#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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FTHL17	53940	broad.mit.edu	37	X	31089693	31089693	+	Silent	SNP	G	G	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chrX:31089693G>A	ENST00000359202.3	-	1	477	c.378C>T	c.(376-378)ggC>ggT	p.G126G		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	126	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GCTGGGGGTCGCCCTTCTCCA	0.607																																						ENST00000359202.3																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						c.(376-378)ggC>ggT		ferritin, heavy polypeptide-like 17							75.0	60.0	65.0					X																	31089693		2202	4300	6502	SO:0001819	synonymous_variant	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089693G>A	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.378C>T	X.37:g.31089693G>A							p.G126G	NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN			1	477	-			126			Ferritin-like diiron.		Q6NT24|Q6NTE2	Silent	SNP	ENST00000359202.3	37	c.378C>T	CCDS14227.1																																																																																				0.607	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		27	40	0	0	0	1	0	27	40				
TRHDE	29953	broad.mit.edu	37	12	72956810	72956810	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr12:72956810C>T	ENST00000261180.4	+	9	1993	c.1897C>T	c.(1897-1899)Cag>Tag	p.Q633*	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	633					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACTTAAACTTCAGAATAACAG	0.274																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(1897-1899)Cag>Tag		thyrotropin-releasing hormone degrading enzyme							74.0	80.0	78.0					12																	72956810		2203	4292	6495	SO:0001587	stop_gained	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72956810C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1897C>T	12.37:g.72956810C>T	ENSP00000261180:p.Gln633*					TRHDE_ENST00000549138.1_3'UTR	p.Q633*	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			9	1993	+			633					A5PL19|Q6UWJ4	Nonsense_Mutation	SNP	ENST00000261180.4	37	c.1897C>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	37	5.992750	0.97179	.	.	ENSG00000072657	ENST00000261180	.	.	.	6.17	5.27	0.74061	.	1.137960	0.06297	N	0.700240	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	9.3126	0.37915	0.1174:0.6239:0.2588:0.0	.	.	.	.	X	633	.	ENSP00000261180:Q633X	Q	+	1	0	TRHDE	71243077	0.967000	0.33354	0.977000	0.42913	0.498000	0.33706	1.145000	0.31577	2.941000	0.99782	0.655000	0.94253	CAG		0.274	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		33	58	0	0	0	1	0	33	58				
AKT1	207	broad.mit.edu	37	14	105242025	105242025	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr14:105242025C>G	ENST00000554581.1	-	4	1879	c.399G>C	c.(397-399)gaG>gaC	p.E133D	AKT1_ENST00000554192.1_5'Flank|AKT1_ENST00000544168.1_Missense_Mutation_p.E71D|AKT1_ENST00000349310.3_Missense_Mutation_p.E133D|AKT1_ENST00000407796.2_Missense_Mutation_p.E133D|AKT1_ENST00000402615.2_Missense_Mutation_p.E133D|AKT1_ENST00000554848.1_Missense_Mutation_p.E133D|AKT1_ENST00000554585.1_5'Flank|AKT1_ENST00000555528.1_Missense_Mutation_p.E133D|AKT1_ENST00000555458.1_5'Flank			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	133					activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	ACACCTCCATCTCTTCAGCCC	0.647		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	ENST00000554581.1		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"""breast, colorectal, ovarian, NSCLC"""		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(397-399)gaG>gaC		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						136.0	102.0	114.0					14																	105242025		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105242025C>G	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.399G>C	14.37:g.105242025C>G	ENSP00000451828:p.Glu133Asp					AKT1_ENST00000407796.2_Missense_Mutation_p.E133D|AKT1_ENST00000402615.2_Missense_Mutation_p.E133D|AKT1_ENST00000349310.3_Missense_Mutation_p.E133D|AKT1_ENST00000555528.1_Missense_Mutation_p.E133D|AKT1_ENST00000554848.1_Missense_Mutation_p.E133D|AKT1_ENST00000544168.1_Missense_Mutation_p.E71D	p.E133D			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	4	1879	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	133					B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.399G>C	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745688	0.30955	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000544168;ENST00000554848;ENST00000555380	T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	3.9	3.9	0.45041	.	0.060573	0.64402	D	0.000005	T	0.21509	0.0518	N	0.08118	0	0.44635	D	0.997619	B	0.02656	0.0	B	0.04013	0.001	T	0.09862	-1.0655	10	0.18276	T	0.48	.	4.7077	0.12858	0.0:0.707:0.0:0.293	.	133	P31749	AKT1_HUMAN	D	133;133;133;133;133;71;133;71	ENSP00000451828:E133D;ENSP00000384293:E133D;ENSP00000270202:E133D;ENSP00000385326:E133D;ENSP00000450688:E133D;ENSP00000443897:E71D;ENSP00000451166:E133D;ENSP00000451290:E71D	ENSP00000270202:E133D	E	-	3	2	AKT1	104313070	0.967000	0.33354	1.000000	0.80357	0.937000	0.57800	-0.044000	0.12023	2.001000	0.58596	0.448000	0.29417	GAG		0.647	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		22	24	0	0	0	1	0	22	24				
APPL1	26060	broad.mit.edu	37	3	57282228	57282228	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr3:57282228A>G	ENST00000288266.3	+	10	859	c.712A>G	c.(712-714)Agg>Ggg	p.R238G		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	238	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		CAGTGTTCGCAGGGAAATGGA	0.408																																						ENST00000288266.3																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(712-714)Agg>Ggg		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1							114.0	105.0	108.0					3																	57282228		2203	4300	6503	SO:0001583	missense	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57282228A>G	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.712A>G	3.37:g.57282228A>G	ENSP00000288266:p.Arg238Gly						p.R238G	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	10	859	+			238			Required for RAB5A binding.		Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	c.712A>G	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.830037	0.32329	.	.	ENSG00000157500	ENST00000288266	T	0.04654	3.58	6.06	6.06	0.98353	.	0.137575	0.64402	D	0.000006	T	0.05914	0.0154	L	0.38838	1.175	0.48236	D	0.999613	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43048	-0.9415	10	0.22109	T	0.4	-6.4887	16.6245	0.84952	1.0:0.0:0.0:0.0	.	221;238	B4DQX8;Q9UKG1	.;DP13A_HUMAN	G	238	ENSP00000288266:R238G	ENSP00000288266:R238G	R	+	1	2	APPL1	57257268	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.884000	0.63135	2.323000	0.78572	0.528000	0.53228	AGG		0.408	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		6	67	0	0	0	1	0	6	67				
CCDC7	79741	broad.mit.edu	37	10	33165316	33165316	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr10:33165316T>C	ENST00000375030.2	+	23	2377	c.1759T>C	c.(1759-1761)Ttt>Ctt	p.F587L	C10orf68_ENST00000375028.3_Missense_Mutation_p.F632L|C10orf68_ENST00000375025.4_Missense_Mutation_p.F692L			Q9H943	CJ068_HUMAN		628										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ACACCCATACTTTTGAGAATG	0.318																																						ENST00000375030.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.(1759-1761)Ttt>Ctt		chromosome 10 open reading frame 68							76.0	74.0	75.0					10																	33165316		2203	4300	6503	SO:0001583	missense	79741							g.chr10:33165316T>C																												ENST00000375030.2:c.1759T>C	10.37:g.33165316T>C	ENSP00000364170:p.Phe587Leu					C10orf68_ENST00000375028.3_Missense_Mutation_p.F632L|C10orf68_ENST00000375025.4_Missense_Mutation_p.F692L	p.F587L			Q9H943	CJ068_HUMAN			23	2377	+			628					B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375030.2	37	c.1759T>C		.	.	.	.	.	.	.	.	.	.	.	16.72	3.200741	0.58126	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.28666	1.63;1.61;1.6;1.6	3.48	2.36	0.29203	.	.	.	.	.	T	0.15132	0.0365	N	0.08118	0	0.09310	N	1	P;P;P;P	0.41393	0.518;0.748;0.518;0.748	B;B;B;B	0.40009	0.146;0.316;0.146;0.237	T	0.09143	-1.0688	9	0.87932	D	0	.	4.0778	0.09912	0.0:0.189:0.0:0.811	.	609;628;632;587	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	L	628;587;632;692;604	ENSP00000303710:F628L;ENSP00000364170:F587L;ENSP00000364168:F632L;ENSP00000364165:F692L	ENSP00000303710:F628L	F	+	1	0	C10orf68	33205322	0.000000	0.05858	0.002000	0.10522	0.214000	0.24535	0.052000	0.14163	0.729000	0.32403	0.533000	0.62120	TTT		0.318	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			3	40	0	0	0	1	0	3	40				
HCP5	10866	broad.mit.edu	37	6	31431643	31431643	+	RNA	SNP	C	C	T	rs192776040	byFrequency	TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr6:31431643C>T	ENST00000414046.2	+	0	715					NR_040662.1		Q6MZN7	HCP5_HUMAN	HLA complex P5 (non-protein coding)						defense response (GO:0006952)					urinary_tract(1)	1						gggttccacacgaactcctcc	0.572													t|||	38	0.00758786	0.0	0.0	5008	,	,		18827	0.0218		0.0	False		,,,				2504	0.0164					ENST00000414046.2																			0				urinary_tract(1)	1												0,4406		0,0,2203	78.0	85.0	82.0				0.0	6		82	1,8599		0,1,4299	no	utr-3	HCP5	NM_006674.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			31431643	1,13005	2203	4300	6503			0				defense response			g.chr6:31431643C>T	D88650		6p21.3	2012-10-16	2011-08-02		ENSG00000206337	ENSG00000206337		"""Long non-coding RNAs"""	21659	non-coding RNA	RNA, long non-coding		604676	"""HLA complex P5"""			8462994, 10199916	Standard	NR_040662		Approved	D6S2650E, P5-1	uc003ntl.3	Q6MZN7	OTTHUMG00000031282		6.37:g.31431643C>T								NR_040662.1		Q6MZN7	HCP5_HUMAN			0	715	+								Q04490	RNA	SNP	ENST00000414046.2	37																																																																																						0.572	HCP5-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000076614.4	NR_040662		7	103	0	0	0	1	0	7	103				
ZFX	7543	broad.mit.edu	37	X	24226355	24226355	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chrX:24226355G>A	ENST00000379177.1	+	9	1388	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	ZFX_ENST00000539115.1_Missense_Mutation_p.E92K|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000304543.5_Missense_Mutation_p.E321K|ZFX_ENST00000540034.1_Missense_Mutation_p.E360K|ZFX_ENST00000338565.3_Missense_Mutation_p.E271K|ZFX_ENST00000379188.3_Missense_Mutation_p.E321K	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	321					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AATCGCTGACGAAGTTTATAT	0.438																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(961-963)Gaa>Aaa		zinc finger protein, X-linked							53.0	52.0	52.0					X																	24226355		2203	4300	6503	SO:0001583	missense	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24226355G>A		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.961G>A	X.37:g.24226355G>A	ENSP00000368475:p.Glu321Lys					ZFX_ENST00000304543.5_Missense_Mutation_p.E321K|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000539115.1_Missense_Mutation_p.E92K|ZFX_ENST00000540034.1_Missense_Mutation_p.E360K|ZFX_ENST00000338565.3_Missense_Mutation_p.E271K|ZFX_ENST00000379188.3_Missense_Mutation_p.E321K	p.E321K	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			9	1388	+			321					B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	c.961G>A	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602405	0.87157	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565;ENST00000545937	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.53	5.53	0.82687	Transcriptional activator, Zfx / Zfy domain (1);	0.000000	0.64402	D	0.000002	T	0.66839	0.2830	L	0.58810	1.83	0.80722	D	1	D;B;D;D	0.89917	0.997;0.165;0.996;1.0	P;B;D;D	0.81914	0.887;0.023;0.983;0.995	T	0.67554	-0.5641	10	0.56958	D	0.05	-0.3797	18.7183	0.91684	0.0:0.0:1.0:0.0	.	360;90;321;325	B9EG97;F5GYV7;P17010;Q59EB9	.;.;ZFX_HUMAN;.	K	92;321;90;321;321;360;271;116	ENSP00000438233:E92K;ENSP00000368486:E321K;ENSP00000368475:E321K;ENSP00000304985:E321K;ENSP00000441382:E360K;ENSP00000343384:E271K	ENSP00000304985:E321K	E	+	1	0	ZFX	24136276	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.320000	0.79064	2.452000	0.82932	0.600000	0.82982	GAA		0.438	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		27	30	0	0	0	1	0	27	30				
ARID3A	1820	broad.mit.edu	37	19	929821	929821	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr19:929821C>T	ENST00000263620.3	+	2	620	c.293C>T	c.(292-294)aCa>aTa	p.T98I	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	98	Glu-rich.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGAGGGGACACCGGGCTCA	0.721																																					Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(292-294)aCa>aTa		AT rich interactive domain 3A (BRIGHT-like)							10.0	15.0	13.0					19																	929821		1986	3955	5941	SO:0001583	missense	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:929821C>T	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.293C>T	19.37:g.929821C>T	ENSP00000263620:p.Thr98Ile						p.T98I	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	620	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	98			Glu-rich.		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	ENST00000263620.3	37	c.293C>T	CCDS12050.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651000	0.29336	.	.	ENSG00000116017	ENST00000263620	T	0.38560	1.13	3.33	1.11	0.20524	.	4.873430	0.01066	N	0.004720	T	0.28830	0.0715	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14062	-1.0486	10	0.39692	T	0.17	-5.1549	3.9578	0.09398	0.4169:0.4618:0.0:0.1213	.	98	Q99856	ARI3A_HUMAN	I	98	ENSP00000263620:T98I	ENSP00000263620:T98I	T	+	2	0	ARID3A	880821	.	.	0.001000	0.08648	0.030000	0.12068	.	.	0.135000	0.18707	-0.339000	0.08088	ACA		0.721	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		2	0	0	0	0	1	0	2	0				
OR6C75	390323	broad.mit.edu	37	12	55759422	55759422	+	Silent	SNP	C	C	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr12:55759422C>T	ENST00000343399.3	+	1	528	c.528C>T	c.(526-528)atC>atT	p.I176I		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ATCATTTTATCTGTGACTCTT	0.428																																						ENST00000343399.3																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(526-528)atC>atT		olfactory receptor, family 6, subfamily C, member 75							168.0	145.0	152.0					12																	55759422		2203	4300	6503	SO:0001819	synonymous_variant	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759422C>T		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.528C>T	12.37:g.55759422C>T							p.I176I	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	528	+			176						Silent	SNP	ENST00000343399.3	37	c.528C>T	CCDS31820.1																																																																																				0.428	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			22	35	0	0	0	1	0	22	35				
CHD6	84181	broad.mit.edu	37	20	40033972	40033972	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr20:40033972T>C	ENST00000373233.3	-	37	7586	c.7409A>G	c.(7408-7410)aAt>aGt	p.N2470S	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2470					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AATCAGTCCATTCATGAACAG	0.607																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(7408-7410)aAt>aGt		chromodomain helicase DNA binding protein 6							72.0	69.0	70.0					20																	40033972		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40033972T>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7409A>G	20.37:g.40033972T>C	ENSP00000362330:p.Asn2470Ser					CHD6_ENST00000480022.1_5'UTR	p.N2470S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			37	7586	-		Myeloproliferative disorder(115;0.00425)	2470					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.7409A>G	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	18.50	3.636731	0.67130	.	.	ENSG00000124177	ENST00000373233	D	0.93307	-3.2	5.65	5.65	0.86999	.	0.179093	0.39759	N	0.001273	D	0.93874	0.8040	M	0.74647	2.275	0.80722	D	1	D	0.62365	0.991	P	0.46659	0.523	D	0.94516	0.7723	10	0.72032	D	0.01	-28.0061	16.0399	0.80667	0.0:0.0:0.0:1.0	.	2470	Q8TD26	CHD6_HUMAN	S	2470	ENSP00000362330:N2470S	ENSP00000362330:N2470S	N	-	2	0	CHD6	39467386	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	6.019000	0.70818	2.371000	0.80710	0.533000	0.62120	AAT		0.607	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			29	28	0	0	0	1	0	29	28				
CCDC114	93233	broad.mit.edu	37	19	48807367	48807367	+	Silent	SNP	C	C	A	rs28582401	byFrequency	TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr19:48807367C>A	ENST00000315396.7	-	7	1267	c.585G>T	c.(583-585)ctG>ctT	p.L195L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	195					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CGCGCTCCCGCAGCAAGCCCA	0.682													C|||	771	0.153954	0.1422	0.0965	5008	,	,		15049	0.124		0.1988	False		,,,				2504	0.1953					ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(583-585)ctG>ctT		coiled-coil domain containing 114		C		744,3662	296.7+/-284.4	66,612,1525	43.0	43.0	43.0		585	-0.5	1.0	19	dbSNP_125	43	1589,7011	285.2+/-297.1	159,1271,2870	no	coding-synonymous	CCDC114	NM_144577.3		225,1883,4395	AA,AC,CC		18.4767,16.8861,17.9379		195/671	48807367	2333,10673	2203	4300	6503	SO:0001819	synonymous_variant	93233							g.chr19:48807367C>A	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.585G>T	19.37:g.48807367C>A							p.L195L	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	7	1267	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	195					Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	c.585G>T	CCDS12714.2																																																																																				0.682	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		5	57	1	0	3.59834e-05	1	3.87513e-05	5	57				
DPF3	8110	broad.mit.edu	37	14	73220067	73220067	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr14:73220067C>T	ENST00000556509.1	-	3	205	c.206G>A	c.(205-207)gGc>gAc	p.G69D	DPF3_ENST00000541685.1_Missense_Mutation_p.G69D|DPF3_ENST00000546183.1_Missense_Mutation_p.G79D	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	69					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ATACAGCTGGCCCGGGGCAAG	0.542																																						ENST00000541685.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22						c.(205-207)gGc>gAc		D4, zinc and double PHD fingers, family 3							38.0	37.0	37.0					14																	73220067		1871	4110	5981	SO:0001583	missense	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73220067C>T	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.206G>A	14.37:g.73220067C>T	ENSP00000450518:p.Gly69Asp					DPF3_ENST00000556509.1_Missense_Mutation_p.G69D|DPF3_ENST00000546183.1_Missense_Mutation_p.G79D	p.G69D	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	3	218	-			69					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37	c.206G>A		.	.	.	.	.	.	.	.	.	.	C	25.1	4.601567	0.87055	.	.	ENSG00000205683	ENST00000540281;ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.91521	-2.86;-0.39;-0.41	5.58	5.58	0.84498	.	.	.	.	.	D	0.94840	0.8333	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.95102	0.8231	9	0.87932	D	0	.	16.4812	0.84158	0.0:1.0:0.0:0.0	.	79;69;69	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	D	69;69;68;69;79	ENSP00000450518:G69D;ENSP00000441640:G69D;ENSP00000444662:G79D	ENSP00000381791:G124D	G	-	2	0	DPF3	72289820	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	5.726000	0.68515	2.633000	0.89246	0.561000	0.74099	GGC		0.542	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			3	21	0	0	0	1	0	3	21				
HCFC1	3054	broad.mit.edu	37	X	153229727	153229727	+	Silent	SNP	C	C	T	rs202217162		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chrX:153229727C>T	ENST00000310441.7	-	3	1317	c.351G>A	c.(349-351)cgG>cgA	p.R117R	HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Silent_p.R117R|HCFC1_ENST00000369984.4_Silent_p.R117R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	117					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCACTCCCACCGGCTCGCCT	0.597																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(349-351)cgG>cgA		host cell factor C1 (VP16-accessory protein)							114.0	119.0	117.0					X																	153229727		1933	4112	6045	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153229727C>T		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.351G>A	X.37:g.153229727C>T						HCFC1_ENST00000354233.3_Silent_p.R117R|HCFC1_ENST00000369984.4_Silent_p.R117R	p.R117R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			3	1317	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		117					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.351G>A	CCDS44020.1																																																																																				0.597	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		6	117	0	0	0	1	0	6	117				
HSH2D	84941	broad.mit.edu	37	19	16268601	16268601	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr19:16268601G>A	ENST00000253680.6	+	9	1586	c.1055G>A	c.(1054-1056)tGc>tAc	p.C352Y	HSH2D_ENST00000397372.4_Missense_Mutation_p.C262Y|HSH2D_ENST00000593154.2_3'UTR|HSH2D_ENST00000588246.1_3'UTR			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	352					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CCTGGGTACTGCTAGAGAACA	0.612																																						ENST00000253680.6																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						c.(1054-1056)tGc>tAc		hematopoietic SH2 domain containing							21.0	25.0	24.0					19																	16268601		1951	4146	6097	SO:0001583	missense	84941					cytoplasm|nucleus		g.chr19:16268601G>A	AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"""SH2 domain containing"""	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.1055G>A	19.37:g.16268601G>A	ENSP00000253680:p.Cys352Tyr					HSH2D_ENST00000588246.1_3'UTR|HSH2D_ENST00000397372.4_Missense_Mutation_p.C262Y|HSH2D_ENST00000593154.2_3'UTR	p.C352Y			Q96JZ2	HSH2D_HUMAN			9	1586	+			352					B5ME72|Q6ZNG7	Missense_Mutation	SNP	ENST00000253680.6	37	c.1055G>A		.	.	.	.	.	.	.	.	.	.	G	12.42	1.932920	0.34096	.	.	ENSG00000196684	ENST00000397372;ENST00000253680	T	0.58358	0.34	3.5	2.4	0.29515	.	0.000000	0.34580	N	0.003848	T	0.61085	0.2319	.	.	.	0.27857	N	0.940535	D	0.62365	0.991	P	0.58577	0.841	T	0.55121	-0.8190	9	0.87932	D	0	.	7.866	0.29537	0.0:0.0:0.7533:0.2467	.	352	Q96JZ2	HSH2D_HUMAN	Y	262;352	ENSP00000253680:C352Y	ENSP00000253680:C352Y	C	+	2	0	HSH2D	16129601	1.000000	0.71417	0.996000	0.52242	0.303000	0.27691	1.763000	0.38461	0.982000	0.38575	0.462000	0.41574	TGC		0.612	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855		7	4	0	0	0	1	0	7	4				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	31	0	0	0	1	0	30	31				
PLA2G2A	5320	broad.mit.edu	37	1	20302255	20302255	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr1:20302255T>C	ENST00000375111.3	-	6	645	c.374A>G	c.(373-375)tAc>tGc	p.Y125C	PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Missense_Mutation_p.Y125C	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	125					defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of epithelial cell proliferation (GO:0050680)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidic acid metabolic process (GO:0046473)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|small molecule metabolic process (GO:0044281)|somatic stem cell maintenance (GO:0035019)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|phospholipid binding (GO:0005543)			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Diclofenac(DB00586)|Ginkgo biloba(DB01381)|Indomethacin(DB00328)|Suramin(DB04786)	CTTTTTATTGTAGGTCGTCTT	0.458																																						ENST00000375111.3																			0				central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9						c.(373-375)tAc>tGc		phospholipase A2, group IIA (platelets, synovial fluid)							172.0	162.0	165.0					1																	20302255		2203	4300	6503	SO:0001583	missense	5320				defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	g.chr1:20302255T>C	BC005919	CCDS201.1	1p35	2008-09-19			ENSG00000188257	ENSG00000188257	3.1.1.4		9031	protein-coding gene	gene with protein product		172411		PLA2B, PLA2L		8838795	Standard	NM_000300		Approved		uc010odb.2	P14555	OTTHUMG00000002699	ENST00000375111.3:c.374A>G	1.37:g.20302255T>C	ENSP00000364252:p.Tyr125Cys					PLA2G2A_ENST00000400520.3_Missense_Mutation_p.Y125C|PLA2G2A_ENST00000496748.1_5'UTR	p.Y125C	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	645	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	125					A8K5I7|Q6DN24|Q6IBD9|Q9UCD2	Missense_Mutation	SNP	ENST00000375111.3	37	c.374A>G	CCDS201.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.425081	0.43020	.	.	ENSG00000188257	ENST00000400520;ENST00000375111	T;T	0.44881	0.91;0.91	4.9	3.75	0.43078	Phospholipase A2 (3);	0.000000	0.44097	D	0.000486	T	0.71728	0.3374	H	0.96175	3.78	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66436	-0.5924	10	0.87932	D	0	.	8.7455	0.34583	0.0:0.0:0.1919:0.8081	.	125	P14555	PA2GA_HUMAN	C	125	ENSP00000383364:Y125C;ENSP00000364252:Y125C	ENSP00000364252:Y125C	Y	-	2	0	PLA2G2A	20174842	0.727000	0.28069	0.032000	0.17829	0.004000	0.04260	1.474000	0.35398	0.970000	0.38263	0.460000	0.39030	TAC		0.458	PLA2G2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007675.1	NM_000300		41	42	0	0	0	1	0	41	42				
MLYCD	23417	broad.mit.edu	37	16	83948837	83948837	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr16:83948837G>C	ENST00000262430.4	+	5	1244	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q	RP11-505K9.4_ENST00000561562.1_Intron|RP11-505K9.4_ENST00000566309.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	409	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CCTGTATGGAGAGAAGCACCG	0.647																																						ENST00000262430.4																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(1225-1227)Gag>Cag		malonyl-CoA decarboxylase							51.0	58.0	56.0					16																	83948837		2120	4236	6356	SO:0001583	missense	23417				acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity	g.chr16:83948837G>C	AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.1225G>C	16.37:g.83948837G>C	ENSP00000262430:p.Glu409Gln					RP11-505K9.4_ENST00000561562.1_RNA	p.E409Q	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN			5	1244	+			409					Q9UNU5|Q9Y3F2	Missense_Mutation	SNP	ENST00000262430.4	37	c.1225G>C	CCDS42206.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550272	0.86127	.	.	ENSG00000103150	ENST00000262430	D	0.91740	-2.9	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.97099	0.9052	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98124	1.0427	10	0.72032	D	0.01	-41.3279	17.2055	0.86916	0.0:0.0:1.0:0.0	.	409	O95822	DCMC_HUMAN	Q	409	ENSP00000262430:E409Q	ENSP00000262430:E409Q	E	+	1	0	MLYCD	82506338	1.000000	0.71417	0.942000	0.38095	0.824000	0.46624	7.419000	0.80179	2.387000	0.81309	0.511000	0.50034	GAG		0.647	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		45	44	0	0	0	1	0	45	44				
RAD23B	5887	broad.mit.edu	37	9	110074019	110074019	+	Splice_Site	SNP	G	G	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr9:110074019G>T	ENST00000358015.3	+	5	904		c.e5+1		RAD23B_ENST00000416373.2_Splice_Site	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)						DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGTGCACTTGGTAAGTATCTG	0.308								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358015.3																			0				breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.e5+1	Direct reversal of damage;Nucleotide excision repair (NER)	RAD23 homolog B (S. cerevisiae)							72.0	72.0	72.0					9																	110074019		2203	4298	6501	SO:0001630	splice_region_variant	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110074019G>T		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.553+1G>T	9.37:g.110074019G>T						RAD23B_ENST00000416373.2_Splice_Site		NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN			5	904	+								B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Splice_Site	SNP	ENST00000358015.3	37		CCDS6769.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950116	0.73787	.	.	ENSG00000119318	ENST00000358015;ENST00000374678;ENST00000416373;ENST00000457811	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8548	0.92247	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAD23B	109113840	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.786000	0.75094	2.520000	0.84964	0.650000	0.86243	.		0.308	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874	Intron	15	19	1	0	3.32936e-07	1	3.77927e-07	15	19				
ZFYVE1	53349	broad.mit.edu	37	14	73491207	73491207	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr14:73491207G>A	ENST00000556143.1	-	2	730	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	ZFYVE1_ENST00000553891.1_Nonsense_Mutation_p.Q4*|ZFYVE1_ENST00000318876.5_Nonsense_Mutation_p.Q4*	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	4					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GGGGAAGTCTGGGCACTCATA	0.527																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(10-12)Cag>Tag		zinc finger, FYVE domain containing 1							47.0	41.0	43.0					14																	73491207		2203	4300	6503	SO:0001587	stop_gained	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73491207G>A	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.10C>T	14.37:g.73491207G>A	ENSP00000450742:p.Gln4*					ZFYVE1_ENST00000318876.5_Nonsense_Mutation_p.Q4*|ZFYVE1_ENST00000553891.1_Nonsense_Mutation_p.Q4*	p.Q4*	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	2	730	-		all_lung(585;1.33e-09)	4					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Nonsense_Mutation	SNP	ENST00000556143.1	37	c.10C>T	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	41	9.009203	0.99035	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	.	.	.	5.66	5.66	0.87406	.	0.259562	0.39083	N	0.001477	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-8.9302	19.8043	0.96521	0.0:0.0:1.0:0.0	.	.	.	.	X	4	.	ENSP00000326921:Q4X	Q	-	1	0	ZFYVE1	72560960	1.000000	0.71417	0.997000	0.53966	0.599000	0.36880	9.023000	0.93683	2.695000	0.91970	0.585000	0.79938	CAG		0.527	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		5	33	0	0	0	1	0	5	33				
C2CD3	26005	broad.mit.edu	37	11	73834059	73834059	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr11:73834059G>C	ENST00000334126.7	-	8	1565	c.1339C>G	c.(1339-1341)Ctg>Gtg	p.L447V	C2CD3_ENST00000313663.7_Missense_Mutation_p.L447V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	447					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AAATTCTCCAGAAGACTCTGG	0.428																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(1339-1341)Ctg>Gtg		C2 calcium-dependent domain containing 3							66.0	68.0	67.0					11																	73834059		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73834059G>C	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1339C>G	11.37:g.73834059G>C	ENSP00000334379:p.Leu447Val					C2CD3_ENST00000313663.7_Missense_Mutation_p.L447V	p.L447V			Q4AC94	C2CD3_HUMAN			8	1565	-	Breast(11;4.16e-06)		447					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.1339C>G		.	.	.	.	.	.	.	.	.	.	G	15.15	2.748616	0.49257	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.33216	1.42;1.54	5.52	1.62	0.23740	.	0.000000	0.64402	D	0.000003	T	0.48926	0.1527	M	0.68952	2.095	0.30119	N	0.805861	D;D	0.89917	1.0;0.998	D;D	0.83275	0.994;0.996	T	0.50224	-0.8853	10	0.87932	D	0	-0.214	9.6512	0.39899	0.344:0.0:0.656:0.0	.	447;447	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	V	447	ENSP00000334379:L447V;ENSP00000323339:L447V	ENSP00000323339:L447V	L	-	1	2	C2CD3	73511707	0.998000	0.40836	0.998000	0.56505	0.635000	0.38103	2.494000	0.45329	0.047000	0.15862	-0.258000	0.10820	CTG		0.428	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		25	30	0	0	0	1	0	25	30				
PDIA5	10954	broad.mit.edu	37	3	122808075	122808075	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr3:122808075G>A	ENST00000316218.7	+	2	198	c.103G>A	c.(103-105)Gac>Aac	p.D35N		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	35					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		GAGAATCTCTGACCCCAAGGA	0.512																																						ENST00000316218.7																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(103-105)Gac>Aac		protein disulfide isomerase family A, member 5							121.0	117.0	119.0					3																	122808075		2203	4300	6503	SO:0001583	missense	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122808075G>A	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.103G>A	3.37:g.122808075G>A	ENSP00000323313:p.Asp35Asn						p.D35N	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	2	198	+			35					D3DN95|Q9BV43	Missense_Mutation	SNP	ENST00000316218.7	37	c.103G>A	CCDS3020.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501352	0.44455	.	.	ENSG00000065485	ENST00000316218	T	0.05580	3.42	5.13	4.25	0.50352	Thioredoxin-like fold (1);	0.097336	0.64402	D	0.000001	T	0.12135	0.0295	L	0.50333	1.59	0.48135	D	0.999599	D	0.61080	0.989	P	0.55749	0.783	T	0.11891	-1.0569	10	0.26408	T	0.33	.	9.6741	0.40030	0.094:0.0:0.906:0.0	.	35	Q14554	PDIA5_HUMAN	N	35	ENSP00000323313:D35N	ENSP00000323313:D35N	D	+	1	0	PDIA5	124290765	1.000000	0.71417	0.970000	0.41538	0.089000	0.18198	7.299000	0.78831	1.535000	0.49220	-0.136000	0.14681	GAC		0.512	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		36	54	0	0	0	1	0	36	54				
MPI	4351	broad.mit.edu	37	15	75182420	75182420	+	Silent	SNP	C	C	T	rs149477499		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr15:75182420C>T	ENST00000352410.4	+	1	73	c.6C>T	c.(4-6)gcC>gcT	p.A2A	MPI_ENST00000565576.1_Silent_p.A2A|MPI_ENST00000563422.1_Silent_p.A2A|MPI_ENST00000566377.1_Silent_p.A2A|MPI_ENST00000564003.1_5'UTR|MPI_ENST00000563786.1_5'UTR|MPI_ENST00000562606.1_5'UTR|MPI_ENST00000535694.1_5'UTR|MPI_ENST00000323744.6_Silent_p.A2A			P34949	MPI_HUMAN	mannose phosphate isomerase	2					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CGAGCATGGCCGCTCCGCGAG	0.662																																						ENST00000352410.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(4-6)gcC>gcT		mannose phosphate isomerase		C		1,4393		0,1,2196	41.0	44.0	43.0		6	-8.6	0.0	15	dbSNP_134	43	0,8588		0,0,4294	no	coding-synonymous	MPI	NM_002435.1		0,1,6490	TT,TC,CC		0.0,0.0228,0.0077		2/424	75182420	1,12981	2197	4294	6491	SO:0001819	synonymous_variant	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75182420C>T		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.6C>T	15.37:g.75182420C>T						MPI_ENST00000323744.6_Silent_p.A2A|MPI_ENST00000563422.1_Silent_p.A2A|MPI_ENST00000565576.1_Silent_p.A2A|MPI_ENST00000566377.1_Silent_p.A2A|MPI_ENST00000535694.1_5'UTR|MPI_ENST00000562606.1_5'UTR|MPI_ENST00000563786.1_5'UTR|MPI_ENST00000564003.1_5'UTR	p.A2A			P34949	MPI_HUMAN			1	73	+			2					A8K8K9|Q96AB0	Silent	SNP	ENST00000352410.4	37	c.6C>T	CCDS10272.1																																																																																				0.662	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			15	23	0	0	0	1	0	15	23				
ERBB4	2066	broad.mit.edu	37	2	212251745	212251745	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr2:212251745G>C	ENST00000342788.4	-	27	3624	c.3314C>G	c.(3313-3315)tCc>tGc	p.S1105C	ERBB4_ENST00000436443.1_Missense_Mutation_p.S1089C|ERBB4_ENST00000402597.1_Missense_Mutation_p.S1095C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1105					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ATTACAGCAGGAGTCATCAAA	0.557										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(3313-3315)tCc>tGc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							130.0	119.0	123.0					2																	212251745		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212251745G>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3314C>G	2.37:g.212251745G>C	ENSP00000342235:p.Ser1105Cys	TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Missense_Mutation_p.S1089C|ERBB4_ENST00000402597.1_Missense_Mutation_p.S1095C	p.S1105C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	27	3624	-		Renal(323;0.06)|Lung NSC(271;0.197)	1105					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.3314C>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643337	0.47153	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.75477	-0.94;-0.94;-0.94	5.73	5.73	0.89815	.	0.594998	0.18186	N	0.148996	T	0.72598	0.3480	L	0.29908	0.895	0.27079	N	0.963142	B;B;B;B	0.33512	0.415;0.346;0.415;0.291	B;P;B;B	0.45474	0.163;0.482;0.163;0.125	T	0.69390	-0.5158	10	0.56958	D	0.05	.	13.1437	0.59448	0.0729:0.0:0.9271:0.0	.	1079;1095;1089;1105	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	C	1105;1089;1095	ENSP00000342235:S1105C;ENSP00000403204:S1089C;ENSP00000385565:S1095C	ENSP00000342235:S1105C	S	-	2	0	ERBB4	211959990	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.198000	0.42705	2.707000	0.92482	0.561000	0.74099	TCC		0.557	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		37	54	0	0	0	1	0	37	54				
FEM1A	55527	broad.mit.edu	37	19	4793724	4793724	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr19:4793724C>A	ENST00000269856.3	+	1	1997	c.1858C>A	c.(1858-1860)Ctg>Atg	p.L620M	AC005523.2_ENST00000596170.1_RNA|AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	620					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)	p.L620M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGCCTACGAGCTGCTGGACGA	0.607																																						ENST00000269856.3																			1	Substitution - Missense(1)	p.L620M(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1858-1860)Ctg>Atg		fem-1 homolog a (C. elegans)							48.0	43.0	45.0					19																	4793724		2203	4300	6503	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4793724C>A	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1858C>A	19.37:g.4793724C>A	ENSP00000269856:p.Leu620Met					AC005523.2_ENST00000601192.1_RNA	p.L620M	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1997	+		Hepatocellular(1079;0.137)	620					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.1858C>A	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794270	0.50102	.	.	ENSG00000141965	ENST00000269856	T	0.73152	-0.72	4.92	3.89	0.44902	Ankyrin repeat-containing domain (2);	0.000000	0.56097	U	0.000025	T	0.77157	0.4089	L	0.55103	1.725	0.53005	D	0.999962	D	0.71674	0.998	D	0.69654	0.965	T	0.75196	-0.3403	10	0.41790	T	0.15	-11.1696	9.4444	0.38688	0.0:0.8375:0.0:0.1625	.	620	Q9BSK4	FEM1A_HUMAN	M	620	ENSP00000269856:L620M	ENSP00000269856:L620M	L	+	1	2	FEM1A	4744724	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	2.093000	0.41710	1.061000	0.40601	0.491000	0.48974	CTG		0.607	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			4	30	1	0	1	1	1	4	30				
RAB27A	5873	broad.mit.edu	37	15	55497815	55497815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr15:55497815C>A	ENST00000396307.2	-	6	807	c.556G>T	c.(556-558)Gaa>Taa	p.E186*	RAB27A_ENST00000336787.1_Nonsense_Mutation_p.E186*|RAB27A_ENST00000564609.1_Nonsense_Mutation_p.E186*|RAB27A_ENST00000569493.1_Nonsense_Mutation_p.E186*	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	186					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		ACACACCGTTCCATTCGCTTC	0.468																																						ENST00000396307.2																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9						c.(556-558)Gaa>Taa		RAB27A, member RAS oncogene family							354.0	283.0	307.0					15																	55497815		2193	4292	6485	SO:0001587	stop_gained	5873				small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity	g.chr15:55497815C>A	U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"""RAB, member RAS oncogene"""	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.556G>T	15.37:g.55497815C>A	ENSP00000379601:p.Glu186*					RAB27A_ENST00000569493.1_Nonsense_Mutation_p.E186*|RAB27A_ENST00000564609.1_Nonsense_Mutation_p.E186*|RAB27A_ENST00000336787.1_Nonsense_Mutation_p.E186*	p.E186*	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN		all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)	6	807	-			186					O00195|Q6FI40|Q9UIR9|Q9Y5U3	Nonsense_Mutation	SNP	ENST00000396307.2	37	c.556G>T	CCDS10153.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807351	0.90623	.	.	ENSG00000069974	ENST00000396307;ENST00000396304;ENST00000336787	.	.	.	5.49	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-6.3418	15.4401	0.75176	0.0:0.8608:0.1392:0.0	.	.	.	.	X	186;178;186	.	ENSP00000337761:E186X	E	-	1	0	RAB27A	53285107	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.996000	0.70639	1.300000	0.44818	0.655000	0.94253	GAA		0.468	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	NM_004580, NM_183236		62	83	1	0	3.37043e-27	1	3.93217e-27	62	83				
MBLAC1	255374	broad.mit.edu	37	7	99725100	99725100	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr7:99725100T>C	ENST00000398075.2	+	2	481	c.82T>C	c.(82-84)Tac>Cac	p.Y28H	RP11-506M12.1_ENST00000494221.1_RNA	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	28							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						GCTGCAGGGCTACGCGGAGCC	0.726																																						ENST00000398075.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						c.(82-84)Tac>Cac		metallo-beta-lactamase domain containing 1							11.0	13.0	12.0					7																	99725100		2041	4167	6208	SO:0001583	missense	255374						hydrolase activity|metal ion binding	g.chr7:99725100T>C	BC031288	CCDS43620.1	7q22	2014-02-12	2009-04-08		ENSG00000214309	ENSG00000214309			22180	protein-coding gene	gene with protein product							Standard	XM_005250250		Approved	MGC49416	uc003utp.3	A4D2B0	OTTHUMG00000154846	ENST00000398075.2:c.82T>C	7.37:g.99725100T>C	ENSP00000381150:p.Tyr28His						p.Y28H	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN			2	481	+			28					Q8N5X8	Missense_Mutation	SNP	ENST00000398075.2	37	c.82T>C	CCDS43620.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.458899	0.84317	.	.	ENSG00000214309	ENST00000398075;ENST00000421390	T;T	0.60920	0.9;0.15	4.41	4.41	0.53225	.	0.000000	0.52532	U	0.000078	T	0.62612	0.2442	L	0.29908	0.895	0.38421	D	0.94617	D	0.71674	0.998	D	0.77557	0.99	T	0.68112	-0.5495	10	0.87932	D	0	.	10.2222	0.43203	0.0:0.0:0.0:1.0	.	28	A4D2B0	MBLC1_HUMAN	H	28	ENSP00000381150:Y28H;ENSP00000406055:Y28H	ENSP00000381150:Y28H	Y	+	1	0	MBLAC1	99563036	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	3.664000	0.54525	1.994000	0.58287	0.459000	0.35465	TAC		0.726	MBLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337353.1	NM_203397		3	9	0	0	0	1	0	3	9				
OBSCN	84033	broad.mit.edu	37	1	228506696	228506696	+	Missense_Mutation	SNP	G	G	T	rs377346099		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr1:228506696G>T	ENST00000422127.1	+	54	14287	c.14243G>T	c.(14242-14244)cGc>cTc	p.R4748L	OBSCN_ENST00000284548.11_Missense_Mutation_p.R4748L|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5705L|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2382L|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1867L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4748					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGAAACGTCGCATGAGCCGT	0.682																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(17113-17115)cGc>cTc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							18.0	22.0	20.0					1																	228506696		2195	4282	6477	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228506696G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14243G>T	1.37:g.228506696G>T	ENSP00000409493:p.Arg4748Leu					OBSCN_ENST00000366707.4_Missense_Mutation_p.R2382L|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4748L|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1867L|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4748L	p.R5705L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			65	17188	+		Prostate(94;0.0405)	4748			DH.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.17114G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769674	0.90020	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.71579	-0.18;-0.58;-0.51;0.0	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000006	T	0.72301	0.3443	L	0.34521	1.04	0.49687	D	0.999816	D;D	0.63880	0.989;0.993	P;P	0.58577	0.698;0.841	T	0.70270	-0.4918	10	0.27082	T	0.32	.	16.3454	0.83126	0.0:0.0:1.0:0.0	.	4748;4748	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	4748;4748;2382;1867	ENSP00000284548:R4748L;ENSP00000409493:R4748L;ENSP00000355668:R2382L;ENSP00000355670:R1867L	ENSP00000284548:R4748L	R	+	2	0	OBSCN	226573319	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	9.500000	0.97977	2.085000	0.62840	0.313000	0.20887	CGC		0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		5	1	1	0	1.23904e-05	1	1.36947e-05	5	1				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		5	79	0	0	0	1	0	5	79				
FTHL17	53940	broad.mit.edu	37	X	31089693	31089693	+	Silent	SNP	G	G	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chrX:31089693G>A	ENST00000359202.3	-	1	477	c.378C>T	c.(376-378)ggC>ggT	p.G126G		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	126	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GCTGGGGGTCGCCCTTCTCCA	0.607																																						ENST00000359202.3																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						c.(376-378)ggC>ggT		ferritin, heavy polypeptide-like 17							75.0	60.0	65.0					X																	31089693		2202	4300	6502	SO:0001819	synonymous_variant	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089693G>A	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.378C>T	X.37:g.31089693G>A							p.G126G	NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN			1	477	-			126			Ferritin-like diiron.		Q6NT24|Q6NTE2	Silent	SNP	ENST00000359202.3	37	c.378C>T	CCDS14227.1																																																																																				0.607	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		27	40	0	0	0	1	0	27	40				
TRHDE	29953	broad.mit.edu	37	12	72956810	72956810	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr12:72956810C>T	ENST00000261180.4	+	9	1993	c.1897C>T	c.(1897-1899)Cag>Tag	p.Q633*	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	633					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACTTAAACTTCAGAATAACAG	0.274																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(1897-1899)Cag>Tag		thyrotropin-releasing hormone degrading enzyme							74.0	80.0	78.0					12																	72956810		2203	4292	6495	SO:0001587	stop_gained	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72956810C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1897C>T	12.37:g.72956810C>T	ENSP00000261180:p.Gln633*					TRHDE_ENST00000549138.1_3'UTR	p.Q633*	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			9	1993	+			633					A5PL19|Q6UWJ4	Nonsense_Mutation	SNP	ENST00000261180.4	37	c.1897C>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	37	5.992750	0.97179	.	.	ENSG00000072657	ENST00000261180	.	.	.	6.17	5.27	0.74061	.	1.137960	0.06297	N	0.700240	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	9.3126	0.37915	0.1174:0.6239:0.2588:0.0	.	.	.	.	X	633	.	ENSP00000261180:Q633X	Q	+	1	0	TRHDE	71243077	0.967000	0.33354	0.977000	0.42913	0.498000	0.33706	1.145000	0.31577	2.941000	0.99782	0.655000	0.94253	CAG		0.274	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		33	58	0	0	0	1	0	33	58				
AKT1	207	broad.mit.edu	37	14	105242025	105242025	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr14:105242025C>G	ENST00000554581.1	-	4	1879	c.399G>C	c.(397-399)gaG>gaC	p.E133D	AKT1_ENST00000554192.1_5'Flank|AKT1_ENST00000544168.1_Missense_Mutation_p.E71D|AKT1_ENST00000349310.3_Missense_Mutation_p.E133D|AKT1_ENST00000407796.2_Missense_Mutation_p.E133D|AKT1_ENST00000402615.2_Missense_Mutation_p.E133D|AKT1_ENST00000554848.1_Missense_Mutation_p.E133D|AKT1_ENST00000554585.1_5'Flank|AKT1_ENST00000555528.1_Missense_Mutation_p.E133D|AKT1_ENST00000555458.1_5'Flank			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	133					activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	ACACCTCCATCTCTTCAGCCC	0.647		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	ENST00000554581.1		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"""breast, colorectal, ovarian, NSCLC"""		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(397-399)gaG>gaC		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						136.0	102.0	114.0					14																	105242025		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105242025C>G	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.399G>C	14.37:g.105242025C>G	ENSP00000451828:p.Glu133Asp					AKT1_ENST00000555528.1_Missense_Mutation_p.E133D|AKT1_ENST00000554848.1_Missense_Mutation_p.E133D|AKT1_ENST00000407796.2_Missense_Mutation_p.E133D|AKT1_ENST00000402615.2_Missense_Mutation_p.E133D|AKT1_ENST00000349310.3_Missense_Mutation_p.E133D|AKT1_ENST00000544168.1_Missense_Mutation_p.E71D	p.E133D			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	4	1879	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	133					B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.399G>C	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745688	0.30955	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000544168;ENST00000554848;ENST00000555380	T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	3.9	3.9	0.45041	.	0.060573	0.64402	D	0.000005	T	0.21509	0.0518	N	0.08118	0	0.44635	D	0.997619	B	0.02656	0.0	B	0.04013	0.001	T	0.09862	-1.0655	10	0.18276	T	0.48	.	4.7077	0.12858	0.0:0.707:0.0:0.293	.	133	P31749	AKT1_HUMAN	D	133;133;133;133;133;71;133;71	ENSP00000451828:E133D;ENSP00000384293:E133D;ENSP00000270202:E133D;ENSP00000385326:E133D;ENSP00000450688:E133D;ENSP00000443897:E71D;ENSP00000451166:E133D;ENSP00000451290:E71D	ENSP00000270202:E133D	E	-	3	2	AKT1	104313070	0.967000	0.33354	1.000000	0.80357	0.937000	0.57800	-0.044000	0.12023	2.001000	0.58596	0.448000	0.29417	GAG		0.647	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		22	24	0	0	0	1	0	22	24				
APPL1	26060	broad.mit.edu	37	3	57282228	57282228	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr3:57282228A>G	ENST00000288266.3	+	10	859	c.712A>G	c.(712-714)Agg>Ggg	p.R238G		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	238	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		CAGTGTTCGCAGGGAAATGGA	0.408																																						ENST00000288266.3																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(712-714)Agg>Ggg		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1							114.0	105.0	108.0					3																	57282228		2203	4300	6503	SO:0001583	missense	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57282228A>G	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.712A>G	3.37:g.57282228A>G	ENSP00000288266:p.Arg238Gly						p.R238G	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	10	859	+			238			Required for RAB5A binding.		Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	c.712A>G	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.830037	0.32329	.	.	ENSG00000157500	ENST00000288266	T	0.04654	3.58	6.06	6.06	0.98353	.	0.137575	0.64402	D	0.000006	T	0.05914	0.0154	L	0.38838	1.175	0.48236	D	0.999613	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43048	-0.9415	10	0.22109	T	0.4	-6.4887	16.6245	0.84952	1.0:0.0:0.0:0.0	.	221;238	B4DQX8;Q9UKG1	.;DP13A_HUMAN	G	238	ENSP00000288266:R238G	ENSP00000288266:R238G	R	+	1	2	APPL1	57257268	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.884000	0.63135	2.323000	0.78572	0.528000	0.53228	AGG		0.408	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		6	67	0	0	0	1	0	6	67				
CCDC7	79741	broad.mit.edu	37	10	33165316	33165316	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr10:33165316T>C	ENST00000375030.2	+	23	2377	c.1759T>C	c.(1759-1761)Ttt>Ctt	p.F587L	C10orf68_ENST00000375028.3_Missense_Mutation_p.F632L|C10orf68_ENST00000375025.4_Missense_Mutation_p.F692L			Q9H943	CJ068_HUMAN		628										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ACACCCATACTTTTGAGAATG	0.318																																						ENST00000375030.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.(1759-1761)Ttt>Ctt		chromosome 10 open reading frame 68							76.0	74.0	75.0					10																	33165316		2203	4300	6503	SO:0001583	missense	79741							g.chr10:33165316T>C																												ENST00000375030.2:c.1759T>C	10.37:g.33165316T>C	ENSP00000364170:p.Phe587Leu					C10orf68_ENST00000375025.4_Missense_Mutation_p.F692L|C10orf68_ENST00000375028.3_Missense_Mutation_p.F632L	p.F587L			Q9H943	CJ068_HUMAN			23	2377	+			628					B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375030.2	37	c.1759T>C		.	.	.	.	.	.	.	.	.	.	.	16.72	3.200741	0.58126	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.28666	1.63;1.61;1.6;1.6	3.48	2.36	0.29203	.	.	.	.	.	T	0.15132	0.0365	N	0.08118	0	0.09310	N	1	P;P;P;P	0.41393	0.518;0.748;0.518;0.748	B;B;B;B	0.40009	0.146;0.316;0.146;0.237	T	0.09143	-1.0688	9	0.87932	D	0	.	4.0778	0.09912	0.0:0.189:0.0:0.811	.	609;628;632;587	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	L	628;587;632;692;604	ENSP00000303710:F628L;ENSP00000364170:F587L;ENSP00000364168:F632L;ENSP00000364165:F692L	ENSP00000303710:F628L	F	+	1	0	C10orf68	33205322	0.000000	0.05858	0.002000	0.10522	0.214000	0.24535	0.052000	0.14163	0.729000	0.32403	0.533000	0.62120	TTT		0.318	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			3	40	0	0	0	1	0	3	40				
HCP5	10866	broad.mit.edu	37	6	31431643	31431643	+	RNA	SNP	C	C	T	rs192776040	byFrequency	TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr6:31431643C>T	ENST00000414046.2	+	0	715					NR_040662.1		Q6MZN7	HCP5_HUMAN	HLA complex P5 (non-protein coding)						defense response (GO:0006952)					urinary_tract(1)	1						gggttccacacgaactcctcc	0.572													t|||	38	0.00758786	0.0	0.0	5008	,	,		18827	0.0218		0.0	False		,,,				2504	0.0164					ENST00000414046.2																			0				urinary_tract(1)	1												0,4406		0,0,2203	78.0	85.0	82.0				0.0	6		82	1,8599		0,1,4299	no	utr-3	HCP5	NM_006674.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			31431643	1,13005	2203	4300	6503			0				defense response			g.chr6:31431643C>T	D88650		6p21.3	2012-10-16	2011-08-02		ENSG00000206337	ENSG00000206337		"""Long non-coding RNAs"""	21659	non-coding RNA	RNA, long non-coding		604676	"""HLA complex P5"""			8462994, 10199916	Standard	NR_040662		Approved	D6S2650E, P5-1	uc003ntl.3	Q6MZN7	OTTHUMG00000031282		6.37:g.31431643C>T								NR_040662.1		Q6MZN7	HCP5_HUMAN			0	715	+								Q04490	RNA	SNP	ENST00000414046.2	37																																																																																						0.572	HCP5-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000076614.4	NR_040662		7	103	0	0	0	1	0	7	103				
ZFX	7543	broad.mit.edu	37	X	24226355	24226355	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chrX:24226355G>A	ENST00000379177.1	+	9	1388	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	ZFX_ENST00000539115.1_Missense_Mutation_p.E92K|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000304543.5_Missense_Mutation_p.E321K|ZFX_ENST00000540034.1_Missense_Mutation_p.E360K|ZFX_ENST00000338565.3_Missense_Mutation_p.E271K|ZFX_ENST00000379188.3_Missense_Mutation_p.E321K	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	321					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AATCGCTGACGAAGTTTATAT	0.438																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(961-963)Gaa>Aaa		zinc finger protein, X-linked							53.0	52.0	52.0					X																	24226355		2203	4300	6503	SO:0001583	missense	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24226355G>A		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.961G>A	X.37:g.24226355G>A	ENSP00000368475:p.Glu321Lys					ZFX_ENST00000540034.1_Missense_Mutation_p.E360K|ZFX_ENST00000338565.3_Missense_Mutation_p.E271K|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000539115.1_Missense_Mutation_p.E92K|ZFX_ENST00000304543.5_Missense_Mutation_p.E321K|ZFX_ENST00000379188.3_Missense_Mutation_p.E321K	p.E321K	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			9	1388	+			321					B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	c.961G>A	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602405	0.87157	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565;ENST00000545937	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.53	5.53	0.82687	Transcriptional activator, Zfx / Zfy domain (1);	0.000000	0.64402	D	0.000002	T	0.66839	0.2830	L	0.58810	1.83	0.80722	D	1	D;B;D;D	0.89917	0.997;0.165;0.996;1.0	P;B;D;D	0.81914	0.887;0.023;0.983;0.995	T	0.67554	-0.5641	10	0.56958	D	0.05	-0.3797	18.7183	0.91684	0.0:0.0:1.0:0.0	.	360;90;321;325	B9EG97;F5GYV7;P17010;Q59EB9	.;.;ZFX_HUMAN;.	K	92;321;90;321;321;360;271;116	ENSP00000438233:E92K;ENSP00000368486:E321K;ENSP00000368475:E321K;ENSP00000304985:E321K;ENSP00000441382:E360K;ENSP00000343384:E271K	ENSP00000304985:E321K	E	+	1	0	ZFX	24136276	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.320000	0.79064	2.452000	0.82932	0.600000	0.82982	GAA		0.438	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		27	30	0	0	0	1	0	27	30				
OR6C75	390323	broad.mit.edu	37	12	55759422	55759422	+	Silent	SNP	C	C	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr12:55759422C>T	ENST00000343399.3	+	1	528	c.528C>T	c.(526-528)atC>atT	p.I176I		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ATCATTTTATCTGTGACTCTT	0.428																																						ENST00000343399.3																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(526-528)atC>atT		olfactory receptor, family 6, subfamily C, member 75							168.0	145.0	152.0					12																	55759422		2203	4300	6503	SO:0001819	synonymous_variant	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759422C>T		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.528C>T	12.37:g.55759422C>T							p.I176I	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	528	+			176						Silent	SNP	ENST00000343399.3	37	c.528C>T	CCDS31820.1																																																																																				0.428	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			22	35	0	0	0	1	0	22	35				
CHD6	84181	broad.mit.edu	37	20	40033972	40033972	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr20:40033972T>C	ENST00000373233.3	-	37	7586	c.7409A>G	c.(7408-7410)aAt>aGt	p.N2470S	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2470					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AATCAGTCCATTCATGAACAG	0.607																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(7408-7410)aAt>aGt		chromodomain helicase DNA binding protein 6							72.0	69.0	70.0					20																	40033972		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40033972T>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7409A>G	20.37:g.40033972T>C	ENSP00000362330:p.Asn2470Ser					CHD6_ENST00000480022.1_5'UTR	p.N2470S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			37	7586	-		Myeloproliferative disorder(115;0.00425)	2470					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.7409A>G	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	18.50	3.636731	0.67130	.	.	ENSG00000124177	ENST00000373233	D	0.93307	-3.2	5.65	5.65	0.86999	.	0.179093	0.39759	N	0.001273	D	0.93874	0.8040	M	0.74647	2.275	0.80722	D	1	D	0.62365	0.991	P	0.46659	0.523	D	0.94516	0.7723	10	0.72032	D	0.01	-28.0061	16.0399	0.80667	0.0:0.0:0.0:1.0	.	2470	Q8TD26	CHD6_HUMAN	S	2470	ENSP00000362330:N2470S	ENSP00000362330:N2470S	N	-	2	0	CHD6	39467386	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	6.019000	0.70818	2.371000	0.80710	0.533000	0.62120	AAT		0.607	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			29	28	0	0	0	1	0	29	28				
CCDC114	93233	broad.mit.edu	37	19	48807367	48807367	+	Silent	SNP	C	C	A	rs28582401	byFrequency	TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr19:48807367C>A	ENST00000315396.7	-	7	1267	c.585G>T	c.(583-585)ctG>ctT	p.L195L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	195					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CGCGCTCCCGCAGCAAGCCCA	0.682													C|||	771	0.153954	0.1422	0.0965	5008	,	,		15049	0.124		0.1988	False		,,,				2504	0.1953					ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(583-585)ctG>ctT		coiled-coil domain containing 114		C		744,3662	296.7+/-284.4	66,612,1525	43.0	43.0	43.0		585	-0.5	1.0	19	dbSNP_125	43	1589,7011	285.2+/-297.1	159,1271,2870	no	coding-synonymous	CCDC114	NM_144577.3		225,1883,4395	AA,AC,CC		18.4767,16.8861,17.9379		195/671	48807367	2333,10673	2203	4300	6503	SO:0001819	synonymous_variant	93233							g.chr19:48807367C>A	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.585G>T	19.37:g.48807367C>A							p.L195L	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	7	1267	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	195					Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	c.585G>T	CCDS12714.2																																																																																				0.682	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		5	57	1	0	3.59834e-05	1	3.91819e-05	5	57				
DPF3	8110	broad.mit.edu	37	14	73220067	73220067	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr14:73220067C>T	ENST00000556509.1	-	3	205	c.206G>A	c.(205-207)gGc>gAc	p.G69D	DPF3_ENST00000541685.1_Missense_Mutation_p.G69D|DPF3_ENST00000546183.1_Missense_Mutation_p.G79D	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	69					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ATACAGCTGGCCCGGGGCAAG	0.542																																						ENST00000541685.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22						c.(205-207)gGc>gAc		D4, zinc and double PHD fingers, family 3							38.0	37.0	37.0					14																	73220067		1871	4110	5981	SO:0001583	missense	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73220067C>T	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.206G>A	14.37:g.73220067C>T	ENSP00000450518:p.Gly69Asp					DPF3_ENST00000556509.1_Missense_Mutation_p.G69D|DPF3_ENST00000546183.1_Missense_Mutation_p.G79D	p.G69D	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	3	218	-			69					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37	c.206G>A		.	.	.	.	.	.	.	.	.	.	C	25.1	4.601567	0.87055	.	.	ENSG00000205683	ENST00000540281;ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.91521	-2.86;-0.39;-0.41	5.58	5.58	0.84498	.	.	.	.	.	D	0.94840	0.8333	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.95102	0.8231	9	0.87932	D	0	.	16.4812	0.84158	0.0:1.0:0.0:0.0	.	79;69;69	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	D	69;69;68;69;79	ENSP00000450518:G69D;ENSP00000441640:G69D;ENSP00000444662:G79D	ENSP00000381791:G124D	G	-	2	0	DPF3	72289820	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	5.726000	0.68515	2.633000	0.89246	0.561000	0.74099	GGC		0.542	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			3	21	0	0	0	1	0	3	21				
HCFC1	3054	broad.mit.edu	37	X	153229727	153229727	+	Silent	SNP	C	C	T	rs202217162		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chrX:153229727C>T	ENST00000310441.7	-	3	1317	c.351G>A	c.(349-351)cgG>cgA	p.R117R	HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Silent_p.R117R|HCFC1_ENST00000369984.4_Silent_p.R117R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	117					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCACTCCCACCGGCTCGCCT	0.597																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(349-351)cgG>cgA		host cell factor C1 (VP16-accessory protein)							114.0	119.0	117.0					X																	153229727		1933	4112	6045	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153229727C>T		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.351G>A	X.37:g.153229727C>T						HCFC1_ENST00000354233.3_Silent_p.R117R|HCFC1_ENST00000369984.4_Silent_p.R117R	p.R117R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			3	1317	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		117					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.351G>A	CCDS44020.1																																																																																				0.597	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		6	117	0	0	0	1	0	6	117				
HSH2D	84941	broad.mit.edu	37	19	16268601	16268601	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr19:16268601G>A	ENST00000253680.6	+	9	1586	c.1055G>A	c.(1054-1056)tGc>tAc	p.C352Y	HSH2D_ENST00000397372.4_Missense_Mutation_p.C262Y|HSH2D_ENST00000593154.2_3'UTR|HSH2D_ENST00000588246.1_3'UTR			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	352					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CCTGGGTACTGCTAGAGAACA	0.612																																						ENST00000253680.6																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						c.(1054-1056)tGc>tAc		hematopoietic SH2 domain containing							21.0	25.0	24.0					19																	16268601		1951	4146	6097	SO:0001583	missense	84941					cytoplasm|nucleus		g.chr19:16268601G>A	AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"""SH2 domain containing"""	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.1055G>A	19.37:g.16268601G>A	ENSP00000253680:p.Cys352Tyr					HSH2D_ENST00000397372.4_Missense_Mutation_p.C262Y|HSH2D_ENST00000588246.1_3'UTR|HSH2D_ENST00000593154.2_3'UTR	p.C352Y			Q96JZ2	HSH2D_HUMAN			9	1586	+			352					B5ME72|Q6ZNG7	Missense_Mutation	SNP	ENST00000253680.6	37	c.1055G>A		.	.	.	.	.	.	.	.	.	.	G	12.42	1.932920	0.34096	.	.	ENSG00000196684	ENST00000397372;ENST00000253680	T	0.58358	0.34	3.5	2.4	0.29515	.	0.000000	0.34580	N	0.003848	T	0.61085	0.2319	.	.	.	0.27857	N	0.940535	D	0.62365	0.991	P	0.58577	0.841	T	0.55121	-0.8190	9	0.87932	D	0	.	7.866	0.29537	0.0:0.0:0.7533:0.2467	.	352	Q96JZ2	HSH2D_HUMAN	Y	262;352	ENSP00000253680:C352Y	ENSP00000253680:C352Y	C	+	2	0	HSH2D	16129601	1.000000	0.71417	0.996000	0.52242	0.303000	0.27691	1.763000	0.38461	0.982000	0.38575	0.462000	0.41574	TGC		0.612	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855		7	4	0	0	0	1	0	7	4				
PLA2G2A	5320	broad.mit.edu	37	1	20302255	20302255	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr1:20302255T>C	ENST00000375111.3	-	6	645	c.374A>G	c.(373-375)tAc>tGc	p.Y125C	PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Missense_Mutation_p.Y125C	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	125					defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of epithelial cell proliferation (GO:0050680)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidic acid metabolic process (GO:0046473)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|small molecule metabolic process (GO:0044281)|somatic stem cell maintenance (GO:0035019)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|phospholipid binding (GO:0005543)			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Diclofenac(DB00586)|Ginkgo biloba(DB01381)|Indomethacin(DB00328)|Suramin(DB04786)	CTTTTTATTGTAGGTCGTCTT	0.458																																						ENST00000375111.3																			0				central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9						c.(373-375)tAc>tGc		phospholipase A2, group IIA (platelets, synovial fluid)							172.0	162.0	165.0					1																	20302255		2203	4300	6503	SO:0001583	missense	5320				defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	g.chr1:20302255T>C	BC005919	CCDS201.1	1p35	2008-09-19			ENSG00000188257	ENSG00000188257	3.1.1.4		9031	protein-coding gene	gene with protein product		172411		PLA2B, PLA2L		8838795	Standard	NM_000300		Approved		uc010odb.2	P14555	OTTHUMG00000002699	ENST00000375111.3:c.374A>G	1.37:g.20302255T>C	ENSP00000364252:p.Tyr125Cys					PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Missense_Mutation_p.Y125C	p.Y125C	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	645	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	125					A8K5I7|Q6DN24|Q6IBD9|Q9UCD2	Missense_Mutation	SNP	ENST00000375111.3	37	c.374A>G	CCDS201.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.425081	0.43020	.	.	ENSG00000188257	ENST00000400520;ENST00000375111	T;T	0.44881	0.91;0.91	4.9	3.75	0.43078	Phospholipase A2 (3);	0.000000	0.44097	D	0.000486	T	0.71728	0.3374	H	0.96175	3.78	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66436	-0.5924	10	0.87932	D	0	.	8.7455	0.34583	0.0:0.0:0.1919:0.8081	.	125	P14555	PA2GA_HUMAN	C	125	ENSP00000383364:Y125C;ENSP00000364252:Y125C	ENSP00000364252:Y125C	Y	-	2	0	PLA2G2A	20174842	0.727000	0.28069	0.032000	0.17829	0.004000	0.04260	1.474000	0.35398	0.970000	0.38263	0.460000	0.39030	TAC		0.458	PLA2G2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007675.1	NM_000300		41	42	0	0	0	1	0	41	42				
OBSCN	84033	broad.mit.edu	37	1	228506696	228506696	+	Missense_Mutation	SNP	G	G	T	rs377346099		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr1:228506696G>T	ENST00000422127.1	+	54	14287	c.14243G>T	c.(14242-14244)cGc>cTc	p.R4748L	OBSCN_ENST00000284548.11_Missense_Mutation_p.R4748L|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5705L|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2382L|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1867L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4748					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGAAACGTCGCATGAGCCGT	0.682																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(17113-17115)cGc>cTc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							18.0	22.0	20.0					1																	228506696		2195	4282	6477	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228506696G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14243G>T	1.37:g.228506696G>T	ENSP00000409493:p.Arg4748Leu					OBSCN_ENST00000366707.4_Missense_Mutation_p.R2382L|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4748L|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4748L|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1867L	p.R5705L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			65	17188	+		Prostate(94;0.0405)	4748			DH.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.17114G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769674	0.90020	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.71579	-0.18;-0.58;-0.51;0.0	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000006	T	0.72301	0.3443	L	0.34521	1.04	0.49687	D	0.999816	D;D	0.63880	0.989;0.993	P;P	0.58577	0.698;0.841	T	0.70270	-0.4918	10	0.27082	T	0.32	.	16.3454	0.83126	0.0:0.0:1.0:0.0	.	4748;4748	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	4748;4748;2382;1867	ENSP00000284548:R4748L;ENSP00000409493:R4748L;ENSP00000355668:R2382L;ENSP00000355670:R1867L	ENSP00000284548:R4748L	R	+	2	0	OBSCN	226573319	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	9.500000	0.97977	2.085000	0.62840	0.313000	0.20887	CGC		0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		5	1	1	0	1.23904e-05	1	1.37984e-05	5	1				
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	byFrequency	TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TTTGTCAACATTCGTGACAGA	0.413																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195698264T>C	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698264T>C								NR_003264.2						0	1608	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.413	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	61	0	0	0	1	0	4	61				
MLYCD	23417	broad.mit.edu	37	16	83948837	83948837	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr16:83948837G>C	ENST00000262430.4	+	5	1244	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q	RP11-505K9.4_ENST00000561562.1_Intron|RP11-505K9.4_ENST00000566309.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	409	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CCTGTATGGAGAGAAGCACCG	0.647																																						ENST00000262430.4																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(1225-1227)Gag>Cag		malonyl-CoA decarboxylase							51.0	58.0	56.0					16																	83948837		2120	4236	6356	SO:0001583	missense	23417				acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity	g.chr16:83948837G>C	AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.1225G>C	16.37:g.83948837G>C	ENSP00000262430:p.Glu409Gln					RP11-505K9.4_ENST00000561562.1_RNA	p.E409Q	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN			5	1244	+			409					Q9UNU5|Q9Y3F2	Missense_Mutation	SNP	ENST00000262430.4	37	c.1225G>C	CCDS42206.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550272	0.86127	.	.	ENSG00000103150	ENST00000262430	D	0.91740	-2.9	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.97099	0.9052	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98124	1.0427	10	0.72032	D	0.01	-41.3279	17.2055	0.86916	0.0:0.0:1.0:0.0	.	409	O95822	DCMC_HUMAN	Q	409	ENSP00000262430:E409Q	ENSP00000262430:E409Q	E	+	1	0	MLYCD	82506338	1.000000	0.71417	0.942000	0.38095	0.824000	0.46624	7.419000	0.80179	2.387000	0.81309	0.511000	0.50034	GAG		0.647	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		45	44	0	0	0	1	0	45	44				
RAD23B	5887	broad.mit.edu	37	9	110074019	110074019	+	Splice_Site	SNP	G	G	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr9:110074019G>T	ENST00000358015.3	+	5	904		c.e5+1		RAD23B_ENST00000416373.2_Splice_Site	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)						DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGTGCACTTGGTAAGTATCTG	0.308								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358015.3																			0				breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.e5+1	Direct reversal of damage;Nucleotide excision repair (NER)	RAD23 homolog B (S. cerevisiae)							72.0	72.0	72.0					9																	110074019		2203	4298	6501	SO:0001630	splice_region_variant	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110074019G>T		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.553+1G>T	9.37:g.110074019G>T						RAD23B_ENST00000416373.2_Splice_Site		NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN			5	904	+								B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Splice_Site	SNP	ENST00000358015.3	37		CCDS6769.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950116	0.73787	.	.	ENSG00000119318	ENST00000358015;ENST00000374678;ENST00000416373;ENST00000457811	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8548	0.92247	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAD23B	109113840	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.786000	0.75094	2.520000	0.84964	0.650000	0.86243	.		0.308	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874	Intron	15	19	1	0	3.32936e-07	1	3.79392e-07	15	19				
ZFYVE1	53349	broad.mit.edu	37	14	73491207	73491207	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr14:73491207G>A	ENST00000556143.1	-	2	730	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	ZFYVE1_ENST00000553891.1_Nonsense_Mutation_p.Q4*|ZFYVE1_ENST00000318876.5_Nonsense_Mutation_p.Q4*	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	4					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GGGGAAGTCTGGGCACTCATA	0.527																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(10-12)Cag>Tag		zinc finger, FYVE domain containing 1							47.0	41.0	43.0					14																	73491207		2203	4300	6503	SO:0001587	stop_gained	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73491207G>A	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.10C>T	14.37:g.73491207G>A	ENSP00000450742:p.Gln4*					ZFYVE1_ENST00000318876.5_Nonsense_Mutation_p.Q4*|ZFYVE1_ENST00000553891.1_Nonsense_Mutation_p.Q4*	p.Q4*	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	2	730	-		all_lung(585;1.33e-09)	4					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Nonsense_Mutation	SNP	ENST00000556143.1	37	c.10C>T	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	41	9.009203	0.99035	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	.	.	.	5.66	5.66	0.87406	.	0.259562	0.39083	N	0.001477	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-8.9302	19.8043	0.96521	0.0:0.0:1.0:0.0	.	.	.	.	X	4	.	ENSP00000326921:Q4X	Q	-	1	0	ZFYVE1	72560960	1.000000	0.71417	0.997000	0.53966	0.599000	0.36880	9.023000	0.93683	2.695000	0.91970	0.585000	0.79938	CAG		0.527	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		5	33	0	0	0	1	0	5	33				
PDIA5	10954	broad.mit.edu	37	3	122808075	122808075	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr3:122808075G>A	ENST00000316218.7	+	2	198	c.103G>A	c.(103-105)Gac>Aac	p.D35N		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	35					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		GAGAATCTCTGACCCCAAGGA	0.512																																						ENST00000316218.7																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(103-105)Gac>Aac		protein disulfide isomerase family A, member 5							121.0	117.0	119.0					3																	122808075		2203	4300	6503	SO:0001583	missense	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122808075G>A	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.103G>A	3.37:g.122808075G>A	ENSP00000323313:p.Asp35Asn						p.D35N	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	2	198	+			35					D3DN95|Q9BV43	Missense_Mutation	SNP	ENST00000316218.7	37	c.103G>A	CCDS3020.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501352	0.44455	.	.	ENSG00000065485	ENST00000316218	T	0.05580	3.42	5.13	4.25	0.50352	Thioredoxin-like fold (1);	0.097336	0.64402	D	0.000001	T	0.12135	0.0295	L	0.50333	1.59	0.48135	D	0.999599	D	0.61080	0.989	P	0.55749	0.783	T	0.11891	-1.0569	10	0.26408	T	0.33	.	9.6741	0.40030	0.094:0.0:0.906:0.0	.	35	Q14554	PDIA5_HUMAN	N	35	ENSP00000323313:D35N	ENSP00000323313:D35N	D	+	1	0	PDIA5	124290765	1.000000	0.71417	0.970000	0.41538	0.089000	0.18198	7.299000	0.78831	1.535000	0.49220	-0.136000	0.14681	GAC		0.512	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		36	54	0	0	0	1	0	36	54				
SDHAP1	255812	broad.mit.edu	37	3	195698262	195698262	+	RNA	SNP	C	C	G	rs28503679	byFrequency	TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr3:195698262C>G	ENST00000427841.1	-	0	1610					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AATTTGTCAACATTCGTGACA	0.418																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195698262C>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698262C>G								NR_003264.2						0	1610	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.418	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	67	0	0	0	1	0	4	67				
MPI	4351	broad.mit.edu	37	15	75182420	75182420	+	Silent	SNP	C	C	T	rs149477499		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr15:75182420C>T	ENST00000352410.4	+	1	73	c.6C>T	c.(4-6)gcC>gcT	p.A2A	MPI_ENST00000565576.1_Silent_p.A2A|MPI_ENST00000563422.1_Silent_p.A2A|MPI_ENST00000566377.1_Silent_p.A2A|MPI_ENST00000564003.1_5'UTR|MPI_ENST00000563786.1_5'UTR|MPI_ENST00000562606.1_5'UTR|MPI_ENST00000535694.1_5'UTR|MPI_ENST00000323744.6_Silent_p.A2A			P34949	MPI_HUMAN	mannose phosphate isomerase	2					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CGAGCATGGCCGCTCCGCGAG	0.662																																						ENST00000352410.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(4-6)gcC>gcT		mannose phosphate isomerase		C		1,4393		0,1,2196	41.0	44.0	43.0		6	-8.6	0.0	15	dbSNP_134	43	0,8588		0,0,4294	no	coding-synonymous	MPI	NM_002435.1		0,1,6490	TT,TC,CC		0.0,0.0228,0.0077		2/424	75182420	1,12981	2197	4294	6491	SO:0001819	synonymous_variant	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75182420C>T		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.6C>T	15.37:g.75182420C>T						MPI_ENST00000563786.1_5'UTR|MPI_ENST00000566377.1_Silent_p.A2A|MPI_ENST00000565576.1_Silent_p.A2A|MPI_ENST00000564003.1_5'UTR|MPI_ENST00000563422.1_Silent_p.A2A|MPI_ENST00000323744.6_Silent_p.A2A|MPI_ENST00000562606.1_5'UTR|MPI_ENST00000535694.1_5'UTR	p.A2A			P34949	MPI_HUMAN			1	73	+			2					A8K8K9|Q96AB0	Silent	SNP	ENST00000352410.4	37	c.6C>T	CCDS10272.1																																																																																				0.662	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			15	23	0	0	0	1	0	15	23				
ERBB4	2066	broad.mit.edu	37	2	212251745	212251745	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr2:212251745G>C	ENST00000342788.4	-	27	3624	c.3314C>G	c.(3313-3315)tCc>tGc	p.S1105C	ERBB4_ENST00000436443.1_Missense_Mutation_p.S1089C|ERBB4_ENST00000402597.1_Missense_Mutation_p.S1095C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1105					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ATTACAGCAGGAGTCATCAAA	0.557										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(3313-3315)tCc>tGc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							130.0	119.0	123.0					2																	212251745		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212251745G>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3314C>G	2.37:g.212251745G>C	ENSP00000342235:p.Ser1105Cys	TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Missense_Mutation_p.S1095C|ERBB4_ENST00000436443.1_Missense_Mutation_p.S1089C	p.S1105C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	27	3624	-		Renal(323;0.06)|Lung NSC(271;0.197)	1105					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.3314C>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643337	0.47153	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.75477	-0.94;-0.94;-0.94	5.73	5.73	0.89815	.	0.594998	0.18186	N	0.148996	T	0.72598	0.3480	L	0.29908	0.895	0.27079	N	0.963142	B;B;B;B	0.33512	0.415;0.346;0.415;0.291	B;P;B;B	0.45474	0.163;0.482;0.163;0.125	T	0.69390	-0.5158	10	0.56958	D	0.05	.	13.1437	0.59448	0.0729:0.0:0.9271:0.0	.	1079;1095;1089;1105	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	C	1105;1089;1095	ENSP00000342235:S1105C;ENSP00000403204:S1089C;ENSP00000385565:S1095C	ENSP00000342235:S1105C	S	-	2	0	ERBB4	211959990	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.198000	0.42705	2.707000	0.92482	0.561000	0.74099	TCC		0.557	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		37	54	0	0	0	1	0	37	54				
C2CD3	26005	broad.mit.edu	37	11	73834059	73834059	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr11:73834059G>C	ENST00000334126.7	-	8	1565	c.1339C>G	c.(1339-1341)Ctg>Gtg	p.L447V	C2CD3_ENST00000313663.7_Missense_Mutation_p.L447V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	447					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AAATTCTCCAGAAGACTCTGG	0.428																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(1339-1341)Ctg>Gtg		C2 calcium-dependent domain containing 3							66.0	68.0	67.0					11																	73834059		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73834059G>C	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1339C>G	11.37:g.73834059G>C	ENSP00000334379:p.Leu447Val					C2CD3_ENST00000313663.7_Missense_Mutation_p.L447V	p.L447V			Q4AC94	C2CD3_HUMAN			8	1565	-	Breast(11;4.16e-06)		447					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.1339C>G		.	.	.	.	.	.	.	.	.	.	G	15.15	2.748616	0.49257	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.33216	1.42;1.54	5.52	1.62	0.23740	.	0.000000	0.64402	D	0.000003	T	0.48926	0.1527	M	0.68952	2.095	0.30119	N	0.805861	D;D	0.89917	1.0;0.998	D;D	0.83275	0.994;0.996	T	0.50224	-0.8853	10	0.87932	D	0	-0.214	9.6512	0.39899	0.344:0.0:0.656:0.0	.	447;447	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	V	447	ENSP00000334379:L447V;ENSP00000323339:L447V	ENSP00000323339:L447V	L	-	1	2	C2CD3	73511707	0.998000	0.40836	0.998000	0.56505	0.635000	0.38103	2.494000	0.45329	0.047000	0.15862	-0.258000	0.10820	CTG		0.428	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		25	30	0	0	0	1	0	25	30				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	36	0	0	0	1	0	4	36				
FEM1A	55527	broad.mit.edu	37	19	4793724	4793724	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr19:4793724C>A	ENST00000269856.3	+	1	1997	c.1858C>A	c.(1858-1860)Ctg>Atg	p.L620M	AC005523.2_ENST00000596170.1_RNA|AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	620					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)	p.L620M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGCCTACGAGCTGCTGGACGA	0.607																																						ENST00000269856.3																			1	Substitution - Missense(1)	p.L620M(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1858-1860)Ctg>Atg		fem-1 homolog a (C. elegans)							48.0	43.0	45.0					19																	4793724		2203	4300	6503	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4793724C>A	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1858C>A	19.37:g.4793724C>A	ENSP00000269856:p.Leu620Met					AC005523.2_ENST00000601192.1_RNA	p.L620M	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1997	+		Hepatocellular(1079;0.137)	620					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.1858C>A	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794270	0.50102	.	.	ENSG00000141965	ENST00000269856	T	0.73152	-0.72	4.92	3.89	0.44902	Ankyrin repeat-containing domain (2);	0.000000	0.56097	U	0.000025	T	0.77157	0.4089	L	0.55103	1.725	0.53005	D	0.999962	D	0.71674	0.998	D	0.69654	0.965	T	0.75196	-0.3403	10	0.41790	T	0.15	-11.1696	9.4444	0.38688	0.0:0.8375:0.0:0.1625	.	620	Q9BSK4	FEM1A_HUMAN	M	620	ENSP00000269856:L620M	ENSP00000269856:L620M	L	+	1	2	FEM1A	4744724	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	2.093000	0.41710	1.061000	0.40601	0.491000	0.48974	CTG		0.607	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			4	30	1	0	1	1	1	4	30				
RAB27A	5873	broad.mit.edu	37	15	55497815	55497815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr15:55497815C>A	ENST00000396307.2	-	6	807	c.556G>T	c.(556-558)Gaa>Taa	p.E186*	RAB27A_ENST00000336787.1_Nonsense_Mutation_p.E186*|RAB27A_ENST00000564609.1_Nonsense_Mutation_p.E186*|RAB27A_ENST00000569493.1_Nonsense_Mutation_p.E186*	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	186					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		ACACACCGTTCCATTCGCTTC	0.468																																						ENST00000396307.2																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9						c.(556-558)Gaa>Taa		RAB27A, member RAS oncogene family							354.0	283.0	307.0					15																	55497815		2193	4292	6485	SO:0001587	stop_gained	5873				small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity	g.chr15:55497815C>A	U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"""RAB, member RAS oncogene"""	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.556G>T	15.37:g.55497815C>A	ENSP00000379601:p.Glu186*					RAB27A_ENST00000569493.1_Nonsense_Mutation_p.E186*|RAB27A_ENST00000336787.1_Nonsense_Mutation_p.E186*|RAB27A_ENST00000564609.1_Nonsense_Mutation_p.E186*	p.E186*	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN		all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)	6	807	-			186					O00195|Q6FI40|Q9UIR9|Q9Y5U3	Nonsense_Mutation	SNP	ENST00000396307.2	37	c.556G>T	CCDS10153.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807351	0.90623	.	.	ENSG00000069974	ENST00000396307;ENST00000396304;ENST00000336787	.	.	.	5.49	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-6.3418	15.4401	0.75176	0.0:0.8608:0.1392:0.0	.	.	.	.	X	186;178;186	.	ENSP00000337761:E186X	E	-	1	0	RAB27A	53285107	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.996000	0.70639	1.300000	0.44818	0.655000	0.94253	GAA		0.468	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	NM_004580, NM_183236		62	83	1	0	3.37043e-27	1	3.93217e-27	62	83				
MBLAC1	255374	broad.mit.edu	37	7	99725100	99725100	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr7:99725100T>C	ENST00000398075.2	+	2	481	c.82T>C	c.(82-84)Tac>Cac	p.Y28H	RP11-506M12.1_ENST00000494221.1_RNA	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	28							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						GCTGCAGGGCTACGCGGAGCC	0.726																																						ENST00000398075.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						c.(82-84)Tac>Cac		metallo-beta-lactamase domain containing 1							11.0	13.0	12.0					7																	99725100		2041	4167	6208	SO:0001583	missense	255374						hydrolase activity|metal ion binding	g.chr7:99725100T>C	BC031288	CCDS43620.1	7q22	2014-02-12	2009-04-08		ENSG00000214309	ENSG00000214309			22180	protein-coding gene	gene with protein product							Standard	XM_005250250		Approved	MGC49416	uc003utp.3	A4D2B0	OTTHUMG00000154846	ENST00000398075.2:c.82T>C	7.37:g.99725100T>C	ENSP00000381150:p.Tyr28His						p.Y28H	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN			2	481	+			28					Q8N5X8	Missense_Mutation	SNP	ENST00000398075.2	37	c.82T>C	CCDS43620.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.458899	0.84317	.	.	ENSG00000214309	ENST00000398075;ENST00000421390	T;T	0.60920	0.9;0.15	4.41	4.41	0.53225	.	0.000000	0.52532	U	0.000078	T	0.62612	0.2442	L	0.29908	0.895	0.38421	D	0.94617	D	0.71674	0.998	D	0.77557	0.99	T	0.68112	-0.5495	10	0.87932	D	0	.	10.2222	0.43203	0.0:0.0:0.0:1.0	.	28	A4D2B0	MBLC1_HUMAN	H	28	ENSP00000381150:Y28H;ENSP00000406055:Y28H	ENSP00000381150:Y28H	Y	+	1	0	MBLAC1	99563036	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	3.664000	0.54525	1.994000	0.58287	0.459000	0.35465	TAC		0.726	MBLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337353.1	NM_203397		3	9	0	0	0	1	0	3	9				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	31	0	0	0	1	0	30	31				
HYDIN	54768	broad.mit.edu	37	16	71054178	71054178	+	Missense_Mutation	SNP	T	T	C	rs6416709	byFrequency	TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr16:71054178T>C	ENST00000393567.2	-	22	3379	c.3229A>G	c.(3229-3231)Ata>Gta	p.I1077V	HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1077			I -> V (in dbSNP:rs6416709).		cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.I1077V(3)|p.I1029V(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTTCTTTATGGCCAAGGGC	0.418													t|||	2	0.000399361	0.0	0.0029	5008	,	,		17320	0.0		0.0	False		,,,				2504	0.0					ENST00000393567.2																			6	Substitution - Missense(6)	p.I1077V(3)|p.I1029V(3)	lung(2)|prostate(2)|endometrium(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(3229-3231)Ata>Gta		HYDIN, axonemal central pair apparatus protein							129.0	123.0	125.0					16																	71054178		1855	4094	5949	SO:0001583	missense	54768							g.chr16:71054178T>C	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3229A>G	16.37:g.71054178T>C	ENSP00000377197:p.Ile1077Val					HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	p.I1077V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			22	3379	-		Ovarian(137;0.0654)	1077		I -> V (in dbSNP:rs6416709).			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.3229A>G	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	t	6.789	0.514533	0.12944	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089	T;T	0.06371	3.31;3.31	4.61	0.358	0.16084	.	0.892413	0.09073	U	0.852581	T	0.06096	0.0158	L	0.58101	1.795	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.33059	-0.9883	10	0.18710	T	0.47	.	1.4303	0.02332	0.2901:0.0873:0.1652:0.4573	rs6416709;rs60865895	1077	F8WD23	.	V	1077;1077;1029	ENSP00000377197:I1077V;ENSP00000398544:I1029V	ENSP00000313052:I1077V	I	-	1	0	HYDIN	69611679	0.055000	0.20627	0.982000	0.44146	0.109000	0.19521	0.089000	0.15002	0.228000	0.21019	-0.676000	0.03789	ATA		0.418	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			3	37	0	0	0	1	0	3	37				
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937|rs74800608|rs375843790|rs74185804|rs202010288	byFrequency	TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764														5004	0.999201	0.9992	1.0	5008	,	,		2724	1.0		0.999	False		,,,				2504	0.998					ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II																																						6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12046124_12046126delAGC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12046124_12046126delAGC										Q86VA8	Q86VA8_HUMAN			0	245_247	+								A8MY98	RNA	DEL	ENST00000432424.2	37																																																																																						0.764	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		2	4						2	4	---	---	---	---
CDS1	1040	broad.mit.edu	37	4	85556475	85556475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr4:85556475delT	ENST00000295887.5	+	8	1204	c.781delT	c.(781-783)tttfs	p.F263fs		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CCTTTTTGGATTTTTTTTTGG	0.308																																						ENST00000295887.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20						c.(781-783)ttfs		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1							114.0	121.0	118.0					4																	85556475		2203	4300	6503	SO:0001589	frameshift_variant	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85556475delT	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.781delT	4.37:g.85556475delT	ENSP00000295887:p.Phe263fs						p.F263fs	NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	8	1204	+		Hepatocellular(203;0.114)	263					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Frame_Shift_Del	DEL	ENST00000295887.5	37	c.781delT	CCDS3608.1																																																																																				0.308	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2			9	58						9	58	---	---	---	---
AZGP1P1	646282	broad.mit.edu	37	7	99578706	99578706	+	RNA	DEL	A	A	-	rs199656890		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr7:99578706delA	ENST00000425474.1	+	0	87					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		cttagtttacagtgaaaacaa	0.522																																						ENST00000425474.1																			0																																																			0							g.chr7:99578706delA	AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99578706delA								NR_036679.1						0	87	+									RNA	DEL	ENST00000425474.1	37																																																																																						0.522	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344467.1			4	4						4	4	---	---	---	---
RP11-1060J15.4	0	broad.mit.edu	37	12	27855780	27855781	+	RNA	INS	-	-	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr12:27855780_27855781insA	ENST00000536317.1	-	0	519				RP11-1060J15.4_ENST00000536922.1_RNA|RP11-1060J15.4_ENST00000542660.1_RNA|RP11-1060J15.7_ENST00000538640.1_lincRNA																							TGCCAAGGCTGAaaaaaaaaga	0.396																																						ENST00000536317.1																			0																																																			0							g.chr12:27855780_27855781insA																													12.37:g.27855789_27855789dupA						RP11-1060J15.4_ENST00000542660.1_RNA|RP11-1060J15.4_ENST00000536922.1_RNA								0	519	-									RNA	INS	ENST00000536317.1	37																																																																																						0.396	RP11-1060J15.4-001	KNOWN	non_canonical_polymorphism|basic	antisense	antisense	OTTHUMT00000402891.1			2	4						2	4	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81183625	81183626	+	RNA	DEL	TT	TT	-	rs537660277|rs5818322|rs10617579	byFrequency	TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr16:81183625_81183626delTT	ENST00000525539.1	-	0	4553				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTGTTCACACtttttttttttt	0.465														3562	0.711262	0.6044	0.7637	5008	,	,		18089	0.625		0.831	False		,,,				2504	0.7843					ENST00000533478.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2																																						114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81183625_81183626delTT	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81183635_81183636delTT						PKD1L2_ENST00000525539.1_RNA		NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN			0	2609	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	DEL	ENST00000525539.1	37																																																																																						0.465	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			2	4						2	4	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51207039	51207039	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr19:51207039delG	ENST00000293441.1	-	10	1289	c.1271delC	c.(1270-1272)ccafs	p.P424fs	SHANK1_ENST00000391814.1_Frame_Shift_Del_p.P424fs|SHANK1_ENST00000359082.3_Frame_Shift_Del_p.P424fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	424					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCTGTGCCTGGGGGCCCCCG	0.721																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(1270-1272)cafs		SH3 and multiple ankyrin repeat domains 1							2.0	3.0	3.0					19																	51207039		1490	3219	4709	SO:0001589	frameshift_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51207039delG	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1271delC	19.37:g.51207039delG	ENSP00000293441:p.Pro424fs					SHANK1_ENST00000391814.1_Frame_Shift_Del_p.P424fs|SHANK1_ENST00000359082.3_Frame_Shift_Del_p.P424fs	p.P424fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	10	1289	-		all_neural(266;0.057)	424					A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Del	DEL	ENST00000293441.1	37	c.1271delC	CCDS12799.1																																																																																				0.721	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		2	4						2	4	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29628229	29628230	+	Frame_Shift_Ins	INS	-	-	A	rs373737774		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr20:29628229_29628230insA	ENST00000278882.3	+	6	611_612	c.231_232insA	c.(232-234)aaafs	p.K78fs	FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.K78fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.K83fs			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	78										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCACTTAGGGGAAAATGGCTTT	0.351																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(229-234)ggaaatfs																																						SO:0001589	frameshift_variant	0							g.chr20:29628229_29628230insA			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.235dupA	20.37:g.29628233_29628233dupA	ENSP00000278882:p.Lys78fs					FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.N83fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.N78fs	p.N78fs							6	611_612	+								C4AME5	Frame_Shift_Ins	INS	ENST00000278882.3	37	c.231_232insA																																																																																					0.351	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	146						7	146	---	---	---	---
AZGP1P1	646282	broad.mit.edu	37	7	99578706	99578706	+	RNA	DEL	A	A	-	rs199656890		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr7:99578706delA	ENST00000425474.1	+	0	87					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		cttagtttacagtgaaaacaa	0.522																																						ENST00000425474.1																			0																																																			0							g.chr7:99578706delA	AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99578706delA								NR_036679.1						0	87	+									RNA	DEL	ENST00000425474.1	37																																																																																						0.522	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344467.1			4	4						4	4	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651200	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCC	rs71025763|rs144216147	byFrequency	TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr11:1651199_1651200insGGCTGTGGCTCC	ENST00000399676.2	+	1	167_168	c.129_130insGGCTGTGGCTCC	c.(130-132)ggc>GGCTGTGGCTCCggc	p.44_44G>GCGSG		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	44						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtggggg	0.713																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(127-132)gggctg>ggGGCTGTGGCTCCgctg		keratin associated protein 5-5																																				SO:0001652	inframe_insertion	439915					keratin filament		g.chr11:1651199_1651200insGGCTGTGGCTCC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	Exception_encountered	11.37:g.1651199_1651200insGGCTGTGGCTCC	Exception_encountered						p.43_44GL>GAVAPL	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	167_168	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	43	G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).				A8MWN2	In_Frame_Ins	INS	ENST00000399676.2	37	c.129_130insGGCTGTGGCTCC	CCDS41592.1																																																																																				0.713	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			43	18						43	18	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51207039	51207039	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	14c9fe92-30f5-4056-8d14-b3cb0ddf2094	g.chr19:51207039delG	ENST00000293441.1	-	10	1289	c.1271delC	c.(1270-1272)ccafs	p.P424fs	SHANK1_ENST00000391814.1_Frame_Shift_Del_p.P424fs|SHANK1_ENST00000359082.3_Frame_Shift_Del_p.P424fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	424					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCTGTGCCTGGGGGCCCCCG	0.721																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(1270-1272)cafs		SH3 and multiple ankyrin repeat domains 1							2.0	3.0	3.0					19																	51207039		1490	3219	4709	SO:0001589	frameshift_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51207039delG	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1271delC	19.37:g.51207039delG	ENSP00000293441:p.Pro424fs					SHANK1_ENST00000359082.3_Frame_Shift_Del_p.P424fs|SHANK1_ENST00000391814.1_Frame_Shift_Del_p.P424fs	p.P424fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	10	1289	-		all_neural(266;0.057)	424					A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Del	DEL	ENST00000293441.1	37	c.1271delC	CCDS12799.1																																																																																				0.721	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		2	4						2	4	---	---	---	---
