT>GAT		SPT2, Suppressor of Ty, domain containing 1							38.0	42.0	41.0					11																	18636404		2199	4293	6492	SO:0001583	missense	144108							g.chr11:18636404G>C	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1417C>G	11.37:g.18636404G>C	ENSP00000337991:p.His473Asp					SPTY2D1_uc010rdi.1_Missense_Mutation_p.H473D	p.H473D	NM_194285	NP_919261	Q68D10	SPT2_HUMAN			3	1633	-			473			Ser-rich.		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	c.1417C>G	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268668	0.23136	.	.	ENSG00000179119	ENST00000336349	T	0.21734	1.99	5.88	4.92	0.64577	.	1.206130	0.05631	N	0.581751	T	0.24851	0.0603	L	0.57536	1.79	0.20926	N	0.999825	B	0.21520	0.057	B	0.16722	0.016	T	0.38908	-0.9639	10	0.13108	T	0.6	0.7449	12.8162	0.57667	0.0:0.1232:0.75:0.1268	.	473	Q68D10	SPT2_HUMAN	D	473	ENSP00000337991:H473D	ENSP00000337991:H473D	H	-	1	0	SPTY2D1	18592980	0.001000	0.12720	0.969000	0.41365	0.944000	0.59088	0.963000	0.29293	2.785000	0.95823	0.655000	0.94253	CAT		0.622	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		12	49	0	0	0	0	12	49				
TMEM132A	54972	broad.mit.edu	37	11	60702152	60702152	+	Silent	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:60702152C>T	ENST00000453848.2	+	9	1910	c.1752C>T	c.(1750-1752)caC>caT	p.H584H	TMEM132A_ENST00000005286.4_Silent_p.H585H			Q24JP5	T132A_HUMAN	transmembrane protein 132A	584						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGGCGCCACACGCCCGCGTGC	0.721																																						uc001nqj.2		NA																	0				skin(1)	1						c.(1750-1752)CAC>CAT		transmembrane protein 132A isoform b							14.0	16.0	15.0					11																	60702152		2185	4277	6462	SO:0001819	synonymous_variant	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60702152C>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1752C>T	11.37:g.60702152C>T						TMEM132A_uc001nqi.2_Silent_p.H585H|TMEM132A_uc001nqm.2_Translation_Start_Site	p.H584H	NM_178031	NP_821174	Q24JP5	T132A_HUMAN			9	1945	+			584			Extracellular (Potential).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	c.1752C>T	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	C	0.098	-1.156309	0.01686	.	.	ENSG00000006118	ENST00000540112	.	.	.	3.8	-4.37	0.03633	.	.	.	.	.	T	0.27900	0.0687	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	T	0.33317	-0.9873	4	.	.	.	.	7.3005	0.26418	0.0:0.2698:0.2698:0.4604	.	.	.	.	M	13	.	.	T	+	2	0	TMEM132A	60458728	0.000000	0.05858	0.014000	0.15608	0.064000	0.16182	-0.887000	0.04152	-0.979000	0.03529	-0.786000	0.03341	ACG		0.721	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		10	9	0	0	0	0	10	9				
AHNAK	79026	broad.mit.edu	37	11	62293458	62293458	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:62293458T>C	ENST00000378024.4	-	5	8705	c.8431A>G	c.(8431-8433)Atc>Gtc	p.I2811V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2811					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGTCCTTCGATATTCACATCG	0.448																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(8431-8433)ATC>GTC		AHNAK nucleoprotein isoform 1							157.0	157.0	157.0					11																	62293458		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62293458T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8431A>G	11.37:g.62293458T>C	ENSP00000367263:p.Ile2811Val					AHNAK_uc001ntk.1_Intron	p.I2811V	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	8731	-		Melanoma(852;0.155)	2811					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.8431A>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	2.634	-0.285735	0.05605	.	.	ENSG00000124942	ENST00000378024	T	0.18810	2.19	3.91	-0.431	0.12295	.	.	.	.	.	T	0.15696	0.0378	L	0.45581	1.43	0.19775	N	0.999959	B	0.15930	0.015	B	0.19946	0.027	T	0.40384	-0.9566	9	0.14656	T	0.56	.	7.1675	0.25700	0.0:0.0832:0.4286:0.4882	.	2811	Q09666	AHNK_HUMAN	V	2811	ENSP00000367263:I2811V	ENSP00000367263:I2811V	I	-	1	0	AHNAK	62050034	0.000000	0.05858	0.001000	0.08648	0.492000	0.33523	-2.734000	0.00803	-0.314000	0.08716	0.248000	0.18094	ATC		0.448	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		22	153	0	0	0	0	22	153				
ACY3	91703	broad.mit.edu	37	11	67412797	67412797	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:67412797C>T	ENST00000255082.3	-	5	657	c.487G>A	c.(487-489)Gag>Aag	p.E163K	ACY3_ENST00000529256.1_Missense_Mutation_p.E42K	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	163	Hydrolytic domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	TTGTAGCTCTCCTCCCCAGAC	0.657																																					GBM(56;346 1011 27014 29495 46841)	uc001omq.2		NA																	0					0						c.(487-489)GAG>AAG		aspartoacylase 3	L-Aspartic Acid(DB00128)						40.0	37.0	38.0					11																	67412797		2200	4294	6494	SO:0001583	missense	91703				interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	g.chr11:67412797C>T	BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.487G>A	11.37:g.67412797C>T	ENSP00000255082:p.Glu163Lys						p.E163K	NM_080658	NP_542389	Q96HD9	ACY3_HUMAN			5	658	-			163						Missense_Mutation	SNP	ENST00000255082.3	37	c.487G>A	CCDS8175.1	.	.	.	.	.	.	.	.	.	.	C	4.324	0.059518	0.08339	.	.	ENSG00000132744	ENST00000255082;ENST00000529256	D;D	0.97665	-4.48;-4.48	3.29	-0.785	0.10950	.	0.404186	0.26341	N	0.024931	D	0.89750	0.6805	N	0.17800	0.525	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.78157	-0.2313	10	0.07175	T	0.84	-15.6919	7.4971	0.27496	0.0:0.6027:0.0:0.3973	.	163	Q96HD9	ACY3_HUMAN	K	163;42	ENSP00000255082:E163K;ENSP00000434270:E42K	ENSP00000255082:E163K	E	-	1	0	ACY3	67169373	0.001000	0.12720	0.000000	0.03702	0.032000	0.12392	0.314000	0.19432	-0.140000	0.11394	0.561000	0.74099	GAG		0.657	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394002.1	NM_080658		6	19	0	0	0	0	6	19				
C11orf54	28970	broad.mit.edu	37	11	93483549	93483549	+	Silent	SNP	C	C	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:93483549C>A	ENST00000331239.4	+	3	272	c.93C>A	c.(91-93)gtC>gtA	p.V31V	C11orf54_ENST00000540113.1_Silent_p.V12V|C11orf54_ENST00000528288.1_Silent_p.V31V|C11orf54_ENST00000528099.1_Silent_p.V31V|C11orf54_ENST00000354421.3_Silent_p.V31V			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	31					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTGCTGATGTCCAGGTCTCTG	0.338																																						uc009ywi.2		NA																	0					0						c.(91-93)GTC>GTA		hypothetical protein LOC28970							177.0	176.0	177.0					11																	93483549		2201	4298	6499	SO:0001819	synonymous_variant	28970					nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding	g.chr11:93483549C>A	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.93C>A	11.37:g.93483549C>A						C11orf54_uc001pee.1_Silent_p.V31V|C11orf54_uc001pef.2_Silent_p.V31V|C11orf54_uc001peg.2_Silent_p.V31V|C11orf54_uc001peh.2_Silent_p.V31V|C11orf54_uc001pei.2_Silent_p.V12V|C11orf54_uc001pej.2_Silent_p.V12V	p.V31V	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN			4	424	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	31					A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Silent	SNP	ENST00000331239.4	37	c.93C>A																																																																																					0.338	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039		20	14	1	0	3.6e-14	4.08e-14	20	14				
TAS2R19	259294	broad.mit.edu	37	12	11174444	11174444	+	Silent	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:11174444G>A	ENST00000390673.2	-	1	775	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	243					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ATTATACACAGAAAGTAAATG	0.428																																						uc010shj.1		NA																	0				skin(1)	1						c.(727-729)CTG>TTG		taste receptor, type 2, member 19							160.0	148.0	152.0					12																	11174444		2203	4300	6503	SO:0001819	synonymous_variant	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11174444G>A	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.727C>T	12.37:g.11174444G>A						PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.L243L	NM_176888	NP_795369	P59542	T2R19_HUMAN			1	727	-			243			Helical; Name=6; (Potential).		Q3MIJ4|Q645X8	Silent	SNP	ENST00000390673.2	37	c.727C>T	CCDS8640.1																																																																																				0.428	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		35	95	0	0	0	0	35	95				
PLEKHA5	54477	broad.mit.edu	37	12	19501415	19501415	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:19501415C>A	ENST00000299275.6	+	19	2489	c.2483C>A	c.(2482-2484)tCa>tAa	p.S828*	PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.S810*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.S891*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.S886*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.S994*|PLEKHA5_ENST00000538714.1_Nonsense_Mutation_p.S886*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.S817*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.S586*|PLEKHA5_ENST00000359180.3_Intron	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	828					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GAAGAAAAATCAGAACCTGTT	0.353																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(2482-2484)TCA>TAA		pleckstrin homology domain containing, family A							91.0	92.0	92.0					12																	19501415		2203	4300	6503	SO:0001587	stop_gained	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19501415C>A	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2483C>A	12.37:g.19501415C>A	ENSP00000299275:p.Ser828*					PLEKHA5_uc010sie.1_Nonsense_Mutation_p.S989*|PLEKHA5_uc001rea.2_Nonsense_Mutation_p.S886*|PLEKHA5_uc009zin.2_Nonsense_Mutation_p.S586*|PLEKHA5_uc010sif.1_Nonsense_Mutation_p.S817*|PLEKHA5_uc010sig.1_Nonsense_Mutation_p.S810*|PLEKHA5_uc010sih.1_Nonsense_Mutation_p.S783*|PLEKHA5_uc001rec.1_Nonsense_Mutation_p.S637*|PLEKHA5_uc009zio.2_Intron	p.S828*	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			19	2569	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		828					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Nonsense_Mutation	SNP	ENST00000299275.6	37	c.2483C>A	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	C	41	8.608405	0.98884	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	.	.	.	4.82	4.82	0.62117	.	0.972363	0.08398	N	0.951910	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.022	13.4843	0.61355	0.0:0.7115:0.2885:0.0	.	.	.	.	X	891;886;990;994;828;586;886;817;810;783	.	ENSP00000299275:S828X	S	+	2	0	PLEKHA5	19392682	0.890000	0.30428	1.000000	0.80357	0.998000	0.95712	1.680000	0.37607	2.347000	0.79759	0.563000	0.77884	TCA		0.353	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		26	36	1	0	1.34e-20	1.55e-20	26	36				
KRT86	3892	broad.mit.edu	37	12	52699102	52699102	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:52699102G>C	ENST00000423955.2	+	7	992	c.814G>C	c.(814-816)Gac>Cac	p.D272H	KRT86_ENST00000293525.5_Missense_Mutation_p.D272H|KRT86_ENST00000544024.1_Missense_Mutation_p.D272H|RP11-845M18.6_ENST00000552441.1_RNA			O43790	KRT86_HUMAN	keratin 86	272	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGAACATGGACTGCATCAT	0.592																																						uc010snq.1		NA																	0				ovary(1)	1						c.(814-816)GAC>CAC		keratin 86							173.0	142.0	153.0					12																	52699102		2203	4300	6503	SO:0001583	missense	3892				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52699102G>C	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.814G>C	12.37:g.52699102G>C	ENSP00000444533:p.Asp272His					KRT86_uc009zmg.2_Missense_Mutation_p.D272H|KRT81_uc001sac.2_Intron|KRT86_uc001sad.2_Missense_Mutation_p.D272H	p.D272H	NM_002284	NP_002275	O43790	KRT86_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	947	+			272			Rod.|Coil 2.		P78387	Missense_Mutation	SNP	ENST00000423955.2	37	c.814G>C	CCDS41785.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561932	0.45590	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	T;T;T	0.79554	-1.28;-1.28;-1.28	4.51	3.62	0.41486	Filament (1);	0.157646	0.28996	U	0.013465	D	0.83912	0.5357	M	0.87617	2.895	0.39385	D	0.96631	B	0.23990	0.095	B	0.37451	0.25	T	0.82900	-0.0228	10	0.72032	D	0.01	.	8.0699	0.30682	0.2538:0.0:0.7462:0.0	.	272	O43790	KRT86_HUMAN	H	272	ENSP00000443169:D272H;ENSP00000444533:D272H;ENSP00000293525:D272H	ENSP00000293525:D272H	D	+	1	0	AC021066.1;KRT86	50985369	1.000000	0.71417	0.997000	0.53966	0.846000	0.48090	2.478000	0.45189	0.917000	0.36895	0.499000	0.49734	GAC		0.592	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		45	72	0	0	0	0	45	72				
SMARCC2	6601	broad.mit.edu	37	12	56575309	56575309	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:56575309G>C	ENST00000267064.4	-	10	999	c.913C>G	c.(913-915)Cct>Gct	p.P305A	SMARCC2_ENST00000550859.1_5'Flank|SMARCC2_ENST00000347471.4_Missense_Mutation_p.P305A|SMARCC2_ENST00000394023.3_Missense_Mutation_p.P305A|SMARCC2_ENST00000550164.1_Missense_Mutation_p.P305A|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	305					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTTGGTGAAGGAGAGGGGGAG	0.507																																						uc001skb.2		NA																	0				lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(913-915)CCT>GCT		SWI/SNF-related matrix-associated							98.0	90.0	92.0					12																	56575309		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56575309G>C	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.913C>G	12.37:g.56575309G>C	ENSP00000267064:p.Pro305Ala					SMARCC2_uc001skd.2_Missense_Mutation_p.P305A|SMARCC2_uc001ska.2_Missense_Mutation_p.P305A|SMARCC2_uc001skc.2_Missense_Mutation_p.P305A|SMARCC2_uc010sqf.1_Missense_Mutation_p.P194A	p.P305A	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		10	1019	-			305					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.913C>G	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578378	0.86645	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.59772	0.38;0.24;0.34	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	M	0.82193	2.58	0.58432	D	0.999997	D;D;D;D;D	0.67145	0.993;0.996;0.993;0.993;0.996	D;D;D;D;D	0.73708	0.956;0.981;0.956;0.956;0.981	T	0.80538	-0.1338	10	0.59425	D	0.04	-7.6068	16.4956	0.84242	0.0:0.0:1.0:0.0	.	194;305;310;305;305	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	A	305	ENSP00000449396:P305A;ENSP00000302919:P305A;ENSP00000267064:P305A	ENSP00000267064:P305A	P	-	1	0	SMARCC2	54861576	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.228000	0.95250	2.620000	0.88729	0.561000	0.74099	CCT		0.507	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			27	53	0	0	0	0	27	53				
LRIG3	121227	broad.mit.edu	37	12	59277366	59277366	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:59277366T>A	ENST00000320743.3	-	11	1538	c.1252A>T	c.(1252-1254)Agt>Tgt	p.S418C	LRIG3_ENST00000379141.4_Missense_Mutation_p.S358C	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	418					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GCGTTGTCACTCAGGTCTCTG	0.413			T	ROS1	NSCLC																																	uc001sqr.2		NA		Dom	yes		12	12q14.1	121227		leucine-rich repeats and immunoglobulin-like domains 3			E					0				skin(3)|ovary(1)	4						c.(1252-1254)AGT>TGT		leucine-rich repeats and immunoglobulin-like							111.0	105.0	107.0					12																	59277366		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59277366T>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1252A>T	12.37:g.59277366T>A	ENSP00000326759:p.Ser418Cys					LRIG3_uc009zqh.2_Missense_Mutation_p.S358C|LRIG3_uc010ssh.1_RNA	p.S418C	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		11	1498	-			418			LRR 15.		Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.1252A>T	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.700650	0.88924	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.63913	-0.07;-0.07	5.85	5.85	0.93711	.	0.000000	0.43260	D	0.000583	D	0.82407	0.5030	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.982;0.999	D	0.85360	0.1107	9	.	.	.	.	15.8886	0.79273	0.0:0.0:0.0:1.0	.	358;418	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	C	358;418	ENSP00000368436:S358C;ENSP00000326759:S418C	.	S	-	1	0	LRIG3	57563633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.971000	0.63749	2.234000	0.73211	0.460000	0.39030	AGT		0.413	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		19	38	0	0	0	0	19	38				
LIN7A	8825	broad.mit.edu	37	12	81331433	81331433	+	Silent	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:81331433G>C	ENST00000552864.1	-	1	271	c.69C>G	c.(67-69)ctC>ctG	p.L23L	MIR618_ENST00000385287.1_RNA	NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	23					exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TGTCCAGGGTGAGCGGCTGGA	0.637																																						uc001szj.1		NA																	0				ovary(1)|skin(1)	2						c.(67-69)CTC>CTG		lin-7 homolog A							23.0	23.0	23.0					12																	81331433		2201	4299	6500	SO:0001819	synonymous_variant	8825				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding	g.chr12:81331433G>C	AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"""mammalian LIN-7 1"""	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.69C>G	12.37:g.81331433G>C						LIN7A_uc001szk.1_RNA|MIR618_hsa-mir-618|MI0003632_5'Flank	p.L23L	NM_004664	NP_004655	O14910	LIN7A_HUMAN			1	262	-			23			Kinase interacting site.		A4FTY3|Q147W1|Q6LES3|Q7LDS4	Silent	SNP	ENST00000552864.1	37	c.69C>G	CCDS9021.1																																																																																				0.637	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1			7	9	0	0	0	0	7	9				
MED13L	23389	broad.mit.edu	37	12	116444184	116444184	+	Silent	SNP	A	A	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:116444184A>G	ENST00000281928.3	-	12	2477	c.2271T>C	c.(2269-2271)acT>acC	p.T757T		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	757						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GACCTGGTGTAGTGACATCCT	0.418																																						uc001tvw.2		NA																	0				skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(2269-2271)ACT>ACC		mediator complex subunit 13-like							104.0	100.0	102.0					12																	116444184		2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116444184A>G	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.2271T>C	12.37:g.116444184A>G							p.T757T	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	12	2326	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		757					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.2271T>C	CCDS9177.1																																																																																				0.418	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			23	46	0	0	0	0	23	46				
TEP1	7011	broad.mit.edu	37	14	20852263	20852263	+	Silent	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr14:20852263C>T	ENST00000262715.5	-	24	3508	c.3468G>A	c.(3466-3468)ctG>ctA	p.L1156L	TEP1_ENST00000556935.1_Silent_p.L1048L|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1156					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGGGCAGCATCAGCCGTTGCA	0.647																																						uc001vxe.2		NA																	0				ovary(5)	5						c.(3466-3468)CTG>CTA		telomerase-associated protein 1							57.0	56.0	57.0					14																	20852263		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20852263C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3468G>A	14.37:g.20852263C>T						TEP1_uc010ahk.2_Silent_p.L506L|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.L1048L|TEP1_uc010tlh.1_5'Flank	p.L1156L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	24	3508	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1156					A0AUV9	Silent	SNP	ENST00000262715.5	37	c.3468G>A	CCDS9548.1																																																																																				0.647	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		36	42	0	0	0	0	36	42				
AJUBA	84962	broad.mit.edu	37	14	23444271	23444271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr14:23444271G>A	ENST00000262713.2	-	5	1657	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	AJUBA_ENST00000397388.3_Nonsense_Mutation_p.R11*|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.R428*	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	428	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										ACAATGCATCGGAAACAGCCT	0.532																																						uc001whz.2		NA																	0					0						c.(1282-1284)CGA>TGA		ajuba isoform 1							127.0	119.0	122.0					14																	23444271		2203	4300	6503	SO:0001587	stop_gained	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23444271G>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1282C>T	14.37:g.23444271G>A	ENSP00000262713:p.Arg428*					JUB_uc001why.2_Nonsense_Mutation_p.R11*	p.R428*	NM_032876	NP_116265	Q96IF1	JUB_HUMAN		GBM - Glioblastoma multiforme(265;0.0122)	5	1658	-	all_cancers(95;4.6e-05)		428			LIM zinc-binding 2.		A8MX18|D3DS37	Nonsense_Mutation	SNP	ENST00000262713.2	37	c.1282C>T	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	G	40	8.158380	0.98683	.	.	ENSG00000129474	ENST00000262713;ENST00000397388;ENST00000361265;ENST00000553592;ENST00000556731;ENST00000553911	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	.	.	.	X	428;11;428;11;11;11	.	ENSP00000262713:R428X	R	-	1	2	JUB	22514111	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.272000	0.72575	2.941000	0.99782	0.655000	0.94253	CGA		0.532	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			52	20	0	0	0	0	52	20				
SYNE2	23224	broad.mit.edu	37	14	64519707	64519707	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr14:64519707G>C	ENST00000344113.4	+	48	9288	c.9076G>C	c.(9076-9078)Gaa>Caa	p.E3026Q	SYNE2_ENST00000358025.3_Missense_Mutation_p.E3026Q|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.E3059Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3026			E -> D (in dbSNP:rs34843668).		centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCAAGTATTTGAAAAAGAAAA	0.318																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(9076-9078)GAA>CAA		spectrin repeat containing, nuclear envelope 2							49.0	49.0	49.0					14																	64519707		1794	4060	5854	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64519707G>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.9076G>C	14.37:g.64519707G>C	ENSP00000341781:p.Glu3026Gln					SYNE2_uc001xgl.2_Missense_Mutation_p.E3026Q|SYNE2_uc010apw.1_5'Flank	p.E3026Q	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	9306	+			3026			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.9076G>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	4.886	0.164660	0.09287	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.57436	0.78;0.78;0.4	5.69	2.48	0.30137	.	0.589219	0.16197	N	0.225126	T	0.29321	0.0730	N	0.14661	0.345	0.80722	D	1	B;B	0.21071	0.03;0.051	B;B	0.17433	0.008;0.018	T	0.10847	-1.0612	10	0.44086	T	0.13	.	2.8326	0.05505	0.3177:0.2445:0.4377:0.0	.	3026;3026	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	Q	3026;3026;3059;3059	ENSP00000350719:E3026Q;ENSP00000341781:E3026Q;ENSP00000452570:E3059Q	ENSP00000261678:E3059Q	E	+	1	0	SYNE2	63589460	0.803000	0.28956	0.300000	0.25030	0.423000	0.31445	1.109000	0.31135	0.758000	0.33059	0.462000	0.41574	GAA		0.318	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		25	37	0	0	0	0	25	37				
SYNE2	23224	broad.mit.edu	37	14	64519931	64519931	+	Missense_Mutation	SNP	G	G	C	rs375011056		TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr14:64519931G>C	ENST00000344113.4	+	48	9512	c.9300G>C	c.(9298-9300)gaG>gaC	p.E3100D	SYNE2_ENST00000358025.3_Missense_Mutation_p.E3100D|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.E3133D	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3100					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TATGTGATGAGATAATAAAGA	0.333																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(9298-9300)GAG>GAC		spectrin repeat containing, nuclear envelope 2							33.0	32.0	33.0					14																	64519931		1810	4068	5878	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64519931G>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.9300G>C	14.37:g.64519931G>C	ENSP00000341781:p.Glu3100Asp					SYNE2_uc001xgl.2_Missense_Mutation_p.E3100D|SYNE2_uc010apw.1_5'Flank	p.E3100D	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	9530	+			3100			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.9300G>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	1.866	-0.461434	0.04508	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.60548	0.57;0.57;0.18	5.33	-2.69	0.06022	.	0.457799	0.20012	N	0.101104	T	0.33962	0.0881	L	0.34521	1.04	0.21933	N	0.999464	B;B	0.13594	0.005;0.008	B;B	0.14578	0.005;0.011	T	0.07520	-1.0768	10	0.27785	T	0.31	.	1.9473	0.03359	0.2571:0.2167:0.4145:0.1117	.	3100;3100	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	D	3100;3100;3133;3133	ENSP00000350719:E3100D;ENSP00000341781:E3100D;ENSP00000452570:E3133D	ENSP00000261678:E3133D	E	+	3	2	SYNE2	63589684	0.208000	0.23494	0.002000	0.10522	0.251000	0.25915	0.399000	0.20916	-0.284000	0.09102	-0.521000	0.04368	GAG		0.333	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		19	30	0	0	0	0	19	30				
MGA	23269	broad.mit.edu	37	15	41961802	41961802	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr15:41961802C>T	ENST00000570161.1	+	1	710	c.710C>T	c.(709-711)aCa>aTa	p.T237I	MGA_ENST00000219905.7_Missense_Mutation_p.T237I|MGA_ENST00000566586.1_Missense_Mutation_p.T237I|MGA_ENST00000545763.1_Missense_Mutation_p.T237I|MGA_ENST00000389936.4_Missense_Mutation_p.T237I|MGA_ENST00000568630.1_Intron			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTGCAGTAACAGCTTATCAG	0.428																																						uc001zog.1		NA																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(709-711)ACA>ATA		MAX-interacting protein isoform 2							76.0	71.0	72.0					15																	41961802		1877	4120	5997	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41961802C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.710C>T	15.37:g.41961802C>T	ENSP00000457035:p.Thr237Ile					MGA_uc010ucy.1_Missense_Mutation_p.T237I|MGA_uc010ucz.1_Missense_Mutation_p.T237I	p.T237I	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	2	801	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	237			T-box.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.710C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481396	0.84747	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.92647	-3.08;-3.08;-3.08	5.93	5.93	0.95920	.	0.042029	0.85682	D	0.000000	D	0.97586	0.9209	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97987	1.0352	10	0.87932	D	0	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	237;237	F5H7K2;E7ENI0	.;.	I	237	ENSP00000219905:T237I;ENSP00000374586:T237I;ENSP00000442467:T237I	ENSP00000219905:T237I	T	+	2	0	MGA	39749094	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.814000	0.96858	0.563000	0.77884	ACA		0.428	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		15	19	0	0	0	0	15	19				
USP8	9101	broad.mit.edu	37	15	50733619	50733619	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr15:50733619T>G	ENST00000396444.3	+	3	516	c.178T>G	c.(178-180)Tat>Gat	p.Y60D	USP8_ENST00000433963.1_Missense_Mutation_p.Y60D|USP8_ENST00000307179.4_Missense_Mutation_p.Y60D|USP8_ENST00000558892.1_3'UTR|USP8_ENST00000425032.3_Intron	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	60	MIT.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GGAAAGGGCCTATGTACTATA	0.323																																						uc001zym.3		NA																	0				lung(1)|central_nervous_system(1)	2						c.(178-180)TAT>GAT		ubiquitin specific peptidase 8							80.0	80.0	80.0					15																	50733619		2196	4294	6490	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50733619T>G	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.178T>G	15.37:g.50733619T>G	ENSP00000379721:p.Tyr60Asp					USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.3_Missense_Mutation_p.Y60D|USP8_uc001zyn.3_Missense_Mutation_p.Y60D|USP8_uc010ufh.1_Intron|USP8_uc010bev.1_5'UTR	p.Y60D	NM_001128611	NP_001122083	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	4	678	+			60			MIT.		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.178T>G	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.726218	0.89298	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179	T;T;T	0.56776	0.44;0.44;0.44	5.84	5.84	0.93424	Domain of unknown function DUF1873 (1);	0.000000	0.85682	D	0.000000	T	0.73110	0.3545	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76515	-0.2931	10	0.87932	D	0	-16.2003	16.2129	0.82178	0.0:0.0:0.0:1.0	.	60	P40818	UBP8_HUMAN	D	60	ENSP00000379721:Y60D;ENSP00000405537:Y60D;ENSP00000302239:Y60D	ENSP00000302239:Y60D	Y	+	1	0	USP8	48520911	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.589000	0.82641	2.220000	0.72140	0.482000	0.46254	TAT		0.323	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		12	23	0	0	0	0	12	23				
NR2F2	7026	broad.mit.edu	37	15	96875682	96875682	+	Silent	SNP	C	C	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr15:96875682C>A	ENST00000394166.3	+	1	1737	c.348C>A	c.(346-348)cgC>cgA	p.R116R	NR2F2_ENST00000394171.2_5'Flank|NR2F2_ENST00000453270.2_5'Flank|NR2F2_ENST00000421109.2_Intron|MIR1469_ENST00000410719.1_RNA	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	116					anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			ACACGTGCCGCGCCAACCGGA	0.602																																						uc010uri.1		NA																	0				ovary(2)|breast(1)	3						c.(346-348)CGC>CGA		nuclear receptor subfamily 2, group F, member 2							92.0	78.0	83.0					15																	96875682		2197	4298	6495	SO:0001819	synonymous_variant	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96875682C>A	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.348C>A	15.37:g.96875682C>A						NR2F2_uc002btp.2_Intron|NR2F2_uc010urj.1_5'Flank|MIR1469_hsa-mir-1469|MI0007074_5'Flank|NR2F2_uc010urk.1_5'Flank	p.R116R	NM_021005	NP_066285	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		1	1572	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		116			NR C4-type.|Nuclear receptor.		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Silent	SNP	ENST00000394166.3	37	c.348C>A	CCDS10375.1																																																																																				0.602	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			18	23	1	0	1.34e-09	1.49e-09	18	23				
SPNS1	83985	broad.mit.edu	37	16	28992919	28992919	+	Silent	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr16:28992919G>A	ENST00000311008.11	+	6	1169	c.792G>A	c.(790-792)ctG>ctA	p.L264L	SPNS1_ENST00000561868.1_3'UTR|SPNS1_ENST00000334536.8_Silent_p.L264L|SPNS1_ENST00000352260.7_Silent_p.L242L|SPNS1_ENST00000565975.1_Silent_p.L309L|RP11-264B17.4_ENST00000567209.1_RNA|SPNS1_ENST00000323081.8_Silent_p.L191L|RP11-264B17.3_ENST00000569969.1_RNA	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	264					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GGGCAGATCTGAGGGCTCTGG	0.592											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010vdi.1		NA																	0					0						c.(790-792)CTG>CTA		spinster homolog 1 isoform 1							73.0	77.0	76.0					16																	28992919		2197	4300	6497	SO:0001819	synonymous_variant	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28992919G>A	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.792G>A	16.37:g.28992919G>A			OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	806	uc010vct.1_Intron|SPNS1_uc002drx.2_Silent_p.L191L|SPNS1_uc002dsa.2_Silent_p.L264L|SPNS1_uc002drz.2_Silent_p.L264L|SPNS1_uc010byp.2_Silent_p.L242L|SPNS1_uc010byq.1_Silent_p.L196L	p.L264L	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN			7	932	+			264					B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Silent	SNP	ENST00000311008.11	37	c.792G>A	CCDS10646.1																																																																																				0.592	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		31	54	0	0	0	0	31	54				
RNF40	9810	broad.mit.edu	37	16	30780713	30780713	+	Silent	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr16:30780713G>A	ENST00000324685.6	+	16	2889	c.2454G>A	c.(2452-2454)aaG>aaA	p.K818K	RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000563683.1_Silent_p.K778K|RNF40_ENST00000402121.3_Silent_p.K510K|RNF40_ENST00000357890.5_Silent_p.K718K	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	818					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TTGGCCTCAAGTCCCAGGTAT	0.597																																						uc002dzq.2		NA																	0				central_nervous_system(1)	1						c.(2452-2454)AAG>AAA		ring finger protein 40							78.0	80.0	79.0					16																	30780713		2197	4300	6497	SO:0001819	synonymous_variant	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30780713G>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.2454G>A	16.37:g.30780713G>A						RNF40_uc010caa.2_Silent_p.K818K|RNF40_uc010cab.2_Silent_p.K718K|RNF40_uc010vfa.1_Silent_p.K150K|RNF40_uc002dzr.2_Silent_p.K818K|RNF40_uc010vfb.1_Silent_p.K510K|RNF40_uc010vfc.1_Silent_p.K150K	p.K818K	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		16	2577	+			818			Potential.		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Silent	SNP	ENST00000324685.6	37	c.2454G>A	CCDS10691.1																																																																																				0.597	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		23	42	0	0	0	0	23	42				
NUP93	9688	broad.mit.edu	37	16	56878497	56878497	+	Silent	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr16:56878497G>A	ENST00000308159.5	+	22	2557	c.2436G>A	c.(2434-2436)gtG>gtA	p.V812V	NUP93_ENST00000569842.1_Missense_Mutation_p.A852T|NUP93_ENST00000564887.1_Silent_p.V689V|NUP93_ENST00000542526.1_Silent_p.V689V	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	812					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CGAGGCTGGTGCAGATGGAGG	0.547																																					Colon(33;610 796 1305 1705 38917)	uc002eka.2		NA																	0				ovary(1)|lung(1)	2						c.(2434-2436)GTG>GTA		nucleoporin 93kDa							130.0	98.0	109.0					16																	56878497		2198	4300	6498	SO:0001819	synonymous_variant	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56878497G>A	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.2436G>A	16.37:g.56878497G>A						NUP93_uc002ekb.2_Silent_p.V689V|NUP93_uc010vhi.1_Silent_p.V689V	p.V812V	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN			22	2557	+			812					B3KPQ8|Q14705	Silent	SNP	ENST00000308159.5	37	c.2436G>A	CCDS10769.1																																																																																				0.547	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		22	42	0	0	0	0	22	42				
GLG1	2734	broad.mit.edu	37	16	74499652	74499652	+	Silent	SNP	T	T	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr16:74499652T>C	ENST00000422840.2	-	19	2588	c.2589A>G	c.(2587-2589)gtA>gtG	p.V863V	Y_RNA_ENST00000384794.1_RNA|GLG1_ENST00000205061.5_Silent_p.V863V|GLG1_ENST00000447066.2_Silent_p.V852V	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	863					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GCAGCTTAAATACTTTTTGGT	0.458																																						uc002fcy.3		NA																	0				ovary(1)|breast(1)	2						c.(2587-2589)GTA>GTG		golgi apparatus protein 1 isoform 3							184.0	175.0	178.0					16																	74499652		2198	4300	6498	SO:0001819	synonymous_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74499652T>C		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.2589A>G	16.37:g.74499652T>C						GLG1_uc002fcx.2_Silent_p.V863V|GLG1_uc002fcw.3_Silent_p.V852V|GLG1_uc002fcz.3_Silent_p.V280V	p.V863V	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN			19	2639	-			863			Cys-rich GLG1 13.|Extracellular (Potential).		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Silent	SNP	ENST00000422840.2	37	c.2589A>G	CCDS45527.1																																																																																				0.458	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		65	194	0	0	0	0	65	194				
ABR	29	broad.mit.edu	37	17	1028566	1028566	+	Silent	SNP	G	G	A	rs143549153	byFrequency	TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:1028566G>A	ENST00000302538.5	-	2	344	c.198C>T	c.(196-198)ggC>ggT	p.G66G	ABR_ENST00000544583.2_Silent_p.G20G|ABR_ENST00000574437.1_Silent_p.G20G	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	66					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CATCCCCCCCGCCCTGGCTGC	0.672													g|||	18	0.00359425	0.0106	0.0014	5008	,	,		11999	0.0		0.001	False		,,,				2504	0.002				Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(196-198)GGC>GGT		active breakpoint cluster region-related		A	,	51,4355	52.3+/-87.9	0,51,2152	67.0	67.0	67.0		60,198	-6.6	0.4	17	dbSNP_134	67	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous,coding-synonymous	ABR	NM_001159746.1,NM_021962.2	,	0,58,6445	AA,AG,GG		0.0814,1.1575,0.4459	,	20/814,66/860	1028566	58,12948	2203	4300	6503	SO:0001819	synonymous_variant	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:1028566G>A	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.198C>T	17.37:g.1028566G>A						ABR_uc002fse.2_Silent_p.G20G|ABR_uc010cjq.1_Silent_p.G78G	p.G66G	NM_021962	NP_068781	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	2	308	-			66					B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	c.198C>T	CCDS10999.1																																																																																				0.672	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			44	49	0	0	0	0	44	49				
MYH1	4619	broad.mit.edu	37	17	10401226	10401226	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:10401226A>T	ENST00000226207.5	-	31	4284	c.4190T>A	c.(4189-4191)cTg>cAg	p.L1397Q	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1397					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACGCTGAGCCAGCTTCTTCCT	0.453																																						uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(4189-4191)CTG>CAG		myosin, heavy chain 1, skeletal muscle, adult							64.0	59.0	61.0					17																	10401226		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10401226A>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4190T>A	17.37:g.10401226A>T	ENSP00000226207:p.Leu1397Gln					uc002gml.1_Intron	p.L1397Q	NM_005963	NP_005954	P12882	MYH1_HUMAN			31	4284	-			1397			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4190T>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.136331	0.77662	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.79554	-1.28	5.65	5.65	0.86999	Myosin tail (1);	0.000000	0.34046	U	0.004314	D	0.90906	0.7142	M	0.87827	2.91	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.92229	0.5791	10	0.66056	D	0.02	.	16.1566	0.81673	1.0:0.0:0.0:0.0	.	1397	P12882	MYH1_HUMAN	Q	1397;486	ENSP00000226207:L1397Q	ENSP00000226207:L1397Q	L	-	2	0	MYH1	10341951	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.283000	0.95860	2.268000	0.75426	0.533000	0.62120	CTG		0.453	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		5	30	0	0	0	0	5	30				
AKAP10	11216	broad.mit.edu	37	17	19843030	19843030	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:19843030C>T	ENST00000225737.6	-	8	1475	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N	AKAP10_ENST00000395536.3_Missense_Mutation_p.D440N	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	440	RGS 2. {ECO:0000255|PROSITE- ProRule:PRU00171}.				blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					ACTCACTTGTCATATAAAATC	0.373																																						uc002gwo.2		NA																	0				skin(1)	1						c.(1318-1320)GAC>AAC		A-kinase anchor protein 10 precursor							104.0	101.0	102.0					17																	19843030		2203	4300	6503	SO:0001583	missense	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19843030C>T	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.1318G>A	17.37:g.19843030C>T	ENSP00000225737:p.Asp440Asn					AKAP10_uc002gwp.1_Missense_Mutation_p.D440N|AKAP10_uc010cqw.1_Missense_Mutation_p.D440N	p.D440N	NM_007202	NP_009133	O43572	AKA10_HUMAN			8	1455	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		440			RGS 2.		B2R650|Q96AJ7	Missense_Mutation	SNP	ENST00000225737.6	37	c.1318G>A	CCDS11214.1	.	.	.	.	.	.	.	.	.	.	C	36	5.752050	0.96890	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.01685	4.69	5.7	5.7	0.88788	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.05640	0.0148	N	0.17800	0.525	0.80722	D	1	D;P;D	0.89917	1.0;0.844;0.966	D;P;P	0.91635	0.999;0.801;0.862	T	0.54944	-0.8217	10	0.56958	D	0.05	.	18.822	0.92100	0.0:1.0:0.0:0.0	.	440;440;440	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	N	440	ENSP00000225737:D440N	ENSP00000225737:D440N	D	-	1	0	AKAP10	19783622	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.416000	0.80143	2.700000	0.92200	0.563000	0.77884	GAC		0.373	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		15	39	0	0	0	0	15	39				
CACNG1	786	broad.mit.edu	37	17	65050172	65050172	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:65050172T>A	ENST00000226021.3	+	2	361	c.290T>A	c.(289-291)tTc>tAc	p.F97Y		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	97					muscle contraction (GO:0006936)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transport (GO:0006810)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATCTTCGAATTCACCACTCAG	0.537																																						uc002jfu.2		NA																	0					0						c.(289-291)TTC>TAC		voltage-dependent calcium channel gamma-1	Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)						99.0	98.0	99.0					17																	65050172		2203	4300	6503	SO:0001583	missense	786				muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr17:65050172T>A	L07738	CCDS11668.1	17q24	2008-05-02				ENSG00000108878		"""Calcium channel subunits"""	1405	protein-coding gene	gene with protein product		114209		CACNLG		8395940	Standard	NM_000727		Approved		uc002jfu.3	Q06432		ENST00000226021.3:c.290T>A	17.37:g.65050172T>A	ENSP00000226021:p.Phe97Tyr						p.F97Y	NM_000727	NP_000718	Q06432	CCG1_HUMAN			2	361	+	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)		97					B2R9N3|Q14D59	Missense_Mutation	SNP	ENST00000226021.3	37	c.290T>A	CCDS11668.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.760750	0.49468	.	.	ENSG00000108878	ENST00000226021	T	0.67171	-0.25	4.38	4.38	0.52667	.	0.307435	0.25717	N	0.028775	T	0.57858	0.2082	L	0.41236	1.265	0.24242	N	0.995358	P	0.35242	0.492	B	0.42163	0.378	T	0.50136	-0.8863	10	0.02654	T	1	.	13.0513	0.58957	0.0:0.0:0.0:1.0	.	97	Q06432	CCG1_HUMAN	Y	97	ENSP00000226021:F97Y	ENSP00000226021:F97Y	F	+	2	0	CACNG1	62480634	0.997000	0.39634	1.000000	0.80357	0.959000	0.62525	2.689000	0.46993	1.729000	0.51567	0.402000	0.26972	TTC		0.537	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447039.1			29	40	0	0	0	0	29	40				
ABCA9	10350	broad.mit.edu	37	17	67045471	67045471	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:67045471G>C	ENST00000340001.4	-	3	468	c.257C>G	c.(256-258)aCt>aGt	p.T86S	ABCA9_ENST00000495634.1_Missense_Mutation_p.T86S|ABCA9_ENST00000370732.2_Missense_Mutation_p.T86S|ABCA9_ENST00000453985.2_Missense_Mutation_p.T86S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	86					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTCTTGGGTAGTTTTGGATTC	0.368																																						uc002jhu.2		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(256-258)ACT>AGT		ATP-binding cassette, sub-family A, member 9							157.0	155.0	156.0					17																	67045471		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67045471G>C	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.257C>G	17.37:g.67045471G>C	ENSP00000342216:p.Thr86Ser					ABCA9_uc010dez.2_Missense_Mutation_p.T86S|ABCA9_uc002jhv.2_Missense_Mutation_p.T86S	p.T86S	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			3	400	-	Breast(10;1.47e-12)		86					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.257C>G	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	9.858	1.195614	0.22037	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.87334	-2.24;-2.24	4.78	1.65	0.23941	.	0.187922	0.26262	N	0.025394	D	0.84552	0.5497	M	0.75777	2.31	0.09310	N	1	P;P	0.40553	0.721;0.607	B;B	0.43155	0.373;0.41	T	0.76063	-0.3096	10	0.49607	T	0.09	.	3.6546	0.08215	0.2031:0.0:0.5997:0.1972	.	86;86	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	S	86;69;86;81	ENSP00000342216:T86S;ENSP00000359767:T86S	ENSP00000342216:T86S	T	-	2	0	ABCA9	64557066	0.002000	0.14202	0.425000	0.26659	0.093000	0.18481	0.437000	0.21543	0.707000	0.31934	-0.142000	0.14014	ACT		0.368	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		31	50	0	0	0	0	31	50				
TTYH2	94015	broad.mit.edu	37	17	72209806	72209806	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:72209806T>C	ENST00000269346.4	+	1	154	c.80T>C	c.(79-81)cTg>cCg	p.L27P	TTYH2_ENST00000529107.1_5'Flank|CTD-2514K5.2_ENST00000531617.1_RNA|CTD-2514K5.2_ENST00000499670.2_RNA|CTD-2514K5.2_ENST00000532794.1_RNA	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	27						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GGCCTGCGCCTGCAGCCCGTG	0.701																																						uc002jkc.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(79-81)CTG>CCG		tweety 2 isoform 1							43.0	39.0	40.0					17																	72209806		2202	4298	6500	SO:0001583	missense	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72209806T>C		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.80T>C	17.37:g.72209806T>C	ENSP00000269346:p.Leu27Pro					TTYH2_uc010wqw.1_5'Flank|MGC16275_uc002jkb.2_5'Flank	p.L27P	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN			1	111	+			27			Extracellular (Potential).		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	c.80T>C	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.546181	0.65198	.	.	ENSG00000141540	ENST00000269346	T	0.15603	2.41	3.38	3.38	0.38709	.	0.203205	0.32204	U	0.006428	T	0.20292	0.0488	M	0.64997	1.995	0.80722	D	1	B	0.29136	0.234	B	0.33254	0.16	T	0.06232	-1.0838	10	0.72032	D	0.01	-8.4759	10.2057	0.43112	0.0:0.0:0.0:1.0	.	27	Q9BSA4	TTYH2_HUMAN	P	27	ENSP00000269346:L27P	ENSP00000269346:L27P	L	+	2	0	TTYH2	69721401	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	3.275000	0.51639	1.408000	0.46895	0.444000	0.29173	CTG		0.701	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			16	16	0	0	0	0	16	16				
QRICH2	84074	broad.mit.edu	37	17	74273270	74273270	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:74273270T>C	ENST00000262765.5	-	16	4920	c.4741A>G	c.(4741-4743)Act>Gct	p.T1581A		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1581										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ATCTCTTCAGTAGGATACAGG	0.637																																						uc002jrd.1		NA																	0				ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(4741-4743)ACT>GCT		glutamine rich 2							52.0	56.0	55.0					17																	74273270		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74273270T>C	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4741A>G	17.37:g.74273270T>C	ENSP00000262765:p.Thr1581Ala					QRICH2_uc010wsz.1_Intron|QRICH2_uc010dgw.1_Missense_Mutation_p.T425A	p.T1581A	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			16	4921	-			1581					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.4741A>G	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	T	1.651	-0.514006	0.04200	.	.	ENSG00000129646	ENST00000262765	T	0.09073	3.02	5.1	-1.18	0.09617	.	.	.	.	.	T	0.06600	0.0169	M	0.63428	1.95	0.09310	N	1	B	0.20887	0.049	B	0.17433	0.018	T	0.48031	-0.9070	9	0.06625	T	0.88	0.4091	2.9125	0.05742	0.113:0.1774:0.4589:0.2507	.	1581	Q9H0J4	QRIC2_HUMAN	A	1581	ENSP00000262765:T1581A	ENSP00000262765:T1581A	T	-	1	0	QRICH2	71784865	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.062000	0.03468	-0.365000	0.08076	0.459000	0.35465	ACT		0.637	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		27	50	0	0	0	0	27	50				
TNRC6C	57690	broad.mit.edu	37	17	76094475	76094475	+	Missense_Mutation	SNP	C	C	A	rs201817980		TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:76094475C>A	ENST00000588061.1	+	19	5085	c.4358C>A	c.(4357-4359)aCg>aAg	p.T1453K	TNRC6C_ENST00000541771.1_Missense_Mutation_p.T1453K|TNRC6C_ENST00000588847.1_Missense_Mutation_p.T1489K|TNRC6C_ENST00000335749.4_Missense_Mutation_p.T1489K|TNRC6C_ENST00000544502.1_Missense_Mutation_p.T1489K|TNRC6C_ENST00000301624.4_Missense_Mutation_p.T1453K			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1453	Silencing domain; interaction with CNOT1 and PAN3.|Sufficient for translational repression when tethered to a target mRNA.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ACCTCCCACACGCAAGCCTCT	0.527																																						uc002jud.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(4357-4359)ACG>AAG		trinucleotide repeat containing 6C isoform 2							57.0	63.0	61.0					17																	76094475		2025	4192	6217	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76094475C>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.4358C>A	17.37:g.76094475C>A	ENSP00000468647:p.Thr1453Lys					TNRC6C_uc002juf.2_Missense_Mutation_p.T1489K	p.T1453K	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		18	4958	+			1453			Sufficient for translational repression when tethered to a target mRNA.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.4358C>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369404	0.82463	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.15952	2.45;2.38;2.38;2.45	5.05	5.05	0.67936	.	0.102181	0.64402	D	0.000002	T	0.37433	0.1003	L	0.50333	1.59	0.58432	D	0.999996	D;D	0.89917	1.0;0.989	D;P	0.85130	0.997;0.83	T	0.02257	-1.1187	10	0.33141	T	0.24	-11.0126	18.7482	0.91802	0.0:1.0:0.0:0.0	.	1489;1453	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	K	1453;1489;1489;1453;1453;1489	ENSP00000336783:T1489K;ENSP00000301624:T1453K;ENSP00000440310:T1453K;ENSP00000442421:T1489K	ENSP00000301624:T1453K	T	+	2	0	TNRC6C	73606070	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	4.081000	0.57627	2.487000	0.83934	0.655000	0.94253	ACG		0.527	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		11	21	1	0	4.69e-08	5.13e-08	11	21				
STARD6	147323	broad.mit.edu	37	18	51851189	51851189	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr18:51851189A>T	ENST00000581310.1	-	9	909	c.536T>A	c.(535-537)tTg>tAg	p.L179*	STARD6_ENST00000307844.3_Nonsense_Mutation_p.L179*|STARD6_ENST00000580990.2_Nonsense_Mutation_p.L55*			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	179	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TGATGGGGACAATTTTCCTCT	0.348																																						uc010xdt.1		NA																	0				ovary(1)	1						c.(535-537)TTG>TAG		START domain containing protein 6							140.0	137.0	138.0					18																	51851189		2203	4300	6503	SO:0001587	stop_gained	147323				lipid transport		lipid binding	g.chr18:51851189A>T	AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"""StAR-related lipid transfer (START) domain containing"""	18066	protein-coding gene	gene with protein product		607051	"""START domain containing 6"""			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.536T>A	18.37:g.51851189A>T	ENSP00000462349:p.Leu179*						p.L179*	NM_139171	NP_631910	P59095	STAR6_HUMAN		Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)	6	536	-			179			START.			Nonsense_Mutation	SNP	ENST00000581310.1	37	c.536T>A	CCDS11955.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.575350	0.86645	.	.	ENSG00000174448	ENST00000307844	.	.	.	5.53	5.53	0.82687	.	0.000000	0.49916	D	0.000140	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0438	0.53469	1.0:0.0:0.0:0.0	.	.	.	.	X	179	.	ENSP00000310814:L179X	L	-	2	0	STARD6	50105187	1.000000	0.71417	0.580000	0.28601	0.910000	0.53928	4.927000	0.63440	2.090000	0.63153	0.338000	0.21704	TTG		0.348	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3	NM_139171		19	32	0	0	0	0	19	32				
ZNF558	148156	broad.mit.edu	37	19	8932738	8932738	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:8932738G>T	ENST00000601372.1	-	6	772	c.61C>A	c.(61-63)Caa>Aaa	p.Q21K	ZNF558_ENST00000301475.1_Missense_Mutation_p.Q21K|ZNF558_ENST00000599938.1_5'Flank|ZNF558_ENST00000444186.2_5'Flank|CTD-2529P6.3_ENST00000594006.1_RNA			Q96NG5	ZN558_HUMAN	zinc finger protein 558	21					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TGTCCTTTTTGCTGAGAGGCT	0.522																																						uc002mkn.1		NA																	0				central_nervous_system(1)	1						c.(61-63)CAA>AAA		zinc finger protein 558							169.0	152.0	158.0					19																	8932738		2203	4300	6503	SO:0001583	missense	148156				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:8932738G>T	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.61C>A	19.37:g.8932738G>T	ENSP00000471277:p.Gln21Lys					ZNF558_uc010xkh.1_5'Flank|ZNF558_uc010dwg.1_Missense_Mutation_p.Q21K	p.Q21K	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN			2	291	-			21					A8K5F0|B7Z798	Missense_Mutation	SNP	ENST00000601372.1	37	c.61C>A	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	G	9.728	1.161436	0.21538	.	.	ENSG00000167785	ENST00000301475	T	0.05786	3.39	3.09	-0.708	0.11241	.	.	.	.	.	T	0.02970	0.0088	N	0.14661	0.345	0.09310	N	1	B	0.18461	0.028	B	0.09377	0.004	T	0.48293	-0.9048	9	0.09084	T	0.74	-1.5387	6.02	0.19625	0.0:0.4227:0.3789:0.1984	.	21	Q96NG5	ZN558_HUMAN	K	21	ENSP00000301475:Q21K	ENSP00000301475:Q21K	Q	-	1	0	ZNF558	8793738	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	0.483000	0.22292	-0.016000	0.14127	0.591000	0.81541	CAA		0.522	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693		3	70	1	0	0.00024832	0.000258733	3	70				
DNMT1	1786	broad.mit.edu	37	19	10249209	10249209	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:10249209G>A	ENST00000340748.4	-	34	4208	c.3973C>T	c.(3973-3975)Cct>Tct	p.P1325S	DNMT1_ENST00000359526.4_Missense_Mutation_p.P1341S|DNMT1_ENST00000589538.1_5'Flank|DNMT1_ENST00000540357.1_Missense_Mutation_p.P1325S			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1325	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GGGAACAGAGGGAGCTTCTCT	0.637																																						uc002mng.2		NA																	0				ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6						c.(3973-3975)CCT>TCT		DNA (cytosine-5-)-methyltransferase 1 isoform b	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						55.0	51.0	52.0					19																	10249209		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10249209G>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3973C>T	19.37:g.10249209G>A	ENSP00000345739:p.Pro1325Ser					DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Missense_Mutation_p.P249S|DNMT1_uc010xlc.1_Missense_Mutation_p.P1341S|DNMT1_uc002mnh.2_Missense_Mutation_p.P1220S|DNMT1_uc010xld.1_Missense_Mutation_p.P1325S	p.P1325S	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		34	4153	-			1325			Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.3973C>T	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.708156	0.68615	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.46819	0.86;0.86;0.86	5.55	5.55	0.83447	.	0.051938	0.85682	D	0.000000	T	0.72755	0.3500	M	0.84846	2.72	0.80722	D	1	D;D;D	0.69078	0.996;0.996;0.997	D;D;D	0.71414	0.954;0.954;0.973	T	0.77227	-0.2665	10	0.87932	D	0	.	18.2551	0.90017	0.0:0.0:1.0:0.0	.	1325;1341;1325	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	S	1341;1325;1325;1193	ENSP00000352516:P1341S;ENSP00000440457:P1325S;ENSP00000345739:P1325S	ENSP00000345739:P1325S	P	-	1	0	DNMT1	10110209	1.000000	0.71417	0.818000	0.32626	0.019000	0.09904	7.592000	0.82676	2.607000	0.88179	0.655000	0.94253	CCT		0.637	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		10	39	0	0	0	0	10	39				
KEAP1	9817	broad.mit.edu	37	19	10600446	10600446	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:10600446C>T	ENST00000171111.5	-	4	1956	c.1409G>A	c.(1408-1410)cGt>cAt	p.R470H	KEAP1_ENST00000393623.2_Missense_Mutation_p.R470H|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	470					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	ATAAAGGAGACGATTGAGGAC	0.562																																						uc002moq.1		NA																	0				lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(1408-1410)CGT>CAT		kelch-like ECH-associated protein 1							75.0	62.0	66.0					19																	10600446		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10600446C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1409G>A	19.37:g.10600446C>T	ENSP00000171111:p.Arg470His					KEAP1_uc002mop.1_Missense_Mutation_p.R188H|KEAP1_uc002mor.1_Missense_Mutation_p.R470H	p.R470H	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		4	1565	-			470			Kelch 3.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1409G>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520859	0.64747	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.77229	-1.08;-1.08	5.79	5.79	0.91817	Kelch-type beta propeller (1);	0.055235	0.64402	D	0.000001	D	0.85212	0.5645	L	0.49699	1.58	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	D	0.85636	0.1273	10	0.66056	D	0.02	.	17.5827	0.87973	0.0:1.0:0.0:0.0	.	470	Q14145	KEAP1_HUMAN	H	470	ENSP00000171111:R470H;ENSP00000377245:R470H	ENSP00000171111:R470H	R	-	2	0	KEAP1	10461446	1.000000	0.71417	0.985000	0.45067	0.137000	0.21094	5.775000	0.68915	2.752000	0.94435	0.558000	0.71614	CGT		0.562	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		15	20	0	0	0	0	15	20				
PLPPR2	64748	broad.mit.edu	37	19	11470232	11470232	+	Silent	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:11470232C>T	ENST00000251473.5	+	4	467	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	DKFZP761J1410_ENST00000591608.1_Intron|DKFZP761J1410_ENST00000586431.1_3'UTR	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CATTGTGATCCTGCTTGCTTA	0.612																																						uc002mre.1		NA																	0				large_intestine(1)	1						c.(91-93)CTG>TTG		lipid phosphate phosphatase-related protein type							114.0	84.0	94.0					19																	11470232		2203	4300	6503	SO:0001819	synonymous_variant	64748					integral to membrane	phosphatidate phosphatase activity	g.chr19:11470232C>T																												ENST00000251473.5:c.91C>T	19.37:g.11470232C>T						LPPR2_uc002mrf.1_Intron|LPPR2_uc010dxy.1_5'Flank	p.L31L	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN			4	428	+			31			Helical; (Potential).			Silent	SNP	ENST00000251473.5	37	c.91C>T	CCDS12258.1																																																																																				0.612	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			14	20	0	0	0	0	14	20				
ZNF101	94039	broad.mit.edu	37	19	19790752	19790752	+	Silent	SNP	C	C	G	rs371722187		TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:19790752C>G	ENST00000592502.1	+	4	1064	c.954C>G	c.(952-954)gtC>gtG	p.V318V	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Silent_p.V198V			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	318					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)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GTGCCAAAGTCTTTAGATGTC	0.398																																						uc002nni.1		NA																	0				ovary(2)	2						c.(952-954)GTC>GTG		zinc finger protein 101							55.0	54.0	54.0					19																	19790752		2203	4300	6503	SO:0001819	synonymous_variant	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790752C>G	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.954C>G	19.37:g.19790752C>G						ZNF101_uc010ecg.1_Silent_p.V198V|ZNF101_uc002nnj.1_Silent_p.V198V	p.V318V	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN			4	1064	+			318			C2H2-type 7.		C9JU83|Q0VDG9	Silent	SNP	ENST00000592502.1	37	c.954C>G	CCDS32971.1																																																																																				0.398	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		23	21	0	0	0	0	23	21				
ZNF708	7562	broad.mit.edu	37	19	21477105	21477105	+	Silent	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:21477105C>T	ENST00000356929.3	-	4	860	c.663G>A	c.(661-663)gaG>gaA	p.E221E		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TGTAGGGTTTCTCTCCAGTAT	0.343																																						uc002npq.1		NA																	0				central_nervous_system(4)|skin(2)	6						c.(661-663)GAG>GAA		zinc finger protein 708							42.0	45.0	44.0					19																	21477105		2198	4292	6490	SO:0001819	synonymous_variant	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21477105C>T	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.663G>A	19.37:g.21477105C>T						ZNF708_uc002npr.1_Silent_p.E157E|ZNF708_uc010ecs.1_Silent_p.E157E	p.E221E	NM_021269	NP_067092	P17019	ZN708_HUMAN			4	861	-			221					Q6ZMR0	Silent	SNP	ENST00000356929.3	37	c.663G>A	CCDS32980.1																																																																																				0.343	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		5	26	0	0	0	0	5	26				
ZNF99	7652	broad.mit.edu	37	19	22941528	22941528	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:22941528T>G	ENST00000596209.1	-	4	1273	c.1183A>C	c.(1183-1185)Aaa>Caa	p.K395Q	ZNF99_ENST00000397104.3_Missense_Mutation_p.K304Q	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	395					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)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGTAGGGTTTCTGTCCAGTA	0.363																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(910-912)AAA>CAA		zinc finger protein 99							67.0	73.0	71.0					19																	22941528		2035	4221	6256	SO:0001583	missense	7652							g.chr19:22941528T>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1183A>C	19.37:g.22941528T>G	ENSP00000472969:p.Lys395Gln						p.K304Q	NM_001080409	NP_001073878					5	910	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.910A>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	14.36	2.511014	0.44660	.	.	ENSG00000213973	ENST00000397104	T	0.27104	1.69	1.28	1.28	0.21552	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44891	0.1315	M	0.74258	2.255	0.31757	N	0.633881	D	0.65815	0.995	D	0.68483	0.958	T	0.51733	-0.8668	9	0.87932	D	0	.	7.4893	0.27452	0.0:0.0:0.0:1.0	.	304	A8MXY4	ZNF99_HUMAN	Q	304	ENSP00000380293:K304Q	ENSP00000380293:K304Q	K	-	1	0	ZNF99	22733368	0.298000	0.24417	0.020000	0.16555	0.138000	0.21146	3.856000	0.55964	0.566000	0.29273	0.325000	0.21440	AAA		0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		8	45	0	0	0	0	8	45				
PPP1R15A	23645	broad.mit.edu	37	19	49379062	49379062	+	Silent	SNP	C	C	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:49379062C>G	ENST00000200453.5	+	3	2126	c.1857C>G	c.(1855-1857)ctC>ctG	p.L619L		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	619					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GGGCACGCCTCAGGAACCCAC	0.687																																						uc002pky.3		NA																	0				lung(1)	1						c.(1855-1857)CTC>CTG		protein phosphatase 1, regulatory subunit 15A							141.0	154.0	149.0					19																	49379062		2203	4300	6503	SO:0001819	synonymous_variant	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49379062C>G	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1857C>G	19.37:g.49379062C>G							p.L619L	NM_014330	NP_055145	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	3	2126	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	619					B4DKQ3|Q6IA96|Q9NVU6	Silent	SNP	ENST00000200453.5	37	c.1857C>G	CCDS12738.1																																																																																				0.687	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		107	132	0	0	0	0	107	132				
ZNF347	84671	broad.mit.edu	37	19	53644812	53644812	+	Silent	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:53644812G>A	ENST00000334197.7	-	5	1337	c.1269C>T	c.(1267-1269)caC>caT	p.H423H	ZNF347_ENST00000601469.2_Silent_p.H424H|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Silent_p.H424H	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TCTCTCCAGTGTGAATTCTCC	0.428																																					Melanoma(64;205 1597 17324 45721)	uc002qbb.1		NA																	0					0						c.(1267-1269)CAC>CAT		zinc finger protein 347							115.0	117.0	116.0					19																	53644812		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644812G>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1269C>T	19.37:g.53644812G>A						ZNF347_uc010eql.1_Silent_p.H424H|ZNF347_uc002qbc.1_Silent_p.H424H	p.H423H	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1338	-			423			C2H2-type 6.		B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1269C>T	CCDS33097.1																																																																																				0.428	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		46	57	0	0	0	0	46	57				
LILRA3	11026	broad.mit.edu	37	19	54802685	54802685	+	Silent	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:54802685G>A	ENST00000251390.3	-	5	847	c.756C>T	c.(754-756)taC>taT	p.Y252Y	LILRA3_ENST00000391745.1_Silent_p.Y269Y|LILRA3_ENST00000391744.3_Silent_p.Y188Y	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	252	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAAATCTGTCGTAGCCGGCAT	0.627																																						uc002qfd.2		NA																	0				ovary(1)	1						c.(754-756)TAC>TAT		leukocyte immunoglobulin-like receptor,							66.0	60.0	62.0					19																	54802685		2193	4166	6359	SO:0001819	synonymous_variant	11026				defense response	extracellular region|plasma membrane	antigen binding|receptor activity	g.chr19:54802685G>A	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.756C>T	19.37:g.54802685G>A						LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Silent_p.Y188Y	p.Y252Y	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	821	-	Ovarian(34;0.19)		252			Ig-like C2-type 3.		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Silent	SNP	ENST00000251390.3	37	c.756C>T	CCDS12887.1																																																																																				0.627	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			5	49	0	0	0	0	5	49				
LILRA3	11026	broad.mit.edu	37	19	54802692	54802692	+	Missense_Mutation	SNP	G	G	A	rs199831670	byFrequency	TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:54802692G>A	ENST00000251390.3	-	5	840	c.749C>T	c.(748-750)gCc>gTc	p.A250V	LILRA3_ENST00000391745.1_Missense_Mutation_p.A267V|LILRA3_ENST00000391744.3_Missense_Mutation_p.A186V	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	250	Ig-like C2-type 3.			A -> T (in Ref. 6; AAM18037). {ECO:0000305}.	defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTCGTAGCCGGCATCAGAGCC	0.612																																						uc002qfd.2		NA																	0				ovary(1)	1						c.(748-750)GCC>GTC		leukocyte immunoglobulin-like receptor,		A	VAL/ALA,VAL/ALA	0,4386		0,0,2193	66.0	60.0	62.0		557,749	-4.1	0.0	19		62	7,8313		0,7,4153	no	missense,missense	LILRA3	NM_001172654.1,NM_006865.3	64,64	0,7,6346	AA,AG,GG		0.0841,0.0,0.0551	,	186/376,250/440	54802692	7,12699	2193	4160	6353	SO:0001583	missense	11026				defense response	extracellular region|plasma membrane	antigen binding|receptor activity	g.chr19:54802692G>A	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.749C>T	19.37:g.54802692G>A	ENSP00000251390:p.Ala250Val					LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.A186V	p.A250V	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	814	-	Ovarian(34;0.19)		250	A -> T (in Ref. 4; AAM18037).		Ig-like C2-type 3.		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.749C>T	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	g	0.010	-1.780878	0.00634	0.0	8.41E-4	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.12672	2.66;2.66;2.66	2.03	-4.05	0.03998	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.581811	0.14052	N	0.344695	T	0.02267	0.0070	N	0.00514	-1.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.15052	0.012;0.002	T	0.36016	-0.9765	10	0.02654	T	1	.	6.749	0.23477	0.6142:0.0:0.3858:0.0	.	250;250	E7EU74;Q8N6C8	.;LIRA3_HUMAN	V	250;186;267	ENSP00000251390:A250V;ENSP00000375624:A186V;ENSP00000375625:A267V	ENSP00000251390:A250V	A	-	2	0	LILRA3	59494504	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.573000	0.00912	-0.949000	0.03663	-1.393000	0.01150	GCC		0.612	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			4	51	0	0	0	0	4	51				
NRBP1	29959	broad.mit.edu	37	2	27662654	27662654	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:27662654C>T	ENST00000233557.3	+	12	1757	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	KRTCAP3_ENST00000543753.1_5'Flank|KRTCAP3_ENST00000407293.1_5'Flank|KRTCAP3_ENST00000288873.3_5'Flank|NRBP1_ENST00000379863.3_Nonsense_Mutation_p.Q317*|NRBP1_ENST00000379852.3_Nonsense_Mutation_p.Q309*			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	309	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					AAAGTGCCTGCAGTCTGAGCC	0.502																																						uc002rko.2		NA																	0				ovary(2)|lung(1)	3						c.(925-927)CAG>TAG		nuclear receptor binding protein							152.0	157.0	155.0					2																	27662654		2203	4300	6503	SO:0001587	stop_gained	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27662654C>T	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.925C>T	2.37:g.27662654C>T	ENSP00000233557:p.Gln309*					NRBP1_uc002rkq.2_Nonsense_Mutation_p.Q308*|NRBP1_uc002rkp.2_Nonsense_Mutation_p.Q309*|NRBP1_uc002rkr.2_Nonsense_Mutation_p.Q100*|KRTCAP3_uc002rks.2_5'Flank|KRTCAP3_uc010ylr.1_5'Flank|KRTCAP3_uc002rkt.2_5'Flank	p.Q309*	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN			12	1757	+	Acute lymphoblastic leukemia(172;0.155)		309			Protein kinase.		B3KV40|D6W558|Q53FZ5|Q96SU3	Nonsense_Mutation	SNP	ENST00000233557.3	37	c.925C>T	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	C	44	11.248803	0.99537	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	.	.	.	5.53	5.53	0.82687	.	0.100057	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-6.4707	13.1296	0.59373	0.0:0.7365:0.2635:0.0	.	.	.	.	X	309;289;309;317	.	ENSP00000233557:Q309X	Q	+	1	0	NRBP1	27516158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.678000	0.61641	2.610000	0.88304	0.655000	0.94253	CAG		0.502	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		18	133	0	0	0	0	18	133				
ABCG8	64241	broad.mit.edu	37	2	44104782	44104782	+	Nonsense_Mutation	SNP	T	T	A	rs147582834	byFrequency	TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:44104782T>A	ENST00000272286.2	+	12	1929	c.1839T>A	c.(1837-1839)taT>taA	p.Y613*		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	613	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GAAGAACTTATAAAATGCCTC	0.522											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002rtq.2		NA																	0				skin(3)|ovary(1)	4						c.(1837-1839)TAT>TAA		ATP-binding cassette sub-family G member 8							102.0	104.0	104.0					2																	44104782		2203	4300	6503	SO:0001587	stop_gained	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44104782T>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1839T>A	2.37:g.44104782T>A	ENSP00000272286:p.Tyr613*		OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921	ABCG8_uc010yoa.1_Nonsense_Mutation_p.Y612*	p.Y613*	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			12	1929	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	613			ABC transmembrane type-2.|Extracellular (Potential).		Q53QN8	Nonsense_Mutation	SNP	ENST00000272286.2	37	c.1839T>A	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077337	0.76415	.	.	ENSG00000143921	ENST00000272286	.	.	.	5.08	-7.27	0.01461	.	0.333265	0.32753	N	0.005690	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8071	0.85708	0.0155:0.5948:0.0:0.3897	.	.	.	.	X	613	.	ENSP00000272286:Y613X	Y	+	3	2	ABCG8	43958286	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.985000	0.03751	-1.480000	0.01865	0.482000	0.46254	TAT		0.522	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		39	33	0	0	0	0	39	33				
ABCG8	64241	broad.mit.edu	37	2	44104784	44104784	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:44104784A>T	ENST00000272286.2	+	12	1931	c.1841A>T	c.(1840-1842)aAa>aTa	p.K614I		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	614	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	AGAACTTATAAAATGCCTCTC	0.517											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002rtq.2		NA																	0				skin(3)|ovary(1)	4						c.(1840-1842)AAA>ATA		ATP-binding cassette sub-family G member 8							101.0	103.0	102.0					2																	44104784		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44104784A>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1841A>T	2.37:g.44104784A>T	ENSP00000272286:p.Lys614Ile		OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921	ABCG8_uc010yoa.1_Missense_Mutation_p.K613I	p.K614I	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			12	1931	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	614			ABC transmembrane type-2.|Extracellular (Potential).		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.1841A>T	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.349669	0.24426	.	.	ENSG00000143921	ENST00000272286	D	0.88509	-2.39	5.08	-9.46	0.00597	.	2.059850	0.01687	N	0.026471	T	0.79569	0.4468	L	0.36672	1.1	0.09310	N	1	B;B	0.33477	0.413;0.29	B;B	0.30105	0.111;0.052	T	0.68217	-0.5467	10	0.33940	T	0.23	.	7.6133	0.28144	0.1894:0.5852:0.0609:0.1644	.	613;614	Q9H221-2;Q9H221	.;ABCG8_HUMAN	I	614	ENSP00000272286:K614I	ENSP00000272286:K614I	K	+	2	0	ABCG8	43958288	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.016000	0.12613	-1.016000	0.03371	-0.326000	0.08463	AAA		0.517	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		40	32	0	0	0	0	40	32				
EGR4	1961	broad.mit.edu	37	2	73518918	73518918	+	Silent	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:73518918G>A	ENST00000545030.1	-	2	1511	c.1437C>T	c.(1435-1437)caC>caT	p.H479H	EGR4_ENST00000436467.2_Silent_p.H376H	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	479					cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGGCCTTGGCGTGCGGCCGCG	0.716																																						uc010yrj.1		NA																	0					0						c.(1435-1437)CAC>CAT		early growth response 4							17.0	17.0	17.0					2																	73518918		2200	4297	6497	SO:0001819	synonymous_variant	1961					intracellular	nucleic acid binding|zinc ion binding	g.chr2:73518918G>A		CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"""Zinc fingers, C2H2-type"""	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.1437C>T	2.37:g.73518918G>A						EGR4_uc010yrk.1_Silent_p.H478H	p.H479H	NM_001965	NP_001956	Q05215	EGR4_HUMAN			2	1512	-			375					B2RAE3|G3V1T5|Q2Z1P5	Silent	SNP	ENST00000545030.1	37	c.1437C>T	CCDS1925.2																																																																																				0.716	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965		5	14	0	0	0	0	5	14				
THSD7B	80731	broad.mit.edu	37	2	137814025	137814025	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:137814025G>A	ENST00000409968.1	+	3	353	c.175G>A	c.(175-177)Gga>Aga	p.G59R	THSD7B_ENST00000543459.1_5'Flank|THSD7B_ENST00000272643.3_Missense_Mutation_p.G59R|THSD7B_ENST00000413152.2_Missense_Mutation_p.G28R			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	59	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGTGGTCCCGGAGGAGTCCA	0.493																																						uc002tva.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(82-84)GGA>AGA		thrombospondin, type I, domain containing 7B							61.0	64.0	63.0					2																	137814025		1984	4167	6151	SO:0001583	missense	80731							g.chr2:137814025G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.175G>A	2.37:g.137814025G>A	ENSP00000387145:p.Gly59Arg					THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR	p.G28R	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	2	82	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.82G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.107042	0.94292	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.32988	1.83;1.69;1.43	5.89	5.89	0.94794	.	0.083264	0.46442	U	0.000295	T	0.54775	0.1879	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.51841	-0.8654	10	0.66056	D	0.02	.	19.8459	0.96707	0.0:0.0:1.0:0.0	.	28	C9JKN6	.	R	59;59;28	ENSP00000387145:G59R;ENSP00000272643:G59R;ENSP00000413841:G28R	ENSP00000272643:G59R	G	+	1	0	THSD7B	137530495	1.000000	0.71417	0.203000	0.23512	0.974000	0.67602	8.061000	0.89467	2.788000	0.95919	0.585000	0.79938	GGA		0.493	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		16	30	0	0	0	0	16	30				
RIF1	55183	broad.mit.edu	37	2	152311418	152311418	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:152311418G>A	ENST00000243326.5	+	21	2837	c.2354G>A	c.(2353-2355)aGa>aAa	p.R785K	RIF1_ENST00000430328.2_Missense_Mutation_p.R785K|RIF1_ENST00000444746.2_Missense_Mutation_p.R785K|RIF1_ENST00000428287.2_Missense_Mutation_p.R785K|RIF1_ENST00000453091.2_Missense_Mutation_p.R785K			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCACCACAGAGACCTTCAGAT	0.318																																						uc002txm.2		NA																	0				ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(2353-2355)AGA>AAA		RAP1 interacting factor 1							39.0	39.0	39.0					2																	152311418		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152311418G>A	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.2354G>A	2.37:g.152311418G>A	ENSP00000243326:p.Arg785Lys					RIF1_uc002txl.2_Missense_Mutation_p.R785K|RIF1_uc010fnv.1_Missense_Mutation_p.R749K|RIF1_uc002txn.2_Missense_Mutation_p.R785K|RIF1_uc002txo.2_Missense_Mutation_p.R785K	p.R785K	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	22	2484	+			785					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.2354G>A	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	G	8.120	0.780731	0.16120	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	D;D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05;-5.05	5.65	2.93	0.34026	.	0.100443	0.64402	D	0.000002	D	0.96442	0.8839	L	0.57536	1.79	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	D	0.92238	0.5798	10	0.30078	T	0.28	-9.807	7.5633	0.27864	0.1869:0.4342:0.3789:0.0	.	785;785	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	K	785	ENSP00000390181:R785K;ENSP00000414615:R785K;ENSP00000415691:R785K;ENSP00000243326:R785K;ENSP00000416123:R785K	ENSP00000243326:R785K	R	+	2	0	RIF1	152019664	1.000000	0.71417	0.881000	0.34555	0.935000	0.57460	3.868000	0.56055	0.349000	0.23975	-0.794000	0.03295	AGA		0.318	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			6	34	0	0	0	0	6	34				
PDE1A	5136	broad.mit.edu	37	2	183066183	183066183	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:183066183C>T	ENST00000410103.1	-	11	1239	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	PDE1A_ENST00000331935.6_Missense_Mutation_p.E386K|PDE1A_ENST00000536095.1_Missense_Mutation_p.E282K|PDE1A_ENST00000358139.2_Missense_Mutation_p.E386K|PDE1A_ENST00000346717.4_Missense_Mutation_p.E352K|PDE1A_ENST00000409365.1_Missense_Mutation_p.E370K|PDE1A_ENST00000456212.1_Missense_Mutation_p.E386K|PDE1A_ENST00000351439.5_Missense_Mutation_p.E370K|PDE1A_ENST00000435564.1_Missense_Mutation_p.E386K	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	386	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AAAAACTCCTCCATTAGGGCC	0.483																																						uc002uos.2		NA																	0				skin(2)|ovary(1)	3						c.(1156-1158)GAG>AAG		phosphodiesterase 1A isoform 2							151.0	153.0	152.0					2																	183066183		2203	4300	6503	SO:0001583	missense	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183066183C>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1156G>A	2.37:g.183066183C>T	ENSP00000387037:p.Glu386Lys					PDE1A_uc010zfp.1_Missense_Mutation_p.E282K|PDE1A_uc002uoq.1_Missense_Mutation_p.E386K|PDE1A_uc010zfq.1_Missense_Mutation_p.E386K|PDE1A_uc002uor.2_Missense_Mutation_p.E370K|PDE1A_uc002uou.2_Missense_Mutation_p.E352K	p.E386K	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		11	1240	-			386			Catalytic (By similarity).		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.1156G>A	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102194	0.94245	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	5.12	5.12	0.69794	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.107847	0.64402	D	0.000008	D	0.90765	0.7101	M	0.86097	2.795	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.992;0.998;0.996	D;D;D;D;D	0.91635	0.991;0.999;0.968;0.979;0.985	D	0.92316	0.5862	10	0.87932	D	0	.	17.5219	0.87790	0.0:1.0:0.0:0.0	.	282;352;386;370;386	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	K	386;352;282;370;386;370;386;386;386	ENSP00000410309:E386K;ENSP00000329112:E352K;ENSP00000439938:E282K;ENSP00000386767:E370K;ENSP00000331574:E386K;ENSP00000309269:E370K;ENSP00000387037:E386K;ENSP00000350858:E386K;ENSP00000408874:E386K	ENSP00000331574:E386K	E	-	1	0	PDE1A	182774428	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.704000	0.84595	2.348000	0.79779	0.655000	0.94253	GAG		0.483	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			35	40	0	0	0	0	35	40				
HECW2	57520	broad.mit.edu	37	2	197138837	197138837	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:197138837T>A	ENST00000260983.3	-	16	3328	c.3146A>T	c.(3145-3147)gAt>gTt	p.D1049V	HECW2_ENST00000409111.1_Missense_Mutation_p.D693V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1049	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATGTCGAGAATCTTCTCCTAC	0.448																																						uc002utm.1		NA																	0				skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(3145-3147)GAT>GTT		HECT, C2 and WW domain containing E3 ubiquitin							286.0	221.0	243.0					2																	197138837		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197138837T>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3146A>T	2.37:g.197138837T>A	ENSP00000260983:p.Asp1049Val					HECW2_uc002utl.1_Missense_Mutation_p.D693V	p.D1049V	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			16	3329	-			1049			Interaction with TP73.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.3146A>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.770016	0.31320	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.82803	-1.65;-1.65	5.45	5.45	0.79879	.	0.570852	0.19679	N	0.108559	D	0.82972	0.5153	L	0.31207	0.915	0.80722	D	1	D	0.71674	0.998	P	0.62649	0.905	T	0.77718	-0.2483	10	0.10377	T	0.69	.	14.2393	0.65948	0.0:0.0:0.0:1.0	.	1049	Q9P2P5	HECW2_HUMAN	V	693;1049	ENSP00000386775:D693V;ENSP00000260983:D1049V	ENSP00000260983:D1049V	D	-	2	0	HECW2	196847082	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.508000	0.81686	2.288000	0.76882	0.533000	0.62120	GAT		0.448	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		14	15	0	0	0	0	14	15				
CARF	79800	broad.mit.edu	37	2	203817391	203817391	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:203817391A>G	ENST00000402905.3	+	5	737	c.416A>G	c.(415-417)aAt>aGt	p.N139S	CARF_ENST00000444724.1_Missense_Mutation_p.N139S|CARF_ENST00000456821.2_Missense_Mutation_p.N127S|CARF_ENST00000545262.1_Missense_Mutation_p.N63S|CARF_ENST00000414439.1_Missense_Mutation_p.N37S|CARF_ENST00000320443.8_Missense_Mutation_p.N139S|CARF_ENST00000428585.1_Missense_Mutation_p.N63S|CARF_ENST00000438828.2_Missense_Mutation_p.N139S|CARF_ENST00000434998.1_Missense_Mutation_p.N37S|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000545253.1_Missense_Mutation_p.N51S|WDR12_ENST00000477723.1_Intron	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	139					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GTGGATGTGAATAGTCCTCGG	0.418																																						uc002uzo.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(415-417)AAT>AGT		amyotrophic lateral sclerosis 2 (juvenile)							130.0	116.0	120.0					2																	203817391		1847	4101	5948	SO:0001583	missense	79800							g.chr2:203817391A>G	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.416A>G	2.37:g.203817391A>G	ENSP00000384006:p.Asn139Ser					ALS2CR8_uc002uzn.2_Missense_Mutation_p.N37S|ALS2CR8_uc002uzm.2_Missense_Mutation_p.N139S|ALS2CR8_uc010zhy.1_Missense_Mutation_p.N139S|ALS2CR8_uc010zhz.1_RNA|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.N63S|ALS2CR8_uc010zib.1_Missense_Mutation_p.N63S|ALS2CR8_uc010zic.1_Missense_Mutation_p.N51S|ALS2CR8_uc002uzp.2_Missense_Mutation_p.N139S	p.N139S	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN			5	696	+			139					B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.416A>G	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	A	0.544	-0.852292	0.02651	.	.	ENSG00000138380	ENST00000402905;ENST00000444724;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000447539;ENST00000456821;ENST00000434998;ENST00000320443;ENST00000438828	.	.	.	5.04	-4.94	0.03057	.	0.562925	0.17753	N	0.163142	T	0.23688	0.0573	L	0.54323	1.7	0.09310	N	1	B;B;B;B;B	0.10296	0.003;0.003;0.002;0.003;0.001	B;B;B;B;B	0.12156	0.004;0.007;0.005;0.004;0.003	T	0.39742	-0.9599	9	0.07482	T	0.82	0.2201	3.0871	0.06281	0.228:0.3323:0.338:0.1017	.	51;63;139;139;139	B4DIA7;G3V1K7;B4DRP6;Q8N187;F6SXV3	.;.;.;AL2S8_HUMAN;.	S	139;139;37;63;51;63;63;127;37;139;139	.	ENSP00000316224:N139S	N	+	2	0	ALS2CR8	203525636	0.014000	0.17966	0.001000	0.08648	0.286000	0.27126	0.115000	0.15540	-0.697000	0.05092	-0.691000	0.03719	AAT		0.418	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		30	38	0	0	0	0	30	38				
ADAM33	80332	broad.mit.edu	37	20	3654911	3654911	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr20:3654911C>A	ENST00000356518.2	-	7	862	c.621G>T	c.(619-621)agG>agT	p.R207S	ADAM33_ENST00000466620.1_5'Flank|ADAM33_ENST00000379861.4_Missense_Mutation_p.R207S|ADAM33_ENST00000350009.2_Missense_Mutation_p.R207S	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	207					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						ACTTCCGGGTCCTGCGCGCTT	0.642																																						uc002wit.2		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(619-621)AGG>AGT		ADAM metallopeptidase domain 33 isoform alpha							59.0	57.0	58.0					20																	3654911		2203	4300	6503	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3654911C>A	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.621G>T	20.37:g.3654911C>A	ENSP00000348912:p.Arg207Ser					ADAM33_uc002wir.1_Missense_Mutation_p.R207S|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.R207S|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Missense_Mutation_p.R130S|ADAM33_uc010zqg.1_Missense_Mutation_p.R219S|ADAM33_uc010zqh.1_Missense_Mutation_p.R207S	p.R207S	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN			7	708	-			207			Extracellular (Potential).		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.621G>T	CCDS13058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.92|11.92	1.781919|1.781919	0.31502|0.31502	.|.	.|.	ENSG00000149451|ENSG00000149451	ENST00000444535|ENST00000356518;ENST00000379861;ENST00000350009;ENST00000360630;ENST00000439201;ENST00000322570	.|T;T;T	.|0.01474	.|4.86;4.85;4.89	5.37|5.37	2.36|2.36	0.29203|0.29203	.|Metallopeptidase, catalytic domain (1);	.|.	.|.	.|.	.|.	T|T	0.02380|0.02380	0.0073|0.0073	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	.|P;P;B;P;P;P	.|0.51653	.|0.947;0.749;0.038;0.72;0.598;0.598	.|P;B;B;B;B;B	.|0.48795	.|0.59;0.112;0.01;0.149;0.071;0.071	T|T	0.52313|0.52313	-0.8592|-0.8592	6|9	0.87932|0.33940	D|T	0|0.23	.|.	7.9393|7.9393	0.29948|0.29948	0.0:0.7191:0.1325:0.1484|0.0:0.7191:0.1325:0.1484	.|.	.|207;219;130;207;207;207	.|B4DTZ3;B4E1Y6;Q7Z7E1;Q9BZ11-2;Q9BZ11;A2A2L3	.|.;.;.;.;ADA33_HUMAN;.	V|S	157|207;207;207;130;207;130	.|ENSP00000348912:R207S;ENSP00000369190:R207S;ENSP00000322550:R207S	ENSP00000404681:G157V|ENSP00000318839:R130S	G|R	-|-	2|3	0|2	ADAM33|ADAM33	3602911|3602911	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.022000|0.022000	0.10575|0.10575	1.697000|1.697000	0.37784|0.37784	0.340000|0.340000	0.23745|0.23745	-0.251000|-0.251000	0.11542|0.11542	GGA|AGG		0.642	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		17	49	1	0	2.23e-06	2.4e-06	17	49				
DEFB115	245929	broad.mit.edu	37	20	29847327	29847327	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr20:29847327G>C	ENST00000400552.1	+	2	159	c.159G>C	c.(157-159)gaG>gaC	p.E53D		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	53					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			AAGAAATTGAGAGGAAGAAAG	0.353																																						uc002wvp.1		NA																	0				ovary(1)	1						c.(157-159)GAG>GAC		beta-defensin 115 precursor							88.0	84.0	85.0					20																	29847327		1840	4093	5933	SO:0001583	missense	245929				defense response to bacterium	extracellular region		g.chr20:29847327G>C	DQ012019	CCDS42859.1	20q11.1	2008-07-17			ENSG00000215547	ENSG00000215547		"""Defensins, beta"""	18096	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037730		Approved	DEFB-15	uc002wvp.1	Q30KQ5	OTTHUMG00000159284	ENST00000400552.1:c.159G>C	20.37:g.29847327G>C	ENSP00000383398:p.Glu53Asp						p.E53D	NM_001037730	NP_001032819	Q30KQ5	DB115_HUMAN	Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)		2	159	+			53						Missense_Mutation	SNP	ENST00000400552.1	37	c.159G>C	CCDS42859.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723188	0.30503	.	.	ENSG00000215547	ENST00000400552	T	0.63096	-0.02	3.05	2.09	0.27110	.	.	.	.	.	T	0.73536	0.3599	.	.	.	0.21290	N	0.999731	D	0.76494	0.999	D	0.80764	0.994	T	0.58999	-0.7536	8	0.87932	D	0	.	6.2139	0.20644	0.1403:0.0:0.8597:0.0	.	53	Q30KQ5	DB115_HUMAN	D	53	ENSP00000383398:E53D	ENSP00000383398:E53D	E	+	3	2	DEFB115	29310988	0.996000	0.38824	0.574000	0.28523	0.041000	0.13682	1.359000	0.34113	0.872000	0.35775	0.400000	0.26472	GAG		0.353	DEFB115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354402.1	NM_001037730		19	26	0	0	0	0	19	26				
PLCG1	5335	broad.mit.edu	37	20	39797452	39797452	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr20:39797452G>C	ENST00000373271.1	+	21	2830	c.2425G>C	c.(2425-2427)Gag>Cag	p.E809Q	PLCG1_ENST00000244007.3_Missense_Mutation_p.E809Q|PLCG1_ENST00000373272.2_Missense_Mutation_p.E809Q	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	809	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GAGGGAGGACGAGCTGACCTT	0.577																																						uc002xjp.1		NA																	0				lung(3)|breast(3)|skin(2)	8						c.(2425-2427)GAG>CAG		phospholipase C, gamma 1 isoform b							67.0	57.0	60.0					20																	39797452		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39797452G>C	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2425G>C	20.37:g.39797452G>C	ENSP00000362368:p.Glu809Gln					PLCG1_uc002xjo.1_Missense_Mutation_p.E809Q|PLCG1_uc010zwe.1_Missense_Mutation_p.E435Q|PLCG1_uc010ggf.2_Missense_Mutation_p.E133Q	p.E809Q	NM_182811	NP_877963	P19174	PLCG1_HUMAN			21	2546	+		Myeloproliferative disorder(115;0.00878)	809			SH3.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.2425G>C	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982026	0.93044	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.65549	-0.16;-0.16;-0.16	5.82	5.82	0.92795	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Src homology-3 domain (4);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	D	0.84497	0.5485	M	0.91140	3.18	0.80722	D	1	D;P;D;D	0.71674	0.997;0.783;0.998;0.998	D;P;D;D	0.77004	0.969;0.56;0.989;0.982	D	0.87040	0.2140	10	0.87932	D	0	.	20.1054	0.97890	0.0:0.0:1.0:0.0	.	809;385;809;809	P19174-2;B4DMA3;P19174;A2A284	.;.;PLCG1_HUMAN;.	Q	809	ENSP00000244007:E809Q;ENSP00000362368:E809Q;ENSP00000362369:E809Q	ENSP00000244007:E809Q	E	+	1	0	PLCG1	39230866	1.000000	0.71417	0.988000	0.46212	0.731000	0.41821	9.869000	0.99810	2.757000	0.94681	0.655000	0.94253	GAG		0.577	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		6	17	0	0	0	0	6	17				
APP	351	broad.mit.edu	37	21	27348289	27348289	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr21:27348289G>A	ENST00000346798.3	-	10	1310	c.1277C>T	c.(1276-1278)gCt>gTt	p.A426V	APP_ENST00000358918.3_Missense_Mutation_p.A426V|APP_ENST00000448388.2_Missense_Mutation_p.A316V|APP_ENST00000354192.3_Missense_Mutation_p.A295V|APP_ENST00000357903.3_Missense_Mutation_p.A407V|APP_ENST00000359726.3_Missense_Mutation_p.A370V|APP_ENST00000440126.3_Missense_Mutation_p.A402V|APP_ENST00000439274.2_Missense_Mutation_p.A370V|APP_ENST00000348990.5_Missense_Mutation_p.A351V	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	426					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CTTCTTATCAGCTTTAGGCAA	0.378																																						uc002ylz.2		NA																	0				ovary(1)	1						c.(1276-1278)GCT>GTT		amyloid beta A4 protein isoform a precursor							243.0	194.0	211.0					21																	27348289		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27348289G>A	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1277C>T	21.37:g.27348289G>A	ENSP00000284981:p.Ala426Val					APP_uc010glk.2_Missense_Mutation_p.A402V|APP_uc002yma.2_Missense_Mutation_p.A407V|APP_uc011ach.1_Missense_Mutation_p.A370V|APP_uc002ymb.2_Missense_Mutation_p.A351V|APP_uc010glj.2_Missense_Mutation_p.A295V|APP_uc011aci.1_Missense_Mutation_p.A316V	p.A426V	NM_000484	NP_000475	P05067	A4_HUMAN			10	1477	-		Breast(209;0.00295)	426			Extracellular (Potential).		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.1277C>T	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576428	0.86645	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274;ENST00000456209	T;T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.11	5.11	0.69529	Amyloidogenic glycoprotein, E2 domain (2);	0.097445	0.64402	D	0.000001	T	0.68412	0.2998	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D;D;P	0.67145	0.991;0.967;0.996;0.977;0.995;0.995;0.9	P;P;D;P;D;D;P	0.69654	0.762;0.632;0.965;0.499;0.941;0.941;0.478	T	0.71034	-0.4709	10	0.87932	D	0	-7.2183	18.7353	0.91751	0.0:0.0:1.0:0.0	.	316;370;402;295;351;407;426	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	V	426;295;351;407;426;370;316;402;370;13	ENSP00000284981:A426V;ENSP00000346129:A295V;ENSP00000345463:A351V;ENSP00000350578:A407V;ENSP00000351796:A426V;ENSP00000352760:A370V;ENSP00000388538:A316V;ENSP00000387483:A402V;ENSP00000398879:A370V;ENSP00000397795:A13V	ENSP00000284981:A426V	A	-	2	0	APP	26270160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.128000	0.77217	2.833000	0.97629	0.650000	0.86243	GCT		0.378	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		12	34	0	0	0	0	12	34				
GART	2618	broad.mit.edu	37	21	34889435	34889435	+	Silent	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr21:34889435G>A	ENST00000381831.3	-	16	2231	c.1968C>T	c.(1966-1968)ctC>ctT	p.L656L	GART_ENST00000381839.3_Silent_p.L656L|GART_ENST00000543717.1_Silent_p.L208L|GART_ENST00000381815.4_Silent_p.L656L	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	656	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TGGTAGGCGTGAGAAGTAAGT	0.423																																						uc002yrx.2		NA																	0				ovary(1)	1						c.(1966-1968)CTC>CTT		phosphoribosylglycinamide formyltransferase,	Pemetrexed(DB00642)						116.0	111.0	113.0					21																	34889435		2203	4300	6503	SO:0001819	synonymous_variant	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34889435G>A	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.1968C>T	21.37:g.34889435G>A						GART_uc002yrz.2_Silent_p.L656L|GART_uc010gmd.2_Silent_p.L318L|GART_uc002yry.2_Silent_p.L656L	p.L656L	NM_000819	NP_000810	P22102	PUR2_HUMAN			16	2103	-			656			AIRS.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Silent	SNP	ENST00000381831.3	37	c.1968C>T	CCDS13627.1																																																																																				0.423	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		70	34	0	0	0	0	70	34				
CECR2	27443	broad.mit.edu	37	22	18022014	18022014	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr22:18022014C>T	ENST00000400585.2	+	16	2131	c.1693C>T	c.(1693-1695)Cag>Tag	p.Q565*	CECR2_ENST00000400573.5_Nonsense_Mutation_p.Q706*|CECR2_ENST00000262608.8_Nonsense_Mutation_p.Q707*			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	748					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TGCTCCAGCTCAGTTCCAGCC	0.572																																						uc010gqw.1		NA																	0				ovary(1)|skin(1)	2						c.(2116-2118)CAG>TAG		cat eye syndrome chromosome region, candidate 2							23.0	25.0	24.0					22																	18022014		1936	4143	6079	SO:0001587	stop_gained	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022014C>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1693C>T	22.37:g.18022014C>T	ENSP00000383428:p.Gln565*					CECR2_uc010gqv.1_Nonsense_Mutation_p.Q565*|CECR2_uc002zml.2_Nonsense_Mutation_p.Q565*	p.Q706*	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2242	+		all_epithelial(15;0.139)	748					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Nonsense_Mutation	SNP	ENST00000400585.2	37	c.2116C>T		.	.	.	.	.	.	.	.	.	.	C	35	5.427663	0.96131	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	.	.	.	5.43	3.31	0.37934	.	0.546150	0.16438	N	0.214439	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-2.4335	9.5067	0.39051	0.0:0.783:0.1423:0.0747	.	.	.	.	X	565;706;707	.	ENSP00000262608:Q707X	Q	+	1	0	CECR2	16402014	0.902000	0.30710	0.140000	0.22221	0.537000	0.34900	3.199000	0.51043	0.833000	0.34828	0.655000	0.94253	CAG		0.572	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		6	12	0	0	0	0	6	12				
EMID1	129080	broad.mit.edu	37	22	29627089	29627089	+	Silent	SNP	C	C	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr22:29627089C>A	ENST00000404820.3	+	6	673	c.546C>A	c.(544-546)ccC>ccA	p.P182P	EMID1_ENST00000334018.6_Silent_p.P182P|EMID1_ENST00000404755.3_Silent_p.P182P|EMID1_ENST00000484039.1_3'UTR			Q96A84	EMID1_HUMAN	EMI domain containing 1	180	Collagen-like.					collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						TCTGGGGTCCCCCTCCTGCCC	0.622																																						uc003aen.2		NA																	0					0						c.(538-540)CCC>CCA		EMI domain containing 1							55.0	56.0	56.0					22																	29627089		2203	4300	6503	SO:0001819	synonymous_variant	129080					collagen		g.chr22:29627089C>A	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"""EMI domain containing"""	18036	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.546C>A	22.37:g.29627089C>A						EMID1_uc003aem.2_Silent_p.P182P|EMID1_uc003aeo.2_Silent_p.P182P|EMID1_uc003aep.2_Silent_p.P182P	p.P180P	NM_133455	NP_597712	Q96A84	EMID1_HUMAN			6	615	+			180			Collagen-like.		B0QYK6|Q6ICG1|Q86SS7	Silent	SNP	ENST00000404820.3	37	c.540C>A		.	.	.	.	.	.	.	.	.	.	C	0.481	-0.879841	0.02530	.	.	ENSG00000186998	ENST00000433143	D	0.89617	-2.54	4.95	-0.643	0.11482	.	1.077030	0.07244	N	0.864680	D	0.87676	0.6237	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.81362	-0.0967	7	0.66056	D	0.02	-8.9357	3.6461	0.08186	0.1904:0.5731:0.1353:0.1011	.	.	.	.	H	28	ENSP00000408339:P28H	ENSP00000408339:P28H	P	+	2	0	EMID1	27957089	0.411000	0.25384	0.983000	0.44433	0.001000	0.01503	-0.796000	0.04575	0.206000	0.20587	-1.247000	0.01520	CCC		0.622	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455		29	48	1	0	1.75e-13	1.96e-13	29	48				
FBXO7	25793	broad.mit.edu	37	22	32889111	32889111	+	Silent	SNP	A	A	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr22:32889111A>G	ENST00000266087.7	+	7	1314	c.987A>G	c.(985-987)gtA>gtG	p.V329V	FBXO7_ENST00000382058.3_Silent_p.V250V|FBXO7_ENST00000397426.1_Silent_p.V215V	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	329	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TACCAGATGTATTTGGGTTGG	0.438																																						uc003amq.2		NA																	0				ovary(1)	1						c.(985-987)GTA>GTG		F-box only protein 7 isoform 1							326.0	276.0	293.0					22																	32889111		2203	4300	6503	SO:0001819	synonymous_variant	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32889111A>G	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.987A>G	22.37:g.32889111A>G						FBXO7_uc003amr.2_Silent_p.V215V|FBXO7_uc003ams.2_Silent_p.V173V|FBXO7_uc003amt.2_Silent_p.V250V|FBXO7_uc003amu.2_Silent_p.V215V|FBXO7_uc003amv.2_Silent_p.V28V	p.V329V	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN			7	1270	+			329			F-box.		B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Silent	SNP	ENST00000266087.7	37	c.987A>G	CCDS13907.1																																																																																				0.438	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			42	91	0	0	0	0	42	91				
OXSR1	9943	broad.mit.edu	37	3	38271893	38271893	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr3:38271893C>A	ENST00000446845.1	+	10	1295	c.923C>A	c.(922-924)gCa>gAa	p.A308E	OXSR1_ENST00000311806.3_Missense_Mutation_p.A308E					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTGCAGAGAGCACCAACCATT	0.289																																						uc003chy.2		NA																	0				skin(1)	1						c.(922-924)GCA>GAA		oxidative-stress responsive 1							64.0	77.0	73.0					3																	38271893		2203	4293	6496	SO:0001583	missense	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38271893C>A	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.923C>A	3.37:g.38271893C>A	ENSP00000415851:p.Ala308Glu					OXSR1_uc010hhb.2_Missense_Mutation_p.A242E|OXSR1_uc010hha.1_Missense_Mutation_p.A240E	p.A308E	NM_005109	NP_005100	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	10	1265	+			308						Missense_Mutation	SNP	ENST00000446845.1	37	c.923C>A		.	.	.	.	.	.	.	.	.	.	C	18.35	3.604402	0.66445	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.22336	1.96;1.96	4.83	4.83	0.62350	Protein kinase-like domain (1);	0.153604	0.56097	D	0.000027	T	0.36880	0.0983	M	0.71581	2.175	0.51482	D	0.999924	P;P	0.42556	0.783;0.783	P;P	0.51615	0.675;0.557	T	0.08086	-1.0739	10	0.48119	T	0.1	-12.7283	13.0801	0.59109	0.0:0.8385:0.1615:0.0	.	308;308	C9JIG9;O95747	.;OXSR1_HUMAN	E	308	ENSP00000415851:A308E;ENSP00000311713:A308E	ENSP00000311713:A308E	A	+	2	0	OXSR1	38246897	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.019000	0.49635	2.393000	0.81446	0.484000	0.47621	GCA		0.289	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109		25	26	1	0	5.62e-17	6.44e-17	25	26				
PHLDB2	90102	broad.mit.edu	37	3	111681154	111681154	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr3:111681154C>G	ENST00000431670.2	+	13	3483	c.3072C>G	c.(3070-3072)atC>atG	p.I1024M	PHLDB2_ENST00000412622.1_Missense_Mutation_p.I981M|PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000495180.1_Missense_Mutation_p.I515M|PHLDB2_ENST00000393925.3_Missense_Mutation_p.I1024M|PHLDB2_ENST00000481953.1_Missense_Mutation_p.I981M|PHLDB2_ENST00000393923.3_Missense_Mutation_p.I1008M	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1024						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CAGACAACATCTCTAGGTAAG	0.438																																						uc010hqa.2		NA																	0				ovary(4)|skin(2)	6						c.(3070-3072)ATC>ATG		pleckstrin homology-like domain, family B,							81.0	81.0	81.0					3																	111681154		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111681154C>G		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3072C>G	3.37:g.111681154C>G	ENSP00000405405:p.Ile1024Met					PHLDB2_uc003dyc.2_Missense_Mutation_p.I1008M|PHLDB2_uc003dyd.2_Missense_Mutation_p.I981M|PHLDB2_uc003dyg.2_Missense_Mutation_p.I1024M|PHLDB2_uc003dyh.2_Missense_Mutation_p.I981M|PHLDB2_uc003dyi.2_Missense_Mutation_p.I515M|PHLDB2_uc003dyj.2_Missense_Mutation_p.I79M	p.I1024M	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			13	3483	+			1024					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.3072C>G	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464327	0.26335	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	5.84	1.84	0.25277	.	0.057436	0.64402	D	0.000001	T	0.66137	0.2759	N	0.24115	0.695	0.39150	D	0.962206	P;B;B;D;D	0.76494	0.93;0.23;0.374;0.999;0.999	P;B;B;D;D	0.72338	0.564;0.053;0.082;0.977;0.977	T	0.67078	-0.5761	10	0.07813	T	0.8	.	1.2339	0.01949	0.1469:0.3894:0.1345:0.3292	.	143;515;1024;981;1008	Q658P8;E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;.;PHLB2_HUMAN;.;.	M	1008;1024;981;981;1024;981;515	ENSP00000377500:I1008M;ENSP00000405405:I1024M;ENSP00000405292:I981M;ENSP00000418296:I981M;ENSP00000377502:I1024M;ENSP00000418319:I981M;ENSP00000420303:I515M	ENSP00000377500:I1008M	I	+	3	3	PHLDB2	113163844	0.989000	0.36119	0.998000	0.56505	0.984000	0.73092	0.285000	0.18883	0.044000	0.15775	0.655000	0.94253	ATC		0.438	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		13	39	0	0	0	0	13	39				
KALRN	8997	broad.mit.edu	37	3	124103785	124103785	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr3:124103785C>T	ENST00000240874.3	+	11	2015	c.1858C>T	c.(1858-1860)Cga>Tga	p.R620*	KALRN_ENST00000360013.3_Nonsense_Mutation_p.R620*|KALRN_ENST00000460856.1_Nonsense_Mutation_p.R620*	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	620					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAGGCAGCTCGACACCTGGA	0.567																																						uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(1858-1860)CGA>TGA		kalirin, RhoGEF kinase isoform 1							106.0	87.0	93.0					3																	124103785		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124103785C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1858C>T	3.37:g.124103785C>T	ENSP00000240874:p.Arg620*					KALRN_uc010hrv.1_Nonsense_Mutation_p.R620*|KALRN_uc003ehf.1_Nonsense_Mutation_p.R620*|KALRN_uc011bjy.1_Nonsense_Mutation_p.R620*|KALRN_uc003ehh.1_5'UTR	p.R620*	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			11	1985	+			620			Spectrin 3.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000240874.3	37	c.1858C>T	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	42	9.282008	0.99123	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013;ENST00000439170	.	.	.	5.0	3.15	0.36227	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8438	0.63455	0.2788:0.7212:0.0:0.0	.	.	.	.	X	620;620;620;96	.	ENSP00000240874:R620X	R	+	1	2	KALRN	125586475	0.218000	0.23608	0.735000	0.30896	0.998000	0.95712	1.006000	0.29847	0.644000	0.30656	0.563000	0.77884	CGA		0.567	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		23	39	0	0	0	0	23	39				
PIK3CB	5291	broad.mit.edu	37	3	138431123	138431123	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr3:138431123A>T	ENST00000477593.1	-	9	1399	c.1326T>A	c.(1324-1326)aaT>aaA	p.N442K	PIK3CB_ENST00000289153.2_Missense_Mutation_p.N442K|PIK3CB_ENST00000544716.1_5'UTR			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	442	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AAACCATCGTATTTACCCACG	0.343																																						uc011bmq.1		NA																	0				breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(1324-1326)AAT>AAA		catalytic phosphatidylinositol 3-kinase beta							117.0	107.0	111.0					3																	138431123		2203	4299	6502	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138431123A>T		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1326T>A	3.37:g.138431123A>T	ENSP00000418143:p.Asn442Lys					PIK3CB_uc011bmo.1_5'UTR|PIK3CB_uc011bmp.1_Missense_Mutation_p.N46K	p.N442K	NM_006219	NP_006210	P42338	PK3CB_HUMAN			8	1326	-			442			C2 PI3K-type.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.1326T>A	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.21|16.21	3.059787|3.059787	0.55325|0.55325	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000493568|ENST00000477593;ENST00000289153	.|T;T	.|0.72942	.|-0.7;-0.7	5.93|5.93	0.842|0.842	0.18927|0.18927	.|C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82508|0.82508	0.5052|0.5052	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.81118|0.81118	-0.1078|-0.1078	5|10	.|0.87932	.|D	.|0	-30.0591|-30.0591	9.5063|9.5063	0.39048|0.39048	0.6697:0.0:0.3303:0.0|0.6697:0.0:0.3303:0.0	.|.	.|442;46	.|P42338;B4DZI3	.|PK3CB_HUMAN;.	K|K	91|442	.|ENSP00000418143:N442K;ENSP00000289153:N442K	.|ENSP00000289153:N442K	I|N	-|-	2|3	0|2	PIK3CB|PIK3CB	139913813|139913813	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.981000|0.981000	0.71138|0.71138	1.959000|1.959000	0.40412|0.40412	-0.075000|-0.075000	0.12798|0.12798	0.460000|0.460000	0.39030|0.39030	ATA|AAT		0.343	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			7	21	0	0	0	0	7	21				
ARHGEF26	26084	broad.mit.edu	37	3	153840682	153840682	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr3:153840682G>T	ENST00000356448.4	+	2	1185	c.901G>T	c.(901-903)Gac>Tac	p.D301Y	ARHGEF26_ENST00000465817.1_Missense_Mutation_p.D301Y|ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.D301Y|ARHGEF26-AS1_ENST00000479270.1_RNA	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	301					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GGTCGATAACGACGTGGATAG	0.592																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	uc011bog.1		NA																	0				large_intestine(1)	1						c.(901-903)GAC>TAC		Src homology 3 domain-containing guanine							48.0	61.0	57.0					3																	153840682		2027	4167	6194	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153840682G>T	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.901G>T	3.37:g.153840682G>T	ENSP00000348828:p.Asp301Tyr					uc003ezu.1_5'Flank|SGEF_uc011boh.1_Missense_Mutation_p.D301Y	p.D301Y	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		2	1112	+			301					B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.901G>T	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317053	0.81469	.	.	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	T;T;T	0.65549	-0.16;-0.16;1.55	5.3	5.3	0.74995	.	0.107942	0.64402	D	0.000003	T	0.73666	0.3616	L	0.52573	1.65	0.58432	D	0.999997	D;D	0.76494	0.999;0.997	P;P	0.61800	0.894;0.894	T	0.76069	-0.3094	10	0.72032	D	0.01	-23.5742	18.963	0.92684	0.0:0.0:1.0:0.0	.	301;301	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	Y	301	ENSP00000348828:D301Y;ENSP00000423418:D301Y;ENSP00000423295:D301Y	ENSP00000348828:D301Y	D	+	1	0	ARHGEF26	155323372	1.000000	0.71417	0.986000	0.45419	0.607000	0.37147	5.612000	0.67681	2.481000	0.83766	0.561000	0.74099	GAC		0.592	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		5	9	1	0	1.24e-05	1.3e-05	5	9				
GUF1	60558	broad.mit.edu	37	4	44684387	44684387	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr4:44684387G>A	ENST00000281543.5	+	5	738	c.544G>A	c.(544-546)Gcc>Acc	p.A182T	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						CTTCTTTCTTGCCTTCGAAGC	0.318																																						uc003gww.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(544-546)GCC>ACC		GUF1 GTPase homolog							113.0	118.0	116.0					4																	44684387		2203	4298	6501	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44684387G>A		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.544G>A	4.37:g.44684387G>A	ENSP00000281543:p.Ala182Thr					GUF1_uc010ifz.1_RNA	p.A182T	NM_021927	NP_068746	Q8N442	GUF1_HUMAN			5	751	+			182						Missense_Mutation	SNP	ENST00000281543.5	37	c.544G>A	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	G	35	5.436676	0.96168	.	.	ENSG00000151806	ENST00000281543	T	0.75367	-0.93	5.55	5.55	0.83447	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.90769	0.7102	H	0.96518	3.835	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.93416	0.6773	10	0.87932	D	0	-8.8032	18.4953	0.90863	0.0:0.0:1.0:0.0	.	182	Q8N442	GUF1_HUMAN	T	182	ENSP00000281543:A182T	ENSP00000281543:A182T	A	+	1	0	GUF1	44379144	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.368000	0.97152	2.590000	0.87494	0.655000	0.94253	GCC		0.318	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		23	69	0	0	0	0	23	69				
AASDH	132949	broad.mit.edu	37	4	57244333	57244333	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr4:57244333G>C	ENST00000205214.6	-	4	829	c.649C>G	c.(649-651)Cca>Gca	p.P217A	AASDH_ENST00000513376.1_Missense_Mutation_p.P117A|AASDH_ENST00000502617.1_Missense_Mutation_p.P217A|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000451613.1_Missense_Mutation_p.P217A|AASDH_ENST00000602986.1_Missense_Mutation_p.P64A	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	217					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TGGATATTTGGTACTATACAC	0.423																																						uc003hbn.2		NA																	0				ovary(4)	4						c.(649-651)CCA>GCA		aminoadipate-semialdehyde dehydrogenase							166.0	146.0	153.0					4																	57244333		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57244333G>C	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.649C>G	4.37:g.57244333G>C	ENSP00000205214:p.Pro217Ala					AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.P64A|AASDH_uc003hbo.2_Missense_Mutation_p.P117A|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Missense_Mutation_p.P217A|AASDH_uc003hbp.2_Missense_Mutation_p.P217A	p.P217A	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			4	802	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	217					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.649C>G	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349932	0.82132	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.95	5.95	0.96441	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	L	0.28400	0.85	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.998	T	0.45789	-0.9237	10	0.49607	T	0.09	-15.7658	19.9882	0.97356	0.0:0.0:1.0:0.0	.	64;217;217;217	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	A	217;117;217;64;217	ENSP00000205214:P217A;ENSP00000423760:P117A;ENSP00000409656:P217A;ENSP00000421171:P217A	ENSP00000205214:P217A	P	-	1	0	AASDH	56939090	1.000000	0.71417	0.982000	0.44146	0.914000	0.54420	8.100000	0.89544	2.824000	0.97209	0.655000	0.94253	CCA		0.423	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		32	46	0	0	0	0	32	46				
CNOT6L	246175	broad.mit.edu	37	4	78641683	78641683	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr4:78641683G>A	ENST00000504123.1	-	12	1700	c.1570C>T	c.(1570-1572)Cac>Tac	p.H524Y	CNOT6L_ENST00000264903.4_Missense_Mutation_p.H524Y			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	524	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GAAGGGATGTGAGGGTGTGGA	0.488																																						uc011ccd.1		NA																	0				large_intestine(1)	1						c.(1570-1572)CAC>TAC		CCR4-NOT transcription complex, subunit 6-like							110.0	102.0	104.0					4																	78641683		1886	4098	5984	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78641683G>A	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1570C>T	4.37:g.78641683G>A	ENSP00000424896:p.His524Tyr					CNOT6L_uc003hks.2_Missense_Mutation_p.H524Y	p.H524Y	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN			12	1701	-			524					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1570C>T		.	.	.	.	.	.	.	.	.	.	G	16.24	3.066775	0.55539	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485	D;D;D	0.94931	-3.56;-3.56;-3.56	5.95	5.95	0.96441	Endonuclease/exonuclease/phosphatase (2);	1.063100	0.07358	N	0.883603	D	0.96959	0.9007	M	0.87547	2.89	0.80722	D	1	B	0.29341	0.242	B	0.39935	0.314	D	0.90432	0.4425	10	0.72032	D	0.01	-3.4913	20.3921	0.98947	0.0:0.0:1.0:0.0	.	524	Q96LI5	CNO6L_HUMAN	Y	524;524;531	ENSP00000424896:H524Y;ENSP00000264903:H524Y;ENSP00000425571:H531Y	ENSP00000264903:H524Y	H	-	1	0	CNOT6L	78860707	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.863000	0.87023	2.822000	0.97130	0.650000	0.86243	CAC		0.488	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			30	131	0	0	0	0	30	131				
GRID2	2895	broad.mit.edu	37	4	94377080	94377080	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr4:94377080C>G	ENST00000282020.4	+	11	2071	c.1813C>G	c.(1813-1815)Ctc>Gtc	p.L605V	GRID2_ENST00000510992.1_Missense_Mutation_p.L510V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	605					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GTCTACTACTCTCTACAACTC	0.403																																						uc011cdt.1		NA																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(1813-1815)CTC>GTC		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						191.0	173.0	179.0					4																	94377080		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94377080C>G	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1813C>G	4.37:g.94377080C>G	ENSP00000282020:p.Leu605Val					GRID2_uc011cdu.1_Missense_Mutation_p.L510V	p.L605V	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	11	2071	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	605			Cytoplasmic (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1813C>G	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732591	0.89482	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;T	0.97553	-4.43;0.5	6.17	6.17	0.99709	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.97779	0.9271	L	0.45228	1.405	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	D	0.97690	1.0178	10	0.52906	T	0.07	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	510;605	E9PH24;O43424	.;GRID2_HUMAN	V	605;510	ENSP00000282020:L605V;ENSP00000421257:L510V	ENSP00000282020:L605V	L	+	1	0	GRID2	94596103	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CTC		0.403	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			29	47	0	0	0	0	29	47				
NAF1	92345	broad.mit.edu	37	4	164050333	164050333	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr4:164050333T>C	ENST00000274054.2	-	8	1394	c.1201A>G	c.(1201-1203)Atg>Gtg	p.M401V	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	401					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TGAGATACCATATGTTCTGAG	0.433																																						uc003iqj.2		NA																	0				ovary(2)	2						c.(1201-1203)ATG>GTG		nuclear assembly factor 1 homolog isoform a							94.0	103.0	100.0					4																	164050333		2203	4300	6503	SO:0001583	missense	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050333T>C		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1201A>G	4.37:g.164050333T>C	ENSP00000274054:p.Met401Val					NAF1_uc010iqw.1_Intron	p.M401V	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN			8	1395	-	all_hematologic(180;0.166)	Prostate(90;0.109)	401					D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	c.1201A>G	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	T	1.740	-0.491844	0.04322	.	.	ENSG00000145414	ENST00000274054	T	0.41065	1.01	4.38	-5.27	0.02763	.	0.977994	0.08373	N	0.955735	T	0.21062	0.0507	L	0.32530	0.975	0.09310	N	1	B	0.34015	0.435	B	0.32393	0.145	T	0.21999	-1.0229	10	0.15952	T	0.53	2.4428	1.8303	0.03129	0.135:0.3368:0.139:0.3892	.	401	Q96HR8	NAF1_HUMAN	V	401	ENSP00000274054:M401V	ENSP00000274054:M401V	M	-	1	0	NAF1	164269783	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.297000	0.08276	-1.064000	0.03172	-0.353000	0.07706	ATG		0.433	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		21	24	0	0	0	0	21	24				
DNAH5	1767	broad.mit.edu	37	5	13900460	13900460	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:13900460T>A	ENST00000265104.4	-	15	2218	c.2114A>T	c.(2113-2115)gAa>gTa	p.E705V	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	705	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TACAAACAATTCCCCTGTGCC	0.428									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(2113-2115)GAA>GTA		dynein, axonemal, heavy chain 5							82.0	85.0	84.0					5																	13900460		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13900460T>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2114A>T	5.37:g.13900460T>A	ENSP00000265104:p.Glu705Val						p.E705V	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			15	2156	-	Lung NSC(4;0.00476)		705			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.2114A>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.164925	0.57476	.	.	ENSG00000039139	ENST00000265104	T	0.58652	0.32	5.5	5.5	0.81552	Dynein heavy chain, domain-1 (1);	0.152666	0.56097	D	0.000028	T	0.59838	0.2223	M	0.78049	2.395	0.58432	D	0.999997	B	0.09022	0.002	B	0.16289	0.015	T	0.57271	-0.7840	10	0.27785	T	0.31	.	15.5908	0.76526	0.0:0.0:0.0:1.0	.	705	Q8TE73	DYH5_HUMAN	V	705	ENSP00000265104:E705V	ENSP00000265104:E705V	E	-	2	0	DNAH5	13953460	1.000000	0.71417	0.261000	0.24466	0.992000	0.81027	7.651000	0.83577	2.088000	0.63022	0.528000	0.53228	GAA		0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		24	55	0	0	0	0	24	55				
PRKAA1	5562	broad.mit.edu	37	5	40765031	40765031	+	Silent	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:40765031G>A	ENST00000397128.2	-	7	1139	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	PRKAA1_ENST00000354209.3_Silent_p.F392F	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	377	AIS.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	CAGCAACCAAGAATGGTACTC	0.428																																						uc003jmc.2		NA																	0				breast(1)	1						c.(1129-1131)TTC>TTT		protein kinase, AMP-activated, alpha 1 catalytic	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)						100.0	94.0	96.0					5																	40765031		1996	4158	6154	SO:0001819	synonymous_variant	5562				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	g.chr5:40765031G>A		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.1131C>T	5.37:g.40765031G>A						PRKAA1_uc003jmb.2_Silent_p.F392F	p.F377F	NM_006251	NP_006242	Q13131	AAPK1_HUMAN			7	1137	-			377					A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Silent	SNP	ENST00000397128.2	37	c.1131C>T	CCDS3932.2																																																																																				0.428	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251		8	34	0	0	0	0	8	34				
PRKAA1	5562	broad.mit.edu	37	5	40765109	40765109	+	Silent	SNP	G	G	A	rs116338283	byFrequency	TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:40765109G>A	ENST00000397128.2	-	7	1061	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	PRKAA1_ENST00000354209.3_Silent_p.F366F	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	351	AIS.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)	p.F366L(1)		breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TCGCCAAATAGAAATCTTTGG	0.433													G|||	4	0.000798722	0.003	0.0	5008	,	,		17638	0.0		0.0	False		,,,				2504	0.0					uc003jmc.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	breast(1)	1						c.(1051-1053)TTC>TTT		protein kinase, AMP-activated, alpha 1 catalytic	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	G	,	6,3886		0,6,1940	94.0	93.0	93.0		1053,1098	3.0	1.0	5	dbSNP_132	93	0,8270		0,0,4135	no	coding-synonymous,coding-synonymous	PRKAA1	NM_006251.5,NM_206907.3	,	0,6,6075	AA,AG,GG		0.0,0.1542,0.0493	,	351/560,366/575	40765109	6,12156	1946	4135	6081	SO:0001819	synonymous_variant	5562				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	g.chr5:40765109G>A		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.1053C>T	5.37:g.40765109G>A						PRKAA1_uc003jmb.2_Silent_p.F366F	p.F351F	NM_006251	NP_006242	Q13131	AAPK1_HUMAN			7	1059	-			351					A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Silent	SNP	ENST00000397128.2	37	c.1053C>T	CCDS3932.2																																																																																				0.433	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251		18	57	0	0	0	0	18	57				
ACTBL2	345651	broad.mit.edu	37	5	56777724	56777724	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:56777724C>G	ENST00000423391.1	-	1	912	c.811G>C	c.(811-813)Gag>Cag	p.E271Q	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	271						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CCACTGGACTCAATGCCCAGA	0.502																																						uc003jrm.2		NA																	0				ovary(3)	3						c.(811-813)GAG>CAG		actin, beta-like 2							96.0	90.0	92.0					5																	56777724		2203	4300	6503	SO:0001583	missense	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56777724C>G		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.811G>C	5.37:g.56777724C>G	ENSP00000416706:p.Glu271Gln						p.E271Q	NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	913	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	271					B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	c.811G>C	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844398	0.51164	.	.	ENSG00000169067	ENST00000423391	T	0.09350	2.99	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000004	T	0.44850	0.1313	H	0.96208	3.785	0.49915	D	0.999836	P	0.45126	0.851	P	0.60012	0.867	T	0.59679	-0.7409	10	0.87932	D	0	.	15.6308	0.76906	0.0:1.0:0.0:0.0	.	271	Q562R1	ACTBL_HUMAN	Q	271	ENSP00000416706:E271Q	ENSP00000416706:E271Q	E	-	1	0	ACTBL2	56813481	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.645000	0.83430	2.544000	0.85801	0.655000	0.94253	GAG		0.502	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		10	30	0	0	0	0	10	30				
PCDHA2	56146	broad.mit.edu	37	5	140176801	140176801	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:140176801C>G	ENST00000526136.1	+	1	2252	c.2252C>G	c.(2251-2253)tCg>tGg	p.S751W	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.S751W|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.S751W	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	751	5 X 4 AA repeats of P-X-X-P.				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(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCTTACTCGCAGCAGAGG	0.667																																						uc003lhd.2		NA																	0				ovary(4)	4						c.(2251-2253)TCG>TGG		protocadherin alpha 2 isoform 1 precursor							43.0	47.0	46.0					5																	140176801		2203	4300	6503	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140176801C>G	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2252C>G	5.37:g.140176801C>G	ENSP00000431748:p.Ser751Trp					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.S751W|PCDHA2_uc011czy.1_Missense_Mutation_p.S751W	p.S751W	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2358	+			751			Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.2252C>G	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	16.42	3.117832	0.56505	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.80653	-1.4;-1.4;-1.4	4.0	4.0	0.46444	.	0.000000	0.35805	U	0.002969	D	0.92561	0.7637	H	0.95712	3.71	0.48901	D	0.999728	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95046	0.8182	10	0.72032	D	0.01	.	16.4654	0.84077	0.0:1.0:0.0:0.0	.	751;751;751	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	W	751	ENSP00000430584:S751W;ENSP00000367372:S751W;ENSP00000431748:S751W	ENSP00000367372:S751W	S	+	2	0	PCDHA2	140156985	0.842000	0.29525	0.962000	0.40283	0.459000	0.32528	2.737000	0.47393	1.944000	0.56390	0.585000	0.79938	TCG		0.667	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		16	28	0	0	0	0	16	28				
HAVCR1	26762	broad.mit.edu	37	5	156464353	156464353	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:156464353C>A	ENST00000339252.3	-	6	1389	c.857G>T	c.(856-858)aGt>aTt	p.S286I	HAVCR1_ENST00000523175.1_Missense_Mutation_p.S286I|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000425854.1_Missense_Mutation_p.S286I|HAVCR1_ENST00000522693.1_Missense_Mutation_p.S286I|HAVCR1_ENST00000544197.1_Missense_Mutation_p.S286I	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	281					viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGTCAGTAGACTATGTTCTAG	0.398																																						uc010jij.1		NA																	0				ovary(1)|skin(1)	2						c.(856-858)AGT>ATT		hepatitis A virus cellular receptor 1							118.0	111.0	113.0					5																	156464353		1883	4134	6017	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156464353C>A	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.857G>T	5.37:g.156464353C>A	ENSP00000344844:p.Ser286Ile					HAVCR1_uc011ddl.1_Missense_Mutation_p.S117I|HAVCR1_uc003lwi.2_Missense_Mutation_p.S286I	p.S286I	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	1042	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	281			Extracellular (Potential).		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.857G>T	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	C	9.058	0.993657	0.19043	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197	T;T;T;T;T	0.15372	2.43;2.49;2.49;2.43;2.49	3.87	-5.64	0.02466	.	2.890050	0.01362	N	0.012283	T	0.11707	0.0285	L	0.34521	1.04	0.09310	N	1	B;B;B	0.28512	0.214;0.214;0.214	B;B;B	0.22753	0.041;0.037;0.037	T	0.18366	-1.0339	10	0.37606	T	0.19	-0.0455	6.4607	0.21954	0.0:0.4179:0.1378:0.4443	.	286;281;281	E9PFX0;F1CME6;Q96D42	.;.;HAVR1_HUMAN	I	286	ENSP00000428524:S286I;ENSP00000427898:S286I;ENSP00000344844:S286I;ENSP00000403333:S286I;ENSP00000440258:S286I	ENSP00000344844:S286I	S	-	2	0	HAVCR1	156396931	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.150000	0.01290	-1.109000	0.02996	-1.105000	0.02106	AGT		0.398	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			33	36	1	0	8.89e-20	1.03e-19	33	36				
CNOT6	57472	broad.mit.edu	37	5	179980420	179980420	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:179980420C>G	ENST00000393356.1	+	6	758	c.334C>G	c.(334-336)Cta>Gta	p.L112V	CNOT6_ENST00000261951.4_Missense_Mutation_p.L112V|CNOT6_ENST00000502447.1_Intron			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	112					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GTTACGAGTTCTACCTTTTGA	0.353																																						uc003mlx.2		NA																	0					0						c.(334-336)CTA>GTA		CCR4-NOT transcription complex, subunit 6							118.0	116.0	117.0					5																	179980420		2203	4300	6503	SO:0001583	missense	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	g.chr5:179980420C>G	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.334C>G	5.37:g.179980420C>G	ENSP00000377024:p.Leu112Val					CNOT6_uc010jld.2_Missense_Mutation_p.L112V|CNOT6_uc010jle.2_Missense_Mutation_p.L112V	p.L112V	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	4	683	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	112			LRR 3.		A7MD46|D3DWR0	Missense_Mutation	SNP	ENST00000393356.1	37	c.334C>G	CCDS4455.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851139	0.71719	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	D;D	0.81996	-1.56;-1.56	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	D	0.88005	0.6321	M	0.64080	1.96	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	D	0.87031	0.2135	9	.	.	.	-5.8728	9.6333	0.39793	0.0:0.8383:0.0:0.1617	.	112	Q9ULM6	CNOT6_HUMAN	V	112	ENSP00000261951:L112V;ENSP00000377024:L112V	.	L	+	1	2	CNOT6	179913026	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.494000	0.45329	2.636000	0.89361	0.467000	0.42956	CTA		0.353	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455		5	23	0	0	0	0	5	23				
RING1	6015	broad.mit.edu	37	6	33180132	33180132	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr6:33180132C>T	ENST00000374656.4	+	7	1385	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	393	Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GAAGGTGTCCCGGCCACTGGA	0.577																																						uc003odk.2		NA																	0				ovary(1)|skin(1)	2						c.(1177-1179)CGG>TGG		ring finger protein 1							28.0	24.0	26.0					6																	33180132		1507	2708	4215	SO:0001583	missense	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33180132C>T		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.1177C>T	6.37:g.33180132C>T	ENSP00000363787:p.Arg393Trp					RING1_uc003odl.2_Missense_Mutation_p.R364W	p.R393W	NM_002931	NP_002922	Q06587	RING1_HUMAN			7	1371	+			393			Necessary for interaction with CBX2 (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	37	c.1177C>T	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	C	8.272	0.813520	0.16537	.	.	ENSG00000204227	ENST00000374656	D	0.85629	-2.01	4.92	-5.97	0.02227	.	0.154220	0.40385	N	0.001101	T	0.50446	0.1616	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49283	-0.8956	10	0.87932	D	0	-3.1578	7.995	0.30263	0.6965:0.139:0.0914:0.0731	.	393	Q06587	RING1_HUMAN	W	393	ENSP00000363787:R393W	ENSP00000363787:R393W	R	+	1	2	RING1	33288110	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	3.005000	0.49521	-1.000000	0.03438	-1.060000	0.02296	CGG		0.577	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			4	7	0	0	0	0	4	7				
ABCC10	89845	broad.mit.edu	37	6	43413617	43413617	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr6:43413617A>G	ENST00000372530.4	+	15	3526	c.3311A>G	c.(3310-3312)tAt>tGt	p.Y1104C	ABCC10_ENST00000244533.3_Missense_Mutation_p.Y1076C	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1104	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TCTCCACTGTATAGCCATCTG	0.637																																						uc003ouy.1		NA																	0				ovary(6)|central_nervous_system(1)	7						c.(3310-3312)TAT>TGT		ATP-binding cassette, sub-family C, member 10							29.0	31.0	30.0					6																	43413617		2188	4280	6468	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43413617A>G	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3311A>G	6.37:g.43413617A>G	ENSP00000361608:p.Tyr1104Cys					ABCC10_uc003ouz.1_Missense_Mutation_p.Y1076C|ABCC10_uc010jyo.1_Missense_Mutation_p.Y210C	p.Y1104C	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		15	3526	+	all_lung(25;0.00536)		1104			ABC transmembrane type-1 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.3311A>G	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999294	0.74818	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.94417	-3.42;-3.42	5.34	5.34	0.76211	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97009	0.9023	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.78314	0.975;0.991	D	0.97894	1.0299	10	0.87932	D	0	-9.6529	15.3165	0.74085	1.0:0.0:0.0:0.0	.	1076;1104	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	C	1104;1076	ENSP00000361608:Y1104C;ENSP00000244533:Y1076C	ENSP00000244533:Y1076C	Y	+	2	0	ABCC10	43521595	1.000000	0.71417	0.999000	0.59377	0.641000	0.38312	9.317000	0.96327	2.014000	0.59158	0.533000	0.62120	TAT		0.637	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		21	43	0	0	0	0	21	43				
GFRAL	389400	broad.mit.edu	37	6	55223758	55223758	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr6:55223758C>A	ENST00000340465.2	+	6	860	c.774C>A	c.(772-774)tgC>tgA	p.C258*		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	258					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATGAGAATTGCATTAGCACCT	0.413																																						uc003pcm.1		NA																	0				ovary(1)|breast(1)	2						c.(772-774)TGC>TGA		GDNF family receptor alpha like precursor							199.0	169.0	179.0					6																	55223758		2203	4300	6503	SO:0001587	stop_gained	389400					integral to membrane	receptor activity	g.chr6:55223758C>A	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.774C>A	6.37:g.55223758C>A	ENSP00000343636:p.Cys258*						p.C258*	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		6	860	+	Lung NSC(77;0.0875)|Renal(3;0.122)		258			Extracellular (Potential).		Q5VTF6	Nonsense_Mutation	SNP	ENST00000340465.2	37	c.774C>A	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376929	0.82682	.	.	ENSG00000187871	ENST00000340465	.	.	.	5.67	3.83	0.44106	.	0.053018	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8094	8.1085	0.30900	0.0:0.6785:0.0:0.3215	.	.	.	.	X	258	.	ENSP00000343636:C258X	C	+	3	2	GFRAL	55331717	0.998000	0.40836	0.747000	0.31113	0.401000	0.30781	0.435000	0.21510	0.681000	0.31386	0.557000	0.71058	TGC		0.413	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		28	51	1	0	8.25e-16	9.41e-16	28	51				
HDAC9	9734	broad.mit.edu	37	7	18688255	18688255	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr7:18688255G>C	ENST00000432645.2	+	10	1407	c.1407G>C	c.(1405-1407)caG>caC	p.Q469H	HDAC9_ENST00000406451.4_Missense_Mutation_p.Q469H|HDAC9_ENST00000428307.2_Missense_Mutation_p.Q425H|HDAC9_ENST00000524023.1_Missense_Mutation_p.Q392H|HDAC9_ENST00000417496.2_Missense_Mutation_p.Q467H|HDAC9_ENST00000406072.1_Missense_Mutation_p.Q456H|HDAC9_ENST00000441542.2_Missense_Mutation_p.Q472H|HDAC9_ENST00000456174.2_Missense_Mutation_p.Q441H|HDAC9_ENST00000405010.3_Missense_Mutation_p.Q469H|HDAC9_ENST00000401921.1_Missense_Mutation_p.Q428H	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	469					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGCAACACCAGCAATTCTTGG	0.498																																						uc003suh.2		NA																	0				lung(2)|central_nervous_system(2)|kidney(1)	5						c.(1405-1407)CAG>CAC		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						51.0	53.0	52.0					7																	18688255		2051	4190	6241	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18688255G>C	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1407G>C	7.37:g.18688255G>C	ENSP00000410337:p.Gln469His					HDAC9_uc003sue.2_Missense_Mutation_p.Q469H|HDAC9_uc011jyd.1_Missense_Mutation_p.Q469H|HDAC9_uc003sui.2_Missense_Mutation_p.Q472H|HDAC9_uc003suj.2_Missense_Mutation_p.Q428H|HDAC9_uc011jya.1_Missense_Mutation_p.Q466H|HDAC9_uc003sua.1_Missense_Mutation_p.Q447H|HDAC9_uc011jyb.1_Missense_Mutation_p.Q425H|HDAC9_uc003sud.1_Missense_Mutation_p.Q469H|HDAC9_uc011jyc.1_Missense_Mutation_p.Q428H|HDAC9_uc003suf.1_Missense_Mutation_p.Q500H|HDAC9_uc010kud.1_Missense_Mutation_p.Q472H|HDAC9_uc011jye.1_Missense_Mutation_p.Q441H|HDAC9_uc011jyf.1_Missense_Mutation_p.Q392H|HDAC9_uc010kue.1_Missense_Mutation_p.Q212H	p.Q469H	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			10	1448	+	all_lung(11;0.187)		469					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1407G>C	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.651449	0.67472	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.60920	0.66;0.71;0.17;0.67;0.66;0.15;0.17;0.17;0.71;0.66	5.48	4.6	0.57074	.	0.000000	0.52532	D	0.000078	T	0.69477	0.3115	L	0.55103	1.725	0.54753	D	0.999986	D;D;D;D;D;D;B;D;D;D;B;D;D;D	0.71674	0.995;0.996;0.997;0.996;0.995;0.997;0.303;0.986;0.998;0.996;0.303;0.998;0.998;0.99	D;P;D;P;D;D;B;P;D;D;B;D;D;P	0.81914	0.99;0.862;0.995;0.804;0.99;0.995;0.172;0.904;0.979;0.953;0.172;0.979;0.935;0.804	T	0.71787	-0.4487	10	0.87932	D	0	-12.2888	11.1473	0.48438	0.1966:0.0:0.8034:0.0	.	392;441;469;456;467;469;472;428;472;469;441;469;469;447	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	H	467;470;469;469;425;456;428;469;472;441;392;469	ENSP00000401669:Q467H;ENSP00000384382:Q469H;ENSP00000384657:Q469H;ENSP00000395655:Q425H;ENSP00000384017:Q456H;ENSP00000383912:Q428H;ENSP00000410337:Q469H;ENSP00000408617:Q472H;ENSP00000388568:Q441H;ENSP00000430036:Q392H	ENSP00000262069:Q470H	Q	+	3	2	HDAC9	18654780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.115000	0.50391	1.307000	0.44944	0.557000	0.71058	CAG		0.498	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			16	23	0	0	0	0	16	23				
HNRNPA2B1	3181	broad.mit.edu	37	7	26232879	26232879	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr7:26232879T>C	ENST00000354667.4	-	10	1160	c.992A>G	c.(991-993)tAt>tGt	p.Y331C	HNRNPA2B1_ENST00000476233.1_5'Flank|HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.Y319C	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	331	Gly-rich.|Nuclear targeting sequence. {ECO:0000250}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ACCTCCACCATATGGTCCCCC	0.358			T	ETV1	prostate																																	uc003sxr.3		NA		Dom	yes		7	7p15	3181	T	heterogeneous nuclear ribonucleoprotein A2/B1			E	ETV1		prostate		0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(991-993)TAT>TGT		heterogeneous nuclear ribonucleoprotein A2/B1							109.0	108.0	108.0					7																	26232879		2203	4300	6503	SO:0001583	missense	3181				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding	g.chr7:26232879T>C	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.992A>G	7.37:g.26232879T>C	ENSP00000346694:p.Tyr331Cys					HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.Y319C	p.Y331C	NM_031243	NP_112533	P22626	ROA2_HUMAN			10	1208	-			331			Gly-rich.|Nuclear targeting sequence (By similarity).		A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	ENST00000354667.4	37	c.992A>G	CCDS43557.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740611	0.69304	.	.	ENSG00000122566	ENST00000354667;ENST00000356674	D;D	0.85629	-2.01;-2.01	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000011	D	0.91150	0.7213	L	0.61387	1.9	0.50171	D	0.999858	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.99	D	0.90732	0.4643	10	0.45353	T	0.12	.	16.5446	0.84426	0.0:0.0:0.0:1.0	.	319;331	P22626-2;P22626	.;ROA2_HUMAN	C	331;319	ENSP00000346694:Y331C;ENSP00000349101:Y319C	ENSP00000346694:Y331C	Y	-	2	0	HNRNPA2B1	26199404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.863000	0.87023	2.311000	0.77944	0.533000	0.62120	TAT		0.358	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137		29	59	0	0	0	0	29	59				
SFRP4	6424	broad.mit.edu	37	7	37955807	37955807	+	Silent	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr7:37955807G>A	ENST00000436072.2	-	1	710	c.333C>T	c.(331-333)ctC>ctT	p.L111L	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	111	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						ACATCTTCATGAGGGGCTCGC	0.627																																						uc003tfo.3		NA																	0				lung(1)	1						c.(331-333)CTC>CTT		secreted frizzled-related  protein 4 precursor							57.0	51.0	53.0					7																	37955807		2203	4300	6503	SO:0001819	synonymous_variant	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37955807G>A	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.333C>T	7.37:g.37955807G>A							p.L111L	NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN			1	719	-			111			FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Silent	SNP	ENST00000436072.2	37	c.333C>T	CCDS5453.1																																																																																				0.627	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		19	33	0	0	0	0	19	33				
SEMA3A	10371	broad.mit.edu	37	7	83643661	83643661	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr7:83643661T>A	ENST00000265362.4	-	7	988	c.674A>T	c.(673-675)aAg>aTg	p.K225M	SEMA3A_ENST00000436949.1_Missense_Mutation_p.K225M	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	225	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ACTAATGAACTTTGGATCTGA	0.333																																						uc003uhz.2		NA																	0				ovary(2)|breast(1)|kidney(1)	4						c.(673-675)AAG>ATG		semaphorin 3A precursor							65.0	66.0	65.0					7																	83643661		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83643661T>A	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.674A>T	7.37:g.83643661T>A	ENSP00000265362:p.Lys225Met						p.K225M	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			7	989	-			225			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.674A>T	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.356855	0.61293	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.12255	2.7;2.7	5.6	3.81	0.43845	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.201218	0.64402	D	0.000009	T	0.20941	0.0504	L	0.37697	1.125	0.26306	N	0.977891	P	0.39376	0.67	P	0.52343	0.696	T	0.04203	-1.0969	10	0.41790	T	0.15	.	12.3223	0.54991	0.0:0.8632:0.0:0.1368	.	225	Q14563	SEM3A_HUMAN	M	225	ENSP00000265362:K225M;ENSP00000415260:K225M	ENSP00000265362:K225M	K	-	2	0	SEMA3A	83481597	1.000000	0.71417	0.997000	0.53966	0.899000	0.52679	2.044000	0.41241	0.736000	0.32559	-0.766000	0.03442	AAG		0.333	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		11	11	0	0	0	0	11	11				
BLK	640	broad.mit.edu	37	8	11412840	11412840	+	Splice_Site	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr8:11412840G>C	ENST00000259089.4	+	8	1211		c.e8-1		BLK_ENST00000529894.1_Splice_Site|RP11-148O21.3_ENST00000527922.1_RNA|RP11-148O21.6_ENST00000602626.1_lincRNA|RP11-148O21.4_ENST00000528629.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase						B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCCTAATGCAGAGAAGGGGGA	0.627																																						uc003wty.2		NA																	0				large_intestine(1)|stomach(1)|ovary(1)	3						c.e8-1		B lymphoid tyrosine kinase							62.0	66.0	64.0					8																	11412840		2203	4300	6503	SO:0001630	splice_region_variant	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11412840G>C	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.620-1G>C	8.37:g.11412840G>C						BLK_uc003wtz.2_Splice_Site_p.K136_splice	p.K207_splice	NM_001715	NP_001706	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	8	1201	+								Q16291|Q96IN1	Splice_Site	SNP	ENST00000259089.4	37	c.620_splice	CCDS5982.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348061	0.41599	.	.	ENSG00000136573	ENST00000259089;ENST00000427279;ENST00000529894	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3337	0.87274	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BLK	11450249	1.000000	0.71417	0.997000	0.53966	0.273000	0.26683	9.330000	0.96422	2.323000	0.78572	0.457000	0.33378	.		0.627	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1		Intron	42	69	0	0	0	0	42	69				
LZTS1	11178	broad.mit.edu	37	8	20107757	20107757	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr8:20107757G>A	ENST00000381569.1	-	4	1624	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	LZTS1_ENST00000265801.6_Missense_Mutation_p.R423W|LZTS1_ENST00000522290.1_Missense_Mutation_p.R423W			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	423					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AGCTTGCCCCGCGTGTCCTTC	0.647																																						uc003wzr.2		NA																	0				ovary(1)	1						c.(1267-1269)CGG>TGG		leucine zipper, putative tumor suppressor 1							71.0	76.0	74.0					8																	20107757		2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20107757G>A	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1267C>T	8.37:g.20107757G>A	ENSP00000370981:p.Arg423Trp					LZTS1_uc010ltg.1_Missense_Mutation_p.R423W	p.R423W	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	1378	-			423					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.1267C>T	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	g	15.99	2.996746	0.54147	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.56275	0.47;0.47;0.47	4.7	3.81	0.43845	.	0.269175	0.36482	N	0.002578	T	0.70176	0.3194	M	0.78456	2.415	0.43919	D	0.996564	D;D	0.89917	1.0;1.0	D;D	0.80764	0.993;0.994	T	0.72789	-0.4187	10	0.87932	D	0	-52.933	10.8173	0.46585	0.0:0.0:0.5333:0.4667	.	423;423	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	W	423	ENSP00000370981:R423W;ENSP00000265801:R423W;ENSP00000429263:R423W	ENSP00000265801:R423W	R	-	1	2	LZTS1	20152037	0.788000	0.28762	0.902000	0.35471	0.860000	0.49131	1.220000	0.32491	0.947000	0.37659	0.556000	0.70494	CGG		0.647	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		67	113	0	0	0	0	67	113				
CSMD3	114788	broad.mit.edu	37	8	113871401	113871401	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr8:113871401C>G	ENST00000297405.5	-	11	1972	c.1728G>C	c.(1726-1728)tgG>tgC	p.W576C	CSMD3_ENST00000455883.2_Missense_Mutation_p.W472C|CSMD3_ENST00000352409.3_Missense_Mutation_p.W576C|CSMD3_ENST00000343508.3_Missense_Mutation_p.W536C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	576	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGTGATGACCCAGACACATT	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(1726-1728)TGG>TGC		CUB and Sushi multiple domains 3 isoform 1							150.0	134.0	139.0					8																	113871401		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113871401C>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1728G>C	8.37:g.113871401C>G	ENSP00000297405:p.Trp576Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.W536C|CSMD3_uc011lhx.1_Missense_Mutation_p.W472C	p.W576C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			11	1887	-			576			Extracellular (Potential).|CUB 3.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1728G>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332517	0.81801	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.67	5.67	0.87782	CUB (5);	0.000000	0.64402	D	0.000002	D	0.82328	0.5013	H	0.99336	4.52	0.80722	D	1	D;D;P	0.67145	0.996;0.995;0.913	D;D;P	0.69479	0.94;0.964;0.885	D	0.87896	0.2687	10	0.41790	T	0.15	.	19.7686	0.96352	0.0:1.0:0.0:0.0	.	472;576;536	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	536;576;472;576	ENSP00000345799:W536C;ENSP00000297405:W576C;ENSP00000412263:W472C;ENSP00000343124:W576C	ENSP00000297405:W576C	W	-	3	0	CSMD3	113940577	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.747000	0.85070	2.665000	0.90641	0.591000	0.81541	TGG		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		27	54	0	0	0	0	27	54				
SLC30A8	169026	broad.mit.edu	37	8	118170016	118170016	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr8:118170016C>G	ENST00000456015.2	+	4	505	c.505C>G	c.(505-507)Cct>Gct	p.P169A	SLC30A8_ENST00000521243.1_Missense_Mutation_p.P120A|SLC30A8_ENST00000519688.1_Missense_Mutation_p.P120A|SLC30A8_ENST00000427715.2_Missense_Mutation_p.P120A	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	169					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CCTGCTGTATCCTGATTACCA	0.552																																					Ovarian(162;1202 1922 6011 16223 52092)	uc003yoh.2		NA																	0				ovary(2)|skin(2)	4						c.(505-507)CCT>GCT		solute carrier family 30 member 8							281.0	240.0	254.0					8																	118170016		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118170016C>G		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.505C>G	8.37:g.118170016C>G	ENSP00000415011:p.Pro169Ala					SLC30A8_uc010mcz.2_Missense_Mutation_p.P120A|SLC30A8_uc011lia.1_Missense_Mutation_p.P120A|SLC30A8_uc003yog.2_Missense_Mutation_p.P120A	p.P169A	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		4	735	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		169			Extracellular (Potential).		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.505C>G	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	C	2.912	-0.225042	0.06022	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.77	2.96	0.34315	.	0.347332	0.33732	N	0.004612	T	0.64724	0.2624	M	0.85542	2.76	0.09310	N	0.999999	B	0.23249	0.082	B	0.25987	0.065	T	0.53107	-0.8485	10	0.19147	T	0.46	-11.0824	7.2594	0.26195	0.2382:0.6285:0.0:0.1332	.	169	Q8IWU4	ZNT8_HUMAN	A	120;120;120;169	ENSP00000428545:P120A;ENSP00000407505:P120A;ENSP00000431069:P120A;ENSP00000415011:P169A	ENSP00000407505:P120A	P	+	1	0	SLC30A8	118239197	0.017000	0.18338	0.304000	0.25085	0.176000	0.22953	0.572000	0.23684	0.770000	0.33336	0.655000	0.94253	CCT		0.552	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		81	116	0	0	0	0	81	116				
SMARCA2	6595	broad.mit.edu	37	9	2101568	2101568	+	Splice_Site	SNP	A	A	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr9:2101568A>G	ENST00000382203.1	+	22	3287		c.e22-1		SMARCA2_ENST00000382194.1_Splice_Site|SMARCA2_ENST00000357248.2_Splice_Site|SMARCA2_ENST00000349721.2_Splice_Site			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2						aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TCTCTTTTAAAGGAATCCTTT	0.274																																						uc003zhc.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.e22-2		SWI/SNF-related matrix-associated							39.0	43.0	41.0					9																	2101568		2201	4294	6495	SO:0001630	splice_region_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2101568A>G	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3079-1A>G	9.37:g.2101568A>G						SMARCA2_uc003zhd.2_Splice_Site_p.E1027_splice|SMARCA2_uc010mha.2_Splice_Site_p.E960_splice	p.E1027_splice	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	22	3178	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)						B1ALG3|B1ALG4|D3DRH4|D3DRH5	Splice_Site	SNP	ENST00000382203.1	37	c.3079_splice	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.357867	0.82243	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9892	0.80188	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCA2	2091568	1.000000	0.71417	0.966000	0.40874	0.975000	0.68041	8.698000	0.91311	2.180000	0.69256	0.533000	0.62120	.		0.274	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070	Intron	2	17	0	0	0	0	2	17				
TRAF2	7186	broad.mit.edu	37	9	139815644	139815644	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr9:139815644G>A	ENST00000247668.2	+	9	1167	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	TRAF2_ENST00000359662.3_Missense_Mutation_p.R424H|TRAF2_ENST00000536468.1_Missense_Mutation_p.R372H	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	372	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GTGGCTGGCCGCATACCCGCC	0.592																																						uc010nbu.2		NA																	0				ovary(1)|lung(1)|breast(1)|skin(1)	4						c.(1114-1116)CGC>CAC		TNF receptor-associated factor 2							58.0	55.0	56.0					9																	139815644		2203	4300	6503	SO:0001583	missense	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139815644G>A	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.1115G>A	9.37:g.139815644G>A	ENSP00000247668:p.Arg372His					TRAF2_uc004cjv.2_Missense_Mutation_p.R372H|TRAF2_uc011mek.1_Missense_Mutation_p.R361H|TRAF2_uc010nbw.2_Missense_Mutation_p.R347H	p.R372H	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	10	1288	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	372			MATH.		A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.1115G>A	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.672923	0.67928	.	.	ENSG00000127191	ENST00000536468;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T	0.37915	1.47;1.47;1.17	4.23	4.23	0.50019	TRAF-type (1);TRAF-like (1);MATH (2);	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	L	0.59912	1.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.91635	0.999;0.999;0.828	T	0.58115	-0.7693	10	0.46703	T	0.11	-47.377	16.7645	0.85521	0.0:0.0:1.0:0.0	.	361;347;372	Q12933-3;Q12933-4;Q12933	.;.;TRAF2_HUMAN	H	372;371;372;424;293	ENSP00000446414:R372H;ENSP00000247668:R372H;ENSP00000352685:R424H	ENSP00000247668:R372H	R	+	2	0	TRAF2	138935465	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	9.108000	0.94275	2.162000	0.67917	0.491000	0.48974	CGC		0.592	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		4	63	0	0	0	0	4	63				
PLCXD1	55344	broad.mit.edu	37	X	208211	208211	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chrX:208211G>A	ENST00000381657.2	+	5	953	c.439G>A	c.(439-441)Gag>Aag	p.E147K	PLCXD1_ENST00000399012.1_Missense_Mutation_p.E147K|PLCXD1_ENST00000381663.3_Missense_Mutation_p.E147K	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	147	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCATCCACGCGAGGTGGTCAT	0.617													g|||	0	0.0	0.0	0.0	5008	,	,		14201	0.0		0.0	False		,,,				2504	0.0					uc004cpc.2		NA																	0					0						c.(439-441)GAG>AAG		phosphatidylinositol-specific phospholipase C, X							145.0	133.0	137.0					X																	208211		2203	4296	6499	SO:0001583	missense	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:208211G>A	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"""Pseudoautosomal regions / PAR1"""	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.439G>A	X.37:g.208211G>A	ENSP00000371073:p.Glu147Lys					PLCXD1_uc011mgx.1_RNA	p.E147K	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN			5	751	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	147			PI-PLC X-box.		A2BH51|A2BH52	Missense_Mutation	SNP	ENST00000381657.2	37	c.439G>A	CCDS14103.1	.	.	.	.	.	.	.	.	.	.	.	12.74	2.029452	0.35797	.	.	ENSG00000182378	ENST00000399012;ENST00000430923;ENST00000381657;ENST00000381663;ENST00000415337;ENST00000447472	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	1.1	1.1	0.20463	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.113339	0.64402	D	0.000018	T	0.72301	0.3443	.	.	.	0.09310	N	0.999999	D	0.89917	1.0	D	0.73380	0.98	T	0.60895	-0.7172	9	0.87932	D	0	-23.0329	7.7509	0.28896	0.0:0.0:1.0:0.0	.	147	Q9NUJ7	PLCX1_HUMAN	K	147	ENSP00000381976:E147K;ENSP00000394848:E147K;ENSP00000371073:E147K;ENSP00000371079:E147K;ENSP00000399510:E147K;ENSP00000405307:E147K	ENSP00000371073:E147K	E	+	1	0	PLCXD1	148211	1.000000	0.71417	0.517000	0.27799	0.066000	0.16364	5.644000	0.67902	0.561000	0.29186	0.100000	0.15512	GAG		0.617	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		16	46	0	0	0	0	16	46				
GUCY2F	2986	broad.mit.edu	37	X	108641866	108641866	+	Missense_Mutation	SNP	A	A	C	rs113612238		TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chrX:108641866A>C	ENST00000218006.2	-	11	2478	c.2187T>G	c.(2185-2187)ttT>ttG	p.F729L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	729	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CATCTCCTGCAAAAGAACCTA	0.502																																						uc004eod.3		NA																	0				lung(4)|breast(3)|central_nervous_system(1)	8						c.(2185-2187)TTT>TTG		guanylate cyclase 2F precursor							114.0	90.0	98.0					X																	108641866		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108641866A>C	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2187T>G	X.37:g.108641866A>C	ENSP00000218006:p.Phe729Leu					GUCY2F_uc011msq.1_RNA	p.F729L	NM_001522	NP_001513	P51841	GUC2F_HUMAN			11	2463	-			729			Protein kinase.|Cytoplasmic (Potential).		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.2187T>G	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	A	4.201	0.035978	0.08148	.	.	ENSG00000101890	ENST00000218006	D	0.81908	-1.55	3.98	2.77	0.32553	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.125145	0.53938	D	0.000044	T	0.63674	0.2531	N	0.17082	0.46	0.28247	N	0.925422	B	0.10296	0.003	B	0.18263	0.021	T	0.46261	-0.9204	10	0.10111	T	0.7	.	5.1021	0.14764	0.7544:0.0:0.2456:0.0	.	729	P51841	GUC2F_HUMAN	L	729	ENSP00000218006:F729L	ENSP00000218006:F729L	F	-	3	2	GUCY2F	108528522	0.036000	0.19791	1.000000	0.80357	0.990000	0.78478	1.146000	0.31589	0.646000	0.30693	0.481000	0.45027	TTT		0.502	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		25	11	0	0	0	0	25	11				
FMR1	2332	broad.mit.edu	37	X	147014272	147014272	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chrX:147014272G>T	ENST00000370475.4	+	9	998	c.870G>T	c.(868-870)agG>agT	p.R290S	FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000439526.2_Missense_Mutation_p.R290S|FMR1_ENST00000370471.3_Missense_Mutation_p.R290S|FMR1_ENST00000370477.1_Missense_Mutation_p.R290S|FMR1_ENST00000334557.6_Missense_Mutation_p.R290S|FMR1_ENST00000370470.1_Missense_Mutation_p.R290S|FMR1_ENST00000218200.8_Missense_Mutation_p.R290S	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	290	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTTCCAAGGAACTTAGTAG	0.318									Fragile X syndrome																													uc010nst.2		NA																	0				ovary(2)|pancreas(1)	3						c.(868-870)AGG>AGT		fragile X mental retardation 1							61.0	58.0	59.0					X																	147014272		2202	4300	6502	SO:0001583	missense	2332	Fragile_X_syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147014272G>T	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.870G>T	X.37:g.147014272G>T	ENSP00000359506:p.Arg290Ser					FMR1_uc011mwz.1_Missense_Mutation_p.R290S|FMR1_uc004fcj.2_Missense_Mutation_p.R290S|FMR1_uc004fck.3_Missense_Mutation_p.R290S|FMR1_uc004fcl.3_Missense_Mutation_p.R151S|FMR1_uc011mxa.1_5'UTR	p.R290S	NM_002024	NP_002015	Q06787	FMR1_HUMAN			9	1059	+	Acute lymphoblastic leukemia(192;6.56e-05)		290			KH 2.		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	c.870G>T	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482282	0.63962	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	T;T;T;T;T;T;T	0.47869	1.7;1.7;1.7;1.7;1.2;0.83;1.7	5.68	0.902	0.19290	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.078732	0.85682	D	0.000000	T	0.64057	0.2564	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;1.0;0.999;0.997	D;D;D;D;D	0.85130	0.971;0.997;0.997;0.98;0.993	T	0.62258	-0.6892	10	0.87932	D	0	-47.4777	10.2278	0.43236	0.4369:0.0:0.5631:0.0	.	290;290;206;290;290	Q8IXW7;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	S	290	ENSP00000218200:R290S;ENSP00000359502:R290S;ENSP00000359508:R290S;ENSP00000359506:R290S;ENSP00000355115:R290S;ENSP00000395923:R290S;ENSP00000359501:R290S	ENSP00000218200:R290S	R	+	3	2	FMR1	146821964	0.999000	0.42202	0.982000	0.44146	0.942000	0.58702	0.482000	0.22276	-0.270000	0.09285	-0.525000	0.04345	AGG		0.318	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		6	38	1	0	0.00116845	0.00121353	6	38				
IPO8	10526	broad.mit.edu	37	12	30787082	30787082	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:30787082delA	ENST00000256079.4	-	23	3172	c.2834delT	c.(2833-2835)ttcfs	p.F945fs	IPO8_ENST00000544829.1_Frame_Shift_Del_p.F740fs	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	945					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TGGAGTACTGAACCCCTCAAG	0.413																																						uc001rjd.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(2833-2835)TTCfs		importin 8							229.0	178.0	195.0					12																	30787082		2203	4300	6503	SO:0001589	frameshift_variant	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30787082delA	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2834delT	12.37:g.30787082delA	ENSP00000256079:p.Phe945fs					IPO8_uc001rje.1_Frame_Shift_Del_p.F434fs|IPO8_uc010sjt.1_Frame_Shift_Del_p.F740fs	p.F945fs	NM_006390	NP_006381	O15397	IPO8_HUMAN			23	3004	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		945					B7Z7M3	Frame_Shift_Del	DEL	ENST00000256079.4	37	c.2834delT	CCDS8719.1																																																																																				0.413	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		28	38	NA	NA	NA	NA	28	38	---	---	---	---
SLC52A1	55065	broad.mit.edu	37	17	4936879	4936880	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:4936879_4936880insT	ENST00000424747.1	-	3	1616_1617	c.904_905insA	c.(904-906)agcfs	p.S302fs	SLC52A1_ENST00000254853.5_Frame_Shift_Ins_p.S302fs|SLC52A1_ENST00000512825.2_Frame_Shift_Ins_p.S302fs	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	302					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										ACAGGAAAAGCTCTGCACAGAA	0.644																																						uc002gap.3		NA																	0					0						c.(904-906)AGCfs		G protein-coupled receptor 172B precursor																																				SO:0001589	frameshift_variant	55065					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr17:4936879_4936880insT	AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"""Solute carriers"""	30225	protein-coding gene	gene with protein product	"""riboflavin transporter 1"""	607883	"""G protein-coupled receptor 172B"""	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.905dupA	17.37:g.4936880_4936880dupT	ENSP00000399979:p.Ser302fs					GPR172B_uc002gao.3_Frame_Shift_Ins_p.S302fs|GPR172B_uc010ckw.2_Frame_Shift_Ins_p.S180fs|GPR172B_uc010ckx.2_Frame_Shift_Ins_p.S302fs	p.S302fs	NM_001104577	NP_001098047	Q9NWF4	RFT_HUMAN			3	1617_1618	-			302					B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Frame_Shift_Ins	INS	ENST00000424747.1	37	c.904_905insA	CCDS11066.1																																																																																				0.644	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		19	28	NA	NA	NA	NA	19	28	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578398	7578398	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:7578398delG	ENST00000269305.4	-	5	721	c.532delC	c.(532-534)cacfs	p.H179fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.H179fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.H179fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.H179fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Frame_Shift_Del_p.H179fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.H179fs	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H178fs*69(14)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.H178fs*3(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.H85fs*69(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H46fs*>45(2)|p.C176fs*65(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H46D(1)|p.H85D(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.E171fs*61(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)	CGCTCATGGTGGGGGCAGCGC	0.642		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		98	Deletion - Frameshift(38)|Deletion - In frame(25)|Substitution - Missense(20)|Whole gene deletion(8)|Insertion - Frameshift(4)|Complex - deletion inframe(3)	p.H178fs*69(13)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(7)|p.H178P(6)|p.H178fs*3(5)|p.H178Q(5)|p.H178D(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H178_H179>QY(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H178L(1)|p.R174fs*3(1)|p.E171fs*61(1)	large_intestine(22)|breast(12)|upper_aerodigestive_tract(10)|ovary(9)|haematopoietic_and_lymphoid_tissue(6)|endometrium(6)|skin(6)|bone(5)|central_nervous_system(4)|lung(4)|oesophagus(4)|stomach(3)|liver(2)|pancreas(2)|thyroid(1)|vulva(1)|urinary_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	CD983489	TP53	D	rs68130327	c.(532-534)CACfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	47.0	47.0					17																	7578398		2203	4300	6503	SO:0001589	frameshift_variant	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.chr17:7578398delG	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.532delC	17.37:g.7578398delG	ENSP00000269305:p.His179fs	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_Frame_Shift_Del_p.H178fs|TP53_uc002gih.2_Frame_Shift_Del_p.H178fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.H46fs|TP53_uc010cng.1_Frame_Shift_Del_p.H46fs|TP53_uc002gii.1_Frame_Shift_Del_p.H46fs|TP53_uc010cnh.1_Frame_Shift_Del_p.H178fs|TP53_uc010cni.1_Frame_Shift_Del_p.H178fs|TP53_uc002gij.2_Frame_Shift_Del_p.H178fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.H85fs|TP53_uc002gio.2_Frame_Shift_Del_p.H46fs|TP53_uc010vug.1_Frame_Shift_Del_p.H139fs	p.H178fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	726	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	178		H -> L (in a sporadic cancer; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> D (in sporadic cancers; somatic mutation).|H -> R (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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.532delC	CCDS11118.1																																																																																				0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	22	NA	NA	NA	NA	23	22	---	---	---	---
SIPA1L3	23094	broad.mit.edu	37	19	38590721	38590721	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:38590721delC	ENST00000222345.6	+	5	2294	c.1785delC	c.(1783-1785)atcfs	p.I595fs		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	595					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGCTCAACATCCACTGCCTGC	0.642																																						uc002ohk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1783-1785)ATCfs		signal-induced proliferation-associated 1 like							64.0	57.0	59.0					19																	38590721		2203	4300	6503	SO:0001589	frameshift_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38590721delC	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1785delC	19.37:g.38590721delC	ENSP00000222345:p.Ile595fs						p.I595fs	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		5	2294	+			595					Q2TV87	Frame_Shift_Del	DEL	ENST00000222345.6	37	c.1785delC	CCDS33007.1																																																																																				0.642	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		36	35	NA	NA	NA	NA	36	35	---	---	---	---
PLSCR4	57088	broad.mit.edu	37	3	145913053	145913053	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr3:145913053delC	ENST00000354952.2	-	8	1043	c.803delG	c.(802-804)ggcfs	p.G268fs	PLSCR4_ENST00000446574.2_Frame_Shift_Del_p.G268fs|PLSCR4_ENST00000433593.2_Frame_Shift_Del_p.G163fs|PLSCR4_ENST00000383083.2_Frame_Shift_Del_p.G178fs|PLSCR4_ENST00000493382.1_Frame_Shift_Del_p.G268fs	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	268					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						GTTGGATATGCCATCAAGGGA	0.398																																						uc010huy.2		NA																	0					0						c.(802-804)GGCfs		phospholipid scramblase 4 isoform a							151.0	129.0	137.0					3																	145913053		2203	4300	6503	SO:0001589	frameshift_variant	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145913053delC	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.803delG	3.37:g.145913053delC	ENSP00000347038:p.Gly268fs					PLSCR4_uc010huz.2_Frame_Shift_Del_p.G268fs|PLSCR4_uc003evt.3_Frame_Shift_Del_p.G268fs|PLSCR4_uc010hva.2_Frame_Shift_Del_p.G178fs|PLSCR4_uc003evu.3_Frame_Shift_Del_p.G163fs	p.G268fs	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN			8	1132	-			268			Cytoplasmic (By similarity).		A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Frame_Shift_Del	DEL	ENST00000354952.2	37	c.803delG	CCDS3133.1																																																																																				0.398	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		36	38	NA	NA	NA	NA	36	38	---	---	---	---
CDO1	1036	broad.mit.edu	37	5	115148957	115148958	+	Splice_Site	INS	-	-	A	rs571899483	byFrequency	TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:115148957_115148958insA	ENST00000250535.4	-	2	727		c.e2-2		CDO1_ENST00000502631.1_Splice_Site	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1						cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|inflammatory response (GO:0006954)|L-cysteine catabolic process (GO:0019448)|lactation (GO:0007595)|oxidation-reduction process (GO:0055114)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid biosynthetic process (GO:0000097)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)	cytosol (GO:0005829)	cysteine dioxygenase activity (GO:0017172)|ferrous iron binding (GO:0008198)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)	CGGGTATACCTAAAAAAAAACA	0.332													?|AAAAAAAAA|AAAAAAAAAA|unsure	5	0.000998403	0.0	0.0	5008	,	,		16421	0.002		0.0	False		,,,				2504	0.0031					uc003krg.2		NA																	1	Unknown(1)		skin(1)	large_intestine(1)|skin(1)	2						c.e2-1		cysteine dioxygenase	L-Cysteine(DB00151)|NADH(DB00157)			7,4257		0,7,2125						5.8	1.0			77	13,8235		0,13,4111	no	splice-3	CDO1	NM_001801.2		0,20,6236	A1A1,A1R,RR		0.1576,0.1642,0.1598				20,12492				SO:0001630	splice_region_variant	1036				inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity	g.chr5:115148957_115148958insA		CCDS4121.1	5q23.2	2013-06-11	2013-06-11		ENSG00000129596	ENSG00000129596	1.13.11.20		1795	protein-coding gene	gene with protein product		603943	"""cysteine dioxygenase, type I"""			7524679	Standard	NM_001801		Approved		uc003krg.3	Q16878	OTTHUMG00000128891	ENST00000250535.4:c.171-2->T	5.37:g.115148966_115148966dupA							p.R57_splice	NM_001801	NP_001792	Q16878	CDO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	2	482	-		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)						B2RAK4|P78513|Q6FHZ8|Q8TB64	Splice_Site	INS	ENST00000250535.4	37	c.171_splice	CCDS4121.1																																																																																				0.332	CDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250853.2	NM_001801	Intron	8	21	NA	NA	NA	NA	8	21	---	---	---	---
LGI3	203190	broad.mit.edu	37	8	22013886	22013889	+	Frame_Shift_Del	DEL	GCCT	GCCT	-			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr8:22013886_22013889delGCCT	ENST00000306317.2	-	1	456_459	c.167_170delAGGC	c.(166-171)aaggcgfs	p.KA56fs	LGI3_ENST00000424267.2_Frame_Shift_Del_p.KA56fs	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	56	LRRNT.				exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCTGGGCACCGCCTTTGAGTCCAC	0.672																																						uc003xav.2		NA																	0				ovary(1)	1						c.(166-171)AAGGCGfs		leucine-rich repeat LGI family, member 3																																				SO:0001589	frameshift_variant	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22013886_22013889delGCCT	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.167_170delAGGC	8.37:g.22013886_22013889delGCCT	ENSP00000302297:p.Lys56fs					SFTPC_uc003xaw.3_5'Flank|LGI3_uc010ltu.2_Frame_Shift_Del_p.K56fs	p.K56fs	NM_139278	NP_644807	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	1	456_459	-			56_57			LRRNT.		A5PLP2|Q86TL4|Q8N296	Frame_Shift_Del	DEL	ENST00000306317.2	37	c.167_170delAGGC	CCDS6025.1																																																																																				0.672	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			8	23	NA	NA	NA	NA	8	23	---	---	---	---
