#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
CYP2C8	1558	broad.mit.edu	37	10	96824643	96824643	+	Nonsense_Mutation	SNP	G	G	A	rs72558195	byFrequency	TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr10:96824643G>A	ENST00000371270.3	-	4	650	c.556C>T	c.(556-558)Cga>Tga	p.R186*	CYP2C8_ENST00000535898.1_Nonsense_Mutation_p.R84*|CYP2C8_ENST00000539050.1_Nonsense_Mutation_p.R100*	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	186					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	TAATCAAATCGTTTCTGGAAA	0.388																																						ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21	GRCh37	CM057666|CM057667	CYP2C8	M	rs72558195	c.(556-558)Cga>Tga		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	G	stop/ARG,stop/ARG,stop/ARG,stop/ARG	3,4403	8.1+/-20.4	0,3,2200	95.0	91.0	93.0		556,346,250,346	3.5	1.0	10	dbSNP_130	93	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained,stop-gained,stop-gained,stop-gained	CYP2C8	NM_000770.3,NM_001198853.1,NM_001198854.1,NM_001198855.1	,,,	0,5,6498	AA,AG,GG		0.0233,0.0681,0.0384	,,,	186/491,116/421,84/389,116/421	96824643	5,13001	2203	4300	6503	SO:0001587	stop_gained	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96824643G>A	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.556C>T	10.37:g.96824643G>A	ENSP00000360317:p.Arg186*					CYP2C8_ENST00000535898.1_Nonsense_Mutation_p.R84*|CYP2C8_ENST00000539050.1_Nonsense_Mutation_p.R100*	p.R186*	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	4	650	-		Colorectal(252;0.0397)	186					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Nonsense_Mutation	SNP	ENST00000371270.3	37	c.556C>T	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	G	41	8.871146	0.98984	6.81E-4	2.33E-4	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	.	.	.	4.45	3.54	0.40534	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0328	0.42111	0.1022:0.0:0.8978:0.0	.	.	.	.	X	186;153;84;100	.	ENSP00000360317:R186X	R	-	1	2	CYP2C8	96814633	0.959000	0.32827	0.993000	0.49108	0.886000	0.51366	3.409000	0.52657	0.865000	0.35603	0.313000	0.20887	CGA		0.388	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		40	34	0	0	0	1	0	40	34				
FMN1	342184	broad.mit.edu	37	15	33260987	33260987	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr15:33260987C>T	ENST00000559047.1	-	5	2914	c.2915G>A	c.(2914-2916)cGa>cAa	p.R972Q	FMN1_ENST00000561249.1_Missense_Mutation_p.R874Q|FMN1_ENST00000334528.9_Missense_Mutation_p.R749Q|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1	972	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGCTGGTTTTCGAGGACATTG	0.537																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(2245-2247)cGa>cAa		formin 1							115.0	111.0	112.0					15																	33260987		1829	4085	5914	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33260987C>T	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2915G>A	15.37:g.33260987C>T	ENSP00000454047:p.Arg972Gln					FMN1_ENST00000559047.1_Missense_Mutation_p.R972Q|FMN1_ENST00000561249.1_Missense_Mutation_p.R874Q	p.R749Q	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	2245	-		all_lung(180;1.14e-07)	972			Mediates interaction with alpha-catenin (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.2246G>A		.	.	.	.	.	.	.	.	.	.	C	16.70	3.194789	0.58017	.	.	ENSG00000248905	ENST00000334528	T	0.41400	1.0	4.42	3.5	0.40072	.	0.062214	0.64402	D	0.000004	T	0.67221	0.2870	M	0.85041	2.73	.	.	.	D	0.89917	1.0	D	0.83275	0.996	T	0.78505	-0.2178	9	0.72032	D	0.01	.	14.5984	0.68422	0.0:0.8532:0.1467:0.0	.	749	Q68DA7-5	.	Q	749	ENSP00000333950:R749Q	ENSP00000333950:R749Q	R	-	2	0	FMN1	31048279	1.000000	0.71417	0.994000	0.49952	0.358000	0.29455	5.816000	0.69222	1.080000	0.41073	-0.133000	0.14855	CGA		0.537	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		39	72	0	0	0	1	0	39	72				
NRD1	4898	broad.mit.edu	37	1	52260509	52260509	+	Silent	SNP	C	C	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:52260509C>A	ENST00000354831.7	-	25	3015	c.2826G>T	c.(2824-2826)ctG>ctT	p.L942L	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Silent_p.L810L|NRD1_ENST00000544028.1_3'UTR|RP4-657D16.3_ENST00000588291.1_RNA|RP4-657D16.3_ENST00000591675.1_RNA|RP4-657D16.3_ENST00000586761.1_RNA|NRD1_ENST00000352171.7_Silent_p.L874L	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	873					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CAACATATTTCAGGAAATCCA	0.358																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(2824-2826)ctG>ctT		nardilysin (N-arginine dibasic convertase)							82.0	85.0	84.0					1																	52260509		2203	4300	6503	SO:0001819	synonymous_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52260509C>A	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.2826G>T	1.37:g.52260509C>A						RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000544028.1_3'UTR|NRD1_ENST00000539524.1_Silent_p.L810L|RP4-657D16.3_ENST00000586761.1_RNA|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.L874L	p.L942L	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			25	3015	-			873					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Silent	SNP	ENST00000354831.7	37	c.2826G>T	CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	8.609	0.888727	0.17540	.	.	ENSG00000078618	ENST00000440943	.	.	.	5.65	2.76	0.32466	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.1167	8.3694	0.32406	0.0:0.7309:0.1289:0.1402	.	.	.	.	X	289	.	.	E	-	1	0	NRD1	52033097	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.968000	0.40500	0.465000	0.27167	-0.176000	0.13171	GAA		0.358	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		36	111	1	0	5.71845e-15	1	6.44332e-15	36	111				
VPS13B	157680	broad.mit.edu	37	8	100520058	100520058	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:100520058C>G	ENST00000358544.2	+	28	4329	c.4218C>G	c.(4216-4218)gaC>gaG	p.D1406E	VPS13B_ENST00000357162.2_Intron|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1406					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTGTACTGACAAGCTGAACA	0.458																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(4216-4218)gaC>gaG		vacuolar protein sorting 13 homolog B (yeast)							203.0	171.0	182.0					8																	100520058		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100520058C>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4218C>G	8.37:g.100520058C>G	ENSP00000351346:p.Asp1406Glu					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Intron	p.D1406E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		28	4329	+	Breast(36;3.73e-07)		1406					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.4218C>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	8.879	0.951240	0.18431	.	.	ENSG00000132549	ENST00000358544	T	0.39787	1.06	5.64	4.74	0.60224	.	0.161807	0.51477	N	0.000096	T	0.20333	0.0489	N	0.03115	-0.41	0.80722	D	1	B;B	0.16603	0.005;0.018	B;B	0.15052	0.01;0.012	T	0.09662	-1.0664	10	0.07175	T	0.84	.	16.2887	0.82737	0.0:0.8672:0.1328:0.0	.	1405;1406	Q7Z7G8-6;Q7Z7G8	.;VP13B_HUMAN	E	1406	ENSP00000351346:D1406E	ENSP00000351346:D1406E	D	+	3	2	VPS13B	100589234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.838000	0.69388	1.329000	0.45376	0.591000	0.81541	GAC		0.458	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		29	74	0	0	0	1	0	29	74				
RUNDC3A	10900	broad.mit.edu	37	17	42390486	42390486	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:42390486G>A	ENST00000426726.3	+	3	512	c.238G>A	c.(238-240)Ggt>Agt	p.G80S	AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000590941.1_Splice_Site|RUNDC3A_ENST00000225441.7_Missense_Mutation_p.G80S	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	80	Interaction with RAP2A. {ECO:0000250}.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCCCCAGCAGGTCCAGTGAG	0.592																																					Pancreas(82;1061 1416 11136 20771 23901)	ENST00000426726.3																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.(238-240)Ggt>Agt		RUN domain containing 3A							38.0	41.0	40.0					17																	42390486		1963	4160	6123	SO:0001583	missense	10900				small GTPase mediated signal transduction		small GTPase regulator activity	g.chr17:42390486G>A	AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.238G>A	17.37:g.42390486G>A	ENSP00000410862:p.Gly80Ser					RUNDC3A_ENST00000225441.7_Missense_Mutation_p.G80S|AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000590941.1_Splice_Site	p.G80S	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	3	512	+		Prostate(33;0.0233)	80			Interaction with RAP2A (By similarity).|RUN.		B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Missense_Mutation	SNP	ENST00000426726.3	37	c.238G>A	CCDS45698.1	.	.	.	.	.	.	.	.	.	.	g	31	5.071232	0.93950	.	.	ENSG00000108309	ENST00000426726;ENST00000225441	T;T	0.12039	2.72;2.72	4.48	4.48	0.54585	RUN (2);	0.058323	0.64402	D	0.000002	T	0.38295	0.1035	M	0.79805	2.47	0.80722	D	1	D;D;D	0.76494	0.997;0.997;0.999	D;P;D	0.64595	0.926;0.878;0.927	T	0.39057	-0.9632	10	0.87932	D	0	-10.1514	16.0863	0.81056	0.0:0.0:1.0:0.0	.	80;80;80	Q59EK9;Q59EK9-4;Q59EK9-3	RUN3A_HUMAN;.;.	S	80	ENSP00000410862:G80S;ENSP00000225441:G80S	ENSP00000225441:G80S	G	+	1	0	RUNDC3A	39746012	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.091000	0.94151	2.327000	0.79052	0.462000	0.41574	GGT		0.592	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403173.2	NM_006695		6	31	0	0	0	1	0	6	31				
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	290	Pro-rich.							p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562																																						ENST00000360151.4																			2	Substitution - Missense(2)	p.L290F(2)	kidney(2)								c.(868-870)Ctc>Ttc		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457701G>A		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.868C>T	16.37:g.15457701G>A	ENSP00000433597:p.Leu290Phe						p.L290F	NM_001277325.1	NP_001264254.1					8	867	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.868C>T	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	4.044	0.005714	0.07866	.	.	ENSG00000183793	ENST00000360151	T	0.56275	0.47	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.62723	1.935	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	0.36615	T	0.2	.	.	.	.	.	.	.	.	F	290	ENSP00000433597:L290F	ENSP00000433597:L290F	L	-	1	0	RP11-82O18.1	15365202	.	.	.	.	.	.	.	.	.	.	.	.	CTC		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			5	147	0	0	0	1	0	5	147				
TP53	7157	broad.mit.edu	37	17	7578236	7578236	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:7578236A>G	ENST00000269305.4	-	6	802	c.613T>C	c.(613-615)Tat>Cat	p.Y205H	TP53_ENST00000455263.2_Missense_Mutation_p.Y205H|TP53_ENST00000420246.2_Missense_Mutation_p.Y205H|TP53_ENST00000359597.4_Missense_Mutation_p.Y205H|TP53_ENST00000445888.2_Missense_Mutation_p.Y205H|TP53_ENST00000413465.2_Missense_Mutation_p.Y205H|TP53_ENST00000574684.1_Intron	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	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y205D(13)|p.0?(8)|p.Y205N(8)|p.?(5)|p.Y205H(5)|p.Y112N(2)|p.Y73N(2)|p.Y205fs*43(1)|p.Y205fs*42(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(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)	TCATCCAAATACTCCACACGC	0.542		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"""		48	Substitution - Missense(30)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Deletion - In frame(1)|Insertion - Frameshift(1)	p.Y205D(13)|p.0?(8)|p.Y205N(8)|p.?(5)|p.Y205H(5)|p.Y112N(2)|p.Y73N(2)|p.Y205fs*43(1)|p.Y205fs*42(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(1)	haematopoietic_and_lymphoid_tissue(6)|biliary_tract(5)|large_intestine(5)|endometrium(5)|upper_aerodigestive_tract(4)|central_nervous_system(4)|bone(4)|breast(3)|pancreas(3)|stomach(2)|lung(2)|skin(2)|urinary_tract(1)|oesophagus(1)|ovary(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						c.(613-615)Tat>Cat	Other conserved DNA damage response genes	tumor protein p53							136.0	121.0	126.0					17																	7578236		2203	4300	6503	SO:0001583	missense	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.chr17:7578236A>G	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.613T>C	17.37:g.7578236A>G	ENSP00000269305:p.Tyr205His	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_ENST00000445888.2_Missense_Mutation_p.Y205H|TP53_ENST00000269305.4_Missense_Mutation_p.Y205H|TP53_ENST00000455263.2_Missense_Mutation_p.Y205H|TP53_ENST00000413465.2_Missense_Mutation_p.Y205H|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y205H	p.Y205H	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)	6	745	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	205		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.613T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.361009	0.82353	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99859	0.9934	M	0.88906	2.99	0.58432	D	0.999998	B;P;P;P;P;B;D	0.89917	0.345;0.797;0.945;0.593;0.725;0.29;1.0	P;P;P;P;P;P;D	0.80764	0.56;0.809;0.87;0.672;0.832;0.672;0.994	D	0.96416	0.9308	10	0.87932	D	0	-5.8058	13.709	0.62656	1.0:0.0:0.0:0.0	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205H;ENSP00000352610:Y205H;ENSP00000269305:Y205H;ENSP00000398846:Y205H;ENSP00000391127:Y205H;ENSP00000391478:Y205H;ENSP00000425104:Y73H;ENSP00000423862:Y112H	ENSP00000269305:Y205H	Y	-	1	0	TP53	7518961	1.000000	0.71417	0.163000	0.22734	0.042000	0.13812	7.465000	0.80898	2.183000	0.69458	0.533000	0.62120	TAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	29	0	0	0	1	0	14	29				
DCSTAMP	81501	broad.mit.edu	37	8	105367371	105367371	+	Silent	SNP	G	G	A	rs150633288		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:105367371G>A	ENST00000297581.2	+	3	1345	c.1296G>A	c.(1294-1296)ccG>ccA	p.P432P	DCSTAMP_ENST00000520080.1_3'UTR|DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	432					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											CAAAGCAGCCGCTGGGAGAAG	0.458																																						ENST00000297581.2																			0											c.(1294-1296)ccG>ccA		dendrocyte expressed seven transmembrane protein							54.0	57.0	56.0					8																	105367371		2203	4300	6503	SO:0001819	synonymous_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105367371G>A	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1296G>A	8.37:g.105367371G>A						DCSTAMP_ENST00000517991.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR|DPYS_ENST00000521601.1_Intron	p.P432P	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN			3	1345	+			432					B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	c.1296G>A	CCDS6301.1																																																																																				0.458	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		10	57	0	0	0	1	0	10	57				
CDHR5	53841	broad.mit.edu	37	11	618782	618782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr11:618782G>A	ENST00000358353.3	-	14	2099	c.1777C>T	c.(1777-1779)Caa>Taa	p.Q593*	IRF7_ENST00000397562.3_5'Flank|CDHR5_ENST00000397542.2_Nonsense_Mutation_p.Q593*|CDHR5_ENST00000349570.7_Intron|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000330243.5_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	593	4 X 31 AA approximate tandem repeats.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTGGCTGGTTGGTGGGAGGTG	0.662																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(1777-1779)Caa>Taa		cadherin-related family member 5							100.0	108.0	105.0					11																	618782		2203	4300	6503	SO:0001587	stop_gained	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:618782G>A	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1777C>T	11.37:g.618782G>A	ENSP00000351118:p.Gln593*					CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Nonsense_Mutation_p.Q593*	p.Q593*			Q9HBB8	CDHR5_HUMAN			14	2099	-			593			4 X 31 AA approximate tandem repeats.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Nonsense_Mutation	SNP	ENST00000358353.3	37	c.1777C>T	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	g	33	5.287905	0.95517	.	.	ENSG00000099834	ENST00000397542;ENST00000358353	.	.	.	2.83	-0.376	0.12505	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2121	3.5501	0.07843	0.2463:0.0:0.5568:0.1969	.	.	.	.	X	593	.	ENSP00000351118:Q593X	Q	-	1	0	CDHR5	608782	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	-0.687000	0.05156	-0.200000	0.10300	0.561000	0.74099	CAA		0.662	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		6	161	0	0	0	1	0	6	161				
PCDHGA7	56108	broad.mit.edu	37	5	140763942	140763942	+	Silent	SNP	C	C	T	rs190245807		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr5:140763942C>T	ENST00000518325.1	+	1	1476	c.1476C>T	c.(1474-1476)gcC>gcT	p.A492A	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	492	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCCTTGGCCGAAGACACCA	0.512																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(1474-1476)gcC>gcT									48.0	50.0	50.0					5																	140763942		1935	4168	6103	SO:0001819	synonymous_variant	0							g.chr5:140763942C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1476C>T	5.37:g.140763942C>T						PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.A492A	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1476	+								B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.1476C>T	CCDS54927.1																																																																																				0.512	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		9	28	0	0	0	1	0	9	28				
SPOP	8405	broad.mit.edu	37	17	47696430	47696430	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:47696430C>G	ENST00000393328.2	-	6	758	c.393G>C	c.(391-393)tgG>tgC	p.W131C	SPOP_ENST00000504102.1_Missense_Mutation_p.W131C|SPOP_ENST00000347630.2_Missense_Mutation_p.W131C|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000393331.3_Missense_Mutation_p.W131C|SPOP_ENST00000503676.1_Missense_Mutation_p.W131C	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TCTTGAATCCCCAGTCTTTGC	0.453										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)tgG>tgC		speckle-type POZ protein							121.0	123.0	122.0					17																	47696430		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696430C>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.393G>C	17.37:g.47696430C>G	ENSP00000377001:p.Trp131Cys	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.W131C|SPOP_ENST00000347630.2_Missense_Mutation_p.W131C|SPOP_ENST00000393328.2_Missense_Mutation_p.W131C|SPOP_ENST00000503676.1_Missense_Mutation_p.W131C	p.W131C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	863	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.393G>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214115	0.79352	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.84808	0.5554	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86651	0.1898	10	0.72032	D	0.01	0.1404	18.9712	0.92715	0.0:1.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	C	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131C;ENSP00000377004:W131C;ENSP00000240327:W131C;ENSP00000425905:W131C;ENSP00000420908:W131C;ENSP00000426986:W131C;ENSP00000420960:W131C;ENSP00000426262:W131C;ENSP00000424119:W131C	ENSP00000240327:W131C	W	-	3	0	SPOP	45051429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.583000	0.82559	2.802000	0.96397	0.563000	0.77884	TGG		0.453	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		35	91	0	0	0	1	0	35	91				
ATP2B2	491	broad.mit.edu	37	3	10491154	10491154	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr3:10491154C>A	ENST00000352432.4	-	1	143	c.74G>T	c.(73-75)gGg>gTg	p.G25V	ATP2B2_ENST00000383800.4_Missense_Mutation_p.G25V|ATP2B2_ENST00000360273.2_Missense_Mutation_p.G25V|ATP2B2_ENST00000397077.1_Missense_Mutation_p.G25V|ATP2B2_ENST00000343816.4_Missense_Mutation_p.G25V			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	25					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CATTGTGCACCCGAACTCGCC	0.577																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(73-75)gGg>gTg		ATPase, Ca++ transporting, plasma membrane 2							118.0	106.0	110.0					3																	10491154		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10491154C>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.74G>T	3.37:g.10491154C>A	ENSP00000324172:p.Gly25Val					ATP2B2_ENST00000343816.4_Missense_Mutation_p.G25V|ATP2B2_ENST00000383800.4_Missense_Mutation_p.G25V|ATP2B2_ENST00000352432.4_Missense_Mutation_p.G25V|ATP2B2_ENST00000360273.2_Missense_Mutation_p.G25V	p.G25V			Q01814	AT2B2_HUMAN			4	649	-			25					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.74G>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255785	0.80135	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000342354	D;D;D;D;D	0.92911	-3.13;-3.11;-3.11;-3.13;-3.11	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.95909	0.8668	M	0.81614	2.55	0.80722	D	1	D;P;D	0.89917	1.0;0.956;0.969	D;P;P	0.91635	0.999;0.822;0.507	D	0.96522	0.9386	10	0.87932	D	0	-29.6571	15.2863	0.73831	0.0:1.0:0.0:0.0	.	25;37;25	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	V	25	ENSP00000324172:G25V;ENSP00000373311:G25V;ENSP00000380267:G25V;ENSP00000353414:G25V;ENSP00000344677:G25V	ENSP00000342954:G25V	G	-	2	0	ATP2B2	10466154	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.971000	0.70440	2.192000	0.70111	0.462000	0.41574	GGG		0.577	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		15	64	1	0	3.27435e-08	1	3.44669e-08	15	64				
CYP4F24P	388514	broad.mit.edu	37	19	15890693	15890693	+	IGR	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:15890693C>G								LLNLR-249E10.1 (9055 upstream) : OR10H5 (14067 downstream)																							CTGCCCGAGGCCCAGCCAGGA	0.667																																						ENST00000587443.2																			0																																																	SO:0001628	intergenic_variant	0							g.chr19:15890693C>G																													19.37:g.15890693C>G								NR_033864.1						0	104	-									RNA	SNP		37																																																																																					0	0.667									3	33	0	0	0	1	0	3	33				
MANBA	4126	broad.mit.edu	37	4	103585858	103585858	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr4:103585858C>G	ENST00000226578.4	-	11	1568	c.1469G>C	c.(1468-1470)aGa>aCa	p.R490T	MANBA_ENST00000505239.1_Missense_Mutation_p.R433T	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	490					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TACGAGCTCTCTGATGTTTTT	0.433																																						ENST00000226578.4																			0				cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1468-1470)aGa>aCa		mannosidase, beta A, lysosomal							120.0	119.0	119.0					4																	103585858		2203	4300	6503	SO:0001583	missense	4126				carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	g.chr4:103585858C>G		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.1469G>C	4.37:g.103585858C>G	ENSP00000226578:p.Arg490Thr					MANBA_ENST00000505239.1_Missense_Mutation_p.R433T	p.R490T	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)	11	1568	-		Hepatocellular(203;0.217)	490					Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	c.1469G>C	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896949	0.72639	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	D;D	0.85556	-2.0;-2.0	5.59	5.59	0.84812	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.103110	0.64402	D	0.000004	D	0.89371	0.6696	L	0.60957	1.885	0.41973	D	0.990767	D;D	0.67145	0.996;0.992	P;P	0.62491	0.903;0.83	D	0.88955	0.3389	10	0.45353	T	0.12	-14.1607	14.4409	0.67318	0.1472:0.8527:0.0:0.0	.	433;490	E9PFW2;O00462	.;MANBA_HUMAN	T	490;433	ENSP00000226578:R490T;ENSP00000427322:R433T	ENSP00000226578:R490T	R	-	2	0	MANBA	103804906	0.696000	0.27757	0.960000	0.40013	0.874000	0.50279	1.315000	0.33608	2.628000	0.89032	0.655000	0.94253	AGA		0.433	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			31	85	0	0	0	1	0	31	85				
KIF16B	55614	broad.mit.edu	37	20	16485072	16485072	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr20:16485072C>T	ENST00000354981.2	-	10	1278	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	KIF16B_ENST00000378003.2_De_novo_Start_OutOfFrame|KIF16B_ENST00000355755.3_Missense_Mutation_p.R374H|KIF16B_ENST00000408042.1_Missense_Mutation_p.R374H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	374					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCGCAGCTCACGGATAAGTTT	0.408																																						ENST00000378003.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74								kinesin family member 16B							248.0	227.0	234.0					20																	16485072		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16485072C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1121G>A	20.37:g.16485072C>T	ENSP00000347076:p.Arg374His					KIF16B_ENST00000354981.2_Missense_Mutation_p.R374H|KIF16B_ENST00000408042.1_Missense_Mutation_p.R374H|KIF16B_ENST00000355755.3_Missense_Mutation_p.R374H				Q96L93	KI16B_HUMAN			0	1278	-								A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Translation_Start_Site	SNP	ENST00000354981.2	37		CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130464	0.94473	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.73469	-0.75;-0.75;-0.75	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.90456	0.7011	M	0.93462	3.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.997	D	0.92010	0.5617	10	0.87932	D	0	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	374;374;374;374	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	H	374	ENSP00000347076:R374H;ENSP00000347995:R374H;ENSP00000384164:R374H	ENSP00000347076:R374H	R	-	2	0	KIF16B	16433072	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	CGT		0.408	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		31	211	0	0	0	1	0	31	211				
MYF6	4618	broad.mit.edu	37	12	81101560	81101560	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr12:81101560C>A	ENST00000228641.3	+	1	284	c.62C>A	c.(61-63)aCt>aAt	p.T21N		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	21					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GAAAATGTTACTCTGCAGCCA	0.522																																						ENST00000228641.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						c.(61-63)aCt>aAt		myogenic factor 6 (herculin)							94.0	99.0	97.0					12																	81101560		2203	4300	6503	SO:0001583	missense	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81101560C>A		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.62C>A	12.37:g.81101560C>A	ENSP00000228641:p.Thr21Asn						p.T21N	NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN			1	284	+			21					B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	37	c.62C>A	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144412	0.37825	.	.	ENSG00000111046	ENST00000228641	T	0.75704	-0.96	5.62	5.62	0.85841	Myogenic basic muscle-specific protein (2);	0.265483	0.41823	D	0.000808	T	0.72095	0.3418	L	0.36672	1.1	0.51482	D	0.999922	B	0.30937	0.301	B	0.38985	0.287	T	0.66618	-0.5878	10	0.26408	T	0.33	.	19.6517	0.95819	0.0:1.0:0.0:0.0	.	21	P23409	MYF6_HUMAN	N	21	ENSP00000228641:T21N	ENSP00000228641:T21N	T	+	2	0	MYF6	79625691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.876000	0.56115	2.662000	0.90505	0.655000	0.94253	ACT		0.522	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		23	49	1	0	4.4004e-07	1	4.57185e-07	23	49				
ACAN	176	broad.mit.edu	37	15	89398503	89398503	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr15:89398503C>A	ENST00000561243.1	+	11	2687	c.2687C>A	c.(2686-2688)tCt>tAt	p.S896Y	ACAN_ENST00000559004.1_Missense_Mutation_p.S896Y|ACAN_ENST00000352105.7_Missense_Mutation_p.S896Y|ACAN_ENST00000439576.2_Missense_Mutation_p.S896Y			P16112	PGCA_HUMAN	aggrecan	895	CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGACTGCCCTCTGGAGACCTG	0.577																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(2686-2688)tCt>tAt		aggrecan							52.0	59.0	57.0					15																	89398503		2018	4175	6193	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398503C>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2687C>A	15.37:g.89398503C>A	ENSP00000453342:p.Ser896Tyr					ACAN_ENST00000352105.7_Missense_Mutation_p.S896Y|ACAN_ENST00000559004.1_Missense_Mutation_p.S896Y|ACAN_ENST00000561243.1_Missense_Mutation_p.S896Y	p.S896Y	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	3061	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		896					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.2687C>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373550	0.61624	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;T	0.94828	-3.53;3.16	5.24	4.31	0.51392	.	0.000000	0.31697	N	0.007209	D	0.96256	0.8779	M	0.75264	2.295	0.34969	D	0.75291	D;D	0.71674	0.998;0.998	D;D	0.85130	0.99;0.997	D	0.97582	1.0111	10	0.72032	D	0.01	-12.9817	8.8074	0.34945	0.0:0.7687:0.1487:0.0826	.	896;896	E7ENV9;E7EX88	.;.	Y	896	ENSP00000387356:S896Y;ENSP00000341615:S896Y	ENSP00000268134:S896Y	S	+	2	0	ACAN	87199507	0.993000	0.37304	0.999000	0.59377	0.939000	0.58152	3.018000	0.49625	2.446000	0.82766	0.561000	0.74099	TCT		0.577	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		19	35	1	0	3.51602e-12	1	3.85317e-12	19	35				
GSDMC	56169	broad.mit.edu	37	8	130789733	130789733	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:130789733C>T	ENST00000276708.4	-	2	982	c.101G>A	c.(100-102)cGt>cAt	p.R34H		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	34						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)		p.R34H(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AACAAACTGACGTAATTTGGT	0.403																																						ENST00000276708.4																			1	Substitution - Missense(1)	p.R34H(1)	lung(1)	autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(100-102)cGt>cAt		gasdermin C							170.0	158.0	162.0					8																	130789733		2203	4300	6503	SO:0001583	missense	56169					mitochondrion		g.chr8:130789733C>T	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.101G>A	8.37:g.130789733C>T	ENSP00000276708:p.Arg34His						p.R34H	NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN			2	982	-			34					Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	c.101G>A	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	C	5.354	0.250558	0.10130	.	.	ENSG00000147697	ENST00000276708	T	0.26067	1.76	4.01	-0.265	0.12946	.	0.838261	0.10237	N	0.698925	T	0.17023	0.0409	L	0.33485	1.01	0.09310	N	1	B	0.27140	0.169	B	0.23852	0.049	T	0.23691	-1.0181	10	0.42905	T	0.14	.	6.5764	0.22569	0.0:0.4793:0.0:0.5207	.	34	Q9BYG8	GSDMC_HUMAN	H	34	ENSP00000276708:R34H	ENSP00000276708:R34H	R	-	2	0	GSDMC	130858915	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.821000	0.04452	-0.132000	0.11557	-0.339000	0.08088	CGT		0.403	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			42	53	0	0	0	1	0	42	53				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	A	rs28934578		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:7578406C>A	ENST00000269305.4	-	5	713	c.524G>T	c.(523-525)cGc>cTc	p.R175L	TP53_ENST00000455263.2_Missense_Mutation_p.R175L|TP53_ENST00000420246.2_Missense_Mutation_p.R175L|TP53_ENST00000359597.4_Missense_Mutation_p.R175L|TP53_ENST00000445888.2_Missense_Mutation_p.R175L|TP53_ENST00000413465.2_Missense_Mutation_p.R175L|TP53_ENST00000574684.1_5'UTR	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(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	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cTc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	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.chr17:7578406C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>T	17.37:g.7578406C>A	ENSP00000269305:p.Arg175Leu	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_ENST00000445888.2_Missense_Mutation_p.R175L|TP53_ENST00000269305.4_Missense_Mutation_p.R175L|TP53_ENST00000455263.2_Missense_Mutation_p.R175L|TP53_ENST00000413465.2_Missense_Mutation_p.R175L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175L	p.R175L	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)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	35	5.433431	0.96150	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99888	-7.54;-7.54;-7.54;-7.54;-7.54;-7.54;-7.54;-7.54	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	D	1	D;D;D;D;D;P;D	0.89917	1.0;0.985;1.0;1.0;0.988;0.894;1.0	D;D;D;D;D;P;D	0.97110	1.0;0.921;0.999;0.999;0.923;0.847;0.999	D	0.96278	0.9204	10	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	.	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175L;ENSP00000352610:R175L;ENSP00000269305:R175L;ENSP00000398846:R175L;ENSP00000391127:R175L;ENSP00000391478:R175L;ENSP00000425104:R43L;ENSP00000423862:R82L	ENSP00000269305:R175L	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		3	58	1	0	2.56e-06	1	2.62564e-06	3	58				
MRPS21	54460	broad.mit.edu	37	1	150266802	150266802	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:150266802A>C	ENST00000369084.5	+	1	463	c.16A>C	c.(16-18)Aag>Cag	p.K6Q	MRPS21_ENST00000309092.7_Missense_Mutation_p.K6Q	NM_018997.3	NP_061870.1	P82921	RT21_HUMAN	mitochondrial ribosomal protein S21	6					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	4	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAACATCTGAAGTTCATCGC	0.463																																						ENST00000369084.5																			0				kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(16-18)Aag>Cag		mitochondrial ribosomal protein S21							103.0	92.0	96.0					1																	150266802		2203	4300	6503	SO:0001583	missense	54460				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr1:150266802A>C	AB051353	CCDS950.1	1q21	2012-09-13			ENSG00000187145			"""Mitochondrial ribosomal proteins / small subunits"""	14046	protein-coding gene	gene with protein product		611984					Standard	NM_031901		Approved		uc001euk.3	P82921	OTTHUMG00000012544	ENST00000369084.5:c.16A>C	1.37:g.150266802A>C	ENSP00000358080:p.Lys6Gln					MRPS21_ENST00000309092.7_Missense_Mutation_p.K6Q	p.K6Q			P82921	RT21_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	463	+	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		6					Q5TB11|Q9BST6	Missense_Mutation	SNP	ENST00000369084.5	37	c.16A>C	CCDS950.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.135744	0.77662	.	.	ENSG00000187145	ENST00000309092;ENST00000369084	T;T	0.32515	1.45;1.45	5.41	5.41	0.78517	.	.	.	.	.	T	0.14356	0.0347	.	.	.	0.30141	N	0.80388	P	0.47302	0.893	B	0.43123	0.409	T	0.05273	-1.0895	8	0.27082	T	0.32	.	13.0673	0.59041	1.0:0.0:0.0:0.0	.	6	P82921	RT21_HUMAN	Q	6	ENSP00000312395:K6Q;ENSP00000358080:K6Q	ENSP00000312395:K6Q	K	+	1	0	MRPS21	148533426	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.627000	0.46469	2.281000	0.76405	0.533000	0.62120	AAG		0.463	MRPS21-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035813.1	NM_018997		19	32	0	0	0	1	0	19	32				
LRRC16A	55604	broad.mit.edu	37	6	25600786	25600786	+	Missense_Mutation	SNP	C	C	T	rs568931456		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr6:25600786C>T	ENST00000329474.6	+	33	3732	c.3364C>T	c.(3364-3366)Cgg>Tgg	p.R1122W		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1122					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAATTCTGAACGGATAGAGGA	0.532																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(3364-3366)Cgg>Tgg		leucine rich repeat containing 16A							60.0	62.0	61.0					6																	25600786		1966	4147	6113	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25600786C>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3364C>T	6.37:g.25600786C>T	ENSP00000331983:p.Arg1122Trp						p.R1122W	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			33	3732	+			1122					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.3364C>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016700	0.54468	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.18960	2.18	4.69	3.82	0.43975	.	0.542019	0.17765	N	0.162762	T	0.16685	0.0401	M	0.65975	2.015	0.80722	D	1	D;D;D	0.60160	0.978;0.987;0.984	P;P;P	0.49301	0.591;0.591;0.606	T	0.02713	-1.1120	10	0.54805	T	0.06	-7.0461	6.9885	0.24741	0.2918:0.6268:0.0:0.0814	.	1122;1122;1122	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	W	1122	ENSP00000331983:R1122W	ENSP00000331983:R1122W	R	+	1	2	LRRC16A	25708765	0.888000	0.30383	0.121000	0.21740	0.960000	0.62799	1.851000	0.39338	1.181000	0.42912	0.462000	0.41574	CGG		0.532	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		15	33	0	0	0	1	0	15	33				
SHANK2	22941	broad.mit.edu	37	11	70331643	70331643	+	Silent	SNP	C	C	T	rs144792130		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr11:70331643C>T	ENST00000423696.2	-	15	3654	c.3618G>A	c.(3616-3618)ccG>ccA	p.P1206P	SHANK2_ENST00000409161.1_Silent_p.P989P|SHANK2_ENST00000338508.4_Silent_p.P1586P|SHANK2_ENST00000449833.2_Silent_p.P990P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1206					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CACTgcccggcgggggcgggg	0.582																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(4756-4758)ccG>ccA		SH3 and multiple ankyrin repeat domains 2							33.0	42.0	39.0					11																	70331643		2199	4284	6483	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70331643C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3618G>A	11.37:g.70331643C>T						SHANK2_ENST00000423696.2_Silent_p.P1206P|SHANK2_ENST00000449833.2_Silent_p.P990P|SHANK2_ENST00000409161.1_Silent_p.P989P	p.P1586P			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	4757	-			1206					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.4758G>A																																																																																					0.582	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		51	45	0	0	0	1	0	51	45				
HK2	3099	broad.mit.edu	37	2	75113620	75113620	+	Missense_Mutation	SNP	C	C	T	rs138539339		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr2:75113620C>T	ENST00000290573.2	+	15	2639	c.2039C>T	c.(2038-2040)aCg>aTg	p.T680M	HK2_ENST00000409174.1_Missense_Mutation_p.T652M	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	680	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTGGCAGGCACGGGCAGCAAT	0.597																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(2038-2040)aCg>aTg		hexokinase 2		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	105.0	96.0	99.0		2039	5.5	1.0	2	dbSNP_134	99	0,8600		0,0,4300	no	missense	HK2	NM_000189.4	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	680/918	75113620	1,13005	2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75113620C>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2039C>T	2.37:g.75113620C>T	ENSP00000290573:p.Thr680Met					HK2_ENST00000409174.1_Missense_Mutation_p.T652M	p.T680M	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			15	2639	+			680			Catalytic.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.2039C>T	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835607	0.91117	2.27E-4	0.0	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.99353	-5.77;-5.77	5.49	5.49	0.81192	Hexokinase, C-terminal (1);	0.041372	0.85682	D	0.000000	D	0.99606	0.9857	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97988	1.0353	10	0.87932	D	0	-27.8178	16.9239	0.86170	0.0:1.0:0.0:0.0	.	680	P52789	HXK2_HUMAN	M	680;680;652	ENSP00000290573:T680M;ENSP00000387140:T652M	ENSP00000290573:T680M	T	+	2	0	HK2	74967128	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.596000	0.82721	2.865000	0.98341	0.655000	0.94253	ACG		0.597	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		17	40	0	0	0	1	0	17	40				
APLP2	334	broad.mit.edu	37	11	129996638	129996638	+	Silent	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr11:129996638C>T	ENST00000263574.5	+	8	1206	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	APLP2_ENST00000528499.1_Silent_p.F322F|APLP2_ENST00000278756.7_Silent_p.F388F|APLP2_ENST00000543137.1_Silent_p.F285F|APLP2_ENST00000338167.5_Silent_p.F378F|APLP2_ENST00000539648.1_Silent_p.F166F|APLP2_ENST00000345598.5_Silent_p.F149F	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	378					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		ATGTGTATTTCGAGACCTCTG	0.483																																						ENST00000263574.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1132-1134)ttC>ttT		amyloid beta (A4) precursor-like protein 2							195.0	182.0	187.0					11																	129996638		2201	4297	6498	SO:0001819	synonymous_variant	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129996638C>T	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1134C>T	11.37:g.129996638C>T						APLP2_ENST00000543137.1_Silent_p.F285F|APLP2_ENST00000539648.1_Silent_p.F166F|APLP2_ENST00000278756.7_Silent_p.F388F|APLP2_ENST00000528499.1_Silent_p.F322F|APLP2_ENST00000345598.5_Silent_p.F149F|APLP2_ENST00000338167.5_Silent_p.F378F	p.F378F	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	8	1206	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	378					B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	ENST00000263574.5	37	c.1134C>T	CCDS8486.1																																																																																				0.483	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		10	173	0	0	0	1	0	10	173				
TMEM132C	92293	broad.mit.edu	37	12	128899817	128899817	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr12:128899817C>T	ENST00000435159.2	+	2	626	c.626C>T	c.(625-627)aCg>aTg	p.T209M		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	209						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						AGTGCCCCGACGGTGGGTGCC	0.667																																						ENST00000435159.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						c.(625-627)aCg>aTg		transmembrane protein 132C							20.0	26.0	24.0					12																	128899817		692	1591	2283	SO:0001583	missense	92293					integral to membrane		g.chr12:128899817C>T	AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.626C>T	12.37:g.128899817C>T	ENSP00000410852:p.Thr209Met						p.T209M	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN			2	626	+			209					Q69YX8	Missense_Mutation	SNP	ENST00000435159.2	37	c.626C>T		.	.	.	.	.	.	.	.	.	.	C	9.859	1.195659	0.22037	.	.	ENSG00000181234	ENST00000435159	T	0.13089	2.62	5.09	2.29	0.28610	.	.	.	.	.	T	0.13243	0.0321	M	0.61703	1.905	0.09310	N	1	P	0.43973	0.823	B	0.33042	0.157	T	0.08994	-1.0695	9	0.52906	T	0.07	.	10.5657	0.45171	0.0:0.7886:0.0:0.2114	.	209	Q8N3T6	T132C_HUMAN	M	209	ENSP00000410852:T209M	ENSP00000410852:T209M	T	+	2	0	TMEM132C	127465770	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.032000	0.13732	0.270000	0.21984	-0.136000	0.14681	ACG		0.667	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_044062		3	11	0	0	0	1	0	3	11				
ABCC11	85320	broad.mit.edu	37	16	48201459	48201459	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr16:48201459C>T	ENST00000394747.1	-	28	4353	c.4004G>A	c.(4003-4005)cGt>cAt	p.R1335H	ABCC11_ENST00000565329.1_5'UTR|RP11-3M1.1_ENST00000563906.1_RNA|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1335H|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1297H|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1335H	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1335	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AGTGGTGACACGGTGGGCAAT	0.592																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(4003-4005)cGt>cAt		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							170.0	129.0	143.0					16																	48201459		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48201459C>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.4004G>A	16.37:g.48201459C>T	ENSP00000378230:p.Arg1335His					ABCC11_ENST00000353782.5_Missense_Mutation_p.R1297H|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1335H|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1335H|ABCC11_ENST00000565329.1_5'UTR	p.R1335H	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			28	4353	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1335			ABC transporter 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.4004G>A	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152923	0.57259	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	5.27	4.32	0.51571	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.92672	0.7671	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.93269	0.6650	10	0.87932	D	0	-16.8758	11.5457	0.50693	0.0:0.9131:0.0:0.0869	.	1297;1335	Q96J66-2;Q96J66	.;ABCCB_HUMAN	H	1297;1335;1335;1335	ENSP00000311326:R1297H;ENSP00000349017:R1335H;ENSP00000378231:R1335H;ENSP00000378230:R1335H	ENSP00000311326:R1297H	R	-	2	0	ABCC11	46758960	1.000000	0.71417	0.107000	0.21349	0.031000	0.12232	4.484000	0.60271	1.231000	0.43661	0.643000	0.83706	CGT		0.592	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		22	38	0	0	0	1	0	22	38				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		3	23	0	0	0	1	0	3	23				
ATAD2B	54454	broad.mit.edu	37	2	23974944	23974944	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr2:23974944G>T	ENST00000238789.5	-	28	4692	c.4349C>A	c.(4348-4350)aCa>aAa	p.T1450K	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1450						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATATGAACTGTTCTTTCCAT	0.348																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(4348-4350)aCa>aAa		ATPase family, AAA domain containing 2B							50.0	51.0	51.0					2																	23974944		1819	4068	5887	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:23974944G>T	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.4349C>A	2.37:g.23974944G>T	ENSP00000238789:p.Thr1450Lys					ATAD2B_ENST00000474583.1_5'UTR	p.T1450K	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN			28	4692	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1450					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.4349C>A	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.751|5.751	0.322912|0.322912	0.10900|0.10900	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000381024|ENST00000238789;ENST00000546030	.|D	.|0.91521	.|-2.86	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	D|D	0.91442|0.91442	0.7299|0.7299	L|L	0.50333|0.50333	1.59|1.59	0.44309|0.44309	D|D	0.997188|0.997188	.|P;P	.|0.50156	.|0.649;0.932	.|B;P	.|0.50659	.|0.219;0.647	D|D	0.89382|0.89382	0.3682|0.3682	5|10	.|0.30078	.|T	.|0.28	.|.	19.751|19.751	0.96268|0.96268	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1450;1445	.|Q9ULI0;Q9ULI0-2	.|ATD2B_HUMAN;.	K|K	726|1450;618	.|ENSP00000238789:T1450K	.|ENSP00000238789:T1450K	Q|T	-|-	1|2	0|0	ATAD2B|ATAD2B	23828448|23828448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.401000|4.401000	0.59716|0.59716	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	CAG|ACA		0.348	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		2	1	1	0	1	1	1	2	1				
TBX21	30009	broad.mit.edu	37	17	45821893	45821893	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:45821893C>T	ENST00000177694.1	+	5	1184	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	325					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAAAGGATTCCGGGAGAACTT	0.512																																						ENST00000177694.1																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(973-975)Cgg>Tgg		T-box 21							77.0	85.0	82.0					17																	45821893		2203	4300	6503	SO:0001583	missense	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45821893C>T	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.973C>T	17.37:g.45821893C>T	ENSP00000177694:p.Arg325Trp						p.R325W	NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN			5	1184	+			325						Missense_Mutation	SNP	ENST00000177694.1	37	c.973C>T	CCDS11514.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879681	0.72294	.	.	ENSG00000073861	ENST00000177694	D	0.91068	-2.78	5.31	4.25	0.50352	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96996	0.9019	H	0.98133	4.155	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97847	1.0272	10	0.87932	D	0	.	13.9388	0.64041	0.2288:0.7712:0.0:0.0	.	325	Q9UL17	TBX21_HUMAN	W	325	ENSP00000177694:R325W	ENSP00000177694:R325W	R	+	1	2	TBX21	43176892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.944000	0.29043	2.469000	0.83416	0.563000	0.77884	CGG		0.512	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		30	64	0	0	0	1	0	30	64				
SPATA6	54558	broad.mit.edu	37	1	48764545	48764545	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:48764545C>G	ENST00000371847.3	-	13	1471	c.1307G>C	c.(1306-1308)gGc>gCc	p.G436A	SPATA6_ENST00000371843.3_Missense_Mutation_p.G420A|SPATA6_ENST00000396199.3_Missense_Mutation_p.G364A	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	436					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATGGAAAGTGCCACGTGGCTG	0.388																																						ENST00000371847.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1306-1308)gGc>gCc		spermatogenesis associated 6							108.0	109.0	108.0					1																	48764545		2203	4300	6503	SO:0001583	missense	54558				cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		g.chr1:48764545C>G	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.1307G>C	1.37:g.48764545C>G	ENSP00000360913:p.Gly436Ala					SPATA6_ENST00000371843.3_Missense_Mutation_p.G420A|SPATA6_ENST00000396199.3_Missense_Mutation_p.G364A	p.G436A	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN			13	1471	-			436					Q5T3N7|Q8WUE6	Missense_Mutation	SNP	ENST00000371847.3	37	c.1307G>C	CCDS551.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.822640	0.00589	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199	T;T;T	0.10288	2.95;2.89;2.94	4.82	3.87	0.44632	.	0.632926	0.15214	N	0.274324	T	0.04907	0.0132	N	0.03608	-0.345	0.27966	N	0.936604	B;P;P	0.49961	0.023;0.93;0.93	B;B;B	0.41988	0.022;0.372;0.372	T	0.25502	-1.0130	10	0.23891	T	0.37	.	10.1455	0.42760	0.0:0.7797:0.2203:0.0	.	364;420;436	B4DX17;Q9NWH7-2;Q9NWH7	.;.;SPAT6_HUMAN	A	436;420;364	ENSP00000360913:G436A;ENSP00000360909:G420A;ENSP00000379502:G364A	ENSP00000360909:G420A	G	-	2	0	SPATA6	48537132	0.615000	0.27026	0.978000	0.43139	0.029000	0.11900	1.433000	0.34947	2.505000	0.84491	0.563000	0.77884	GGC		0.388	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073		32	71	0	0	0	1	0	32	71				
PTPN22	26191	broad.mit.edu	37	1	114380493	114380493	+	Missense_Mutation	SNP	C	C	T	rs202143877		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:114380493C>T	ENST00000359785.5	-	13	1664	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H	PTPN22_ENST00000525799.1_Missense_Mutation_p.R383H|PTPN22_ENST00000528414.1_Missense_Mutation_p.R455H|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Missense_Mutation_p.R266H|PTPN22_ENST00000420377.2_Missense_Mutation_p.R510H	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	510					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGGCATTACGTATTTGGTG	0.368																																						ENST00000359785.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1528-1530)cGt>cAt		protein tyrosine phosphatase, non-receptor type 22 (lymphoid)							136.0	131.0	133.0					1																	114380493		2203	4300	6503	SO:0001583	missense	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114380493C>T	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1529G>A	1.37:g.114380493C>T	ENSP00000352833:p.Arg510His					PTPN22_ENST00000420377.2_Missense_Mutation_p.R510H|PTPN22_ENST00000538253.1_Missense_Mutation_p.R266H|PTPN22_ENST00000528414.1_Missense_Mutation_p.R455H|PTPN22_ENST00000525799.1_Missense_Mutation_p.R383H|PTPN22_ENST00000460620.1_Intron	p.R510H	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	1664	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	510					A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.1529G>A	CCDS863.1	.	.	.	.	.	.	.	.	.	.	C	5.450	0.268197	0.10349	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.73	-0.23	0.13090	.	1.045070	0.07426	N	0.894839	T	0.19208	0.0461	L	0.36672	1.1	0.09310	N	1	P;P;P;B;P;P	0.52170	0.799;0.951;0.76;0.0;0.845;0.467	B;B;B;B;B;B	0.38106	0.143;0.197;0.086;0.0;0.265;0.086	T	0.05435	-1.0885	10	0.14656	T	0.56	.	0.9381	0.01349	0.2831:0.2682:0.2756:0.1731	.	266;383;510;455;510;510	F5H2S8;E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	H	510;455;266;510;383;510	ENSP00000352833:R510H;ENSP00000435176:R455H;ENSP00000439372:R266H;ENSP00000388229:R510H;ENSP00000432674:R383H	ENSP00000346621:R510H	R	-	2	0	PTPN22	114182016	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.742000	0.04850	0.305000	0.22832	0.655000	0.94253	CGT		0.368	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		34	59	0	0	0	1	0	34	59				
ACTL9	284382	broad.mit.edu	37	19	8808926	8808926	+	Silent	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:8808926G>A	ENST00000324436.3	-	1	246	c.126C>T	c.(124-126)gcC>gcT	p.A42A		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	42			A -> D (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GCAGCCTGTCGGCCACCATGC	0.657																																						ENST00000324436.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(124-126)gcC>gcT		actin-like 9							37.0	47.0	43.0					19																	8808926		2198	4296	6494	SO:0001819	synonymous_variant	284382					cytoplasm|cytoskeleton		g.chr19:8808926G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.126C>T	19.37:g.8808926G>A							p.A42A	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	246	-			42		A -> D (in a colorectal cancer sample; somatic mutation).			A8K893|Q6X960	Silent	SNP	ENST00000324436.3	37	c.126C>T	CCDS12207.1																																																																																				0.657	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		29	71	0	0	0	1	0	29	71				
FAT2	2196	broad.mit.edu	37	5	150901599	150901599	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr5:150901599C>G	ENST00000261800.5	-	18	10567	c.10555G>C	c.(10555-10557)Gtc>Ctc	p.V3519L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3519	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGACATGGACACGGACAGAC	0.547																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(10555-10557)Gtc>Ctc		FAT atypical cadherin 2							57.0	50.0	52.0					5																	150901599		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150901599C>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10555G>C	5.37:g.150901599C>G	ENSP00000261800:p.Val3519Leu						p.V3519L	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	10567	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3519			Cadherin 31.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.10555G>C	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.044|6.044	0.376409|0.376409	0.11466|0.11466	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000520200|ENST00000261800	.|T	.|0.61040	.|0.14	5.14|5.14	-1.08|-1.08	0.09936|0.09936	.|Cadherin (4);Cadherin-like (1);	.|0.573116	.|0.16022	.|N	.|0.233268	T|T	0.48960|0.48960	0.1529|0.1529	L|L	0.50333|0.50333	1.59|1.59	0.22317|0.22317	N|N	0.999207|0.999207	.|B;B	.|0.21452	.|0.056;0.036	.|B;B	.|0.27170	.|0.077;0.037	T|T	0.46470|0.46470	-0.9189|-0.9189	5|10	.|0.44086	.|T	.|0.13	.|.	10.6982|10.6982	0.45911|0.45911	0.0:0.3849:0.0:0.6151|0.0:0.3849:0.0:0.6151	.|.	.|3519;710	.|Q9NYQ8;E9PDJ8	.|FAT2_HUMAN;.	S|L	377|3519	.|ENSP00000261800:V3519L	.|ENSP00000261800:V3519L	C|V	-|-	2|1	0|0	FAT2|FAT2	150881792|150881792	0.030000|0.030000	0.19436|0.19436	0.002000|0.002000	0.10522|0.10522	0.006000|0.006000	0.05464|0.05464	0.314000|0.314000	0.19432|0.19432	-0.205000|-0.205000	0.10219|0.10219	-0.244000|-0.244000	0.11960|0.11960	TGT|GTC		0.547	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		11	16	0	0	0	1	0	11	16				
MLLT10	8028	broad.mit.edu	37	10	22022944	22022944	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr10:22022944C>T	ENST00000307729.7	+	20	2922	c.2744C>T	c.(2743-2745)gCt>gTt	p.A915V	MLLT10_ENST00000377059.3_Missense_Mutation_p.A915V|MLLT10_ENST00000377072.3_Missense_Mutation_p.A931V|MLLT10_ENST00000446906.2_Missense_Mutation_p.A915V			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	915					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ATTGTAGGAGCTTTAAATGGG	0.498			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		0				NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(2791-2793)gCt>gTt		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							108.0	94.0	99.0					10																	22022944		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22022944C>T	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2744C>T	10.37:g.22022944C>T	ENSP00000307411:p.Ala915Val					MLLT10_ENST00000446906.2_Missense_Mutation_p.A915V|MLLT10_ENST00000377059.3_Missense_Mutation_p.A915V|MLLT10_ENST00000307729.7_Missense_Mutation_p.A915V	p.A931V	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			21	3140	+			931					B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.2792C>T	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373146	0.82573	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.19938	2.11;2.12;2.13;2.12	4.7	4.7	0.59300	.	0.055071	0.64402	D	0.000001	T	0.45216	0.1331	M	0.61703	1.905	0.54753	D	0.999984	D;D;D;D	0.71674	0.998;0.997;0.978;0.997	D;D;P;D	0.80764	0.994;0.985;0.554;0.985	T	0.45264	-0.9273	10	0.62326	D	0.03	.	17.6338	0.88116	0.0:1.0:0.0:0.0	.	610;915;915;931	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	V	931;915;915;750;915	ENSP00000366272:A931V;ENSP00000401406:A915V;ENSP00000307411:A915V;ENSP00000366258:A915V	ENSP00000307411:A915V	A	+	2	0	MLLT10	22062950	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.754000	0.62191	2.158000	0.67659	0.557000	0.71058	GCT		0.498	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			19	15	0	0	0	1	0	19	15				
ZNF526	116115	broad.mit.edu	37	19	42730132	42730132	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:42730132G>A	ENST00000301215.3	+	3	1802	c.1577G>A	c.(1576-1578)cGt>cAt	p.R526H		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	526					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				ACGGGTGCACGTCCCTACCAA	0.627																																						ENST00000301215.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22						c.(1576-1578)cGt>cAt		zinc finger protein 526							71.0	66.0	68.0					19																	42730132		2203	4300	6503	SO:0001583	missense	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42730132G>A	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1577G>A	19.37:g.42730132G>A	ENSP00000301215:p.Arg526His						p.R526H	NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN			3	1802	+		Prostate(69;0.0704)	526					B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	c.1577G>A	CCDS12598.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765976	0.49574	.	.	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.20332	2.08	4.76	4.76	0.60689	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000004	T	0.48714	0.1515	M	0.86805	2.84	0.21290	N	0.999739	D	0.89917	1.0	D	0.79784	0.993	T	0.46261	-0.9204	10	0.87932	D	0	-16.2926	10.6418	0.45596	0.0895:0.0:0.9105:0.0	.	526	Q8TF50	ZN526_HUMAN	H	382;526	ENSP00000301215:R526H	ENSP00000301215:R526H	R	+	2	0	ZNF526	47421972	0.923000	0.31300	0.365000	0.25901	0.427000	0.31564	4.128000	0.57951	2.644000	0.89710	0.561000	0.74099	CGT		0.627	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		14	36	0	0	0	1	0	14	36				
GAB2	9846	broad.mit.edu	37	11	77961363	77961363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr11:77961363G>A	ENST00000361507.4	-	3	545	c.460C>T	c.(460-462)Cga>Tga	p.R154*	GAB2_ENST00000526030.1_Intron|GAB2_ENST00000340149.2_Nonsense_Mutation_p.R116*	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	154					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TTGCGCTCTCGGAGAAGGTGC	0.567																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(460-462)Cga>Tga		GRB2-associated binding protein 2							120.0	120.0	120.0					11																	77961363		2200	4292	6492	SO:0001587	stop_gained	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77961363G>A	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.460C>T	11.37:g.77961363G>A	ENSP00000354952:p.Arg154*					GAB2_ENST00000526030.1_Intron|GAB2_ENST00000340149.2_Nonsense_Mutation_p.R116*	p.R154*	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		3	545	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		154					A2RRM2|A6NEW9|A7MD36|O60317	Nonsense_Mutation	SNP	ENST00000361507.4	37	c.460C>T	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725629	0.30593	.	.	ENSG00000033327	ENST00000340149;ENST00000361507;ENST00000528886	.	.	.	5.46	2.55	0.30701	.	0.619999	0.15120	U	0.279457	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-6.8725	8.4405	0.32812	0.0678:0.0:0.5365:0.3957	.	.	.	.	X	116;154;116	.	ENSP00000343959:R116X	R	-	1	2	GAB2	77639011	1.000000	0.71417	0.999000	0.59377	0.062000	0.15995	2.147000	0.42226	0.407000	0.25591	-0.136000	0.14681	CGA		0.567	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		31	50	0	0	0	1	0	31	50				
MC3R	4159	broad.mit.edu	37	20	54824345	54824345	+	Missense_Mutation	SNP	C	C	T	rs552943206		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr20:54824345C>T	ENST00000243911.2	+	1	558	c.446C>T	c.(445-447)gCg>gTg	p.A149V		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	149					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			ATCTTTTACGCGCTCCGCTAC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		22548	0.0		0.0	False		,,,				2504	0.001					ENST00000243911.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(445-447)gCg>gTg		melanocortin 3 receptor							190.0	167.0	175.0					20																	54824345		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824345C>T		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.446C>T	20.37:g.54824345C>T	ENSP00000243911:p.Ala149Val						p.A149V	NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	558	+			186					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.446C>T	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	33	5.196946	0.94960	.	.	ENSG00000124089	ENST00000243911	T	0.00557	6.62	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.03136	0.0092	M	0.86502	2.82	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.37502	-0.9703	10	0.87932	D	0	.	18.3858	0.90466	0.0:1.0:0.0:0.0	.	186	P41968	MC3R_HUMAN	V	149	ENSP00000243911:A149V	ENSP00000243911:A149V	A	+	2	0	MC3R	54257752	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.624000	0.83124	2.423000	0.82170	0.650000	0.86243	GCG		0.582	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			43	102	0	0	0	1	0	43	102				
MYH8	4626	broad.mit.edu	37	17	10312737	10312737	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:10312737C>A	ENST00000403437.2	-	16	1850	c.1756G>T	c.(1756-1758)Gct>Tct	p.A586S	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	586	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACAGTGCCAGCATAGTGAATC	0.512									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(1756-1758)Gct>Tct		myosin, heavy chain 8, skeletal muscle, perinatal							129.0	125.0	127.0					17																	10312737		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10312737C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1756G>T	17.37:g.10312737C>A	ENSP00000384330:p.Ala586Ser					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.A586S	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			16	1850	-			586			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.1756G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.850992	0.91277	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.92647	-3.08	5.23	5.23	0.72850	Myosin head, motor domain (2);	0.000000	0.41396	U	0.000884	D	0.97402	0.9150	H	0.95982	3.75	0.80722	D	1	B	0.23316	0.083	P	0.48952	0.596	D	0.96679	0.9502	10	0.87932	D	0	.	18.9924	0.92798	0.0:1.0:0.0:0.0	.	586	P13535	MYH8_HUMAN	S	586	ENSP00000384330:A586S	ENSP00000252173:A586S	A	-	1	0	MYH8	10253462	1.000000	0.71417	0.275000	0.24674	0.969000	0.65631	7.609000	0.82925	2.736000	0.93811	0.655000	0.94253	GCT		0.512	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		32	82	1	0	3.11337e-16	1	3.55814e-16	32	82				
PFKFB2	5208	broad.mit.edu	37	1	207245685	207245685	+	Missense_Mutation	SNP	G	G	C	rs538599971		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:207245685G>C	ENST00000367080.3	+	15	1611	c.1487G>C	c.(1486-1488)cGt>cCt	p.R496P	PFKFB2_ENST00000367079.2_Intron|PFKFB2_ENST00000411990.2_Intron|PFKFB2_ENST00000541914.1_Intron|PFKFB2_ENST00000473310.1_Intron|PFKFB2_ENST00000545806.1_Missense_Mutation_p.R463P	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	496	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					AGCCCTCTCCGTGCCCAGGAC	0.572																																						ENST00000367080.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1486-1488)cGt>cCt		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2							53.0	59.0	57.0					1																	207245685		2203	4300	6503	SO:0001583	missense	5208				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr1:207245685G>C		CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.1487G>C	1.37:g.207245685G>C	ENSP00000356047:p.Arg496Pro					PFKFB2_ENST00000545806.1_Missense_Mutation_p.R463P|PFKFB2_ENST00000411990.2_Intron|PFKFB2_ENST00000367079.2_Intron|PFKFB2_ENST00000473310.1_Intron|PFKFB2_ENST00000541914.1_Intron	p.R496P	NM_006212.2	NP_006203.2	O60825	F262_HUMAN			15	1611	+	Prostate(682;0.19)		496			Fructose-2,6-bisphosphatase.		O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Missense_Mutation	SNP	ENST00000367080.3	37	c.1487G>C	CCDS31004.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331587	0.41297	.	.	ENSG00000123836	ENST00000367080;ENST00000545806	.	.	.	5.46	3.58	0.41010	.	0.158360	0.56097	N	0.000037	T	0.40743	0.1129	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.18209	-1.0344	9	0.40728	T	0.16	.	9.4927	0.38969	0.1534:0.0:0.8466:0.0	.	496	O60825	F262_HUMAN	P	496;463	.	ENSP00000356047:R496P	R	+	2	0	PFKFB2	205312308	0.998000	0.40836	1.000000	0.80357	0.978000	0.69477	0.777000	0.26718	0.788000	0.33755	0.650000	0.86243	CGT		0.572	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1			3	55	0	0	0	1	0	3	55				
OR2T12	127064	broad.mit.edu	37	1	248458221	248458221	+	Silent	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:248458221G>A	ENST00000317996.1	-	1	659	c.660C>T	c.(658-660)ctC>ctT	p.L220L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GAACAGCAGCGAGGATGAGAC	0.532																																						ENST00000317996.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(658-660)ctC>ctT		olfactory receptor, family 2, subfamily T, member 12							119.0	103.0	108.0					1																	248458221		2203	4298	6501	SO:0001819	synonymous_variant	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458221G>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.660C>T	1.37:g.248458221G>A							p.L220L	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	659	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		220						Silent	SNP	ENST00000317996.1	37	c.660C>T	CCDS31110.1																																																																																				0.532	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		37	61	0	0	0	1	0	37	61				
ERCC6	2074	broad.mit.edu	37	10	50669556	50669556	+	Silent	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr10:50669556G>A	ENST00000355832.5	-	19	3903	c.3825C>T	c.(3823-3825)gcC>gcT	p.A1275A	ERCC6_ENST00000465653.1_5'UTR|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Silent_p.A645A	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1275					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AATCTGGGCTGGCTCCATCCA	0.512								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3823-3825)gcC>gcT	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							82.0	62.0	69.0					10																	50669556		2203	4300	6503	SO:0001819	synonymous_variant	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50669556G>A	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3825C>T	10.37:g.50669556G>A						RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'UTR|ERCC6_ENST00000542458.1_Silent_p.A645A	p.A1275A	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			19	3903	-			1275					D3DX94|Q5W0L9	Silent	SNP	ENST00000355832.5	37	c.3825C>T	CCDS7229.1																																																																																				0.512	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		10	15	0	0	0	1	0	10	15				
TGFBR3	7049	broad.mit.edu	37	1	92182170	92182170	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:92182170C>T	ENST00000525962.1	-	10	1723	c.1662G>A	c.(1660-1662)atG>atA	p.M554I	TGFBR3_ENST00000370399.2_Missense_Mutation_p.M553I|TGFBR3_ENST00000212355.4_Missense_Mutation_p.M554I			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	554	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CTCCTTCATCCATATCTCCCG	0.463																																						ENST00000212355.4																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1660-1662)atG>atA		transforming growth factor, beta receptor III							262.0	268.0	266.0					1																	92182170		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92182170C>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1662G>A	1.37:g.92182170C>T	ENSP00000436127:p.Met554Ile					TGFBR3_ENST00000525962.1_Missense_Mutation_p.M554I|TGFBR3_ENST00000370399.2_Missense_Mutation_p.M553I	p.M554I	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	11	2127	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	554			ZP.		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.1662G>A	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	9.147	1.015241	0.19355	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.37	-1.54	0.08584	Zona pellucida sperm-binding protein (3);	0.946968	0.08946	N	0.870821	T	0.05593	0.0147	N	0.22421	0.69	0.09310	N	1	B;B;B	0.15473	0.001;0.01;0.013	B;B;B	0.21151	0.009;0.013;0.033	T	0.43180	-0.9407	10	0.18276	T	0.48	0.1827	5.5039	0.16844	0.1837:0.351:0.0:0.4653	.	554;553;554	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	I	554;553;554;553	ENSP00000212355:M554I;ENSP00000359426:M553I;ENSP00000436127:M554I;ENSP00000432638:M553I	ENSP00000212355:M554I	M	-	3	0	TGFBR3	91954758	0.017000	0.18338	0.121000	0.21740	0.863000	0.49368	0.013000	0.13310	-0.000000	0.14550	0.561000	0.74099	ATG		0.463	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		4	212	0	0	0	1	0	4	212				
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:7578534C>G	ENST00000269305.4	-	5	585	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000420246.2_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|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	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(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)	GGCAAAACATCTTGTTGAGGG	0.562		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"""		77	Substitution - Missense(51)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(1)|Substitution - coding silent(1)	p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1)	urinary_tract(13)|breast(10)|ovary(10)|lung(9)|large_intestine(8)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|bone(4)|adrenal_gland(3)|upper_aerodigestive_tract(2)|skin(2)|liver(2)|stomach(1)|penis(1)|oesophagus(1)|pancreas(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						c.(394-396)aaG>aaC	Other conserved DNA damage response genes	tumor protein p53							47.0	48.0	48.0					17																	7578534		2203	4300	6503	SO:0001583	missense	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.chr17:7578534C>G	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.396G>C	17.37:g.7578534C>G	ENSP00000269305:p.Lys132Asn	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_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000269305.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N	p.K132N	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)	5	528	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	132		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.396G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123172	0.77436	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	3.5	0.40072	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	M	0.91768	3.24	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.993;0.996;0.999;0.998;1.0	D	0.97328	0.9948	10	0.87932	D	0	-14.0777	10.5581	0.45129	0.0:0.841:0.0:0.159	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132N;ENSP00000352610:K132N;ENSP00000269305:K132N;ENSP00000398846:K132N;ENSP00000391127:K132N;ENSP00000391478:K132N;ENSP00000423862:K39N;ENSP00000424104:K132N	ENSP00000269305:K132N	K	-	3	2	TP53	7519259	1.000000	0.71417	0.994000	0.49952	0.784000	0.44337	1.646000	0.37249	0.804000	0.34136	0.655000	0.94253	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	17	0	0	0	1	0	12	17				
LENG9	94059	broad.mit.edu	37	19	54974077	54974077	+	Silent	SNP	C	C	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:54974077C>A	ENST00000333834.4	-	1	817	c.699G>T	c.(697-699)ctG>ctT	p.L233L		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	233							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GGGCCGCCTCCAGCTCTCCGG	0.682																																						ENST00000333834.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11						c.(697-699)ctG>ctT		leukocyte receptor cluster (LRC) member 9							25.0	27.0	26.0					19																	54974077		2050	4061	6111	SO:0001819	synonymous_variant	94059				RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding	g.chr19:54974077C>A	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.699G>T	19.37:g.54974077C>A							p.L233L	NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN		GBM - Glioblastoma multiforme(193;0.134)	1	817	-	Ovarian(34;0.19)		233					B2VAM3	Silent	SNP	ENST00000333834.4	37	c.699G>T	CCDS12895.2																																																																																				0.682	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	NM_198988		16	55	1	0	2.35188e-11	1	2.54257e-11	16	55				
NRD1	4898	broad.mit.edu	37	1	52258075	52258075	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:52258075C>G	ENST00000354831.7	-	27	3190	c.3001G>C	c.(3001-3003)Gaa>Caa	p.E1001Q	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Missense_Mutation_p.E869Q|RP4-657D16.3_ENST00000588291.1_RNA|RP4-657D16.3_ENST00000591675.1_RNA|RP4-657D16.3_ENST00000586761.1_RNA|NRD1_ENST00000352171.7_Missense_Mutation_p.E933Q	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	932					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGCGTATATTCTCTTAGACTC	0.473																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(3001-3003)Gaa>Caa		nardilysin (N-arginine dibasic convertase)							92.0	93.0	93.0					1																	52258075		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52258075C>G	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.3001G>C	1.37:g.52258075C>G	ENSP00000346890:p.Glu1001Gln					NRD1_ENST00000539524.1_Missense_Mutation_p.E869Q|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.E933Q	p.E1001Q	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			27	3190	-			932					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.3001G>C	CCDS559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.09|17.09	3.299194|3.299194	0.60195|0.60195	.|.	.|.	ENSG00000078618|ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169|ENST00000440943	T;T;T|T	0.08546|0.07688	3.08;3.08;3.08|3.17	4.99|4.99	4.99|4.99	0.66335|0.66335	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);|.	0.104031|.	0.64402|.	D|.	0.000004|.	T|T	0.20740|0.20740	0.0499|0.0499	L|L	0.60845|0.60845	1.875|1.875	0.80722|0.80722	D|D	1|1	P;B;P|.	0.35944|.	0.507;0.357;0.529|.	B;B;B|.	0.39068|.	0.175;0.179;0.289|.	T|T	0.00496|0.00496	-1.1705|-1.1705	10|7	0.14656|0.29301	T|T	0.56|0.29	-15.2846|-15.2846	18.4881|18.4881	0.90836|0.90836	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	933;932;1001|.	F5H6R2;O43847;B1AKJ5|.	.;NRDC_HUMAN;.|.	Q|T	933;1001;869;363;933|347	ENSP00000262679:E933Q;ENSP00000346890:E1001Q;ENSP00000444416:E869Q|ENSP00000398464:R347T	ENSP00000262679:E933Q|ENSP00000398464:R347T	E|R	-|-	1|2	0|0	NRD1|NRD1	52030663|52030663	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.532000|0.532000	0.34746|0.34746	7.180000|7.180000	0.77674|0.77674	2.604000|2.604000	0.88044|0.88044	0.555000|0.555000	0.69702|0.69702	GAA|AGA		0.473	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		37	60	0	0	0	1	0	37	60				
CDYL2	124359	broad.mit.edu	37	16	80718705	80718705	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr16:80718705G>T	ENST00000570137.2	-	2	501	c.346C>A	c.(346-348)Cca>Aca	p.P116T	CDYL2_ENST00000562812.1_Missense_Mutation_p.P116T|CDYL2_ENST00000563890.1_Missense_Mutation_p.P116T|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Missense_Mutation_p.P116T	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	116						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CCTTTTTTTGGCTTGGCCAGG	0.542																																						ENST00000299564.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(346-348)Cca>Aca		chromodomain protein, Y-like 2							63.0	65.0	64.0					16																	80718705		2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80718705G>T	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.346C>A	16.37:g.80718705G>T	ENSP00000476295:p.Pro116Thr					CDYL2_ENST00000563890.1_Missense_Mutation_p.P116T|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000562812.1_Missense_Mutation_p.P116T|CDYL2_ENST00000566173.1_Missense_Mutation_p.P116T	p.P116T	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN			2	501	-			116					Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.346C>A	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	G	1.715	-0.498005	0.04291	.	.	ENSG00000166446	ENST00000299564	T	0.57273	0.41	5.14	2.07	0.26955	.	0.644144	0.15501	N	0.259020	T	0.26159	0.0638	N	0.08118	0	0.28755	N	0.901214	B	0.12013	0.005	B	0.12156	0.007	T	0.23833	-1.0177	10	0.10377	T	0.69	.	7.4431	0.27196	0.1454:0.0:0.7196:0.1351	.	116	Q8N8U2	CDYL2_HUMAN	T	116	ENSP00000299564:P116T	ENSP00000299564:P116T	P	-	1	0	CDYL2	79276206	1.000000	0.71417	0.914000	0.36105	0.186000	0.23388	2.760000	0.47581	0.315000	0.23110	0.591000	0.81541	CCA		0.542	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		20	39	1	0	3.51602e-12	1	3.85317e-12	20	39				
MCM3AP	8888	broad.mit.edu	37	21	47660915	47660915	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr21:47660915A>G	ENST00000397708.1	-	27	5697	c.5443T>C	c.(5443-5445)Ttt>Ctt	p.F1815L	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.F1815L|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1815					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GAAGGATGAAAAGGCTTTATT	0.403																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5443-5445)Ttt>Ctt		minichromosome maintenance complex component 3 associated protein							160.0	144.0	149.0					21																	47660915		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47660915A>G	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5443T>C	21.37:g.47660915A>G	ENSP00000380820:p.Phe1815Leu					MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.F1815L|MCM3AP-AS1_ENST00000432735.1_RNA	p.F1815L			O60318	MCM3A_HUMAN			27	5697	-	Breast(49;0.112)		1815					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.5443T>C	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	A	6.494	0.459294	0.12342	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03124	4.04;4.04	5.58	-3.65	0.04502	.	1.278370	0.04924	N	0.455502	T	0.02193	0.0068	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.45963	-0.9225	10	0.09843	T	0.71	-0.1349	2.436	0.04483	0.3296:0.1379:0.3975:0.135	.	1815;310	O60318;B3KT88	MCM3A_HUMAN;.	L	1815;1815;310	ENSP00000380820:F1815L;ENSP00000291688:F1815L	ENSP00000291688:F1815L	F	-	1	0	MCM3AP	46485343	0.000000	0.05858	0.000000	0.03702	0.362000	0.29581	-0.102000	0.10956	-0.542000	0.06249	0.528000	0.53228	TTT		0.403	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		5	114	0	0	0	1	0	5	114				
ADAM28	10863	broad.mit.edu	37	8	24197031	24197031	+	Silent	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:24197031G>A	ENST00000265769.4	+	15	1730	c.1620G>A	c.(1618-1620)aaG>aaA	p.K540K	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Silent_p.K287K|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	540	Cys-rich.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GTGGGTCAAAGTACGGGTACT	0.458																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1618-1620)aaG>aaA		ADAM metallopeptidase domain 28							130.0	95.0	107.0					8																	24197031		2203	4300	6503	SO:0001819	synonymous_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24197031G>A	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1620G>A	8.37:g.24197031G>A						RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Silent_p.K287K|RP11-624C23.1_ENST00000523700.1_RNA	p.K540K	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	15	1730	+		Prostate(55;0.0959)	540			Cys-rich.		B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	c.1620G>A	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	G	0.242	-1.012984	0.02095	.	.	ENSG00000042980	ENST00000521629	.	.	.	6.02	4.02	0.46733	.	.	.	.	.	T	0.37679	0.1012	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.20438	-1.0275	4	.	.	.	.	9.7968	0.40740	0.0:0.1199:0.5863:0.2938	.	.	.	.	I	173	.	.	V	+	1	0	ADAM28	24252976	0.952000	0.32445	0.818000	0.32626	0.068000	0.16541	0.798000	0.27014	1.510000	0.48803	0.655000	0.94253	GTA		0.458	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		6	13	0	0	0	1	0	6	13				
CFAP20	29105	broad.mit.edu	37	16	58149206	58149206	+	Silent	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr16:58149206G>A	ENST00000262498.3	-	4	766	c.432C>T	c.(430-432)taC>taT	p.Y144Y	CTB-134F13.1_ENST00000564672.1_RNA|C16orf80_ENST00000562443.1_5'UTR	NM_013242.2	NP_037374.1														kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						AATTGGTGCCGTATGCTCGCC	0.552																																					Pancreas(103;1212 1612 18629 30162 52390)	ENST00000262498.3																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(430-432)taC>taT		chromosome 16 open reading frame 80							248.0	205.0	220.0					16																	58149206		2198	4300	6498	SO:0001819	synonymous_variant	29105				multicellular organismal development			g.chr16:58149206G>A																												ENST00000262498.3:c.432C>T	16.37:g.58149206G>A						C16orf80_ENST00000562443.1_5'UTR	p.Y144Y	NM_013242.2	NP_037374.1	Q9Y6A4	CP080_HUMAN			4	766	-			144						Silent	SNP	ENST00000262498.3	37	c.432C>T	CCDS10793.1																																																																																				0.552	C16orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257388.2			4	102	0	0	0	1	0	4	102				
ITSN1	6453	broad.mit.edu	37	21	35144467	35144467	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr21:35144467G>A	ENST00000381318.3	+	12	1433	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	ITSN1_ENST00000399326.3_Missense_Mutation_p.R382H|ITSN1_ENST00000381291.4_Missense_Mutation_p.R382H|ITSN1_ENST00000379960.5_Missense_Mutation_p.R382H|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.R382H|ITSN1_ENST00000399355.2_Missense_Mutation_p.R382H|ITSN1_ENST00000381285.4_Missense_Mutation_p.R382H|ITSN1_ENST00000399352.1_Missense_Mutation_p.R382H|ITSN1_ENST00000399353.1_Missense_Mutation_p.R345H|ITSN1_ENST00000399338.4_Missense_Mutation_p.R382H|ITSN1_ENST00000399349.1_Missense_Mutation_p.R382H|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.R382H	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	382	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R382H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GAGCAGGAGCGCCTGGCCCAG	0.572																																						ENST00000381318.3																			1	Substitution - Missense(1)	p.R382H(1)	large_intestine(1)	breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(1144-1146)cGc>cAc		intersectin 1 (SH3 domain protein)							52.0	58.0	56.0					21																	35144467		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35144467G>A	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1145G>A	21.37:g.35144467G>A	ENSP00000370719:p.Arg382His					ITSN1_ENST00000381285.4_Missense_Mutation_p.R382H|ITSN1_ENST00000381291.4_Missense_Mutation_p.R382H|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.R382H|ITSN1_ENST00000399352.1_Missense_Mutation_p.R382H|ITSN1_ENST00000399355.2_Missense_Mutation_p.R382H|ITSN1_ENST00000399326.3_Missense_Mutation_p.R382H|ITSN1_ENST00000399338.4_Missense_Mutation_p.R382H|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000437442.2_Missense_Mutation_p.R382H|ITSN1_ENST00000399367.3_Missense_Mutation_p.R382H|ITSN1_ENST00000379960.5_Missense_Mutation_p.R382H|ITSN1_ENST00000399353.1_Missense_Mutation_p.R345H	p.R382H	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			12	1433	+			382			KLERQ.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.1145G>A	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818434	0.90790	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000381283;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T;T	0.51325	1.52;0.71;0.77;0.71;1.52;1.52;0.75;1.52;1.39;1.52;1.52;1.52;1.52	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.69557	0.3124	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.999;1.0;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D;D;D	0.80764	0.987;0.987;0.987;0.987;0.994;0.991;0.987;0.987;0.994;0.987	T	0.72523	-0.4267	10	0.87932	D	0	.	19.2198	0.93791	0.0:0.0:1.0:0.0	.	345;345;345;382;382;382;382;382;382;345	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	H	345;382;382;382;382;382;382;382;382;382;322;382;382;382;382	ENSP00000382290:R345H;ENSP00000370719:R382H;ENSP00000370691:R382H;ENSP00000370685:R382H;ENSP00000382301:R382H;ENSP00000382289:R382H;ENSP00000382292:R382H;ENSP00000382286:R382H;ENSP00000370683:R322H;ENSP00000382275:R382H;ENSP00000387377:R382H;ENSP00000382265:R382H;ENSP00000369294:R382H	ENSP00000369294:R382H	R	+	2	0	ITSN1	34066337	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.619000	0.98369	2.616000	0.88540	0.455000	0.32223	CGC		0.572	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		13	30	0	0	0	1	0	13	30				
CACNA1D	776	broad.mit.edu	37	3	53769491	53769491	+	Silent	SNP	C	C	T	rs148699423		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr3:53769491C>T	ENST00000350061.5	+	20	3223	c.2712C>T	c.(2710-2712)gcC>gcT	p.A904A	CACNA1D_ENST00000288139.4_Silent_p.A924A|CACNA1D_ENST00000422281.2_Silent_p.A904A	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	904					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGCCCTGGCCGCAGAGGACC	0.627																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(2770-2772)gcC>gcT		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)	C	,,	1,4405	2.1+/-5.4	0,1,2202	89.0	74.0	79.0		2772,2712,2712	-10.9	0.0	3	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CACNA1D	NM_000720.2,NM_001128839.1,NM_001128840.1	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	924/2182,904/2138,904/2162	53769491	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53769491C>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2712C>T	3.37:g.53769491C>T						CACNA1D_ENST00000350061.5_Silent_p.A904A|CACNA1D_ENST00000422281.2_Silent_p.A904A	p.A924A	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	21	2890	+			904					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	c.2772C>T	CCDS46848.1																																																																																				0.627	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		37	63	0	0	0	1	0	37	63				
OR5M8	219484	broad.mit.edu	37	11	56258392	56258392	+	Missense_Mutation	SNP	G	G	A	rs201389871		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr11:56258392G>A	ENST00000327216.2	-	1	479	c.455C>T	c.(454-456)gCg>gTg	p.A152V		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A152V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GCCAGTGAGCGCTCCATACAC	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		18254	0.0		0.001	False		,,,				2504	0.0					ENST00000327216.2																			1	Substitution - Missense(1)	p.A152V(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(454-456)gCg>gTg		olfactory receptor, family 5, subfamily M, member 8		G	VAL/ALA	0,4402		0,0,2201	86.0	79.0	81.0		455	-1.1	0.0	11		81	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR5M8	NM_001005282.1	64	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	152/312	56258392	1,12993	2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258392G>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.455C>T	11.37:g.56258392G>A	ENSP00000323354:p.Ala152Val						p.A152V	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	479	-	Esophageal squamous(21;0.00352)		152					B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.455C>T	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	7.051	0.564517	0.13498	0.0	1.16E-4	ENSG00000181371	ENST00000327216	T	0.00044	8.83	4.35	-1.13	0.09775	GPCR, rhodopsin-like superfamily (1);	0.403835	0.18118	N	0.151140	T	0.00073	0.0002	N	0.04203	-0.255	0.09310	N	1	B	0.15930	0.015	B	0.15484	0.013	T	0.20672	-1.0268	10	0.54805	T	0.06	-6.5524	5.1896	0.15203	0.3453:0.1407:0.514:0.0	.	152	Q8NGP6	OR5M8_HUMAN	V	152	ENSP00000323354:A152V	ENSP00000323354:A152V	A	-	2	0	OR5M8	56014968	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-0.745000	0.04834	-0.451000	0.07097	-0.162000	0.13425	GCG		0.512	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		12	36	0	0	0	1	0	12	36				
NUTM1	256646	broad.mit.edu	37	15	34647757	34647757	+	Silent	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr15:34647757C>T	ENST00000333756.4	+	7	1619	c.1464C>T	c.(1462-1464)ggC>ggT	p.G488G	NUTM1_ENST00000537011.1_Silent_p.G516G|NUTM1_ENST00000438749.3_Silent_p.G506G	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	488						cytoplasm (GO:0005737)|nucleus (GO:0005634)											GTTTCAGTGGCGCTCAGTTGG	0.557																																						ENST00000537011.1																			0											c.(1546-1548)ggC>ggT		NUT midline carcinoma, family member 1							83.0	91.0	88.0					15																	34647757		2201	4298	6499	SO:0001819	synonymous_variant	256646							g.chr15:34647757C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.1464C>T	15.37:g.34647757C>T						NUTM1_ENST00000438749.3_Silent_p.G506G|NUTM1_ENST00000333756.4_Silent_p.G488G	p.G516G							8	1930	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.1548C>T	CCDS32190.1																																																																																				0.557	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		28	27	0	0	0	1	0	28	27				
ANKRD55	79722	broad.mit.edu	37	5	55472076	55472076	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr5:55472076C>T	ENST00000341048.4	-	4	366	c.215G>A	c.(214-216)cGt>cAt	p.R72H	ANKRD55_ENST00000513241.2_Missense_Mutation_p.R43H|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R72H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	72										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GTCCGCTTGACGTCCAGAAAC	0.483																																						ENST00000341048.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34						c.(214-216)cGt>cAt		ankyrin repeat domain 55							170.0	144.0	153.0					5																	55472076		2203	4300	6503	SO:0001583	missense	79722							g.chr5:55472076C>T	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.215G>A	5.37:g.55472076C>T	ENSP00000342295:p.Arg72His					ANKRD55_ENST00000504958.2_Missense_Mutation_p.R72H|ANKRD55_ENST00000513241.2_Missense_Mutation_p.R43H	p.R72H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN			4	366	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	71					B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	c.215G>A	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087606	0.94100	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000513241;ENST00000519586	T;T;T	0.64803	-0.12;0.61;0.61	5.49	5.49	0.81192	.	0.063724	0.64402	D	0.000016	T	0.71837	0.3387	L	0.33710	1.025	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	T	0.70898	-0.4747	10	0.41790	T	0.15	.	18.9732	0.92724	0.0:1.0:0.0:0.0	.	72	B3KVT8	.	H	72;72;72;43;72	ENSP00000342295:R72H;ENSP00000424230:R72H;ENSP00000423507:R43H	ENSP00000342295:R72H	R	-	2	0	ANKRD55	55507833	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.485000	0.73625	2.564000	0.86499	0.563000	0.77884	CGT		0.483	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		42	84	0	0	0	1	0	42	84				
DNAH11	8701	broad.mit.edu	37	7	21906265	21906265	+	Missense_Mutation	SNP	A	A	G	rs72658813	byFrequency	TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr7:21906265A>G	ENST00000409508.3	+	71	11705	c.11674A>G	c.(11674-11676)Atg>Gtg	p.M3892V	DNAH11_ENST00000328843.6_Missense_Mutation_p.M3899V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3899					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCCTGACAGAATGACGTATGC	0.408									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(11695-11697)Atg>Gtg		dynein, axonemal, heavy chain 11							59.0	59.0	59.0					7																	21906265		1880	4112	5992	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21906265A>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11674A>G	7.37:g.21906265A>G	ENSP00000475939:p.Met3892Val					DNAH11_ENST00000409508.3_Missense_Mutation_p.M3892V	p.M3899V			Q96DT5	DYH11_HUMAN			72	11726	+			3899					Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.11695A>G		.	.	.	.	.	.	.	.	.	.	A	14.42	2.530731	0.45073	.	.	ENSG00000105877	ENST00000328843	T	0.07688	3.17	5.81	2.06	0.26882	Dynein heavy chain (1);	0.110883	0.85682	D	0.000000	T	0.03959	0.0111	.	.	.	0.52099	D	0.999945	B	0.11235	0.004	B	0.17979	0.02	T	0.39461	-0.9613	9	0.08381	T	0.77	.	7.1454	0.25581	0.7442:0.1229:0.1329:0.0	.	3899	Q96DT5	DYH11_HUMAN	V	3899	ENSP00000330671:M3899V	ENSP00000330671:M3899V	M	+	1	0	DNAH11	21872790	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.684000	0.54671	0.453000	0.26858	0.533000	0.62120	ATG		0.408	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		12	31	0	0	0	1	0	12	31				
KIT	3815	broad.mit.edu	37	4	55589817	55589817	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr4:55589817C>A	ENST00000288135.5	+	8	1396	c.1299C>A	c.(1297-1299)ttC>ttA	p.F433L		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	433	Ig-like C2-type 5.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGCAGGATTCCCAGAGCCCA	0.458		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(1297-1299)ttC>ttA		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						119.0	109.0	112.0					4																	55589817		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55589817C>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1299C>A	4.37:g.55589817C>A	ENSP00000288135:p.Phe433Leu						p.F433L	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	8	1396	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		433			Ig-like C2-type 5.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.1299C>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339907	0.41398	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.03152	4.03;4.03	6.04	-2.75	0.05914	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000010	T	0.09291	0.0229	M	0.78916	2.43	0.58432	D	0.999998	P;P	0.49559	0.638;0.925	B;P	0.50192	0.18;0.634	T	0.03017	-1.1082	10	0.62326	D	0.03	.	13.6342	0.62213	0.0:0.5219:0.0:0.4781	.	433;433	P10721-2;P10721	.;KIT_HUMAN	L	433	ENSP00000288135:F433L;ENSP00000390987:F433L	ENSP00000288135:F433L	F	+	3	2	KIT	55284574	1.000000	0.71417	0.910000	0.35882	0.032000	0.12392	1.394000	0.34509	-0.520000	0.06435	-0.471000	0.05019	TTC		0.458	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			20	38	1	0	9.22233e-05	1	9.33907e-05	20	38				
SOX30	11063	broad.mit.edu	37	5	157078524	157078524	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr5:157078524G>A	ENST00000265007.6	-	1	904	c.563C>T	c.(562-564)gCg>gTg	p.A188V	SOX30_ENST00000311371.5_Missense_Mutation_p.A188V|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	188					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACCTCCTCCGCCTCCAGCTT	0.642																																					Esophageal Squamous(31;525 799 19355 21125 41744)	ENST00000265007.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(562-564)gCg>gTg		SRY (sex determining region Y)-box 30							53.0	62.0	59.0					5																	157078524		2202	4299	6501	SO:0001583	missense	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157078524G>A	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.563C>T	5.37:g.157078524G>A	ENSP00000265007:p.Ala188Val					SOX30_ENST00000311371.5_Missense_Mutation_p.A188V|SOX30_ENST00000519442.1_Intron	p.A188V	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	904	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	188					O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	c.563C>T	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	G	5.178	0.218455	0.09810	.	.	ENSG00000039600	ENST00000311371;ENST00000265007	D;D	0.98978	-5.29;-4.76	4.23	1.49	0.22878	.	0.853988	0.09931	N	0.737238	D	0.96197	0.8760	L	0.27053	0.805	0.34629	D	0.719446	B;B	0.28128	0.201;0.019	B;B	0.23852	0.049;0.002	D	0.93845	0.7140	10	0.72032	D	0.01	.	7.7529	0.28907	0.2624:0.0:0.7376:0.0	.	188;188	O94993-2;O94993	.;SOX30_HUMAN	V	188	ENSP00000309343:A188V;ENSP00000265007:A188V	ENSP00000265007:A188V	A	-	2	0	SOX30	157011102	0.000000	0.05858	0.162000	0.22713	0.026000	0.11368	-0.334000	0.07883	0.106000	0.17784	0.305000	0.20034	GCG		0.642	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		37	71	0	0	0	1	0	37	71				
TMEM132B	114795	broad.mit.edu	37	12	125900178	125900178	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr12:125900178C>T	ENST00000299308.3	+	3	1054	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	349						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACTCAGACGTCGGCCACCCTC	0.602																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(1045-1047)tCg>tTg		transmembrane protein 132B							55.0	65.0	62.0					12																	125900178		2186	4277	6463	SO:0001583	missense	114795					integral to membrane		g.chr12:125900178C>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1046C>T	12.37:g.125900178C>T	ENSP00000299308:p.Ser349Leu						p.S349L	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	3	1054	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		349					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.1046C>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283981	0.40394	.	.	ENSG00000139364	ENST00000299308	T	0.13196	2.61	5.63	3.76	0.43208	.	.	.	.	.	T	0.08626	0.0214	N	0.08118	0	0.80722	D	1	B	0.17667	0.023	B	0.13407	0.009	T	0.13124	-1.0521	9	0.62326	D	0.03	.	14.6141	0.68537	0.0:0.723:0.277:0.0	.	349	Q14DG7	T132B_HUMAN	L	349	ENSP00000299308:S349L	ENSP00000299308:S349L	S	+	2	0	TMEM132B	124466131	0.067000	0.21026	0.241000	0.24154	0.554000	0.35429	2.013000	0.40942	0.713000	0.32060	0.655000	0.94253	TCG		0.602	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		21	51	0	0	0	1	0	21	51				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	45	0	0	0	1	0	3	45				
HMBOX1	79618	broad.mit.edu	37	8	28906544	28906544	+	Silent	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:28906544C>T	ENST00000397358.3	+	10	1808	c.1104C>T	c.(1102-1104)gaC>gaT	p.D368D	HMBOX1_ENST00000287701.10_Silent_p.D368D|HMBOX1_ENST00000355231.5_Silent_p.D367D|HMBOX1_ENST00000519047.1_Silent_p.D367D|HMBOX1_ENST00000524238.1_Silent_p.D367D|HMBOX1_ENST00000523613.1_Silent_p.D368D|HMBOX1_ENST00000444075.1_Silent_p.D367D|HMBOX1_ENST00000558662.1_Silent_p.D367D|RNA5SP260_ENST00000363849.1_RNA|HMBOX1_ENST00000517386.1_3'UTR	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	368					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		ATGATGTCGACGGGAATGACT	0.532																																						ENST00000397358.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11						c.(1102-1104)gaC>gaT		homeobox containing 1							143.0	130.0	135.0					8																	28906544		2203	4300	6503	SO:0001819	synonymous_variant	79618				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:28906544C>T	AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"""Homeoboxes / HNF class"""	26137	protein-coding gene	gene with protein product	"""homeobox telomere-binding protein 1"""					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.1104C>T	8.37:g.28906544C>T						HMBOX1_ENST00000523613.1_Silent_p.D368D|HMBOX1_ENST00000287701.10_Silent_p.D368D|HMBOX1_ENST00000558662.1_Silent_p.D367D|HMBOX1_ENST00000517386.1_3'UTR|HMBOX1_ENST00000524238.1_Silent_p.D367D|HMBOX1_ENST00000519047.1_Silent_p.D367D|HMBOX1_ENST00000444075.1_Silent_p.D367D|HMBOX1_ENST00000355231.5_Silent_p.D367D	p.D368D	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)	10	1808	+		Ovarian(32;0.0192)	368					A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Silent	SNP	ENST00000397358.3	37	c.1104C>T	CCDS6071.1																																																																																				0.532	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255267.4	NM_024567		4	105	0	0	0	1	0	4	105				
NLRP4	147945	broad.mit.edu	37	19	56369885	56369885	+	Missense_Mutation	SNP	G	G	A	rs149428225		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:56369885G>A	ENST00000301295.6	+	3	1548	c.1126G>A	c.(1126-1128)Gtc>Atc	p.V376I	NLRP4_ENST00000346986.5_Missense_Mutation_p.V376I|NLRP4_ENST00000587891.1_Missense_Mutation_p.V301I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	376	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTCCTCTTTCGTCTTTAACCT	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17572	0.0		0.0	False		,,,				2504	0.0					ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(1126-1128)Gtc>Atc		NLR family, pyrin domain containing 4		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	53.0	47.0	49.0		1126	-7.1	0.0	19	dbSNP_134	49	0,8600		0,0,4300	no	missense	NLRP4	NM_134444.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	376/995	56369885	1,13005	2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369885G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1126G>A	19.37:g.56369885G>A	ENSP00000301295:p.Val376Ile					NLRP4_ENST00000346986.5_Missense_Mutation_p.V376I|NLRP4_ENST00000587891.1_Missense_Mutation_p.V301I	p.V376I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1548	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	376			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1126G>A	CCDS12936.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.070	-1.205152	0.01568	2.27E-4	0.0	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.83914	-1.78;-1.78	4.1	-7.05	0.01573	.	.	.	.	.	T	0.52500	0.1738	N	0.04203	-0.255	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.47328	-0.9126	9	0.17832	T	0.49	.	0.214	0.00159	0.3007:0.236:0.2326:0.2307	.	376;301;376	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	I	376	ENSP00000301295:V376I;ENSP00000344787:V376I	ENSP00000301295:V376I	V	+	1	0	NLRP4	61061697	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.483000	0.00980	-1.902000	0.01094	-1.021000	0.02439	GTC		0.577	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		16	81	0	0	0	1	0	16	81				
CCDC144A	9720	broad.mit.edu	37	17	16593777	16593777	+	Silent	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:16593777C>T	ENST00000360524.8	+	1	139	c.63C>T	c.(61-63)taC>taT	p.Y21Y	CCDC144A_ENST00000399273.1_Silent_p.Y21Y|CCDC144A_ENST00000340621.5_Silent_p.Y21Y|CCDC144A_ENST00000443444.2_Silent_p.Y21Y|CCDC144A_ENST00000456009.1_Silent_p.Y21Y|RP11-219A15.1_ENST00000448331.3_Silent_p.Y21Y|RNU6-405P_ENST00000516637.1_RNA|CCDC144A_ENST00000436374.1_3'UTR	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	21																	CGGCAGTCTACGCCACGAGGA	0.667																																						ENST00000443444.2																			0											c.(61-63)taC>taT		coiled-coil domain containing 144A							24.0	27.0	26.0					17																	16593777		2202	4300	6502	SO:0001819	synonymous_variant	9720							g.chr17:16593777C>T	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.63C>T	17.37:g.16593777C>T						CCDC144A_ENST00000360524.8_Silent_p.Y21Y|CCDC144A_ENST00000340621.5_Silent_p.Y21Y|CCDC144A_ENST00000399273.1_Silent_p.Y21Y|CCDC144A_ENST00000436374.1_3'UTR|RP11-219A15.1_ENST00000448331.3_Silent_p.Y21Y|CCDC144A_ENST00000456009.1_Silent_p.Y21Y	p.Y21Y			A2RUR9	C144A_HUMAN			1	203	+			21					O60311|Q6ZU57	Silent	SNP	ENST00000360524.8	37	c.63C>T	CCDS45621.1																																																																																				0.667	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			12	24	0	0	0	1	0	12	24				
ZSCAN18	65982	broad.mit.edu	37	19	58597628	58597628	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:58597628G>C	ENST00000240727.6	-	6	1150	c.751C>G	c.(751-753)Cag>Gag	p.Q251E	ZSCAN18_ENST00000421612.2_Missense_Mutation_p.Q116E|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.Q307E|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.Q251E	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	251					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TGGGAAAGCTGATACCCTGAG	0.562																																						ENST00000240727.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(751-753)Cag>Gag		zinc finger and SCAN domain containing 18							65.0	56.0	59.0					19																	58597628		2203	4300	6503	SO:0001583	missense	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58597628G>C	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.751C>G	19.37:g.58597628G>C	ENSP00000240727:p.Gln251Glu					ZSCAN18_ENST00000421612.2_Missense_Mutation_p.Q116E|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.Q307E|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.Q251E	p.Q251E	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1150	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	251					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	c.751C>G	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028523	0.54790	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02974	4.49;4.09	3.3	2.22	0.28083	.	0.000000	0.35555	N	0.003133	T	0.01489	0.0048	N	0.24115	0.695	0.29945	N	0.820765	B;P;B;B	0.38473	0.176;0.633;0.27;0.176	B;B;B;B	0.30782	0.048;0.12;0.103;0.048	T	0.29610	-1.0006	10	0.02654	T	1	-18.5613	8.3965	0.32559	0.0:0.2417:0.7583:0.0	.	307;116;251;251	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	E	307;251;116	ENSP00000240727:Q251E;ENSP00000392653:Q116E	ENSP00000240727:Q251E	Q	-	1	0	ZSCAN18	63289440	0.925000	0.31364	1.000000	0.80357	0.991000	0.79684	2.207000	0.42788	0.916000	0.36871	0.561000	0.74099	CAG		0.562	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		21	55	0	0	0	1	0	21	55				
PLOD2	5352	broad.mit.edu	37	3	145796957	145796957	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr3:145796957A>C	ENST00000360060.3	-	13	1623	c.1446T>G	c.(1444-1446)ttT>ttG	p.F482L	RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000282903.5_Missense_Mutation_p.F482L|PLOD2_ENST00000461497.1_Missense_Mutation_p.F142L|PLOD2_ENST00000494950.1_Missense_Mutation_p.F427L	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	482					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TATCACGAACAAAATAGTTCC	0.378																																						ENST00000282903.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1444-1446)ttT>ttG		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	Vitamin C(DB00126)						187.0	170.0	176.0					3																	145796957		2203	4299	6502	SO:0001583	missense	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr3:145796957A>C	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1446T>G	3.37:g.145796957A>C	ENSP00000353170:p.Phe482Leu					RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000360060.3_Missense_Mutation_p.F482L|PLOD2_ENST00000461497.1_Missense_Mutation_p.F142L|PLOD2_ENST00000494950.1_Missense_Mutation_p.F427L	p.F482L	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN			13	1623	-			482					B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	c.1446T>G	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740356	0.89573	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000360060;ENST00000494950	D;T;T;T	0.90133	-2.62;-0.07;-0.13;-0.04	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.94735	0.8301	M	0.84683	2.71	0.80722	D	1	D;D;P;P	0.59767	0.986;0.97;0.562;0.901	D;P;B;P	0.69654	0.965;0.643;0.439;0.49	D	0.94606	0.7800	10	0.52906	T	0.07	-31.0072	10.1626	0.42860	0.9148:0.0:0.0852:0.0	.	427;482;482;142	E7ETU9;O00469;O00469-2;B3KWS3	.;PLOD2_HUMAN;.;.	L	142;482;482;427	ENSP00000419354:F142L;ENSP00000282903:F482L;ENSP00000353170:F482L;ENSP00000420094:F427L	ENSP00000282903:F482L	F	-	3	2	PLOD2	147279647	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.445000	0.44899	2.083000	0.62718	0.533000	0.62120	TTT		0.378	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		42	74	0	0	0	1	0	42	74				
ZNF587B	100293516	broad.mit.edu	37	19	58353210	58353211	+	Intron	DNP	TC	TC	AT			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:58353210_58353211TC>AT	ENST00000442832.4	+	3	1356				ZNF587B_ENST00000316462.4_Intron|CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.S390I	NM_001204818.1	NP_001191747.1	E7ETH6	Z587B_HUMAN	zinc finger protein 587B						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										ATGTGGGAAATCTTATATTTCA	0.431																																						ENST00000594901.1																			0											c.(1168-1170)Tct>Act|c.(1168-1170)tCt>tTt		zinc finger protein 587B																																				SO:0001627	intron_variant	100293516				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58353210T>A|g.chr19:58353211C>T	AK299091	CCDS56109.1	19q13.43	2013-01-08				ENSG00000269343		"""Zinc fingers, C2H2-type"", ""-"""	37142	protein-coding gene	gene with protein product							Standard	NM_001204818		Approved		uc021vcp.1	E7ETH6		Exception_encountered	19.37:g.58353210_58353211delinsAT						ZNF587B_ENST00000316462.4_Intron|CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000442832.4_Intron	p.S390T|p.S390F			B4DR41	B4DR41_HUMAN			3	1384|1385	+			306					B4DR41	Missense_Mutation	SNP	ENST00000442832.4	37	c.1168T>A|c.1169C>T	CCDS56109.1																																																																																				0.431	ZNF587B-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466834.2	NM_001204818		8	20	0	0	0	1	0	8	20				
IGSF3	3321	broad.mit.edu	37	1	117122291	117122291	+	Missense_Mutation	SNP	C	C	G	rs569343519	byFrequency	TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:117122291C>G	ENST00000369486.3	-	10	3822	c.3057G>C	c.(3055-3057)gaG>gaC	p.E1019D	IGSF3_ENST00000318837.6_Missense_Mutation_p.E1039D|IGSF3_ENST00000369483.1_Missense_Mutation_p.E1039D	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1019	Ig-like C2-type 8.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		cgtcgtcgtcctcctcctcct	0.637													C|||	12	0.00239617	0.0023	0.0	5008	,	,		18566	0.003		0.0	False		,,,				2504	0.0061					ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(3055-3057)gaG>gaC		immunoglobulin superfamily, member 3							28.0	29.0	29.0					1																	117122291		2203	4300	6503	SO:0001583	missense	3321					integral to membrane		g.chr1:117122291C>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3057G>C	1.37:g.117122291C>G	ENSP00000358498:p.Glu1019Asp					IGSF3_ENST00000318837.6_Missense_Mutation_p.E1039D|IGSF3_ENST00000369483.1_Missense_Mutation_p.E1039D	p.E1019D	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	10	3822	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	1019			Ig-like C2-type 8.		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.3057G>C	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	0.860	-0.735766	0.03111	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.02863	4.15;4.13;4.13	2.7	-5.4	0.02656	Immunoglobulin subtype (1);Immunoglobulin-like (1);	1.696000	0.03619	N	0.236120	T	0.00384	0.0012	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48768	-0.9006	10	0.15952	T	0.53	-1.3732	1.6073	0.02687	0.152:0.1895:0.1511:0.5074	.	1019;1039	O75054;A6NJZ6	IGSF3_HUMAN;.	D	1019;1039;1039	ENSP00000358498:E1019D;ENSP00000358495:E1039D;ENSP00000321184:E1039D	ENSP00000321184:E1039D	E	-	3	2	IGSF3	116923814	0.018000	0.18449	0.000000	0.03702	0.117000	0.20001	-1.573000	0.02134	-1.538000	0.01734	0.462000	0.41574	GAG		0.637	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		4	17	0	0	0	1	0	4	17				
TTN	7273	broad.mit.edu	37	2	179591950	179591950	+	Nonsense_Mutation	SNP	G	G	T	rs535793314	byFrequency	TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr2:179591950G>T	ENST00000591111.1	-	67	19415	c.19191C>A	c.(19189-19191)taC>taA	p.Y6397*	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.Y6714*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y5470*|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13168	Ig-like 45.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTCATTCTGTACTTATCAC	0.458																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(20140-20142)taC>taA		titin							98.0	91.0	93.0					2																	179591950		1919	4126	6045	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179591950G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19191C>A	2.37:g.179591950G>T	ENSP00000465570:p.Tyr6397*					TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y6397*|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y5470*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.Y6714*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		69	20366	-			6397			Ig-like 48.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.20142C>A		.	.	.	.	.	.	.	.	.	.	G	57	28.155007	0.99973	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.17	3.03	0.35002	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.9362	0.58316	0.2031:0.0:0.7969:0.0	.	.	.	.	X	5470	.	ENSP00000343764:Y5470X	Y	-	3	2	TTN	179300195	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.079000	0.41577	0.952000	0.37798	0.655000	0.94253	TAC		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	35	1	0	1.5842e-08	1	1.68981e-08	14	35				
SPATA6	54558	broad.mit.edu	37	1	48764519	48764519	+	Missense_Mutation	SNP	A	A	G	rs138130686		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:48764519A>G	ENST00000371847.3	-	13	1497	c.1333T>C	c.(1333-1335)Tac>Cac	p.Y445H	SPATA6_ENST00000371843.3_Missense_Mutation_p.Y429H|SPATA6_ENST00000396199.3_Missense_Mutation_p.Y373H	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	445					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTGGACCAGTATTCACCGTCA	0.413																																						ENST00000371847.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1333-1335)Tac>Cac		spermatogenesis associated 6		A	HIS/TYR	0,4406		0,0,2203	132.0	132.0	132.0		1333	4.8	1.0	1	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPATA6	NM_019073.2	83	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	445/489	48764519	1,13005	2203	4300	6503	SO:0001583	missense	54558				cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		g.chr1:48764519A>G	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.1333T>C	1.37:g.48764519A>G	ENSP00000360913:p.Tyr445His					SPATA6_ENST00000371843.3_Missense_Mutation_p.Y429H|SPATA6_ENST00000396199.3_Missense_Mutation_p.Y373H	p.Y445H	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN			13	1497	-			445					Q5T3N7|Q8WUE6	Missense_Mutation	SNP	ENST00000371847.3	37	c.1333T>C	CCDS551.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.354992	0.61293	0.0	1.16E-4	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199	T;T;T	0.17528	2.27;2.43;2.31	4.82	4.82	0.62117	.	0.291000	0.31134	N	0.008199	T	0.22205	0.0535	L	0.38175	1.15	0.24340	N	0.994969	P;P;P	0.47253	0.892;0.873;0.873	P;P;P	0.51777	0.542;0.679;0.679	T	0.04481	-1.0948	10	0.87932	D	0	.	10.7033	0.45939	1.0:0.0:0.0:0.0	.	373;429;445	B4DX17;Q9NWH7-2;Q9NWH7	.;.;SPAT6_HUMAN	H	445;429;373	ENSP00000360913:Y445H;ENSP00000360909:Y429H;ENSP00000379502:Y373H	ENSP00000360909:Y429H	Y	-	1	0	SPATA6	48537106	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	5.238000	0.65366	2.026000	0.59711	0.460000	0.39030	TAC		0.413	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073		31	80	0	0	0	1	0	31	80				
ZNF587B	100293516	broad.mit.edu	37	19	58353043	58353043	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:58353043C>G	ENST00000442832.4	+	3	1235	c.1001C>G	c.(1000-1002)tCt>tGt	p.S334C	ZNF587B_ENST00000316462.4_Intron|CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.S334C	NM_001204818.1	NP_001191747.1	E7ETH6	Z587B_HUMAN	zinc finger protein 587B	334					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										TGTGGGAAATCTTTTAGTTCA	0.423																																						ENST00000442832.4																			0											c.(1000-1002)tCt>tGt		zinc finger protein 587B																																				SO:0001583	missense	100293516				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58353043C>G	AK299091	CCDS56109.1	19q13.43	2013-01-08				ENSG00000269343		"""Zinc fingers, C2H2-type"", ""-"""	37142	protein-coding gene	gene with protein product							Standard	NM_001204818		Approved		uc021vcp.1	E7ETH6		ENST00000442832.4:c.1001C>G	19.37:g.58353043C>G	ENSP00000392410:p.Ser334Cys					ZNF587B_ENST00000594901.1_Missense_Mutation_p.S334C|ZNF587B_ENST00000316462.4_Intron|CTD-2583A14.10_ENST00000598031.1_Intron	p.S334C	NM_001204818.1	NP_001191747.1	B4DR41	B4DR41_HUMAN			3	1235	+			334					B4DR41	Missense_Mutation	SNP	ENST00000442832.4	37	c.1001C>G	CCDS56109.1	.	.	.	.	.	.	.	.	.	.	.	11.59	1.684838	0.29872	.	.	ENSG00000198466	ENST00000442832	T	0.19806	2.12	1.95	1.95	0.26073	.	.	.	.	.	T	0.14657	0.0354	L	0.38649	1.16	.	.	.	P;B	0.34462	0.454;0.143	B;B	0.33339	0.162;0.012	T	0.15578	-1.0432	7	.	.	.	.	7.6364	0.28270	0.0:0.5319:0.4681:0.0	.	334;283	E7ETH6;Q92967	.;.	C	334	ENSP00000392410:S334C	.	S	+	2	0	ZNF587	63044855	0.000000	0.05858	0.289000	0.24876	0.020000	0.10135	-1.738000	0.01842	1.079000	0.41038	0.306000	0.20318	TCT		0.423	ZNF587B-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466834.2	NM_001204818		5	16	0	0	0	1	0	5	16				
TRIT1	54802	broad.mit.edu	37	1	40315879	40315879	+	Silent	SNP	A	A	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:40315879A>G	ENST00000316891.5	-	5	629	c.615T>C	c.(613-615)cgT>cgC	p.R205R	TRIT1_ENST00000441669.2_Silent_p.R125R|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000545233.1_5'UTR|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_5'UTR|TRIT1_ENST00000372818.1_Silent_p.R205R	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	205					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCGTATGTTGACGATGGAGAA	0.473																																						ENST00000316891.5																			0				breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15						c.(613-615)cgT>cgC		tRNA isopentenyltransferase 1							83.0	79.0	80.0					1																	40315879		2203	4300	6503	SO:0001819	synonymous_variant	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40315879A>G	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.615T>C	1.37:g.40315879A>G						TRIT1_ENST00000372818.1_Silent_p.R205R|TRIT1_ENST00000545233.1_5'UTR|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_5'UTR|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000441669.2_Silent_p.R125R	p.R205R	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		5	629	-	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	205					A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Silent	SNP	ENST00000316891.5	37	c.615T>C	CCDS30681.1																																																																																				0.473	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		18	32	0	0	0	1	0	18	32				
SCARA5	286133	broad.mit.edu	37	8	27779582	27779582	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:27779582G>A	ENST00000354914.3	-	4	907	c.422C>T	c.(421-423)gCg>gTg	p.A141V	SCARA5_ENST00000301906.4_Missense_Mutation_p.A98V|SCARA5_ENST00000524352.1_Missense_Mutation_p.A141V|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000518030.1_Missense_Mutation_p.A98V	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	141					cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCCCGCCAGCGCCAGCAACGA	0.721																																						ENST00000354914.3																			0				central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18						c.(421-423)gCg>gTg		scavenger receptor class A, member 5 (putative)							7.0	8.0	8.0					8																	27779582		2183	4265	6448	SO:0001583	missense	286133				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	g.chr8:27779582G>A	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.422C>T	8.37:g.27779582G>A	ENSP00000346990:p.Ala141Val					SCARA5_ENST00000301906.4_Missense_Mutation_p.A98V|SCARA5_ENST00000524352.1_Missense_Mutation_p.A141V|SCARA5_ENST00000518030.1_Missense_Mutation_p.A98V|SCARA5_ENST00000380385.2_Intron	p.A141V	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	4	907	-		Ovarian(32;0.0218)	141					Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	ENST00000354914.3	37	c.422C>T	CCDS6064.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503535	0.26949	.	.	ENSG00000168079	ENST00000354914;ENST00000517320;ENST00000524352;ENST00000518030;ENST00000301906	D;D;D;D	0.91295	-2.44;-2.82;-2.72;-2.72	4.56	2.41	0.29592	.	0.350757	0.27284	N	0.020070	T	0.81418	0.4818	L	0.44542	1.39	0.24214	N	0.995468	B;B;B	0.31209	0.164;0.164;0.313	B;B;B	0.25759	0.063;0.042;0.028	T	0.67601	-0.5629	10	0.30078	T	0.28	.	2.261	0.04067	0.3057:0.0:0.4505:0.2437	.	141;98;141	Q6ZMJ2-2;Q6ZMJ2-3;Q6ZMJ2	.;.;SCAR5_HUMAN	V	141;47;141;98;98	ENSP00000346990:A141V;ENSP00000428663:A141V;ENSP00000430713:A98V;ENSP00000301906:A98V	ENSP00000301906:A98V	A	-	2	0	SCARA5	27835501	0.992000	0.36948	1.000000	0.80357	0.980000	0.70556	1.403000	0.34612	0.911000	0.36747	0.462000	0.41574	GCG		0.721	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		3	4	0	0	0	1	0	3	4				
ACE	1636	broad.mit.edu	37	17	61566030	61566030	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:61566030C>T	ENST00000290866.4	+	16	2351	c.2327C>T	c.(2326-2328)aCg>aTg	p.T776M	ACE_ENST00000413513.3_Missense_Mutation_p.T202M|ACE_ENST00000428043.1_Missense_Mutation_p.T776M|ACE_ENST00000290863.6_Missense_Mutation_p.T202M|ACE_ENST00000577647.1_Missense_Mutation_p.T202M|ACE_ENST00000490216.2_Missense_Mutation_p.T202M|ACE_ENST00000421982.2_Missense_Mutation_p.T86M	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	776	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GTGATGGCCACGTCCCGGAAA	0.537																																						ENST00000577647.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(604-606)aCg>aTg		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						123.0	119.0	120.0					17																	61566030		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61566030C>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2327C>T	17.37:g.61566030C>T	ENSP00000290866:p.Thr776Met					ACE_ENST00000490216.2_Missense_Mutation_p.T202M|ACE_ENST00000421982.2_Missense_Mutation_p.T86M|ACE_ENST00000290866.4_Missense_Mutation_p.T776M|ACE_ENST00000413513.3_Missense_Mutation_p.T202M|ACE_ENST00000428043.1_Missense_Mutation_p.T776M|ACE_ENST00000290863.6_Missense_Mutation_p.T202M	p.T202M			P12821	ACE_HUMAN			5	650	+			776			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.605C>T	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	4.405	0.074783	0.08485	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.93	4.96	0.65561	.	0.210181	0.50627	D	0.000112	T	0.63248	0.2495	M	0.91768	3.24	0.09310	N	0.999997	D;D;D;D	0.76494	0.989;0.998;0.999;0.996	P;D;P;P	0.68765	0.84;0.96;0.882;0.796	T	0.61397	-0.7071	10	0.66056	D	0.02	-33.1521	9.487	0.38935	0.14:0.7876:0.0:0.0724	.	86;202;202;776	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	M	776;776;202;202;86	ENSP00000290866:T776M;ENSP00000397593:T776M;ENSP00000290863:T202M;ENSP00000392247:T202M;ENSP00000387760:T86M	ENSP00000290863:T202M	T	+	2	0	ACE	58919762	0.714000	0.27936	0.970000	0.41538	0.056000	0.15407	1.318000	0.33643	2.815000	0.96918	0.561000	0.74099	ACG		0.537	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			34	56	0	0	0	1	0	34	56				
AKR7L	246181	broad.mit.edu	37	1	19596152	19596152	+	RNA	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:19596152G>A	ENST00000429712.1	-	0	648				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						TCCACCTGCCGGGTGGTGGCG	0.562																																						ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like							77.0	77.0	77.0					1																	19596152		692	1591	2283			246181							g.chr1:19596152G>A			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19596152G>A						AKR7L_ENST00000429712.1_RNA								0	507	-								Q5U614	RNA	SNP	ENST00000429712.1	37			.	.	.	.	.	.	.	.	.	.	G	14.67	2.604020	0.46423	.	.	ENSG00000211454	ENST00000429712;ENST00000388886	.	.	.	3.88	-1.01	0.10169	NADP-dependent oxidoreductase domain (3);	0.053988	0.64402	D	0.000001	T	0.73536	0.3599	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72364	-0.4316	8	0.66056	D	0.02	.	8.512	0.33224	0.0:0.1278:0.3615:0.5107	.	177	Q8NHP1	ARK74_HUMAN	W	177;142	.	ENSP00000373538:R142W	R	-	1	2	AKR7L	19468739	0.835000	0.29415	0.727000	0.30756	0.394000	0.30568	1.300000	0.33436	0.031000	0.15407	0.305000	0.20034	CGG		0.562	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		3	43	0	0	0	1	0	3	43				
RP11-404F10.2	0	broad.mit.edu	37	1	160640798	160640798	+	RNA	DEL	T	T	-			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:160640798delT	ENST00000443928.2	+	0	0				RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA																							TTCTGAACAATTTTTTTTTTA	0.428																																						ENST00000598917.1																			0																																																			0							g.chr1:160640798delT																													1.37:g.160640798delT														0	231	+									RNA	DEL	ENST00000443928.2	37																																																																																						0.428	RP11-404F10.2-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000060453.3			2	4						2	4	---	---	---	---
CACNB4	785	broad.mit.edu	37	2	152955496	152955496	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr2:152955496delC	ENST00000539935.1	-	1	97	c.30delG	c.(28-30)gggfs	p.G10fs	CACNB4_ENST00000427385.1_5'Flank|AC079790.2_ENST00000420365.1_RNA|CACNB4_ENST00000201943.5_Frame_Shift_Del_p.G10fs	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	10					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CGTCCGCGGTCCCGTTCTTGG	0.716																																						ENST00000539935.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(28-30)ggfs		calcium channel, voltage-dependent, beta 4 subunit	Verapamil(DB00661)						13.0	18.0	17.0					2																	152955496		1949	4047	5996	SO:0001589	frameshift_variant	785				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr2:152955496delC	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.30delG	2.37:g.152955496delC	ENSP00000438949:p.Gly10fs					CACNB4_ENST00000201943.5_Frame_Shift_Del_p.G10fs|AC079790.2_ENST00000420365.1_RNA	p.G10fs	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	1	97	-			10					A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Frame_Shift_Del	DEL	ENST00000539935.1	37	c.30delG	CCDS46426.1																																																																																				0.716	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		2	4						2	4	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	GAA	-	rs530167757	byFrequency	TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr3:184039744_184039746delGAA	ENST00000346169.2	+	10	1643_1645	c.1372_1374delGAA	c.(1372-1374)gaadel	p.E465del	EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000342981.4_In_Frame_Del_p.E465del	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	465	Poly-Glu.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGAAATGgaagaagaagaag	0.562																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1372-1374)del		eukaryotic translation initiation factor 4 gamma, 1																																				SO:0001651	inframe_deletion	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039744_184039746delGAA	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1372_1374delGAA	3.37:g.184039753_184039755delGAA	ENSP00000316879:p.Glu465del					EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del	p.E465del	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1786_1788	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		465			Poly-Glu.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	In_Frame_Del	DEL	ENST00000346169.2	37	c.1372_1374delGAA	CCDS3259.1																																																																																				0.562	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		7	302						7	302	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155157357	155157360	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr4:155157357_155157360delTGAG	ENST00000357232.4	-	25	7078_7081	c.7079_7082delCTCA	c.(7078-7083)actcatfs	p.TH2360fs		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2360	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGACATTCCATGAGTGAGAAAACA	0.392																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(7078-7083)atfs		dachsous cadherin-related 2																																				SO:0001589	frameshift_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157357_155157360delTGAG	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7079_7082delCTCA	4.37:g.155157361_155157364delTGAG	ENSP00000349768:p.Thr2360fs						p.TH2360fs	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7078_7081	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2360			Cadherin 21.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Frame_Shift_Del	DEL	ENST00000357232.4	37	c.7079_7082delCTCA	CCDS3785.1																																																																																				0.392	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		17	91						17	91	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123980270	123980273	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr5:123980270_123980273delTCTC	ENST00000306315.5	-	5	4222_4225	c.3787_3790delGAGA	c.(3787-3792)gagaagfs	p.EK1263fs	ZNF608_ENST00000504926.1_Frame_Shift_Del_p.EK836fs|ZNF608_ENST00000513985.1_5'Flank	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1263							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTAATTTCTTCTCTCTATCAAGT	0.387																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(3787-3792)agfs		zinc finger protein 608																																				SO:0001589	frameshift_variant	57507					intracellular	zinc ion binding	g.chr5:123980270_123980273delTCTC	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3787_3790delGAGA	5.37:g.123980270_123980273delTCTC	ENSP00000307746:p.Glu1263fs					ZNF608_ENST00000504926.1_Frame_Shift_Del_p.EK836fs	p.EK1263fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	5	4222_4225	-		all_cancers(142;0.186)|Prostate(80;0.081)	1263					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Frame_Shift_Del	DEL	ENST00000306315.5	37	c.3787_3790delGAGA	CCDS34219.1																																																																																				0.387	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		37	71						37	71	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100388502	100388502	+	RNA	DEL	A	A	-	rs5886138		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr7:100388502delA	ENST00000348028.3	+	0	7521				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			aagactgtctaaaaaaaaaaa	0.522																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100388502delA	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100388502delA						ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	7502	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.522	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		3	5						3	5	---	---	---	---
ST6GALNAC6	30815	broad.mit.edu	37	9	130648958	130648960	+	In_Frame_Del	DEL	GGT	GGT	-	rs144896495		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr9:130648958_130648960delGGT	ENST00000373146.1	-	7	1099_1101	c.920_922delACC	c.(919-924)caccgc>cgc	p.H307del	ST6GALNAC6_ENST00000542456.1_In_Frame_Del_p.H107del|ST6GALNAC6_ENST00000373141.1_In_Frame_Del_p.H273del|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_In_Frame_Del_p.H307del|ST6GALNAC6_ENST00000373142.1_In_Frame_Del_p.T306del|RP11-203J24.9_ENST00000476274.2_RNA|ST6GALNAC6_ENST00000373144.3_In_Frame_Del_p.H273del			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	307					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTGATGAAGCGGTGGTGGTTGCC	0.616																																						ENST00000373146.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(919-924)cgc>c		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6																																				SO:0001651	inframe_deletion	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130648958_130648960delGGT	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.920_922delACC	9.37:g.130648964_130648966delGGT	ENSP00000362239:p.His307del					RP11-203J24.9_ENST00000476274.2_RNA|ST6GALNAC6_ENST00000291839.5_In_Frame_Del_p.HR307del|ST6GALNAC6_ENST00000373141.1_In_Frame_Del_p.HR273del|ST6GALNAC6_ENST00000373142.1_In_Frame_Del_p.T306del|ST6GALNAC6_ENST00000373144.3_In_Frame_Del_p.HR273del|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000542456.1_In_Frame_Del_p.HR107del	p.HR307del			Q969X2	SIA7F_HUMAN			7	1099_1101	-			307					B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	In_Frame_Del	DEL	ENST00000373146.1	37	c.920_922delACC	CCDS6882.1																																																																																				0.616	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		17	53						17	53	---	---	---	---
SPRY2	10253	broad.mit.edu	37	13	80910949	80910952	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr13:80910949_80910952delTGTT	ENST00000377102.1	-	2	1866_1869	c.889_892delAACA	c.(889-894)aacacafs	p.NT297fs	SPRY2_ENST00000377104.3_Frame_Shift_Del_p.NT297fs|SPRY2_ENST00000540649.1_Frame_Shift_Del_p.NT297fs			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	297	Cys-rich.				bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CAGCAAACTGTGTTTGAGTTTTTA	0.436																																						ENST00000377102.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12						c.(889-894)cafs		sprouty homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	10253				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity	g.chr13:80910949_80910952delTGTT	AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.889_892delAACA	13.37:g.80910949_80910952delTGTT	ENSP00000366306:p.Asn297fs					SPRY2_ENST00000540649.1_Frame_Shift_Del_p.NT297fs|SPRY2_ENST00000377104.3_Frame_Shift_Del_p.NT297fs	p.NT297fs			O43597	SPY2_HUMAN		GBM - Glioblastoma multiforme(99;0.0318)	2	1866_1869	-	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)	297			Cys-rich.		B2R9J9|Q5T6Z7	Frame_Shift_Del	DEL	ENST00000377102.1	37	c.889_892delAACA	CCDS9463.1																																																																																				0.436	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1			10	18						10	18	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372914	74372914	+	RNA	DEL	G	G	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr16:74372914delG	ENST00000429810.2	-	0	1404																											AACGTAGtttgtttttttttt	0.433																																						ENST00000429810.2																			0																																																			0							g.chr16:74372914delG																													16.37:g.74372914delG														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.433	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			3	6						3	6	---	---	---	---
LILRA4	23547	broad.mit.edu	37	19	54843564	54843565	+	IGR	INS	-	-	C	rs556721604|rs535654307|rs35566239|rs5828583	byFrequency	TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:54843564_54843565insC	ENST00000291759.4	-	0	1944				AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4						immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CGGCTGCTCCTCCCCAGGCTGC	0.723													?|CCCC|CCCCC|unsure	2000	0.399361	0.1437	0.3905	5008	,	,		12788	0.5903		0.4394	False		,,,				2504	0.5133					ENST00000507363.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr19:54843564_54843565insC	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355		19.37:g.54843568_54843568dupC														0	430	-								Q32MC4	RNA	INS	ENST00000291759.4	37		CCDS12890.1																																																																																				0.723	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		2	4						2	4	---	---	---	---
MMP24	10893	broad.mit.edu	37	20	33855200	33855200	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr20:33855200delG	ENST00000246186.6	+	6	1257	c.1172delG	c.(1171-1173)cggfs	p.R391fs	MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000456350.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	391					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	GCCCTCTTCCGGGGCGAGATG	0.632																																						ENST00000246186.6																			0				NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14						c.(1171-1173)cgfs		matrix metallopeptidase 24 (membrane-inserted)							25.0	30.0	28.0					20																	33855200		1974	4163	6137	SO:0001589	frameshift_variant	10893				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr20:33855200delG	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.1172delG	20.37:g.33855200delG	ENSP00000246186:p.Arg391fs					EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000566203.1_RNA	p.R391fs	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		6	1257	+			391			Hemopexin-like 1.		B7ZBG8|Q9H440	Frame_Shift_Del	DEL	ENST00000246186.6	37	c.1172delG	CCDS46593.1																																																																																				0.632	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		2	4						2	4	---	---	---	---
