#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
NACA	4666	broad.mit.edu	37	12	57111912	57111912	+	Silent	SNP	G	G	A	rs2926744		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr12:57111912G>A	ENST00000454682.1	-	3	3683	c.3402C>T	c.(3400-3402)ccC>ccT	p.P1134P	NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1134	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3400-3402)ccC>ccT		nascent polypeptide-associated complex alpha subunit							61.0	59.0	60.0					12																	57111912		1261	2772	4033	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111912G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3402C>T	12.37:g.57111912G>A						NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron	p.P1134P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3683	-			0						Silent	SNP	ENST00000454682.1	37	c.3402C>T																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		3	66	0	0	0	1	0	3	66				
TCEB1	6921	broad.mit.edu	37	8	74858991	74858991	+	Silent	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:74858991C>T	ENST00000522337.1	-	5	532	c.213G>A	c.(211-213)tcG>tcA	p.S71S	TCEB1_ENST00000520210.1_Silent_p.S55S|TCEB1_ENST00000519487.1_Silent_p.S71S|TCEB1_ENST00000523815.1_Silent_p.S71S|TCEB1_ENST00000520242.1_Silent_p.S71S|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000518127.1_Silent_p.S71S|TCEB1_ENST00000284811.8_Silent_p.S71S			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	71					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			TGCATACTTTCGATAGCACAT	0.398																																						ENST00000518127.1																			0				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7						c.(211-213)tcG>tcA		transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)							98.0	82.0	87.0					8																	74858991		2203	4300	6503	SO:0001819	synonymous_variant	6921				interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding	g.chr8:74858991C>T	L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"""transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"""			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.213G>A	8.37:g.74858991C>T						TCEB1_ENST00000520210.1_Silent_p.S55S|TCEB1_ENST00000522337.1_Silent_p.S71S|TCEB1_ENST00000519487.1_Silent_p.S71S|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000523815.1_Silent_p.S71S|TCEB1_ENST00000284811.8_Silent_p.S71S|TCEB1_ENST00000520242.1_Silent_p.S71S	p.S71S	NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1	NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1	Q15369	ELOC_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)		4	305	-	Breast(64;0.0311)		71					E5RGD9|Q567Q6	Silent	SNP	ENST00000522337.1	37	c.213G>A	CCDS34910.1																																																																																				0.398	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1	NM_005648		3	52	0	0	0	1	0	3	52				
IPO5	3843	broad.mit.edu	37	13	98658457	98658457	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr13:98658457A>G	ENST00000490680.1	+	14	1636	c.1571A>G	c.(1570-1572)gAa>gGa	p.E524G	IPO5_ENST00000261574.5_Missense_Mutation_p.E542G|IPO5_ENST00000539640.1_Missense_Mutation_p.E399G|IPO5_ENST00000493492.2_3'UTR			O00410	IPO5_HUMAN	importin 5	524					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GATACTGCAGAAGAAAAATTT	0.388																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1624-1626)gAa>gGa		importin 5							139.0	135.0	136.0					13																	98658457		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98658457A>G	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1571A>G	13.37:g.98658457A>G	ENSP00000418393:p.Glu524Gly					IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Missense_Mutation_p.E399G|IPO5_ENST00000490680.1_Missense_Mutation_p.E524G	p.E542G	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			17	1805	+			524					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1625A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.164767|5.164767	0.94727|0.94727	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.63744|.	-0.06;-0.06;-0.06;-0.06|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68915|0.68915	0.3053|0.3053	L|L	0.56340|0.56340	1.77|1.77	0.80722|0.80722	D|D	1|1	D;D;D|.	0.62365|.	0.989;0.985;0.991|.	D;P;D|.	0.64687|.	0.928;0.768;0.927|.	T|T	0.67753|0.67753	-0.5589|-0.5589	10|5	0.87932|.	D|.	0|.	-0.7175|-0.7175	15.1685|15.1685	0.72850|0.72850	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	399;524;542|.	B4E0R6;O00410;O00410-3|.	.;IPO5_HUMAN;.|.	G|E	542;524;524;399|526	ENSP00000261574:E542G;ENSP00000350219:E524G;ENSP00000418393:E524G;ENSP00000445126:E399G|.	ENSP00000261574:E542G|.	E|K	+|+	2|1	0|0	IPO5|IPO5	97456458|97456458	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	9.191000|9.191000	0.94940|0.94940	2.042000|2.042000	0.60477|0.60477	0.377000|0.377000	0.23210|0.23210	GAA|AAG		0.388	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		15	150	0	0	0	1	0	15	150				
SMARCE1	6605	broad.mit.edu	37	17	38792704	38792704	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:38792704C>T	ENST00000348513.6	-	6	1092	c.312G>A	c.(310-312)tgG>tgA	p.W104*	SMARCE1_ENST00000544009.1_Nonsense_Mutation_p.W34*|SMARCE1_ENST00000400122.3_Nonsense_Mutation_p.W34*|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Nonsense_Mutation_p.W69*|SMARCE1_ENST00000431889.2_Nonsense_Mutation_p.W86*|SMARCE1_ENST00000578044.1_Nonsense_Mutation_p.W34*|SMARCE1_ENST00000377808.4_Nonsense_Mutation_p.W69*	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	104					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				TGAGATCTCGCCACATGCCAC	0.408																																						ENST00000348513.6																			0				large_intestine(1)	1						c.(310-312)tgG>tgA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1							184.0	169.0	174.0					17																	38792704		2203	4300	6503	SO:0001587	stop_gained	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38792704C>T	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.312G>A	17.37:g.38792704C>T	ENSP00000323967:p.Trp104*					SMARCE1_ENST00000377808.4_Nonsense_Mutation_p.W69*|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000400122.3_Nonsense_Mutation_p.W34*|SMARCE1_ENST00000580419.1_Nonsense_Mutation_p.W69*|SMARCE1_ENST00000578044.1_Nonsense_Mutation_p.W34*|SMARCE1_ENST00000431889.2_Nonsense_Mutation_p.W86*|SMARCE1_ENST00000544009.1_Nonsense_Mutation_p.W34*	p.W104*	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN			6	1092	-		Breast(137;0.000812)	104					B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Nonsense_Mutation	SNP	ENST00000348513.6	37	c.312G>A	CCDS11370.1	.	.	.	.	.	.	.	.	.	.	C	37	6.598233	0.97692	.	.	ENSG00000073584	ENST00000348513;ENST00000544009;ENST00000431889;ENST00000377808	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2825	0.98528	0.0:1.0:0.0:0.0	.	.	.	.	X	104;34;86;69	.	ENSP00000323967:W104X	W	-	3	0	SMARCE1	36046230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.701000	0.84566	2.873000	0.98535	0.561000	0.74099	TGG		0.408	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079		8	149	0	0	0	1	0	8	149				
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1939-1941)aTt>aGt		zinc finger protein 208							108.0	112.0	110.0					19																	22155896		2126	4263	6389	SO:0001583	missense	7757							g.chr19:22155896A>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1940T>G	19.37:g.22155896A>C	ENSP00000380315:p.Ile647Ser					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.I647S	NM_007153.3	NP_009084.2					4	2088	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1940T>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.852850	0.00004	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.34472	1.36	2.49	-4.98	0.03019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12987	0.0315	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.28385	0.089	T	0.08932	-1.0698	8	0.02654	T	1	.	3.9444	0.09343	0.0966:0.28:0.437:0.1864	.	547	O43345	ZN208_HUMAN	S	647;547	ENSP00000380315:I647S	ENSP00000380315:I647S	I	-	2	0	ZNF208	21947736	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.082000	0.00014	-4.116000	0.00072	-4.061000	0.00012	ATT		0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		3	101	0	0	0	1	0	3	101				
LIPE	3991	broad.mit.edu	37	19	42930578	42930578	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr19:42930578A>T	ENST00000244289.4	-	1	1000	c.724T>A	c.(724-726)Tca>Aca	p.S242T	LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	242					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCTGTGTCTGAAGATGATCCC	0.473																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(724-726)Tca>Aca		lipase, hormone-sensitive							117.0	115.0	116.0					19																	42930578		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42930578A>T	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.724T>A	19.37:g.42930578A>T	ENSP00000244289:p.Ser242Thr					LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	p.S242T	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			1	1000	-		Prostate(69;0.00682)	242					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.724T>A	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	A	7.671	0.686992	0.14973	.	.	ENSG00000079435	ENST00000244289	T	0.04119	3.7	3.58	2.52	0.30459	.	1.328570	0.05782	N	0.608744	T	0.05364	0.0142	L	0.50333	1.59	0.09310	N	1	B	0.32620	0.378	B	0.24006	0.05	T	0.44907	-0.9297	10	0.20519	T	0.43	0.5269	6.8275	0.23891	0.7606:0.2394:0.0:0.0	.	242	Q05469	LIPS_HUMAN	T	242	ENSP00000244289:S242T	ENSP00000244289:S242T	S	-	1	0	LIPE	47622418	0.000000	0.05858	0.001000	0.08648	0.172000	0.22775	0.375000	0.20518	0.683000	0.31428	0.533000	0.62120	TCA		0.473	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		41	59	0	0	0	1	0	41	59				
KIAA0196	9897	broad.mit.edu	37	8	126075804	126075804	+	Silent	SNP	G	G	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:126075804G>C	ENST00000318410.7	-	11	1717	c.1368C>G	c.(1366-1368)gtC>gtG	p.V456V	KIAA0196_ENST00000517845.1_Silent_p.V308V	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	456					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTCCTGAAAAGACATCAGCAA	0.423																																						ENST00000318410.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.(1366-1368)gtC>gtG		KIAA0196							156.0	144.0	148.0					8																	126075804		2203	4300	6503	SO:0001819	synonymous_variant	9897				cell death	WASH complex		g.chr8:126075804G>C		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1368C>G	8.37:g.126075804G>C						KIAA0196_ENST00000517845.1_Silent_p.V308V	p.V456V	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		11	1717	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		456					A8K4R7|Q3KQX5|Q8TBQ2	Silent	SNP	ENST00000318410.7	37	c.1368C>G	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	G	9.771	1.172675	0.21704	.	.	ENSG00000164961	ENST00000523273	.	.	.	5.83	4.96	0.65561	.	.	.	.	.	T	0.62732	0.2452	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61272	-0.7096	4	.	.	.	-24.6266	11.0386	0.47816	0.1411:0.0:0.8589:0.0	.	.	.	.	C	73	.	.	S	-	2	0	KIAA0196	126144986	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.239000	0.43079	1.485000	0.48380	0.561000	0.74099	TCT		0.423	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		58	126	0	0	0	1	0	58	126				
GJB2	2706	broad.mit.edu	37	13	20763400	20763400	+	Missense_Mutation	SNP	G	G	C	rs111033253		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr13:20763400G>C	ENST00000382844.1	-	1	519	c.321C>G	c.(319-321)atC>atG	p.I107M	GJB2_ENST00000382848.4_Missense_Mutation_p.I107M			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	107					cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		TCTCCCCCTTGATGAACTTCC	0.547									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000382844.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(319-321)atC>atG		gap junction protein, beta 2, 26kDa							101.0	94.0	96.0					13																	20763400		2203	4300	6503	SO:0001583	missense	0	Keratitis, Ichthyosis and Deafness syndrome	Familial Cancer Database	KID syndrome	cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane		g.chr13:20763400G>C	M86849	CCDS9290.1	13q11-q12	2010-01-06	2007-01-16		ENSG00000165474	ENSG00000165474		"""Ion channels / Gap junction proteins (connexins)"""	4284	protein-coding gene	gene with protein product	"""connexin 26"""	121011	"""gap junction protein, beta 2, 26kD (connexin 26)"", ""gap junction protein, beta 2, 26kDa (connexin 26)"""	DFNB1, DFNA3		9139825	Standard	NM_004004		Approved	CX26, NSRD1	uc001umy.3	P29033	OTTHUMG00000016513	ENST00000382844.1:c.321C>G	13.37:g.20763400G>C	ENSP00000372295:p.Ile107Met		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	743	GJB2_ENST00000382848.4_Missense_Mutation_p.I107M	p.I107M			P29033	CXB2_HUMAN		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)	1	519	-		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	107					Q508A5|Q508A6|Q5YLL0|Q5YLL1|Q5YLL4|Q6IPV5|Q86U88|Q96AK0|Q9H536|Q9NNY4	Missense_Mutation	SNP	ENST00000382844.1	37	c.321C>G	CCDS9290.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.294984	0.23564	.	.	ENSG00000165474	ENST00000382848;ENST00000382844	D;D	0.97529	-4.42;-4.42	5.33	-10.7	0.00240	.	0.279378	0.31167	N	0.008129	D	0.87341	0.6153	N	0.19112	0.55	0.20074	N	0.999932	B	0.02656	0.0	B	0.04013	0.001	T	0.73943	-0.3823	10	0.34782	T	0.22	.	1.7403	0.02951	0.4729:0.1573:0.1667:0.2032	.	107	P29033	CXB2_HUMAN	M	107	ENSP00000372299:I107M;ENSP00000372295:I107M	ENSP00000372295:I107M	I	-	3	3	GJB2	19661400	0.000000	0.05858	0.148000	0.22405	0.948000	0.59901	-1.824000	0.01708	-3.039000	0.00264	-0.137000	0.14449	ATC		0.547	GJB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044064.1			3	74	0	0	0	1	0	3	74				
GUSBP11	91316	broad.mit.edu	37	22	23981016	23981016	+	RNA	SNP	A	A	G	rs111645330	byFrequency	TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr22:23981016A>G	ENST00000455485.1	-	0	3473				AP000347.4_ENST00000430707.2_RNA|KB-1572G7.3_ENST00000390329.3_RNA			Q6P575	BGP11_HUMAN	glucuronidase, beta pseudogene 11						carbohydrate metabolic process (GO:0005975)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										CCAGGTCACCATCAAGATTCC	0.552													A|||	17	0.00339457	0.0	0.0029	5008	,	,		19500	0.0		0.008	False		,,,				2504	0.0072					ENST00000390329.2																			0																																																			0							g.chr22:23981016A>G			22q11.23	2011-06-09			ENSG00000228315	ENSG00000228315			42325	pseudogene	pseudogene							Standard	NR_024448		Approved		uc011aiz.2	Q6P575	OTTHUMG00000150709		22.37:g.23981016A>G						AP000347.4_ENST00000430707.2_RNA								0	112	-									RNA	SNP	ENST00000455485.1	37																																																																																						0.552	GUSBP11-005	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000319697.1			3	64	0	0	0	1	0	3	64				
COL14A1	7373	broad.mit.edu	37	8	121238908	121238908	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:121238908C>T	ENST00000297848.3	+	16	2177	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	COL14A1_ENST00000309791.4_Missense_Mutation_p.T636M|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.T541M|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATGAGGTGACGACAGACAGT	0.483																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(1906-1908)aCg>aTg		collagen, type XIV, alpha 1							95.0	86.0	89.0					8																	121238908		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121238908C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1907C>T	8.37:g.121238908C>T	ENSP00000297848:p.Thr636Met					COL14A1_ENST00000309791.4_Missense_Mutation_p.T636M|COL14A1_ENST00000247781.3_Missense_Mutation_p.T541M|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR	p.T636M	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		16	2177	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		636		T -> A (in dbSNP:rs56815167).	Fibronectin type-III 5.			Missense_Mutation	SNP	ENST00000297848.3	37	c.1907C>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568018	0.45798	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.63	3.62	0.41486	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.549752	0.18638	N	0.135373	T	0.61060	0.2317	M	0.82517	2.595	0.80722	D	1	B;B	0.22851	0.076;0.036	B;B	0.19946	0.027;0.015	T	0.59783	-0.7389	10	0.59425	D	0.04	.	12.8014	0.57588	0.4222:0.5778:0.0:0.0	.	636;636	Q05707-2;Q05707	.;COEA1_HUMAN	M	636;636;541;449	ENSP00000311809:T636M;ENSP00000297848:T636M;ENSP00000247781:T541M;ENSP00000409461:T449M	ENSP00000247781:T541M	T	+	2	0	COL14A1	121308089	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	1.518000	0.35877	0.512000	0.28257	0.557000	0.71058	ACG		0.483	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		25	51	0	0	0	1	0	25	51				
TCP10L2	401285	broad.mit.edu	37	6	167592524	167592524	+	Missense_Mutation	SNP	T	T	C	rs2989545	byFrequency	TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr6:167592524T>C	ENST00000366832.2	+	6	814	c.683T>C	c.(682-684)cTg>cCg	p.L228P		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	228										endometrium(1)|kidney(2)|lung(3)	6						TCCCGAAGTCTGCAAAACTCC	0.602																																						ENST00000366832.2																			0				endometrium(1)|kidney(2)|lung(3)	6						c.(682-684)cTg>cCg		t-complex 10-like 2							22.0	25.0	24.0					6																	167592524		692	1586	2278	SO:0001583	missense	401285							g.chr6:167592524T>C		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.683T>C	6.37:g.167592524T>C	ENSP00000355797:p.Leu228Pro						p.L228P	NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN			6	814	+			228						Missense_Mutation	SNP	ENST00000366832.2	37	c.683T>C	CCDS47514.1	.	.	.	.	.	.	.	.	.	.	N	3.564	-0.089011	0.07097	.	.	ENSG00000166984	ENST00000366832	T	0.19669	2.13	1.87	0.683	0.17998	.	.	.	.	.	T	0.03095	0.0091	N	0.11201	0.11	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40496	-0.9560	8	0.48119	T	0.1	.	5.4648	0.16637	0.0:0.1826:0.0:0.8174	rs2989545;rs59337236	228	B9ZVM9	TCP2L_HUMAN	P	228	ENSP00000355797:L228P	ENSP00000283507:L228P	L	+	2	0	TCP10L2	167512514	0.002000	0.14202	0.006000	0.13384	0.011000	0.07611	0.093000	0.15086	-0.165000	0.10908	-1.687000	0.00730	CTG		0.602	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		3	31	0	0	0	1	0	3	31				
KCNB2	9312	broad.mit.edu	37	8	73849082	73849082	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:73849082G>C	ENST00000523207.1	+	3	2080	c.1492G>C	c.(1492-1494)Gct>Cct	p.A498P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	498					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GGCCAGGAAGGCTCTGTCGGA	0.542																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1492-1494)Gct>Cct		potassium voltage-gated channel, Shab-related subfamily, member 2							106.0	115.0	112.0					8																	73849082		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849082G>C	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1492G>C	8.37:g.73849082G>C	ENSP00000430846:p.Ala498Pro						p.A498P	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2080	+	Breast(64;0.137)		498					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1492G>C	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268005	0.23136	.	.	ENSG00000182674	ENST00000523207	T	0.28255	1.62	5.47	5.47	0.80525	.	0.790783	0.10624	N	0.653040	T	0.37679	0.1012	L	0.29908	0.895	0.23341	N	0.997878	P	0.48834	0.916	P	0.57846	0.828	T	0.17592	-1.0364	10	0.33141	T	0.24	.	9.6152	0.39687	0.1607:0.0:0.8393:0.0	.	498	Q92953	KCNB2_HUMAN	P	498	ENSP00000430846:A498P	ENSP00000430846:A498P	A	+	1	0	KCNB2	74011636	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.679000	0.54634	2.553000	0.86117	0.655000	0.94253	GCT		0.542	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		36	94	0	0	0	1	0	36	94				
PRKAR1A	5573	broad.mit.edu	37	17	66525030	66525030	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:66525030A>T	ENST00000589228.1	+	9	917	c.789A>T	c.(787-789)gaA>gaT	p.E263D	PRKAR1A_ENST00000392711.1_Missense_Mutation_p.E263D|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.E263D|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.E263D|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.E263D|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.E263D	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	263					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					ACAAGTGGGAACGTCTTACGG	0.398			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	ENST00000589228.1			yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""T, Mis, N, F, S"""	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""			"""E, M"""	RET	"""myxoma, endocrine, papillary thyroid"""	papillary thyroid		0				adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31						c.(787-789)gaA>gaT		protein kinase, cAMP-dependent, regulatory, type I, alpha							161.0	154.0	157.0					17																	66525030		2203	4300	6503	SO:0001583	missense	5573	Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	g.chr17:66525030A>T		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.789A>T	17.37:g.66525030A>T	ENSP00000464977:p.Glu263Asp					PRKAR1A_ENST00000536854.2_Missense_Mutation_p.E263D|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.E263D|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.E263D|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.E263D|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.E263D	p.E263D	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN			9	917	+	Breast(10;1.64e-13)		263					K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	37	c.789A>T	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.402891	0.83230	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	T;T;T	0.73789	-0.78;-0.78;-0.78	5.89	-2.22	0.06952	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.84964	0.5589	M	0.86343	2.81	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.68483	0.958;0.958	D	0.86065	0.1534	10	0.62326	D	0.03	-31.0568	14.6562	0.68835	0.2169:0.0:0.7831:0.0	.	263;263	B2R5T5;P10644	.;KAP0_HUMAN	D	263	ENSP00000351410:E263D;ENSP00000376475:E263D;ENSP00000445625:E263D	ENSP00000351410:E263D	E	+	3	2	PRKAR1A	64036625	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	1.493000	0.35605	-0.343000	0.08351	-0.256000	0.11100	GAA		0.398	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			13	115	0	0	0	1	0	13	115				
CPNE2	221184	broad.mit.edu	37	16	57147304	57147304	+	Silent	SNP	C	C	G			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr16:57147304C>G	ENST00000535318.2	+	4	646	c.285C>G	c.(283-285)ctC>ctG	p.L95L	CPNE2_ENST00000565874.1_Silent_p.L95L|CPNE2_ENST00000290776.8_Silent_p.L95L|CPNE2_ENST00000537605.1_5'UTR			Q96FN4	CPNE2_HUMAN	copine II	95	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				AGTTCGCGCTCTTTGACCAGG	0.582																																						ENST00000535318.2																			0				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21						c.(283-285)ctC>ctG		copine II							122.0	93.0	103.0					16																	57147304		2198	4300	6498	SO:0001819	synonymous_variant	221184							g.chr16:57147304C>G		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.285C>G	16.37:g.57147304C>G						CPNE2_ENST00000537605.1_5'UTR|CPNE2_ENST00000565874.1_Silent_p.L95L|CPNE2_ENST00000290776.8_Silent_p.L95L	p.L95L			Q96FN4	CPNE2_HUMAN			4	646	+		all_neural(199;0.224)	95			C2 1.		Q68D19|Q719H8|Q86XP9	Silent	SNP	ENST00000535318.2	37	c.285C>G	CCDS10774.1																																																																																				0.582	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		9	53	0	0	0	1	0	9	53				
ABTB2	25841	broad.mit.edu	37	11	34182569	34182569	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:34182569G>A	ENST00000435224.2	-	11	2702	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	ABTB2_ENST00000298992.2_Missense_Mutation_p.R574W	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	760					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				ACCGAGTACCGCGACTGCGAG	0.617																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(2278-2280)Cgg>Tgg		ankyrin repeat and BTB (POZ) domain containing 2							75.0	62.0	66.0					11																	34182569		2202	4298	6500	SO:0001583	missense	25841						DNA binding	g.chr11:34182569G>A	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2278C>T	11.37:g.34182569G>A	ENSP00000410157:p.Arg760Trp					ABTB2_ENST00000298992.2_Missense_Mutation_p.R574W	p.R760W	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			11	2702	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	574					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.2278C>T	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834209	0.71373	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.63255	-0.02;-0.03	5.15	3.23	0.37069	.	0.051879	0.64402	D	0.000001	T	0.73583	0.3605	M	0.72894	2.215	0.51767	D	0.999935	D	0.89917	1.0	P	0.59288	0.855	T	0.76152	-0.3064	10	0.66056	D	0.02	-17.1433	14.1645	0.65469	0.0:0.0:0.7272:0.2728	.	574	Q8N961	ABTB2_HUMAN	W	760;574	ENSP00000410157:R760W;ENSP00000298992:R574W	ENSP00000298992:R574W	R	-	1	2	ABTB2	34139145	0.998000	0.40836	0.617000	0.29091	0.989000	0.77384	2.741000	0.47426	0.538000	0.28769	0.561000	0.74099	CGG		0.617	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		3	21	0	0	0	1	0	3	21				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			29	85	0	0	0	1	0	29	85				
AOAH	313	broad.mit.edu	37	7	36570027	36570027	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr7:36570027C>A	ENST00000258749.5	-	19	1918	c.1519G>T	c.(1519-1521)Gaa>Taa	p.E507*	AOAH_ENST00000491444.1_5'Flank|AOAH_ENST00000535891.1_Nonsense_Mutation_p.E475*|AOAH_ENST00000431169.1_Nonsense_Mutation_p.E507*|AOAH_ENST00000538464.1_Nonsense_Mutation_p.E229*	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	507					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TACTTACTTTCATGGAAGGCA	0.408																																						ENST00000431169.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						c.(1519-1521)Gaa>Taa		acyloxyacyl hydrolase (neutrophil)							86.0	83.0	84.0					7																	36570027		2202	4300	6502	SO:0001587	stop_gained	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36570027C>A	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.1519G>T	7.37:g.36570027C>A	ENSP00000258749:p.Glu507*					AOAH_ENST00000535891.1_Nonsense_Mutation_p.E475*|AOAH_ENST00000258749.5_Nonsense_Mutation_p.E507*|AOAH_ENST00000538464.1_Nonsense_Mutation_p.E229*	p.E507*	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN			19	1819	-			507					A4D1Y5|B7Z490|Q53F13	Nonsense_Mutation	SNP	ENST00000258749.5	37	c.1519G>T	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186894	0.94923	.	.	ENSG00000136250	ENST00000538464;ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	.	.	.	5.6	5.6	0.85130	.	0.417340	0.25117	N	0.033003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	15.4832	0.75545	0.0:1.0:0.0:0.0	.	.	.	.	X	229;475;507;507;507	.	ENSP00000258749:E507X	E	-	1	0	AOAH	36536552	0.776000	0.28616	1.000000	0.80357	0.885000	0.51271	0.717000	0.25851	2.818000	0.97014	0.655000	0.94253	GAA		0.408	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		4	71	1	0	0.150653	1	0.150653	4	71				
PCNT	5116	broad.mit.edu	37	21	47754527	47754527	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr21:47754527A>G	ENST00000359568.5	+	3	591	c.484A>G	c.(484-486)Agt>Ggt	p.S162G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	162					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTTCACAGTCAGTGACCACCC	0.552																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(484-486)Agt>Ggt		pericentrin							206.0	129.0	155.0					21																	47754527		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754527A>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.484A>G	21.37:g.47754527A>G	ENSP00000352572:p.Ser162Gly					PCNT_ENST00000480896.1_3'UTR	p.S162G	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			3	591	+	Breast(49;0.112)		162					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.484A>G	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	a	0.030	-1.341863	0.01277	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01705	4.68	0.235	0.235	0.15431	.	.	.	.	.	T	0.02767	0.0083	L	0.36672	1.1	0.09310	N	1	P;P	0.46395	0.877;0.805	P;P	0.51866	0.682;0.483	T	0.50215	-0.8854	8	0.25751	T	0.34	.	.	.	.	.	44;162	O95613-2;O95613	.;PCNT_HUMAN	G	162;149	ENSP00000352572:S162G	ENSP00000338675:S149G	S	+	1	0	PCNT	46578955	0.036000	0.19791	0.005000	0.12908	0.005000	0.04900	1.077000	0.30741	0.263000	0.21812	0.260000	0.18958	AGT		0.552	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		4	133	0	0	0	1	0	4	133				
GJB2	2706	broad.mit.edu	37	13	20763148	20763148	+	Silent	SNP	G	G	A			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr13:20763148G>A	ENST00000382844.1	-	1	771	c.573C>T	c.(571-573)ttC>ttT	p.F191F	GJB2_ENST00000382848.4_Silent_p.F191F			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	191			F -> L. {ECO:0000269|PubMed:12560944}.		cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		TGAACACTGTGAAGACAGTCT	0.488									Keratitis, Ichthyosis and Deafness syndrome																													ENST00000382844.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(571-573)ttC>ttT		gap junction protein, beta 2, 26kDa							56.0	55.0	55.0					13																	20763148		2203	4300	6503	SO:0001819	synonymous_variant	0	Keratitis, Ichthyosis and Deafness syndrome	Familial Cancer Database	KID syndrome	cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane		g.chr13:20763148G>A	M86849	CCDS9290.1	13q11-q12	2010-01-06	2007-01-16		ENSG00000165474	ENSG00000165474		"""Ion channels / Gap junction proteins (connexins)"""	4284	protein-coding gene	gene with protein product	"""connexin 26"""	121011	"""gap junction protein, beta 2, 26kD (connexin 26)"", ""gap junction protein, beta 2, 26kDa (connexin 26)"""	DFNB1, DFNA3		9139825	Standard	NM_004004		Approved	CX26, NSRD1	uc001umy.3	P29033	OTTHUMG00000016513	ENST00000382844.1:c.573C>T	13.37:g.20763148G>A						GJB2_ENST00000382848.4_Silent_p.F191F	p.F191F			P29033	CXB2_HUMAN		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)	1	771	-		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	191		F -> L.			Q508A5|Q508A6|Q5YLL0|Q5YLL1|Q5YLL4|Q6IPV5|Q86U88|Q96AK0|Q9H536|Q9NNY4	Silent	SNP	ENST00000382844.1	37	c.573C>T	CCDS9290.1																																																																																				0.488	GJB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044064.1			4	66	0	0	0	1	0	4	66				
AKAP4	8852	broad.mit.edu	37	X	49957504	49957504	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chrX:49957504G>C	ENST00000376056.2	-	5	1983	c.1833C>G	c.(1831-1833)gaC>gaG	p.D611E	AKAP4_ENST00000358526.2_Missense_Mutation_p.D620E|AKAP4_ENST00000376064.3_Missense_Mutation_p.D611E|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.D237E					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTTTCTGGGAGTCCAGGTGTT	0.463																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(1831-1833)gaC>gaG		A kinase (PRKA) anchor protein 4							140.0	119.0	126.0					X																	49957504		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957504G>C	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1833C>G	X.37:g.49957504G>C	ENSP00000365224:p.Asp611Glu					AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.D237E|AKAP4_ENST00000358526.2_Missense_Mutation_p.D620E|AKAP4_ENST00000376064.3_Missense_Mutation_p.D611E	p.D611E			Q5JQC9	AKAP4_HUMAN			5	1983	-	Ovarian(276;0.236)		620						Missense_Mutation	SNP	ENST00000376056.2	37	c.1833C>G	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.566190	0.00134	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	5.14	1.52	0.23074	A-kinase anchor 110kDa, C-terminal (1);	0.447175	0.20746	N	0.086457	T	0.04543	0.0124	N	0.16201	0.385	0.09310	N	1	B;B	0.25007	0.005;0.116	B;B	0.32393	0.015;0.145	T	0.44112	-0.9349	9	.	.	.	-4.0148	4.3736	0.11260	0.2818:0.1723:0.5458:0.0	.	620;237	Q5JQC9;A6ND82	AKAP4_HUMAN;.	E	611;237;620;611	ENSP00000365224:D611E;ENSP00000365226:D237E;ENSP00000351327:D620E;ENSP00000365232:D611E	.	D	-	3	2	AKAP4	49844244	1.000000	0.71417	0.008000	0.14137	0.052000	0.14988	0.994000	0.29693	-0.125000	0.11703	0.525000	0.51046	GAC		0.463	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		9	208	0	0	0	1	0	9	208				
NOM1	64434	broad.mit.edu	37	7	156742958	156742958	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr7:156742958T>C	ENST00000275820.3	+	1	542	c.527T>C	c.(526-528)tTa>tCa	p.L176S		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	176	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CGGGCGCTTTTAGCGGCGAAC	0.672																																						ENST00000275820.3																			0				endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(526-528)tTa>tCa		nucleolar protein with MIF4G domain 1							40.0	49.0	46.0					7																	156742958		2197	4294	6491	SO:0001583	missense	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156742958T>C	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.527T>C	7.37:g.156742958T>C	ENSP00000275820:p.Leu176Ser						p.L176S	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	1	542	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	176			Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.		Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	c.527T>C	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.417317	0.62622	.	.	ENSG00000146909	ENST00000275820	T	0.12255	2.7	4.19	3.02	0.34903	.	0.090425	0.46442	D	0.000298	T	0.26159	0.0638	M	0.64997	1.995	0.58432	D	0.999991	D	0.89917	1.0	D	0.72075	0.976	T	0.17868	-1.0355	10	0.08837	T	0.75	-11.8879	9.6184	0.39706	0.0:0.0837:0.0:0.9163	.	176	Q5C9Z4	NOM1_HUMAN	S	176	ENSP00000275820:L176S	ENSP00000275820:L176S	L	+	2	0	NOM1	156435719	1.000000	0.71417	0.946000	0.38457	0.987000	0.75469	4.043000	0.57354	0.645000	0.30675	0.529000	0.55759	TTA		0.672	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		18	62	0	0	0	1	0	18	62				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	92	0	0	0	1	0	4	92				
LLGL2	3993	broad.mit.edu	37	17	73567818	73567818	+	Silent	SNP	G	G	A			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:73567818G>A	ENST00000392550.3	+	18	2364	c.2247G>A	c.(2245-2247)gtG>gtA	p.V749V	LLGL2_ENST00000167462.5_Silent_p.V749V|LLGL2_ENST00000577200.1_Silent_p.V749V	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	749					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCCTGCGTGTGCCTCCCGCCG	0.672																																						ENST00000392550.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2245-2247)gtG>gtA		lethal giant larvae homolog 2 (Drosophila)							33.0	33.0	33.0					17																	73567818		2203	4300	6503	SO:0001819	synonymous_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73567818G>A	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2247G>A	17.37:g.73567818G>A						LLGL2_ENST00000577200.1_Silent_p.V749V|LLGL2_ENST00000167462.5_Silent_p.V749V	p.V749V	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		18	2364	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		749					Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	37	c.2247G>A	CCDS32733.1																																																																																				0.672	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		7	72	0	0	0	1	0	7	72				
PLD1	5337	broad.mit.edu	37	3	171427368	171427368	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr3:171427368T>C	ENST00000351298.4	-	10	1169	c.1043A>G	c.(1042-1044)gAg>gGg	p.E348G	PLD1_ENST00000356327.5_Missense_Mutation_p.E348G|PLD1_ENST00000340989.4_Missense_Mutation_p.E348G|PLD1_ENST00000342215.6_Missense_Mutation_p.E348G	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	348					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TAAAGCATTCTCTTGGATAGC	0.413																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(1042-1044)gAg>gGg		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						154.0	143.0	147.0					3																	171427368		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171427368T>C	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1043A>G	3.37:g.171427368T>C	ENSP00000342793:p.Glu348Gly					PLD1_ENST00000340989.4_Missense_Mutation_p.E348G|PLD1_ENST00000351298.4_Missense_Mutation_p.E348G|PLD1_ENST00000342215.6_Missense_Mutation_p.E348G	p.E348G	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		10	1113	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		348						Missense_Mutation	SNP	ENST00000351298.4	37	c.1043A>G	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.478742	0.44044	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.5	4.35	0.52113	.	0.315337	0.37623	N	0.002009	T	0.23649	0.0572	M	0.71581	2.175	0.53688	D	0.999978	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.03017	-1.1082	10	0.33141	T	0.24	-9.1155	10.4718	0.44642	0.0:0.078:0.0:0.922	.	371;348	Q59EA4;Q13393	.;PLD1_HUMAN	G	348	ENSP00000348681:E348G;ENSP00000342793:E348G;ENSP00000339936:E348G;ENSP00000340326:E348G	ENSP00000340326:E348G	E	-	2	0	PLD1	172910062	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	4.582000	0.60957	0.918000	0.36919	0.460000	0.39030	GAG		0.413	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		34	84	0	0	0	1	0	34	84				
PITPNM1	9600	broad.mit.edu	37	11	67269773	67269773	+	Silent	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:67269773C>T	ENST00000534749.1	-	3	593	c.405G>A	c.(403-405)caG>caA	p.Q135Q	PITPNM1_ENST00000436757.2_Silent_p.Q135Q|PITPNM1_ENST00000356404.3_Silent_p.Q135Q			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	135					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCAGGATGCGCTGTCTCCTCT	0.612																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(403-405)caG>caA		phosphatidylinositol transfer protein, membrane-associated 1							56.0	55.0	55.0					11																	67269773		2200	4295	6495	SO:0001819	synonymous_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67269773C>T	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.405G>A	11.37:g.67269773C>T						PITPNM1_ENST00000534749.1_Silent_p.Q135Q|PITPNM1_ENST00000436757.2_Silent_p.Q135Q	p.Q135Q	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			4	630	-			135					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	c.405G>A	CCDS31620.1																																																																																				0.612	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		23	53	0	0	0	1	0	23	53				
LAMA1	284217	broad.mit.edu	37	18	6986294	6986294	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr18:6986294C>T	ENST00000389658.3	-	37	5314	c.5221G>A	c.(5221-5223)Gaa>Aaa	p.E1741K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1741	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TCCAATTCTTCCAGCGGCTTC	0.428																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(5221-5223)Gaa>Aaa		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						103.0	95.0	98.0					18																	6986294		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6986294C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5221G>A	18.37:g.6986294C>T	ENSP00000374309:p.Glu1741Lys						p.E1741K	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			37	5314	-		Colorectal(10;0.172)	1741			Domain II and I.			Missense_Mutation	SNP	ENST00000389658.3	37	c.5221G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	c	0.111	-1.138751	0.01742	.	.	ENSG00000101680	ENST00000389658	T	0.11385	2.78	5.5	-0.0174	0.13968	Laminin I (1);	0.439500	0.24769	N	0.035748	T	0.07999	0.0200	L	0.51422	1.61	0.28015	N	0.934753	B	0.11235	0.004	B	0.12156	0.007	T	0.42032	-0.9475	10	0.09590	T	0.72	.	7.5063	0.27547	0.0:0.3143:0.4485:0.2373	.	1741	P25391	LAMA1_HUMAN	K	1741	ENSP00000374309:E1741K	ENSP00000374309:E1741K	E	-	1	0	LAMA1	6976294	1.000000	0.71417	0.478000	0.27316	0.042000	0.13812	1.848000	0.39309	0.103000	0.17682	0.650000	0.86243	GAA		0.428	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		4	94	0	0	0	1	0	4	94				
GABRA1	2554	broad.mit.edu	37	5	161324271	161324271	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr5:161324271A>T	ENST00000428797.2	+	11	1569	c.1214A>T	c.(1213-1215)aAa>aTa	p.K405I	GABRA1_ENST00000393943.4_Missense_Mutation_p.K405I|GABRA1_ENST00000444819.1_Missense_Mutation_p.K405I|GABRA1_ENST00000420560.1_Missense_Mutation_p.K405I|GABRA1_ENST00000023897.6_Missense_Mutation_p.K405I|GABRA1_ENST00000437025.2_Missense_Mutation_p.K405I	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	405					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCCGAAACAAAACCACCAGAA	0.473																																						ENST00000428797.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1213-1215)aAa>aTa		gamma-aminobutyric acid (GABA) A receptor, alpha 1	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						142.0	142.0	142.0					5																	161324271		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161324271A>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1214A>T	5.37:g.161324271A>T	ENSP00000393097:p.Lys405Ile					GABRA1_ENST00000393943.4_Missense_Mutation_p.K405I|GABRA1_ENST00000437025.2_Missense_Mutation_p.K405I|GABRA1_ENST00000023897.6_Missense_Mutation_p.K405I|GABRA1_ENST00000420560.1_Missense_Mutation_p.K405I|GABRA1_ENST00000444819.1_Missense_Mutation_p.K405I	p.K405I	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	11	1569	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	405					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.1214A>T	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.459302	0.63401	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.097947	0.64402	D	0.000002	D	0.85986	0.5825	M	0.64404	1.975	0.80722	D	1	B	0.22003	0.063	B	0.23018	0.043	D	0.83522	0.0086	10	0.51188	T	0.08	.	15.5691	0.76320	1.0:0.0:0.0:0.0	.	405	P14867	GBRA1_HUMAN	I	405	ENSP00000023897:K405I;ENSP00000393097:K405I;ENSP00000377517:K405I;ENSP00000415441:K405I;ENSP00000408041:K405I;ENSP00000414232:K405I	ENSP00000023897:K405I	K	+	2	0	GABRA1	161256849	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	8.850000	0.92190	2.134000	0.65973	0.460000	0.39030	AAA		0.473	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		5	118	0	0	0	1	0	5	118				
CPSF7	79869	broad.mit.edu	37	11	61183777	61183777	+	Silent	SNP	A	A	G			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:61183777A>G	ENST00000394888.4	-	6	937	c.765T>C	c.(763-765)ccT>ccC	p.P255P	CPSF7_ENST00000448745.1_Silent_p.P246P|CPSF7_ENST00000340437.4_Silent_p.P298P|CPSF7_ENST00000439958.3_Silent_p.P246P	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	255	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GAGGAGGAGGAGGGACCCCAA	0.617																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(892-894)ccT>ccC		cleavage and polyadenylation specific factor 7, 59kDa							45.0	49.0	48.0					11																	61183777		2202	4299	6501	SO:0001819	synonymous_variant	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183777A>G		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.765T>C	11.37:g.61183777A>G						CPSF7_ENST00000448745.1_Silent_p.P246P|CPSF7_ENST00000394888.4_Silent_p.P255P|CPSF7_ENST00000439958.3_Silent_p.P246P	p.P298P	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			6	974	-			255			Pro-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Silent	SNP	ENST00000394888.4	37	c.894T>C	CCDS44619.1																																																																																				0.617	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		3	68	0	0	0	1	0	3	68				
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443																																						ENST00000429810.2																			0																																																			0							g.chr16:74372644A>G																													16.37:g.74372644A>G														0	1552	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.443	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			3	37	0	0	0	1	0	3	37				
SLC6A4	6532	broad.mit.edu	37	17	28545875	28545875	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:28545875C>T	ENST00000401766.2	-	3	930	c.418G>A	c.(418-420)Gga>Aga	p.G140R	SLC6A4_ENST00000261707.3_Missense_Mutation_p.G140R			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	140					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	TGGTACTGTCCCAGTGCGAGC	0.507																																						ENST00000401766.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(418-420)Gga>Aga		solute carrier family 6 (neurotransmitter transporter), member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						132.0	128.0	129.0					17																	28545875		2203	4300	6503	SO:0001583	missense	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28545875C>T	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.418G>A	17.37:g.28545875C>T	ENSP00000385822:p.Gly140Arg					SLC6A4_ENST00000261707.3_Missense_Mutation_p.G140R	p.G140R			P31645	SC6A4_HUMAN			3	930	-			140					Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	c.418G>A	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	C	34	5.307305	0.95629	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	D;D	0.97924	-4.61;-4.61	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.99254	0.9740	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98931	1.0787	10	0.87932	D	0	.	18.8371	0.92167	0.0:1.0:0.0:0.0	.	140	P31645	SC6A4_HUMAN	R	182;140;140	ENSP00000385822:G140R;ENSP00000261707:G140R	ENSP00000261707:G140R	G	-	1	0	SLC6A4	25570001	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.814000	0.86154	2.689000	0.91719	0.655000	0.94253	GGA		0.507	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		64	140	0	0	0	1	0	64	140				
SDK2	54549	broad.mit.edu	37	17	71418471	71418471	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:71418471G>A	ENST00000392650.3	-	15	2000	c.2000C>T	c.(1999-2001)gCc>gTc	p.A667V	SDK2_ENST00000388726.3_Missense_Mutation_p.A667V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	667	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTCGTTGACGGCACAAAGACG	0.617																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(1999-2001)gCc>gTc		sidekick cell adhesion molecule 2							148.0	119.0	129.0					17																	71418471		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71418471G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2000C>T	17.37:g.71418471G>A	ENSP00000376421:p.Ala667Val					SDK2_ENST00000388726.3_Missense_Mutation_p.A667V	p.A667V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			15	2000	-			667			Fibronectin type-III 1.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.2000C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264479	0.95399	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	T;T	0.68624	-0.34;-0.34	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87981	0.6315	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.91978	0.5592	10	0.87932	D	0	.	18.1572	0.89696	0.0:0.0:1.0:0.0	.	667;667	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	V	291;667;667;667	ENSP00000376421:A667V;ENSP00000373378:A667V	ENSP00000324967:A667V	A	-	2	0	SDK2	68930066	1.000000	0.71417	0.946000	0.38457	0.939000	0.58152	9.388000	0.97237	2.373000	0.80994	0.462000	0.41574	GCC		0.617	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		4	82	0	0	0	1	0	4	82				
MCTP2	55784	broad.mit.edu	37	15	94841633	94841633	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr15:94841633C>T	ENST00000357742.4	+	1	139	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.R47C|MCTP2_ENST00000543482.1_Missense_Mutation_p.R47C	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	47					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CTTGGACCGCCGTCTCAGCCT	0.592																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(139-141)Cgt>Tgt		multiple C2 domains, transmembrane 2							63.0	66.0	65.0					15																	94841633		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94841633C>T	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.139C>T	15.37:g.94841633C>T	ENSP00000350377:p.Arg47Cys					MCTP2_ENST00000451018.3_Missense_Mutation_p.R47C|MCTP2_ENST00000543482.1_Missense_Mutation_p.R47C|MCTP2_ENST00000331706.4_5'UTR	p.R47C	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		1	139	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		47					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.139C>T	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079955	0.55753	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.71934	-0.61;-0.32;-0.15	5.17	4.24	0.50183	.	0.000000	0.51477	D	0.000091	T	0.72637	0.3485	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;0.997;0.999;1.0	P;P;P;P;D	0.63703	0.721;0.897;0.745;0.745;0.917	T	0.74269	-0.3720	10	0.87932	D	0	.	9.4183	0.38534	0.1453:0.7779:0.0:0.0768	.	47;47;47;47;47	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	C	47	ENSP00000438521:R47C;ENSP00000395109:R47C;ENSP00000350377:R47C	ENSP00000350377:R47C	R	+	1	0	MCTP2	92642637	0.671000	0.27521	0.957000	0.39632	0.392000	0.30506	1.338000	0.33873	1.161000	0.42604	0.655000	0.94253	CGT		0.592	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		6	54	0	0	0	1	0	6	54				
HEPHL1	341208	broad.mit.edu	37	11	93822035	93822035	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:93822035T>C	ENST00000315765.9	+	12	2203	c.2195T>C	c.(2194-2196)aTa>aCa	p.I732T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	732	Plastocyanin-like 5.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TACGGGATGATAAGAACTTTT	0.517																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(2194-2196)aTa>aCa		hephaestin-like 1							89.0	90.0	90.0					11																	93822035		1930	4146	6076	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93822035T>C	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2195T>C	11.37:g.93822035T>C	ENSP00000313699:p.Ile732Thr						p.I732T	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			12	2203	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	732			Plastocyanin-like 5.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.2195T>C	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	T	8.590	0.884364	0.17467	.	.	ENSG00000181333	ENST00000315765	D	0.98889	-5.21	5.53	4.36	0.52297	Cupredoxin (2);	0.372522	0.32736	N	0.005716	D	0.92954	0.7758	N	0.03029	-0.43	0.29173	N	0.876999	B	0.06786	0.001	B	0.06405	0.002	D	0.85993	0.1490	10	0.14252	T	0.57	.	11.9019	0.52688	0.1302:0.0:0.0:0.8698	.	732	Q6MZM0	HPHL1_HUMAN	T	732	ENSP00000313699:I732T	ENSP00000313699:I732T	I	+	2	0	HEPHL1	93461683	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.197000	0.58413	2.103000	0.63969	0.374000	0.22700	ATA		0.517	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		23	65	0	0	0	1	0	23	65				
LOC728715	728715	broad.mit.edu	37	12	9717870	9717870	+	RNA	SNP	A	A	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr12:9717870A>T	ENST00000520314.1	+	0	4299																											CCAACGGATGAATTCCCATGG	0.448																																						ENST00000520314.1																			0																																																			0							g.chr12:9717870A>T																													12.37:g.9717870A>T														0	4299	+									RNA	SNP	ENST00000520314.1	37																																																																																						0.448	RP11-726G1.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000381543.1			16	16	0	0	0	1	0	16	16				
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs532197977		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:45128685T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TTCCAGGATATGGCTATACTG	0.303																																						ENST00000575173.1																			0																																																			0							g.chr17:45128685T>C																													17.37:g.45128685T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.303	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	130	0	0	0	1	0	5	130				
KLHL13	90293	broad.mit.edu	37	X	117032912	117032912	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chrX:117032912T>G	ENST00000262820.3	-	7	2836	c.1927A>C	c.(1927-1929)Aca>Cca	p.T643P	KLHL13_ENST00000545703.1_Missense_Mutation_p.T601P|KLHL13_ENST00000539496.1_Missense_Mutation_p.T646P|KLHL13_ENST00000469946.1_Missense_Mutation_p.T592P|KLHL13_ENST00000371876.1_Missense_Mutation_p.T592P|KLHL13_ENST00000371878.1_Missense_Mutation_p.T592P|KLHL13_ENST00000541812.1_Missense_Mutation_p.T627P|KLHL13_ENST00000371882.1_Missense_Mutation_p.T592P|KLHL13_ENST00000540167.1_Missense_Mutation_p.T627P	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	643					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGTGATGGTGTGGTTTCTTCT	0.418																																						ENST00000371876.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(1774-1776)Aca>Cca		kelch-like family member 13							196.0	179.0	184.0					X																	117032912		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117032912T>G	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1927A>C	X.37:g.117032912T>G	ENSP00000262820:p.Thr643Pro					KLHL13_ENST00000371882.1_Missense_Mutation_p.T592P|KLHL13_ENST00000469946.1_Missense_Mutation_p.T592P|KLHL13_ENST00000541812.1_Missense_Mutation_p.T627P|KLHL13_ENST00000371878.1_Missense_Mutation_p.T592P|KLHL13_ENST00000540167.1_Missense_Mutation_p.T627P|KLHL13_ENST00000539496.1_Missense_Mutation_p.T646P|KLHL13_ENST00000545703.1_Missense_Mutation_p.T601P|KLHL13_ENST00000262820.3_Missense_Mutation_p.T643P	p.T592P			Q9P2N7	KLH13_HUMAN			6	4195	-			643					B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.1774A>C	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	T	7.982	0.751327	0.15778	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.71103	-0.53;-0.53;-0.53;-0.53;-0.44;-0.44;-0.54;-0.54;-0.53;-0.53	5.25	4.09	0.47781	.	.	.	.	.	T	0.46171	0.1379	N	0.08118	0	0.33184	D	0.550005	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.50923	-0.8770	9	0.23302	T	0.38	.	6.844	0.23979	0.1413:0.0877:0.0:0.771	.	627;646;637;643	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	P	592;592;592;592;627;627;646;643;601;592	ENSP00000360949:T592P;ENSP00000360943:T592P;ENSP00000360945:T592P;ENSP00000412640:T592P;ENSP00000444450:T627P;ENSP00000441029:T627P;ENSP00000443191:T646P;ENSP00000262820:T643P;ENSP00000440707:T601P;ENSP00000419803:T592P	ENSP00000262820:T643P	T	-	1	0	KLHL13	116916940	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.486000	0.45259	1.931000	0.55961	0.486000	0.48141	ACA		0.418	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		12	135	0	0	0	1	0	12	135				
APBB2	323	broad.mit.edu	37	4	41015610	41015610	+	Silent	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr4:41015610C>T	ENST00000295974.8	-	6	1454	c.825G>A	c.(823-825)ccG>ccA	p.P275P	APBB2_ENST00000506352.1_Silent_p.P275P|APBB2_ENST00000513140.1_Silent_p.P275P|APBB2_ENST00000508593.1_Silent_p.P275P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	275					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTGTTTCATCCGGGGAGCTGG	0.512																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(823-825)ccG>ccA		amyloid beta (A4) precursor protein-binding, family B, member 2							133.0	131.0	132.0					4																	41015610		1970	4149	6119	SO:0001819	synonymous_variant	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:41015610C>T	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.825G>A	4.37:g.41015610C>T						APBB2_ENST00000508593.1_Silent_p.P275P|APBB2_ENST00000506352.1_Silent_p.P275P|APBB2_ENST00000513140.1_Silent_p.P275P	p.P275P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			6	1454	-			275					B4DSL4|E9PG87|Q8IUI6	Silent	SNP	ENST00000295974.8	37	c.825G>A	CCDS54761.1	.	.	.	.	.	.	.	.	.	.	C	0.127	-1.118483	0.01785	.	.	ENSG00000163697	ENST00000513611	.	.	.	6.04	-4.8	0.03190	.	.	.	.	.	T	0.46541	0.1398	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43893	-0.9363	4	.	.	.	-13.3558	5.2636	0.15588	0.0929:0.1346:0.17:0.6025	.	.	.	.	R	265	.	.	G	-	1	0	APBB2	40710367	0.000000	0.05858	0.880000	0.34516	0.021000	0.10359	-2.188000	0.01249	-0.852000	0.04141	0.563000	0.77884	GGA		0.512	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		54	142	0	0	0	1	0	54	142				
LIPE	3991	broad.mit.edu	37	19	42930579	42930579	+	Silent	SNP	A	A	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr19:42930579A>T	ENST00000244289.4	-	1	999	c.723T>A	c.(721-723)tcT>tcA	p.S241S	LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	241					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CTGTGTCTGAAGATGATCCCA	0.473																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(721-723)tcT>tcA		lipase, hormone-sensitive							118.0	116.0	117.0					19																	42930579		2203	4300	6503	SO:0001819	synonymous_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42930579A>T	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.723T>A	19.37:g.42930579A>T						LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	p.S241S	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			1	999	-		Prostate(69;0.00682)	241					Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	c.723T>A	CCDS12607.1																																																																																				0.473	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		40	58	0	0	0	1	0	40	58				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		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.chr17:7577121G>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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	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)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and 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; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	12	0	0	0	1	0	21	12				
IFNA21	3452	broad.mit.edu	37	9	21166611	21166611	+	Start_Codon_SNP	SNP	T	T	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr9:21166611T>C	ENST00000380225.1	-	1	48	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	1					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GACAGGGCCATTGGGATGTTG	0.488																																						ENST00000380225.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14						c.(1-3)Atg>Gtg		interferon, alpha 21							69.0	67.0	68.0					9																	21166611		2203	4300	6503	SO:0001582	initiator_codon_variant	3452				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21166611T>C		CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"""Interferons"""	5424	protein-coding gene	gene with protein product	"""leukocyte interferon protein"""	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.1A>G	9.37:g.21166611T>C	ENSP00000369574:p.Met1Val						p.M1V	NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN		GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	48	-			1					Q14608|Q5VWD1|Q7M4Q4	Translation_Start_Site	SNP	ENST00000380225.1	37	c.1A>G	CCDS6497.1	.	.	.	.	.	.	.	.	.	.	N	17.66	3.443411	0.63067	.	.	ENSG00000137080	ENST00000380225	T	0.03301	3.98	3.96	2.78	0.32641	.	0.134893	0.49916	D	0.000126	T	0.12603	0.0306	.	.	.	0.19945	N	0.999947	D	0.71674	0.998	D	0.81914	0.995	T	0.02774	-1.1112	9	0.87932	D	0	.	7.1992	0.25871	0.0:0.0:0.2285:0.7715	.	1	P01568	IFN21_HUMAN	V	1	ENSP00000369574:M1V	ENSP00000369574:M1V	M	-	1	0	IFNA21	21156611	0.858000	0.29795	0.285000	0.24819	0.770000	0.43624	1.176000	0.31957	0.558000	0.29135	0.487000	0.48397	ATG		0.488	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175	Missense_Mutation	25	58	0	0	0	1	0	25	58				
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	G	-	rs149280379		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr1:150530506delG	ENST00000369038.2	+	12	2464	c.2263delG	c.(2263-2265)gggfs	p.G758fs	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	758	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAATTTGGGGGGGGTGG	0.692																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(2263-2265)ggfs		ADAMTS-like 4							41.0	49.0	46.0					1																	150530506		2147	4195	6342	SO:0001589	frameshift_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150530506delG	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2263delG	1.37:g.150530506delG	ENSP00000358034:p.Gly758fs					ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs	p.G758fs	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		14	2499	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		758			TSP type-1 2.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Frame_Shift_Del	DEL	ENST00000369038.2	37	c.2263delG	CCDS955.1																																																																																				0.692	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		8	191						8	191	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34803152	34803152	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr6:34803152delA	ENST00000192788.5	+	7	922	c.751delA	c.(751-753)aagfs	p.K251fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.K251fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	251							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTCACAGCTCAAGGCTATGAT	0.493																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(751-753)agfs		UHRF1 binding protein 1							122.0	123.0	123.0					6																	34803152		2089	4224	6313	SO:0001589	frameshift_variant	54887							g.chr6:34803152delA	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.751delA	6.37:g.34803152delA	ENSP00000192788:p.Lys251fs					UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.K251fs	p.K251fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			7	922	+			251					Q9NXE0	Frame_Shift_Del	DEL	ENST00000192788.5	37	c.751delA	CCDS43455.1																																																																																				0.493	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		11	162						11	162	---	---	---	---
NCR2	9436	broad.mit.edu	37	6	41303645	41303647	+	In_Frame_Del	DEL	CTG	CTG	-	rs375455161		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr6:41303645_41303647delCTG	ENST00000373089.5	+	1	119_121	c.31_33delCTG	c.(31-33)ctgdel	p.L15del	NCR2_ENST00000373083.4_In_Frame_Del_p.L15del|NCR2_ENST00000373086.3_In_Frame_Del_p.L15del	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	15					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCCACTGCTACTGCTGCTGCTGC	0.635																																						ENST00000373083.4																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14						c.(31-33)del		natural cytotoxicity triggering receptor 2			,,	48,4200		1,46,2077					,,	-2.6	0.0			40	118,8096		0,118,3989	no	coding,coding,coding	NCR2	NM_004828.3,NM_001199510.1,NM_001199509.1	,,	1,164,6066	A1A1,A1R,RR		1.4366,1.1299,1.332	,,	,,		166,12296				SO:0001651	inframe_deletion	9436				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr6:41303645_41303647delCTG	AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	6732	protein-coding gene	gene with protein product		604531	"""lymphocyte antigen 95 (activating NK-receptor; NK-p44)"""	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.31_33delCTG	6.37:g.41303654_41303656delCTG	ENSP00000362181:p.Leu15del					NCR2_ENST00000373086.3_In_Frame_Del_p.L15del|NCR2_ENST00000373089.5_In_Frame_Del_p.L15del	p.L15del	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN			1	253_255	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		15					Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	In_Frame_Del	DEL	ENST00000373089.5	37	c.31_33delCTG	CCDS4855.1																																																																																				0.635	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040511.3			2	4						2	4	---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A	rs551348450	byFrequency	TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr6:76599857_76599858insA	ENST00000369977.3	+	26	2881_2882	c.2742_2743insA	c.(2743-2745)aaafs	p.K915fs	MYO6_ENST00000369975.1_Frame_Shift_Ins_p.K915fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.K915fs|MYO6_ENST00000369981.3_Frame_Shift_Ins_p.K915fs	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	915					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381													AAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|insertion	18	0.00359425	0.0083	0.0014	5008	,	,		16538	0.0		0.0	False		,,,				2504	0.0061					ENST00000369981.3																			1	Deletion - Frameshift(1)	p.K917fs*10(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2740-2745)caaaaafs		myosin VI				9,4255		0,9,2123						5.8	1.0			86	31,8223		0,31,4096	no	frameshift	MYO6	NM_004999.3		0,40,6219	A1A1,A1R,RR		0.3756,0.2111,0.3195				40,12478				SO:0001589	frameshift_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76599857_76599858insA	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2751dupA	6.37:g.76599866_76599866dupA	ENSP00000358994:p.Lys915fs					MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs	p.QK914fs			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	26	3021_3022	+		all_hematologic(105;0.189)	914					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Frame_Shift_Ins	INS	ENST00000369977.3	37	c.2742_2743insA	CCDS34487.1																																																																																				0.381	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		8	63						8	63	---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aaafs	p.K107fs	MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(313-315)aafs		microcephalin 1							83.0	81.0	82.0					8																	6289099		1811	4070	5881	SO:0001589	frameshift_variant	79648					microtubule organizing center		g.chr8:6289099delA	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.313delA	8.37:g.6289099delA	ENSP00000342924:p.Lys107fs					MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs	p.K107fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	4	389	+		Hepatocellular(245;0.0663)	107					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Frame_Shift_Del	DEL	ENST00000344683.5	37	c.313delA	CCDS43689.1																																																																																				0.274	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		8	114						8	114	---	---	---	---
ACVRL1	94	broad.mit.edu	37	12	52309001	52309008	+	Splice_Site	DEL	GCACACAG	GCACACAG	-	rs372753267		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr12:52309001_52309008delGCACACAG	ENST00000388922.4	+	7	1055		c.e7-1		ACVRL1_ENST00000419526.2_Splice_Site|ACVRL1_ENST00000550683.1_Splice_Site	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1						activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CAACCTTTCTGCACACAGGCTTCATCGC	0.615																																						ENST00000550683.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20	GRCh37	CS040830	ACVRL1	S		c.e6-1		activin A receptor type II-like 1	Adenosine triphosphate(DB00171)																																			SO:0001630	splice_region_variant	94				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52309001_52309008delGCACACAG	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.773-1GCACACAG>-	12.37:g.52309001_52309008delGCACACAG						ACVRL1_ENST00000388922.4_Splice_Site|ACVRL1_ENST00000419526.2_Splice_Site		NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	6	915	+								A6NGA8	Splice_Site	DEL	ENST00000388922.4	37		CCDS31804.1																																																																																				0.615	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2		Intron	8	38						8	38	---	---	---	---
TCF12	6938	broad.mit.edu	37	15	57555366	57555369	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr15:57555366_57555369delAAAG	ENST00000267811.5	+	17	1871_1874	c.1567_1570delAAAG	c.(1567-1572)aaagaafs	p.KE523fs	TCF12_ENST00000559710.1_Frame_Shift_Del_p.KE157fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.KE287fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.KE547fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.KE543fs|TCF12_ENST00000559703.1_Frame_Shift_Del_p.KE181fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.KE523fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.KE353fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.KE547fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.KE377fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	523				K -> E (in Ref. 3; CAD89914). {ECO:0000305}.	immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GACTGAAAACAAAGAAAAGGATGA	0.382			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1567-1572)aafs		transcription factor 12																																				SO:0001589	frameshift_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57555366_57555369delAAAG	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1567_1570delAAAG	15.37:g.57555366_57555369delAAAG	ENSP00000267811:p.Lys523fs					TCF12_ENST00000452095.2_Frame_Shift_Del_p.KE543fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.KE547fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.KE287fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.KE523fs|TCF12_ENST00000559703.1_Frame_Shift_Del_p.KE181fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.KE353fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.KE377fs|TCF12_ENST00000559710.1_Frame_Shift_Del_p.KE157fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.KE547fs	p.KE523fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	17	1871_1874	+		Colorectal(260;0.0907)	523	K -> E (in Ref. 3; CAD89914).				Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Del	DEL	ENST00000267811.5	37	c.1567_1570delAAAG	CCDS10159.1																																																																																				0.382	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		17	25						17	25	---	---	---	---
