#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
MAP4	4134	broad.mit.edu	37	3	47958147	47958147	+	Silent	SNP	C	C	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr3:47958147C>T	ENST00000360240.6	-	7	1688	c.1170G>A	c.(1168-1170)ttG>ttA	p.L390L	MAP4_ENST00000426837.2_Silent_p.L407L|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Silent_p.L390L	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	390	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.L390L(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TGGAAGGAGCCAAGTCCATTT	0.448																																						ENST00000426837.2																			2	Substitution - coding silent(2)	p.L390L(2)	lung(2)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(1219-1221)ttG>ttA		microtubule-associated protein 4							148.0	146.0	146.0					3																	47958147		2203	4300	6503	SO:0001819	synonymous_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47958147C>T		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1170G>A	3.37:g.47958147C>T						MAP4_ENST00000395734.3_Silent_p.L390L|MAP4_ENST00000360240.6_Silent_p.L390L|MAP4_ENST00000383737.4_Intron	p.L407L			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	8	1308	-			390			17 X 14 AA tandem repeats.		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	ENST00000360240.6	37	c.1221G>A	CCDS33750.1																																																																																				0.448	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		4	164	0	0	0	1	0	4	164				
PATE2	399967	broad.mit.edu	37	11	125647896	125647896	+	Splice_Site	SNP	C	C	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr11:125647896C>T	ENST00000358524.3	-	3	123	c.78G>A	c.(76-78)gcG>gcA	p.A26A	PATE2_ENST00000436890.2_Intron	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	26						extracellular space (GO:0005615)		p.A26A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						TTATTTCAGTCGCTGCCAGAT	0.438																																						ENST00000358524.3																			2	Substitution - coding silent(2)	p.A26A(2)	large_intestine(1)|endometrium(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						c.e3-1		prostate and testis expressed 2							99.0	91.0	94.0					11																	125647896		2201	4299	6500	SO:0001630	splice_region_variant	399967					extracellular space		g.chr11:125647896C>T	AY358105	CCDS8465.1	11q24.2	2008-12-17	2008-12-17	2008-12-17		ENSG00000196844		"""PATE family"""	32249	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 38"""	C11orf38			Standard	NM_212555		Approved	UNQ3112, LVLF3112, PATE-M	uc001qcu.3	Q6UY27		ENST00000358524.3:c.77-1G>A	11.37:g.125647896C>T						PATE2_ENST00000436890.2_Intron	p.A26_splice	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN			3	123	-			26					B2RNZ2|B7ZMG4	Splice_Site	SNP	ENST00000358524.3	37	c.76_splice	CCDS8465.1																																																																																				0.438	PATE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386729.1	NM_212555	Silent	21	36	0	0	0	1	0	21	36				
MYO6	4646	broad.mit.edu	37	6	76576719	76576719	+	Missense_Mutation	SNP	A	A	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr6:76576719A>T	ENST00000369977.3	+	18	1980	c.1841A>T	c.(1840-1842)gAt>gTt	p.D614V	MYO6_ENST00000369975.1_Missense_Mutation_p.D614V|RNA5SP209_ENST00000411237.1_RNA|MYO6_ENST00000369985.4_Missense_Mutation_p.D614V|MYO6_ENST00000369981.3_Missense_Mutation_p.D614V|snoU13_ENST00000459013.1_RNA	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	614	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GAATCCAGAGATAAGTTTATA	0.318																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1840-1842)gAt>gTt		myosin VI							76.0	75.0	75.0					6																	76576719		2203	4299	6502	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76576719A>T	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.1841A>T	6.37:g.76576719A>T	ENSP00000358994:p.Asp614Val					MYO6_ENST00000369985.4_Missense_Mutation_p.D614V|MYO6_ENST00000369975.1_Missense_Mutation_p.D614V|MYO6_ENST00000369977.3_Missense_Mutation_p.D614V	p.D614V			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	18	2120	+		all_hematologic(105;0.189)	614			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.1841A>T	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984053	0.74474	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.87993	0.6318	L	0.49778	1.585	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.77557	0.986;0.99	D	0.85455	0.1163	10	0.16896	T	0.51	.	15.7396	0.77882	1.0:0.0:0.0:0.0	.	614;614	Q9UM54-2;Q9UM54-1	.;.	V	614	ENSP00000358998:D614V;ENSP00000359002:D614V;ENSP00000358994:D614V;ENSP00000358992:D614V	ENSP00000358992:D614V	D	+	2	0	MYO6	76633439	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.883000	0.92426	2.179000	0.69175	0.528000	0.53228	GAT		0.318	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		12	24	0	0	0	1	0	12	24				
COL8A2	1296	broad.mit.edu	37	1	36563588	36563588	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr1:36563588C>T	ENST00000397799.1	-	4	1918	c.1694G>A	c.(1693-1695)gGg>gAg	p.G565E	COL8A2_ENST00000303143.4_Missense_Mutation_p.G565E|COL8A2_ENST00000481785.1_Missense_Mutation_p.G500E			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	565	Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCGCCCAGCCCAAACTGTGG	0.677																																						ENST00000397799.1																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1693-1695)gGg>gAg		collagen, type VIII, alpha 2							20.0	20.0	20.0					1																	36563588		2200	4295	6495	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36563588C>T	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1694G>A	1.37:g.36563588C>T	ENSP00000380901:p.Gly565Glu					COL8A2_ENST00000481785.1_Missense_Mutation_p.G500E|COL8A2_ENST00000303143.4_Missense_Mutation_p.G565E	p.G565E			P25067	CO8A2_HUMAN			4	1918	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	565			Nonhelical region (NC1).		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.1694G>A	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958546	0.53400	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.91068	-2.78;-2.78;-2.77	4.2	4.2	0.49525	.	0.109282	0.64402	D	0.000005	D	0.87712	0.6246	M	0.64997	1.995	0.54753	D	0.999989	P	0.50943	0.94	B	0.42959	0.403	D	0.86509	0.1808	10	0.02654	T	1	.	17.0876	0.86615	0.0:1.0:0.0:0.0	.	565	P25067	CO8A2_HUMAN	E	565;565;500;289	ENSP00000305913:G565E;ENSP00000380901:G565E;ENSP00000436433:G500E	ENSP00000305913:G565E	G	-	2	0	COL8A2	36336175	0.958000	0.32768	1.000000	0.80357	0.807000	0.45602	3.100000	0.50275	2.335000	0.79485	0.462000	0.41574	GGG		0.677	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		7	15	0	0	0	1	0	7	15				
CNTNAP1	8506	broad.mit.edu	37	17	40849769	40849769	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr17:40849769C>T	ENST00000264638.4	+	22	3983	c.3766C>T	c.(3766-3768)Ctt>Ttt	p.L1256F	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1256					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TATGCCACGTCTTGTTTCAGA	0.562																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3766-3768)Ctt>Ttt		contactin associated protein 1							177.0	172.0	174.0					17																	40849769		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40849769C>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3766C>T	17.37:g.40849769C>T	ENSP00000264638:p.Leu1256Phe					CTD-3193K9.3_ENST00000592440.1_RNA	p.L1256F	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	22	3983	+		Breast(137;0.000143)	1256						Missense_Mutation	SNP	ENST00000264638.4	37	c.3766C>T	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	1.638	-0.517163	0.04171	.	.	ENSG00000108797	ENST00000264638	D	0.90004	-2.6	5.48	3.24	0.37175	.	0.382752	0.22753	N	0.056050	T	0.69984	0.3172	N	0.08118	0	0.09310	N	1	B	0.33379	0.41	B	0.25291	0.059	T	0.58036	-0.7707	10	0.25106	T	0.35	.	4.5385	0.12045	0.1935:0.586:0.1307:0.0898	.	1256	P78357	CNTP1_HUMAN	F	1256	ENSP00000264638:L1256F	ENSP00000264638:L1256F	L	+	1	0	CNTNAP1	38103295	0.013000	0.17824	0.157000	0.22605	0.339000	0.28857	1.130000	0.31393	2.564000	0.86499	0.650000	0.86243	CTT		0.562	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		5	123	0	0	0	1	0	5	123				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	71	0	0	0	1	0	3	71				
DENND5A	23258	broad.mit.edu	37	11	9167356	9167356	+	Missense_Mutation	SNP	G	G	A	rs375787613		TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr11:9167356G>A	ENST00000328194.3	-	17	3184	c.2864C>T	c.(2863-2865)cCg>cTg	p.P955L	DENND5A_ENST00000527700.1_Missense_Mutation_p.P298L|DENND5A_ENST00000530044.1_Missense_Mutation_p.P955L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	955	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AATGTGGTACGGGATCACTGT	0.498																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2863-2865)cCg>cTg		DENN/MADD domain containing 5A		G	LEU/PRO	1,4401	2.1+/-5.4	0,1,2200	229.0	227.0	228.0		2864	5.8	1.0	11		228	0,8592		0,0,4296	no	missense	DENND5A	NM_015213.3	98	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	955/1288	9167356	1,12993	2201	4296	6497	SO:0001583	missense	23258							g.chr11:9167356G>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2864C>T	11.37:g.9167356G>A	ENSP00000328524:p.Pro955Leu					DENND5A_ENST00000530044.1_Missense_Mutation_p.P955L|DENND5A_ENST00000527700.1_Missense_Mutation_p.P298L	p.P955L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			17	3184	-			955			PLAT.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.2864C>T	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.472957|4.472957	0.84640|0.84640	2.27E-4|2.27E-4	0.0|0.0	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700|ENST00000525784	T;T;T|.	0.19394|.	3.62;3.62;2.15|.	5.85|5.85	5.85|5.85	0.93711|0.93711	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82342|0.82342	0.5016|0.5016	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.991;0.999|.	P;D|.	0.65573|.	0.716;0.936|.	T|T	0.81799|0.81799	-0.0767|-0.0767	10|5	0.66056|.	D|.	0.02|.	.|.	20.1576|20.1576	0.98120|0.98120	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	955;955|.	E9PS91;Q6IQ26|.	.;DEN5A_HUMAN|.	L|C	955;955;298|3	ENSP00000328524:P955L;ENSP00000435866:P955L;ENSP00000432549:P298L|.	ENSP00000328524:P955L|.	P|R	-|-	2|1	0|0	DENND5A|DENND5A	9123932|9123932	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.994000|0.994000	0.84299|0.84299	9.869000|9.869000	0.99810|0.99810	2.773000|2.773000	0.95371|0.95371	0.650000|0.650000	0.86243|0.86243	CCG|CGT		0.498	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		4	238	0	0	0	1	0	4	238				
ACSL1	2180	broad.mit.edu	37	4	185681525	185681525	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr4:185681525C>T	ENST00000515030.1	-	18	2093	c.1768G>A	c.(1768-1770)Gga>Aga	p.G590R	ACSL1_ENST00000507295.1_Missense_Mutation_p.G556R|ACSL1_ENST00000281455.2_Missense_Mutation_p.G590R|ACSL1_ENST00000513317.1_Missense_Mutation_p.G590R|ACSL1_ENST00000454703.2_Missense_Mutation_p.G419R|ACSL1_ENST00000437665.3_Missense_Mutation_p.G419R|ACSL1_ENST00000504342.1_Missense_Mutation_p.G590R			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	590					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGCTTTCTCCGTGGACAAAC	0.443																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(1768-1770)Gga>Aga		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						221.0	233.0	229.0					4																	185681525		2203	4300	6503	SO:0001583	missense	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185681525C>T	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1768G>A	4.37:g.185681525C>T	ENSP00000422607:p.Gly590Arg					ACSL1_ENST00000504342.1_Missense_Mutation_p.G590R|ACSL1_ENST00000437665.3_Missense_Mutation_p.G419R|ACSL1_ENST00000281455.2_Missense_Mutation_p.G590R|ACSL1_ENST00000507295.1_Missense_Mutation_p.G556R|ACSL1_ENST00000513317.1_Missense_Mutation_p.G590R|ACSL1_ENST00000454703.2_Missense_Mutation_p.G419R	p.G590R			P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	18	2093	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	590					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	c.1768G>A	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053106	0.93793	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.81044	0.4741	H	0.99336	4.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;1.0;1.0;1.0	D	0.89160	0.3529	10	0.87932	D	0	-22.1141	19.5066	0.95118	0.0:1.0:0.0:0.0	.	556;590;590;580	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	R	419;590;186;590;556;419;590;590	ENSP00000407165:G419R;ENSP00000422607:G590R;ENSP00000425098:G186R;ENSP00000281455:G590R;ENSP00000426244:G556R;ENSP00000405687:G419R;ENSP00000425006:G590R;ENSP00000426150:G590R	ENSP00000281455:G590R	G	-	1	0	ACSL1	185918519	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.654000	0.83653	2.612000	0.88384	0.655000	0.94253	GGA		0.443	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		7	228	0	0	0	1	0	7	228				
TYR	7299	broad.mit.edu	37	11	88911368	88911368	+	Missense_Mutation	SNP	G	G	A	rs149684917		TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr11:88911368G>A	ENST00000263321.5	+	1	749	c.247G>A	c.(247-249)Gtc>Atc	p.V83I	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	83					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	GTGGCCTTCCGTCTTTTATAA	0.512																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(247-249)Gtc>Atc		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	G	ILE/VAL	0,4402		0,0,2201	43.0	42.0	43.0		247	3.2	0.5	11	dbSNP_134	43	1,8597	1.2+/-3.3	0,1,4298	no	missense	TYR	NM_000372.4	29	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	83/530	88911368	1,12999	2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911368G>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.247G>A	11.37:g.88911368G>A	ENSP00000263321:p.Val83Ile					TYR_ENST00000526139.1_3'UTR	p.V83I	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			1	749	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	83					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.247G>A	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	8.247	0.808214	0.16467	0.0	1.16E-4	ENSG00000077498	ENST00000263321	D	0.83591	-1.74	6.07	3.24	0.37175	Uncharacterised domain, di-copper centre (2);	0.232469	0.43919	N	0.000506	D	0.82834	0.5123	M	0.80508	2.5	0.35898	D	0.830158	B	0.21520	0.057	B	0.18561	0.022	T	0.80625	-0.1299	9	.	.	.	.	15.4391	0.75168	0.1263:0.0:0.8737:0.0	.	83	P14679	TYRO_HUMAN	I	83	ENSP00000263321:V83I	.	V	+	1	0	TYR	88551016	1.000000	0.71417	0.451000	0.26982	0.487000	0.33371	5.367000	0.66127	0.462000	0.27095	-0.940000	0.02684	GTC		0.512	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		3	33	0	0	0	1	0	3	33				
PRLR	5618	broad.mit.edu	37	5	35084650	35084650	+	Missense_Mutation	SNP	A	A	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr5:35084650A>T	ENST00000382002.5	-	5	721	c.295T>A	c.(295-297)Tac>Aac	p.Y99N	PRLR_ENST00000310101.5_Missense_Mutation_p.Y99N|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000542609.1_Missense_Mutation_p.Y99N|PRLR_ENST00000513753.1_Missense_Mutation_p.Y99N|PRLR_ENST00000397391.3_Missense_Mutation_p.Y28N|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000231423.3_Missense_Mutation_p.Y99N|PRLR_ENST00000348262.3_Missense_Mutation_p.Y99N	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	99	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	ATCATGATGTATGTCCTCCAC	0.483																																						ENST00000382002.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(295-297)Tac>Aac		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						231.0	216.0	221.0					5																	35084650		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35084650A>T		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.295T>A	5.37:g.35084650A>T	ENSP00000371432:p.Tyr99Asn					PRLR_ENST00000231423.3_Missense_Mutation_p.Y99N|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000542609.1_Missense_Mutation_p.Y99N|PRLR_ENST00000513753.1_Missense_Mutation_p.Y99N|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_Missense_Mutation_p.Y28N|PRLR_ENST00000348262.3_Missense_Mutation_p.Y99N|PRLR_ENST00000310101.5_Missense_Mutation_p.Y99N	p.Y99N	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		5	721	-	all_lung(31;3.83e-05)		99			Fibronectin type-III 1.		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.295T>A	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.219927	0.58560	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000397391;ENST00000542609;ENST00000382002;ENST00000310101;ENST00000514206;ENST00000509839;ENST00000503330	T;T;T;D;T;T;T;T;T;T	0.97772	-0.08;-0.08;-0.08;-4.53;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.78	5.78	0.91487	Fibronectin, type III (3);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.052982	0.85682	D	0.000000	D	0.98887	0.9623	M	0.90082	3.085	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0;0.999	D	0.99755	1.1019	10	0.87932	D	0	-18.4552	15.0964	0.72238	1.0:0.0:0.0:0.0	.	99;99;28;99;99;99	P16471-3;P16471;Q8TD76;P16471-7;P16471-6;P16471-4	.;PRLR_HUMAN;.;.;.;.	N	99;99;99;28;99;99;99;99;99;99	ENSP00000231423:Y99N;ENSP00000424841:Y99N;ENSP00000311613:Y99N;ENSP00000380546:Y28N;ENSP00000441813:Y99N;ENSP00000371432:Y99N;ENSP00000309008:Y99N;ENSP00000423493:Y99N;ENSP00000427060:Y99N;ENSP00000422385:Y99N	ENSP00000231423:Y99N	Y	-	1	0	PRLR	35120407	1.000000	0.71417	0.574000	0.28523	0.025000	0.11179	8.030000	0.88816	2.220000	0.72140	0.533000	0.62120	TAC		0.483	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			4	128	0	0	0	1	0	4	128				
AGL	178	broad.mit.edu	37	1	100382037	100382037	+	Missense_Mutation	SNP	A	A	G	rs143815159	byFrequency	TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr1:100382037A>G	ENST00000294724.4	+	32	4809	c.4331A>G	c.(4330-4332)aAt>aGt	p.N1444S	AGL_ENST00000370165.3_Missense_Mutation_p.N1444S|AGL_ENST00000361915.3_Missense_Mutation_p.N1444S|AGL_ENST00000370163.3_Missense_Mutation_p.N1444S|AGL_ENST00000361302.3_Missense_Mutation_p.N1428S|AGL_ENST00000361522.4_Missense_Mutation_p.N1427S|AGL_ENST00000370161.2_Missense_Mutation_p.N1428S	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1444					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AAAGGTTTCAATTATCACCAA	0.264													A|||	7	0.00139776	0.0015	0.0014	5008	,	,		16302	0.001		0.0	False		,,,				2504	0.0031					ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(4330-4332)aAt>aGt		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase		A	SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN	6,4400	11.4+/-27.6	0,6,2197	86.0	90.0	89.0		4331,4331,4331,4331,4280,4283	5.9	1.0	1	dbSNP_134	89	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense,missense,missense,missense,missense	AGL	NM_000028.2,NM_000642.2,NM_000643.2,NM_000644.2,NM_000645.2,NM_000646.2	46,46,46,46,46,46	0,7,6495	GG,GA,AA		0.0116,0.1362,0.0538	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1444/1533,1444/1533,1444/1533,1444/1533,1427/1516,1428/1517	100382037	7,12997	2203	4299	6502	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100382037A>G	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.4331A>G	1.37:g.100382037A>G	ENSP00000294724:p.Asn1444Ser					AGL_ENST00000370165.3_Missense_Mutation_p.N1444S|AGL_ENST00000361302.3_Missense_Mutation_p.N1428S|AGL_ENST00000361522.4_Missense_Mutation_p.N1427S|AGL_ENST00000361915.3_Missense_Mutation_p.N1444S|AGL_ENST00000370163.3_Missense_Mutation_p.N1444S|AGL_ENST00000370161.2_Missense_Mutation_p.N1428S	p.N1444S	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	32	4809	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1444					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.4331A>G	CCDS759.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	0	0.0	A	23.0	4.365554	0.82463	0.001362	1.16E-4	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.89	5.89	0.94794	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.78984	0.4370	M	0.77820	2.39	0.80722	D	1	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.75484	0.976;0.976;0.986	T	0.82311	-0.0520	10	0.87932	D	0	.	16.3127	0.82898	1.0:0.0:0.0:0.0	.	1427;1428;1444	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	S	1444;1444;1444;1444;1428;1428;1427	ENSP00000355106:N1444S;ENSP00000359184:N1444S;ENSP00000359182:N1444S;ENSP00000294724:N1444S;ENSP00000354971:N1428S;ENSP00000359180:N1428S;ENSP00000354635:N1427S	ENSP00000294724:N1444S	N	+	2	0	AGL	100154625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.246000	0.74042	0.533000	0.62120	AAT		0.264	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		7	30	0	0	0	1	0	7	30				
MYO15A	51168	broad.mit.edu	37	17	18082059	18082059	+	Intron	SNP	G	G	A	rs189294429		TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr17:18082059G>A	ENST00000205890.5	+	66	10829				RP11-258F1.1_ENST00000577847.1_RNA|MYO15A_ENST00000418233.3_Missense_Mutation_p.R771H|MYO15A_ENST00000451725.2_3'UTR|RP11-258F1.1_ENST00000583062.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA						inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TTGGATGGGCGTGGACTGTCA	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19661	0.0		0.0	False		,,,				2504	0.0					ENST00000418233.3																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(2311-2313)cGt>cAt		myosin XVA							108.0	116.0	113.0					17																	18082059		2144	4249	6393	SO:0001627	intron_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18082059G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.10492-24G>A	17.37:g.18082059G>A						RP11-258F1.1_ENST00000577847.1_RNA|MYO15A_ENST00000205890.5_Intron|RP11-258F1.1_ENST00000583062.1_RNA|MYO15A_ENST00000451725.2_3'UTR	p.R771H			Q9UKN7	MYO15_HUMAN			24	2934	+	all_neural(463;0.228)		0			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.2312G>A	CCDS42271.1																																																																																				0.577	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		13	38	0	0	0	1	0	13	38				
CSMD3	114788	broad.mit.edu	37	8	113267504	113267504	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr8:113267504C>A	ENST00000297405.5	-	62	10259	c.10015G>T	c.(10015-10017)Ggt>Tgt	p.G3339C	CSMD3_ENST00000455883.2_Missense_Mutation_p.G3170C|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3269C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3299C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3339	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTGATGAACCACTCCAAGTG	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10015-10017)Ggt>Tgt		CUB and Sushi multiple domains 3							126.0	115.0	118.0					8																	113267504		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113267504C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10015G>T	8.37:g.113267504C>A	ENSP00000297405:p.Gly3339Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.G3299C|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3269C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3170C	p.G3339C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			62	10259	-			3339			Sushi 26.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10015G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403634	0.62288	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.2	5.2	0.72013	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.73992	0.3658	H	0.98786	4.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;0.999;0.936	D	0.85317	0.1082	10	0.87932	D	0	.	18.9452	0.92620	0.0:1.0:0.0:0.0	.	3170;3339;3299	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	3299;3339;2609;3170;3269	ENSP00000345799:G3299C;ENSP00000297405:G3339C;ENSP00000341558:G2609C;ENSP00000412263:G3170C;ENSP00000343124:G3269C	ENSP00000297405:G3339C	G	-	1	0	CSMD3	113336680	1.000000	0.71417	0.997000	0.53966	0.163000	0.22366	7.581000	0.82535	2.712000	0.92718	0.655000	0.94253	GGT		0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		19	52	1	0	5.26018e-13	1	5.53703e-13	19	52				
GRID1	2894	broad.mit.edu	37	10	87362425	87362425	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr10:87362425G>T	ENST00000327946.7	-	16	2720	c.2635C>A	c.(2635-2637)Cgc>Agc	p.R879S	GRID1_ENST00000536331.1_Missense_Mutation_p.R450S|RP11-93H12.2_ENST00000443311.1_RNA|GRID1_ENST00000552278.2_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	879					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CTGTTCATGCGCCGGTGGACC	0.577										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2635-2637)Cgc>Agc		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						45.0	38.0	40.0					10																	87362425		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87362425G>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2635C>A	10.37:g.87362425G>T	ENSP00000330148:p.Arg879Ser	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.R450S|GRID1_ENST00000552278.2_5'UTR	p.R879S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			16	2720	-			879					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2635C>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683661	0.88639	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.16457	2.6;2.34	5.74	5.74	0.90152	.	0.472007	0.23204	N	0.050742	T	0.41259	0.1151	L	0.58101	1.795	0.80722	D	1	D	0.63880	0.993	D	0.74023	0.982	T	0.08166	-1.0735	10	0.72032	D	0.01	.	18.8961	0.92424	0.0:0.0:1.0:0.0	.	879	Q9ULK0	GRID1_HUMAN	S	879;450	ENSP00000330148:R879S;ENSP00000444455:R450S	ENSP00000330148:R879S	R	-	1	0	GRID1	87352405	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.987000	0.88182	2.703000	0.92315	0.591000	0.81541	CGC		0.577	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		3	20	1	0	0.150653	1	0.150653	3	20				
FLNC	2318	broad.mit.edu	37	7	128484983	128484983	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr7:128484983C>T	ENST00000325888.8	+	21	3725	c.3464C>T	c.(3463-3465)cCg>cTg	p.P1155L	FLNC_ENST00000346177.6_Missense_Mutation_p.P1155L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1155					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.P1155L(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGTTTGACCCGAGCAAGGTG	0.652																																						ENST00000325888.8																			1	Substitution - Missense(1)	p.P1155L(1)	ovary(1)	biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(3463-3465)cCg>cTg		filamin C, gamma							59.0	64.0	62.0					7																	128484983		2108	4228	6336	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128484983C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3464C>T	7.37:g.128484983C>T	ENSP00000327145:p.Pro1155Leu					FLNC_ENST00000346177.6_Missense_Mutation_p.P1155L	p.P1155L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			21	3725	+			1155					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.3464C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554408	0.65425	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.86432	-2.12;-2.12	5.56	5.56	0.83823	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92668	0.7670	M	0.89414	3.03	0.80722	D	1	D;D	0.65815	0.995;0.974	P;P	0.56343	0.796;0.698	D	0.93652	0.6974	10	0.87932	D	0	.	13.2469	0.60028	0.0:0.9179:0.0:0.0821	.	1155;1155	Q14315-2;Q14315	.;FLNC_HUMAN	L	1155	ENSP00000327145:P1155L;ENSP00000344002:P1155L	ENSP00000327145:P1155L	P	+	2	0	FLNC	128272219	0.720000	0.27996	0.959000	0.39883	0.364000	0.29643	2.972000	0.49256	2.615000	0.88500	0.555000	0.69702	CCG		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			6	57	0	0	0	1	0	6	57				
UBXN10	127733	broad.mit.edu	37	1	20517106	20517106	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr1:20517106G>A	ENST00000375099.3	+	2	136	c.52G>A	c.(52-54)Gtc>Atc	p.V18I		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	18										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						TAGCACTGTTGTCAGCACAGC	0.517																																						ENST00000375099.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						c.(52-54)Gtc>Atc		UBX domain protein 10							97.0	89.0	91.0					1																	20517106		2203	4300	6503	SO:0001583	missense	127733							g.chr1:20517106G>A	AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"""UBX domain containing"""	26354	protein-coding gene	gene with protein product			"""UBX domain containing 3"""	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.52G>A	1.37:g.20517106G>A	ENSP00000364240:p.Val18Ile						p.V18I	NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN			2	136	+			18					Q5R386	Missense_Mutation	SNP	ENST00000375099.3	37	c.52G>A	CCDS205.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.028266	0.00410	.	.	ENSG00000162543	ENST00000375099	.	.	.	5.1	0.54	0.17163	.	1.395620	0.04945	N	0.459237	T	0.13970	0.0338	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21690	-1.0238	9	0.06236	T	0.91	-0.7739	2.9758	0.05937	0.1692:0.2629:0.4461:0.1219	.	18	Q96LJ8	UBX10_HUMAN	I	18	.	ENSP00000364240:V18I	V	+	1	0	UBXN10	20389693	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.593000	0.05740	0.172000	0.19760	-0.254000	0.11334	GTC		0.517	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	NM_152376		18	76	0	0	0	1	0	18	76				
OR10J5	127385	broad.mit.edu	37	1	159505100	159505100	+	Missense_Mutation	SNP	C	C	T	rs141462119	byFrequency	TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr1:159505100C>T	ENST00000334857.2	-	1	742	c.698G>A	c.(697-699)cGg>cAg	p.R233Q		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	233			R -> W (in dbSNP:rs35393723).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GGTCTTCTTCCGGCCCTCAGC	0.483													C|||	10	0.00199681	0.0	0.0	5008	,	,		21259	0.0		0.0	False		,,,				2504	0.0102					ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(697-699)cGg>cAg		olfactory receptor, family 10, subfamily J, member 5		C	GLN/ARG	0,4406		0,0,2203	81.0	80.0	80.0		698	-1.0	0.0	1	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR10J5	NM_001004469.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	233/310	159505100	1,13005	2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505100C>T		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.698G>A	1.37:g.159505100C>T	ENSP00000334441:p.Arg233Gln						p.R233Q	NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN			1	742	-	all_hematologic(112;0.0429)		233		R -> W (in dbSNP:rs35393723).			B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.698G>A	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	C	3.972	-0.008239	0.07727	0.0	1.16E-4	ENSG00000184155	ENST00000334857	T	0.00311	8.15	4.13	-0.979	0.10276	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	L	0.53780	1.695	0.09310	N	1	B	0.29253	0.239	B	0.23419	0.046	T	0.06162	-1.0842	9	0.51188	T	0.08	.	7.1247	0.25465	0.0:0.428:0.0:0.572	.	233	Q8NHC4	O10J5_HUMAN	Q	233	ENSP00000334441:R233Q	ENSP00000334441:R233Q	R	-	2	0	OR10J5	157771724	0.000000	0.05858	0.028000	0.17463	0.031000	0.12232	-1.073000	0.03430	-0.093000	0.12396	-0.194000	0.12790	CGG		0.483	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		14	51	0	0	0	1	0	14	51				
MUC16	94025	broad.mit.edu	37	19	9086805	9086805	+	Silent	SNP	A	A	G			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr19:9086805A>G	ENST00000397910.4	-	1	5213	c.5010T>C	c.(5008-5010)agT>agC	p.S1670S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1670	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCTGTAGAACTTCTTCTTT	0.517																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(5008-5010)agT>agC		mucin 16, cell surface associated							101.0	99.0	99.0					19																	9086805		2000	4176	6176	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086805A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5010T>C	19.37:g.9086805A>G							p.S1670S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	5213	-			1670			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.5010T>C	CCDS54212.1																																																																																				0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	79	0	0	0	1	0	5	79				
CEP120	153241	broad.mit.edu	37	5	122718571	122718571	+	Missense_Mutation	SNP	C	C	G	rs372774629		TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr5:122718571C>G	ENST00000306467.5	-	13	2177	c.1873G>C	c.(1873-1875)Gta>Cta	p.V625L	CEP120_ENST00000328236.5_Missense_Mutation_p.V625L|CEP120_ENST00000306481.6_Missense_Mutation_p.V599L			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	625					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TTTTGCTGTACGGCAGATACA	0.393																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1873-1875)Gta>Cta		centrosomal protein 120kDa							100.0	96.0	97.0					5																	122718571		2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122718571C>G	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1873G>C	5.37:g.122718571C>G	ENSP00000303058:p.Val625Leu					CEP120_ENST00000328236.5_Missense_Mutation_p.V625L|CEP120_ENST00000306481.6_Missense_Mutation_p.V599L	p.V625L			Q8N960	CE120_HUMAN			13	2177	-			625					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.1873G>C	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	3.718	-0.058153	0.07317	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.81	-2.47	0.06442	.	1.668340	0.02836	N	0.127280	T	0.26376	0.0644	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19549	-1.0302	10	0.26408	T	0.33	0.039	9.4631	0.38796	0.0:0.5603:0.1901:0.2496	.	625	Q8N960	CE120_HUMAN	L	625;625;599;599	ENSP00000303058:V625L;ENSP00000327504:V625L;ENSP00000307419:V599L;ENSP00000421620:V599L	ENSP00000303058:V625L	V	-	1	0	CEP120	122746470	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.152000	0.10159	-0.128000	0.11641	-0.911000	0.02809	GTA		0.393	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		18	27	0	0	0	1	0	18	27				
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						ENST00000435989.2																			2	Substitution - coding silent(2)	p.S332S(2)	kidney(2)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(994-996)tcG>tcC		zinc finger protein 814							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron	p.S332S	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1230	-			332					A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		2	3	0	0	0	1	0	2	3				
AKAP3	10566	broad.mit.edu	37	12	4735742	4735742	+	Missense_Mutation	SNP	C	C	T	rs148740017		TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr12:4735742C>T	ENST00000545990.2	-	5	2850	c.2326G>A	c.(2326-2328)Gtc>Atc	p.V776I	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.V776I	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	776					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CATTGAAGGACGGCTTGGAGT	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20925	0.0		0.0	False		,,,				2504	0.0					ENST00000545990.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						c.(2326-2328)Gtc>Atc		A kinase (PRKA) anchor protein 3		C	ILE/VAL	6,4400	11.4+/-27.6	0,6,2197	161.0	147.0	152.0		2326	4.9	0.8	12	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	yes	missense	AKAP3	NM_006422.2	29	0,7,6496	TT,TC,CC		0.0116,0.1362,0.0538	probably-damaging	776/854	4735742	7,12999	2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4735742C>T	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.2326G>A	12.37:g.4735742C>T	ENSP00000440994:p.Val776Ile					AKAP3_ENST00000228850.1_Missense_Mutation_p.V776I	p.V776I	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN			5	2850	-			776					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.2326G>A	CCDS8531.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	17.60	3.429926	0.62844	0.001362	1.16E-4	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.11930	2.73;2.73	4.91	4.91	0.64330	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.53938	D	0.000046	T	0.38532	0.1044	M	0.78801	2.425	0.32696	N	0.513557	D	0.89917	1.0	D	0.81914	0.995	T	0.52079	-0.8623	10	0.62326	D	0.03	-24.8928	15.1144	0.72388	0.0:1.0:0.0:0.0	.	776	O75969	AKAP3_HUMAN	I	776	ENSP00000228850:V776I;ENSP00000440994:V776I	ENSP00000228850:V776I	V	-	1	0	AKAP3	4606003	0.912000	0.30974	0.832000	0.32986	0.981000	0.71138	1.714000	0.37961	2.544000	0.85801	0.655000	0.94253	GTC		0.507	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		29	66	0	0	0	1	0	29	66				
SIRT3	23410	broad.mit.edu	37	11	233049	233049	+	Missense_Mutation	SNP	G	G	A	rs1734492		TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr11:233049G>A	ENST00000382743.4	-	3	742	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	SIRT3_ENST00000532956.1_Missense_Mutation_p.R214W|SIRT3_ENST00000524564.1_Missense_Mutation_p.R150W|SIRT3_ENST00000529382.1_Missense_Mutation_p.R72W|SIRT3_ENST00000525319.1_Missense_Mutation_p.R133W|SIRT3_ENST00000528702.1_5'UTR	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	214	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		TGAAGCAGCCGGAGAAAGTAG	0.517																																						ENST00000382743.4																			0				endometrium(1)|lung(5)|urinary_tract(1)	7						c.(640-642)Cgg>Tgg		sirtuin 3							104.0	99.0	101.0					11																	233049		2203	4300	6503	SO:0001583	missense	23410				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr11:233049G>A	AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3"", ""sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"""			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.640C>T	11.37:g.233049G>A	ENSP00000372191:p.Arg214Trp					SIRT3_ENST00000525319.1_Missense_Mutation_p.R133W|SIRT3_ENST00000524564.1_Missense_Mutation_p.R150W|SIRT3_ENST00000532956.1_Missense_Mutation_p.R214W|SIRT3_ENST00000528702.1_5'UTR|SIRT3_ENST00000529382.1_Missense_Mutation_p.R72W	p.R214W	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)	3	742	-		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	214			Deacetylase sirtuin-type.		B7Z5U6|Q9Y6E8	Missense_Mutation	SNP	ENST00000382743.4	37	c.640C>T	CCDS7691.1	.	.	.	.	.	.	.	.	.	.	g	22.6	4.308319	0.81247	.	.	ENSG00000142082	ENST00000382743;ENST00000525319;ENST00000524564;ENST00000532956;ENST00000529382;ENST00000528469	T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22	5.37	4.45	0.53987	.	0.220920	0.36778	N	0.002413	T	0.52917	0.1764	H	0.94847	3.59	0.49389	D	0.99978	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.991;0.998;0.995;0.995;0.995	T	0.67432	-0.5672	10	0.87932	D	0	-13.2933	13.9595	0.64170	0.0:0.0:0.7271:0.2729	.	214;214;133;150;214	E9PM75;B7Z7G4;E9PK80;E9PN58;Q9NTG7	.;.;.;.;SIRT3_HUMAN	W	214;133;150;214;72;72	ENSP00000372191:R214W;ENSP00000435464:R133W;ENSP00000432937:R150W;ENSP00000433077:R214W;ENSP00000437216:R72W;ENSP00000432857:R72W	ENSP00000372191:R214W	R	-	1	2	SIRT3	223049	0.932000	0.31603	0.313000	0.25210	0.951000	0.60555	1.685000	0.37659	1.239000	0.43787	0.651000	0.88453	CGG		0.517	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3			18	54	0	0	0	1	0	18	54				
CCNH	902	broad.mit.edu	37	5	86707138	86707138	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr5:86707138A>G	ENST00000256897.4	-	2	367	c.143T>C	c.(142-144)cTt>cCt	p.L48P	CCNH_ENST00000504878.1_5'UTR|CCNH_ENST00000508855.1_5'Flank|CCNH_ENST00000513499.1_5'UTR	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	48					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cyclin-dependent protein kinase activating kinase holoenzyme complex (GO:0019907)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|TFIIK complex (GO:0070985)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		ATGAGGCTCAAGAAAGACTGG	0.343								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000256897.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15						c.(142-144)cTt>cCt	Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)	cyclin H							110.0	104.0	106.0					5																	86707138		2203	4300	6503	SO:0001583	missense	902				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding	g.chr5:86707138A>G	U12685	CCDS4064.1	5q13.3-q14	2014-03-28			ENSG00000134480	ENSG00000134480		"""General transcription factor IIH complex subunits"""	1594	protein-coding gene	gene with protein product	"""CDK-activating kinase complex subunit"", ""cyclin-dependent kinase-activating kinase complex subunit"", ""MO15-associated protein"", ""CAK complex subunit"""	601953				9465303	Standard	NM_001239		Approved	p34, p37, CycH	uc003kjb.3	P51946	OTTHUMG00000119077	ENST00000256897.4:c.143T>C	5.37:g.86707138A>G	ENSP00000256897:p.Leu48Pro					CCNH_ENST00000504878.1_5'UTR|CCNH_ENST00000513499.1_5'UTR	p.L48P	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)	2	367	-		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	48					Q53X72|Q8TBL9	Missense_Mutation	SNP	ENST00000256897.4	37	c.143T>C	CCDS4064.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.824198	0.90955	.	.	ENSG00000134480	ENST00000256897	T	0.20200	2.09	6.17	6.17	0.99709	Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.52403	0.1732	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.56456	-0.7976	9	.	.	.	-16.8401	16.8222	0.85835	1.0:0.0:0.0:0.0	.	48	P51946	CCNH_HUMAN	P	48	ENSP00000256897:L48P	.	L	-	2	0	CCNH	86742894	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.130000	0.89598	2.371000	0.80710	0.533000	0.62120	CTT		0.343	CCNH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239291.3	NM_001239		6	45	0	0	0	1	0	6	45				
HSD17B4	3295	broad.mit.edu	37	5	118867003	118867003	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr5:118867003C>T	ENST00000256216.6	+	22	2030	c.1897C>T	c.(1897-1899)Cgc>Tgc	p.R633C	HSD17B4_ENST00000509514.1_Missense_Mutation_p.R371C|HSD17B4_ENST00000510025.1_Missense_Mutation_p.R609C|HSD17B4_ENST00000515320.1_Missense_Mutation_p.R615C|HSD17B4_ENST00000504811.1_Missense_Mutation_p.R658C|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000414835.2_Missense_Mutation_p.R493C|HSD17B4_ENST00000513628.1_Missense_Mutation_p.R496C	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	633	SCP2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GGAAATAGGACGCCGCCTAAA	0.398																																					Colon(35;490 801 34689 41394 43344)	ENST00000504811.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.(1972-1974)Cgc>Tgc		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						93.0	93.0	93.0					5																	118867003		2202	4300	6502	SO:0001583	missense	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118867003C>T		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1897C>T	5.37:g.118867003C>T	ENSP00000256216:p.Arg633Cys					HSD17B4_ENST00000513628.1_Missense_Mutation_p.R496C|HSD17B4_ENST00000510025.1_Missense_Mutation_p.R609C|HSD17B4_ENST00000509514.1_Missense_Mutation_p.R371C|HSD17B4_ENST00000515320.1_Missense_Mutation_p.R615C|HSD17B4_ENST00000414835.2_Missense_Mutation_p.R493C|HSD17B4_ENST00000256216.6_Missense_Mutation_p.R633C|HSD17B4_ENST00000522415.1_3'UTR	p.R658C	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	23	2156	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	633			SCP2.		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	c.1972C>T	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.992821	0.74703	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.49	4.62	0.57501	SCP2 sterol-binding domain (2);	0.097511	0.85682	D	0.000000	T	0.55321	0.1913	M	0.90252	3.1	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	P;D;D;P;P	0.65874	0.899;0.939;0.91;0.885;0.892	T	0.63866	-0.6540	10	0.62326	D	0.03	-2.1257	13.6856	0.62513	0.0:0.9223:0.0:0.0776	.	658;615;609;371;633	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	C	633;615;609;658;493;496;371	ENSP00000256216:R633C;ENSP00000424613:R615C;ENSP00000424940:R609C;ENSP00000420914:R658C;ENSP00000411960:R493C;ENSP00000425993:R496C;ENSP00000426272:R371C	ENSP00000256216:R633C	R	+	1	0	HSD17B4	118894902	0.979000	0.34478	0.998000	0.56505	0.839000	0.47603	3.049000	0.49869	2.582000	0.87167	0.650000	0.86243	CGC		0.398	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		18	41	0	0	0	1	0	18	41				
TRIM39	56658	broad.mit.edu	37	6	30308085	30308085	+	Silent	SNP	G	G	A			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr6:30308085G>A	ENST00000396547.1	+	6	1000	c.840G>A	c.(838-840)acG>acA	p.T280T	TRIM39_ENST00000396551.3_Intron|TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000540416.1_Intron|TRIM39_ENST00000396548.1_Intron|TRIM39_ENST00000376659.5_Intron|TRIM39_ENST00000376656.4_Silent_p.T280T			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	280					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						CACTCTCAACGATCTGTCCAC	0.463																																						ENST00000376656.4																			0				ovary(3)	3						c.(838-840)acG>acA		tripartite motif containing 39							67.0	64.0	65.0					6																	30308085		1510	2709	4219	SO:0001819	synonymous_variant	56658							g.chr6:30308085G>A	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.840G>A	6.37:g.30308085G>A						TRIM39_ENST00000396547.1_Silent_p.T280T|TRIM39_ENST00000396551.3_Intron|TRIM39_ENST00000396548.1_Intron|TRIM39_ENST00000540416.1_Intron|TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000376659.5_Intron	p.T280T	NM_021253.3	NP_067076.2					7	1152	+								Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Silent	SNP	ENST00000396547.1	37	c.840G>A	CCDS34377.1																																																																																				0.463	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		14	44	0	0	0	1	0	14	44				
OR10G4	390264	broad.mit.edu	37	11	123886347	123886347	+	Silent	SNP	C	C	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr11:123886347C>T	ENST00000320891.4	+	1	66	c.66C>T	c.(64-66)gaC>gaT	p.D22D		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CAGGGCTGGACGCCCTCCTCT	0.582																																						ENST00000320891.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(64-66)gaC>gaT		olfactory receptor, family 10, subfamily G, member 4							160.0	110.0	127.0					11																	123886347		2202	4297	6499	SO:0001819	synonymous_variant	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886347C>T	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.66C>T	11.37:g.123886347C>T							p.D22D	NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	66	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	22					Q6IEW0	Silent	SNP	ENST00000320891.4	37	c.66C>T	CCDS31702.1																																																																																				0.582	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		41	77	0	0	0	1	0	41	77				
ADAMTS2	9509	broad.mit.edu	37	5	178585819	178585819	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr5:178585819G>A	ENST00000251582.7	-	6	1138	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.A346V	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	346	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTGGAGGTAGGCCCAGCGGCA	0.592																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(1036-1038)gCc>gTc		ADAM metallopeptidase with thrombospondin type 1 motif, 2							118.0	104.0	109.0					5																	178585819		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178585819G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1037C>T	5.37:g.178585819G>A	ENSP00000251582:p.Ala346Val					ADAMTS2_ENST00000274609.5_Missense_Mutation_p.A346V	p.A346V	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	6	1138	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	346			Peptidase M12B.			Missense_Mutation	SNP	ENST00000251582.7	37	c.1037C>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	36	5.669250	0.96754	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	D;D	0.86769	-2.17;-2.17	5.79	5.79	0.91817	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.56097	D	0.000031	D	0.92280	0.7551	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.994;0.999	D	0.92102	0.5689	10	0.59425	D	0.04	.	19.0316	0.92959	0.0:0.0:1.0:0.0	.	346;346	O95450-2;O95450	.;ATS2_HUMAN	V	346	ENSP00000251582:A346V;ENSP00000274609:A346V	ENSP00000251582:A346V	A	-	2	0	ADAMTS2	178518425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.675000	0.98638	2.731000	0.93534	0.650000	0.86243	GCC		0.592	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		7	59	0	0	0	1	0	7	59				
DTX3L	151636	broad.mit.edu	37	3	122283293	122283293	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr3:122283293C>T	ENST00000296161.4	+	1	209	c.20C>T	c.(19-21)cCg>cTg	p.P7L	DTX3L_ENST00000383661.3_Missense_Mutation_p.P7L|PARP9_ENST00000477522.2_5'UTR|PARP9_ENST00000360356.2_5'UTR|PARP9_ENST00000462315.1_5'Flank|PARP9_ENST00000492382.1_5'Flank|PARP9_ENST00000471785.1_5'Flank	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	7					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CACCTGCGCCCGCCGTCCCCG	0.736																																						ENST00000296161.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(19-21)cCg>cTg		deltex 3-like (Drosophila)							17.0	22.0	20.0					3																	122283293		2199	4293	6492	SO:0001583	missense	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122283293C>T		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.20C>T	3.37:g.122283293C>T	ENSP00000296161:p.Pro7Leu					DTX3L_ENST00000383661.3_Missense_Mutation_p.P7L|PARP9_ENST00000360356.2_5'UTR|PARP9_ENST00000477522.2_5'UTR	p.P7L	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	1	209	+			7					B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	c.20C>T	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842695	0.71488	.	.	ENSG00000163840	ENST00000296161;ENST00000383661	T;T	0.60797	0.44;0.16	4.7	4.7	0.59300	.	0.000000	0.44902	D	0.000406	T	0.73505	0.3595	M	0.69823	2.125	0.43080	D	0.994738	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77016	-0.2744	10	0.87932	D	0	-14.3404	12.9988	0.58664	0.0:1.0:0.0:0.0	.	7;7	Q8TDB6-2;Q8TDB6	.;DTX3L_HUMAN	L	7	ENSP00000296161:P7L;ENSP00000373157:P7L	ENSP00000296161:P7L	P	+	2	0	DTX3L	123765983	0.024000	0.19004	0.994000	0.49952	0.273000	0.26683	1.209000	0.32357	2.400000	0.81607	0.655000	0.94253	CCG		0.736	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		5	20	0	0	0	1	0	5	20				
PCDH11Y	83259	broad.mit.edu	37	Y	4968185	4968185	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chrY:4968185G>T	ENST00000333703.4	+	5	3046	c.2533G>T	c.(2533-2535)Gtc>Ttc	p.V845F	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.V856F|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.V856F	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	856					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CACCATAACTGTCGTTGTAGT	0.468																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(2533-2535)Gtc>Ttc		protocadherin 11 Y-linked																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4968185G>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.2533G>T	Y.37:g.4968185G>T	ENSP00000330552:p.Val845Phe					PCDH11Y_ENST00000215473.6_Missense_Mutation_p.V856F|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.V856F	p.V845F	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			5	3046	+			856					Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.2533G>T	CCDS14776.1																																																																																				0.468	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		33	8	1	0	1.22674e-20	1	1.32621e-20	33	8				
FLRT3	23767	broad.mit.edu	37	20	14306920	14306920	+	Silent	SNP	A	A	G			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr20:14306920A>G	ENST00000378053.3	-	2	1489	c.1233T>C	c.(1231-1233)atT>atC	p.I411I	FLRT3_ENST00000462077.1_5'Flank|FLRT3_ENST00000341420.4_Silent_p.I411I|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	411	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CAGTAATTGTAATTGTTTTTC	0.458																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1231-1233)atT>atC		fibronectin leucine rich transmembrane protein 3							162.0	159.0	160.0					20																	14306920		2203	4300	6503	SO:0001819	synonymous_variant	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14306920A>G	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1233T>C	20.37:g.14306920A>G						MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.I411I|MACROD2_ENST00000310348.4_Intron	p.I411I	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	1489	-		Colorectal(1;0.0464)	411			Fibronectin type-III.		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Silent	SNP	ENST00000378053.3	37	c.1233T>C	CCDS13121.1																																																																																				0.458	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		50	143	0	0	0	1	0	50	143				
MKI67	4288	broad.mit.edu	37	10	129906577	129906577	+	Missense_Mutation	SNP	G	G	A	rs117795868		TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr10:129906577G>A	ENST00000368654.3	-	13	3902	c.3527C>T	c.(3526-3528)aCg>aTg	p.T1176M	MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1176	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGTTTGGGCGTAAGCATGGC	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		21842	0.001		0.0	False		,,,				2504	0.0					ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3526-3528)aCg>aTg		marker of proliferation Ki-67							292.0	278.0	283.0					10																	129906577		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906577G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3527C>T	10.37:g.129906577G>A	ENSP00000357643:p.Thr1176Met					MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	p.T1176M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3902	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1176			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3527C>T	CCDS7659.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.05	1.822665	0.32237	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03301	3.98;3.98	2.74	1.83	0.25207	.	1.848640	0.03443	N	0.209516	T	0.15998	0.0385	M	0.72118	2.19	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.96;0.991;0.989	T	0.06058	-1.0848	10	0.52906	T	0.07	.	5.4955	0.16799	0.1565:0.0:0.8435:0.0	.	1175;816;1176	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	M	1176;816;1175	ENSP00000357643:T1176M;ENSP00000357642:T816M	ENSP00000357642:T816M	T	-	2	0	MKI67	129796567	0.005000	0.15991	0.002000	0.10522	0.005000	0.04900	0.110000	0.15437	0.740000	0.32651	0.462000	0.41574	ACG		0.463	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		4	235	0	0	0	1	0	4	235				
ZNF229	7772	broad.mit.edu	37	19	44933129	44933129	+	Silent	SNP	G	G	A			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr19:44933129G>A	ENST00000588931.1	-	6	2260	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Silent_p.F603F	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	609					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGCTGTAGATGAAACCCTTCC	0.557																																						ENST00000291187.4																			0				breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(1807-1809)ttC>ttT		zinc finger protein 229							73.0	79.0	77.0					19																	44933129		2178	4293	6471	SO:0001819	synonymous_variant	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933129G>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1827C>T	19.37:g.44933129G>A						CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.F609F	p.F603F	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN			6	2131	-		Prostate(69;0.0352)	609					B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.1809C>T	CCDS42574.1																																																																																				0.557	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		14	65	0	0	0	1	0	14	65				
SEMA6C	10500	broad.mit.edu	37	1	151111116	151111116	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr1:151111116C>T	ENST00000341697.3	-	7	2137	c.446G>A	c.(445-447)cGc>cAc	p.R149H				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	149	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCATAGCTGCGGCACACAGG	0.547																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(445-447)cGc>cAc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							81.0	75.0	77.0					1																	151111116		2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151111116C>T	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.446G>A	1.37:g.151111116C>T	ENSP00000344148:p.Arg149His						p.R149H			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	2137	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		149			Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.446G>A	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132426	0.94473	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.06	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.34745	0.0908	M	0.91717	3.235	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.993;0.998;0.996	T	0.40136	-0.9579	10	0.87932	D	0	.	15.9776	0.80083	0.0:1.0:0.0:0.0	.	149;149;149;149	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	H	149	ENSP00000357910:R149H;ENSP00000357908:R149H;ENSP00000357909:R149H;ENSP00000344148:R149H	ENSP00000344148:R149H	R	-	2	0	SEMA6C	149377740	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.504000	0.66968	2.642000	0.89623	0.561000	0.74099	CGC		0.547	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		4	40	0	0	0	1	0	4	40				
MUC16	94025	broad.mit.edu	37	19	9085096	9085096	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr19:9085096G>T	ENST00000397910.4	-	1	6922	c.6719C>A	c.(6718-6720)cCt>cAt	p.P2240H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2240	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCATCTGAAGGTGTGTCAAT	0.473																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(6718-6720)cCt>cAt		mucin 16, cell surface associated							112.0	107.0	109.0					19																	9085096		1970	4173	6143	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085096G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6719C>A	19.37:g.9085096G>T	ENSP00000381008:p.Pro2240His						p.P2240H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	6922	-			2240			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6719C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.743	-0.775494	0.02951	.	.	ENSG00000181143	ENST00000397910	T	0.03301	3.98	0.225	0.225	0.15325	.	.	.	.	.	T	0.05547	0.0146	N	0.08118	0	.	.	.	D	0.76494	0.999	D	0.72982	0.979	T	0.41360	-0.9513	7	0.87932	D	0	.	.	.	.	.	2240	B5ME49	.	H	2240	ENSP00000381008:P2240H	ENSP00000381008:P2240H	P	-	2	0	MUC16	8946096	0.082000	0.21442	0.060000	0.19600	0.064000	0.16182	0.792000	0.26929	0.300000	0.22699	0.305000	0.20034	CCT		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	19	1	0	2.80697e-09	1	2.87895e-09	11	19				
TP53	7157	broad.mit.edu	37	17	7579402	7579418	+	Frame_Shift_Del	DEL	AGATGACAGGGGCCAGG	AGATGACAGGGGCCAGG	-			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr17:7579402_7579418delAGATGACAGGGGCCAGG	ENST00000269305.4	-	4	458_474	c.269_285delCCTGGCCCCTGTCATCT	c.(268-285)tcctggcccctgtcatctfs	p.SWPLSS90fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	90	Interaction with WWOX.		S -> F (in sporadic cancers; somatic mutation).|S -> Y (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.W91*(20)|p.0?(8)|p.L93fs*30(5)|p.A88fs*32(3)|p.S95F(3)|p.A76_S90del15(3)|p.S94*(3)|p.G59fs*23(3)|p.S94T(2)|p.S94fs*29(1)|p.P85fs*58(1)|p.W91fs*57(1)|p.W91fs*13(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93M(1)|p.P87fs*54(1)|p.S96fs*53(1)|p.P92fs*57(1)|p.S94fs*54(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S90F(1)|p.P92A(1)|p.P92L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGG	0.631		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		67	Substitution - Nonsense(23)|Deletion - Frameshift(22)|Substitution - Missense(9)|Whole gene deletion(8)|Deletion - In frame(3)|Insertion - Frameshift(2)	p.W91*(20)|p.0?(8)|p.L93fs*30(5)|p.A88fs*32(3)|p.S95F(3)|p.A76_S90del15(3)|p.S94*(3)|p.G59fs*23(3)|p.S94T(2)|p.S94fs*29(1)|p.P85fs*58(1)|p.W91fs*57(1)|p.W91fs*13(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93M(1)|p.P87fs*54(1)|p.S96fs*53(1)|p.P92fs*57(1)|p.S94fs*54(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S90F(1)|p.P92A(1)|p.P92L(1)	lung(16)|breast(10)|upper_aerodigestive_tract(7)|haematopoietic_and_lymphoid_tissue(6)|urinary_tract(6)|skin(5)|prostate(4)|bone(4)|central_nervous_system(3)|large_intestine(2)|oesophagus(2)|stomach(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM065495	TP53	M		c.(268-285)tfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579402_7579418delAGATGACAGGGGCCAGG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.269_285delCCTGGCCCCTGTCATCT	17.37:g.7579402_7579418delAGATGACAGGGGCCAGG	ENSP00000269305:p.Ser90fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.SWPLSS90fs	p.SWPLSS90fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	401_417	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	90		S -> F (in sporadic cancers; somatic mutation).|S -> Y (in a sporadic cancer; somatic mutation).	Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.269_285delCCTGGCCCCTGTCATCT	CCDS11118.1																																																																																				0.631	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	31						28	31	---	---	---	---
MIR646HG	284757	broad.mit.edu	37	20	58883399	58883400	+	lincRNA	INS	-	-	T	rs35369169|rs111867069|rs11408280	byFrequency	TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr20:58883399_58883400insT	ENST00000432910.1	+	0	332				MIR646_ENST00000385067.1_RNA	NR_046099.1																						ggaccgggaaacagatgcttac	0.569													T|-|T|deletion	1366	0.272764	0.4244	0.1657	5008	,	,		18567	0.127		0.2455	False		,,,				2504	0.3221					ENST00000432910.1																			0																																																			0							g.chr20:58883399_58883400insT																													20.37:g.58883399_58883400insT								NR_046099.1						0	332	+									RNA	INS	ENST00000432910.1	37																																																																																						0.569	RP5-1043L13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000079947.1			5	2						5	2	---	---	---	---
