#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-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr12:57111912G>A	ENST00000454682.1	-	3	3683	c.3402C>T	c.(3400-3402)ccC>ccT	p.P1134P	NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_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_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_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		4	100	0	0	0	1	0	4	100				
RICTOR	253260	broad.mit.edu	37	5	38945049	38945049	+	Silent	SNP	T	T	G			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:38945049T>G	ENST00000357387.3	-	35	4785	c.4755A>C	c.(4753-4755)tcA>tcC	p.S1585S	RICTOR_ENST00000296782.5_Silent_p.S1609S	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGCTGCTAGCTGAGCCTTCTT	0.408																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(4753-4755)tcA>tcC		RPTOR independent companion of MTOR, complex 2							117.0	117.0	117.0					5																	38945049		2203	4300	6503	SO:0001819	synonymous_variant	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38945049T>G		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4755A>C	5.37:g.38945049T>G						RICTOR_ENST00000296782.5_Silent_p.S1609S	p.S1585S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			35	4785	-	all_lung(31;0.000396)		1585						Silent	SNP	ENST00000357387.3	37	c.4755A>C	CCDS34148.1																																																																																				0.408	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		39	140	0	0	0	1	0	39	140				
AKR1C1	1645	broad.mit.edu	37	10	5011016	5011016	+	Silent	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr10:5011016C>T	ENST00000380872.4	+	5	642	c.450C>T	c.(448-450)gcC>gcT	p.A150A	AKR1C1_ENST00000434459.2_Silent_p.A150A|AKR1C1_ENST00000380859.1_Silent_p.A152A|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	150					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	TTTCCCAGGCCGTGGAGAAGT	0.463																																					Colon(130;2054 2316 13360 15380)	ENST00000380872.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						c.(448-450)gcC>gcT		aldo-keto reductase family 1, member C1							113.0	101.0	105.0					10																	5011016		2203	4300	6503	SO:0001819	synonymous_variant	1645							g.chr10:5011016C>T	D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"""Aldo-keto reductases"""	384	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"""	600449	"""aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"""	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.450C>T	10.37:g.5011016C>T						AKR1C1_ENST00000380859.1_Silent_p.A152A|AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Silent_p.A150A	p.A150A	NM_001353.5	NP_001344.2					5	642	+								P52896|Q5SR15|Q7M4N2|Q9UCX2	Silent	SNP	ENST00000380872.4	37	c.450C>T	CCDS7061.1	.	.	.	.	.	.	.	.	.	.	C	1.980	-0.434375	0.04669	.	.	ENSG00000187134	ENST00000442997	.	.	.	2.1	2.1	0.27182	.	.	.	.	.	T	0.53802	0.1819	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49753	-0.8906	4	.	.	.	.	6.6808	0.23119	0.0:0.7001:0.2999:0.0	.	.	.	.	L	117	.	.	P	+	2	0	AKR1C1	5001016	0.014000	0.17966	0.974000	0.42286	0.061000	0.15899	0.019000	0.13444	1.475000	0.48197	0.305000	0.20034	CCG		0.463	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	NM_001353		3	73	0	0	0	1	0	3	73				
RNMTL1	55178	broad.mit.edu	37	17	695199	695199	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr17:695199G>A	ENST00000304478.4	+	4	1259	c.1153G>A	c.(1153-1155)Ggt>Agt	p.G385S	RP11-676J12.8_ENST00000574560.1_RNA	NM_018146.2	NP_060616.1			RNA methyltransferase like 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		CGTTGTGCCTGGTGTGGACAG	0.637																																						ENST00000304478.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1153-1155)Ggt>Agt		RNA methyltransferase like 1							55.0	52.0	53.0					17																	695199		2203	4300	6503	SO:0001583	missense	55178				RNA processing		protein binding|RNA binding|RNA methyltransferase activity	g.chr17:695199G>A	AF177344	CCDS10997.1	17p13.3	2008-02-05			ENSG00000171861	ENSG00000171861			18485	protein-coding gene	gene with protein product		612600				12296377	Standard	NM_018146		Approved	FLJ10581, HC90	uc002frw.3	Q9HC36	OTTHUMG00000090285	ENST00000304478.4:c.1153G>A	17.37:g.695199G>A	ENSP00000306080:p.Gly385Ser						p.G385S	NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)	4	1259	+			385						Missense_Mutation	SNP	ENST00000304478.4	37	c.1153G>A	CCDS10997.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999759	0.74818	.	.	ENSG00000171861	ENST00000304478	T	0.39997	1.05	5.63	5.63	0.86233	tRNA/rRNA methyltransferase, SpoU (1);	0.253133	0.45361	D	0.000377	T	0.59074	0.2167	L	0.53729	1.69	0.50813	D	0.999899	D	0.54964	0.969	P	0.62014	0.897	T	0.54622	-0.8266	10	0.42905	T	0.14	-17.5772	18.6591	0.91465	0.0:0.0:1.0:0.0	.	385	Q9HC36	RMTL1_HUMAN	S	385	ENSP00000306080:G385S	ENSP00000306080:G385S	G	+	1	0	RNMTL1	641949	1.000000	0.71417	0.998000	0.56505	0.527000	0.34593	6.445000	0.73456	2.657000	0.90304	0.491000	0.48974	GGT		0.637	RNMTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206611.1	NM_018146		3	54	0	0	0	1	0	3	54				
NKIRAS1	28512	broad.mit.edu	37	3	23934708	23934708	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr3:23934708C>T	ENST00000443659.2	-	4	1234	c.457G>A	c.(457-459)Gat>Aat	p.D153N	NKIRAS1_ENST00000388759.3_Missense_Mutation_p.D153N|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.D153N|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.D153N|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.D153N|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.D153N|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.D153N|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.D153N			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	153					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						GTTTTCCGATCTGTAACAGTC	0.443																																						ENST00000443659.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						c.(457-459)Gat>Aat		NFKB inhibitor interacting Ras-like 1							196.0	162.0	174.0					3																	23934708		2203	4300	6503	SO:0001583	missense	28512				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr3:23934708C>T	AF229839	CCDS33717.1	3p24.1	2014-05-09	2004-05-20		ENSG00000197885	ENSG00000197885			17899	protein-coding gene	gene with protein product		604496	"""NFKB inhibitor interacting Ras-like protein 1"""			10657303	Standard	NM_020345		Approved	KBRAS1, kappaB-Ras1	uc003ccj.3	Q9NYS0	OTTHUMG00000155605	ENST00000443659.2:c.457G>A	3.37:g.23934708C>T	ENSP00000393785:p.Asp153Asn					NKIRAS1_ENST00000412028.1_Missense_Mutation_p.D153N|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.D153N|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.D153N|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.D153N|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.D153N|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.D153N|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.D153N	p.D153N			Q9NYS0	KBRS1_HUMAN			4	1234	-			153					Q96K18	Missense_Mutation	SNP	ENST00000443659.2	37	c.457G>A	CCDS33717.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.219084	0.58560	.	.	ENSG00000197885	ENST00000388759;ENST00000443659;ENST00000421515;ENST00000425478;ENST00000437230;ENST00000412028;ENST00000415901;ENST00000416026	T;T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	4.86	4.86	0.63082	Small GTP-binding protein domain (1);	0.062472	0.64402	D	0.000005	T	0.78553	0.4301	L	0.56280	1.765	0.80722	D	1	B;B	0.33919	0.378;0.432	B;B	0.37888	0.169;0.26	T	0.74529	-0.3635	10	0.15952	T	0.53	-14.5372	18.167	0.89731	0.0:1.0:0.0:0.0	.	153;153	G5E9P3;Q9NYS0	.;KBRS1_HUMAN	N	153	ENSP00000373411:D153N;ENSP00000393785:D153N;ENSP00000392307:D153N;ENSP00000400385:D153N;ENSP00000406543:D153N;ENSP00000396063:D153N;ENSP00000415225:D153N;ENSP00000394214:D153N	ENSP00000373411:D153N	D	-	1	0	NKIRAS1	23909712	1.000000	0.71417	0.149000	0.22428	0.343000	0.28985	7.647000	0.83462	2.522000	0.85027	0.591000	0.81541	GAT		0.443	NKIRAS1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340876.2	NM_020345		9	55	0	0	0	1	0	9	55				
FUK	197258	broad.mit.edu	37	16	70506485	70506485	+	Silent	SNP	A	A	G			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr16:70506485A>G	ENST00000288078.6	+	14	1615	c.1383A>G	c.(1381-1383)gaA>gaG	p.E461E	FUK_ENST00000571514.1_5'UTR|FUK_ENST00000378912.2_Silent_p.E493E	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	461						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCTGGAGTGAATTCTTCAAGA	0.607																																						ENST00000288078.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23						c.(1381-1383)gaA>gaG		fucokinase							58.0	59.0	59.0					16																	70506485		1949	4149	6098	SO:0001819	synonymous_variant	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70506485A>G		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.1383A>G	16.37:g.70506485A>G						FUK_ENST00000378912.2_Silent_p.E493E|FUK_ENST00000571514.1_5'UTR	p.E461E	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN			14	1615	+		Ovarian(137;0.0694)	461					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	c.1383A>G	CCDS10891.2																																																																																				0.607	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		9	38	0	0	0	1	0	9	38				
CDK2	1017	broad.mit.edu	37	12	56365358	56365358	+	Silent	SNP	T	T	C			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr12:56365358T>C	ENST00000266970.4	+	7	1086	c.846T>C	c.(844-846)gcT>gcC	p.A282A	CDK2_ENST00000553376.1_Silent_p.A330A|RAB5B_ENST00000448789.2_5'Flank|RAB5B_ENST00000553116.1_5'Flank|CDK2_ENST00000440311.2_Silent_p.A222A|RAB5B_ENST00000360299.5_5'Flank|CDK2_ENST00000354056.4_Silent_p.A248A|CDK2_ENST00000556656.1_3'UTR	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|blood coagulation (GO:0007596)|cellular response to nitric oxide (GO:0071732)|centrosome duplication (GO:0051298)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone phosphorylation (GO:0016572)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transport (GO:0006813)|Ras protein signal transduction (GO:0007265)|regulation of gene silencing (GO:0060968)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	Cajal body (GO:0015030)|centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|condensed chromosome (GO:0000793)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|X chromosome (GO:0000805)|Y chromosome (GO:0000806)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		Bosutinib(DB06616)	CAGCCCTGGCTCACCCTTTCT	0.527																																						ENST00000266970.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(844-846)gcT>gcC		cyclin-dependent kinase 2							143.0	125.0	131.0					12																	56365358		2203	4300	6503	SO:0001819	synonymous_variant	1017				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding	g.chr12:56365358T>C	M68520	CCDS8898.1, CCDS8899.1	12q13	2011-11-08				ENSG00000123374		"""Cyclin-dependent kinases"""	1771	protein-coding gene	gene with protein product		116953				1717994, 8275715	Standard	NM_001798		Approved		uc001sit.4	P24941		ENST00000266970.4:c.846T>C	12.37:g.56365358T>C						CDK2_ENST00000440311.2_Silent_p.A222A|CDK2_ENST00000556656.1_3'UTR|CDK2_ENST00000553376.1_Silent_p.A330A|CDK2_ENST00000354056.4_Silent_p.A248A	p.A282A	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		7	1086	+			282			Protein kinase.		A8K7C6|O75100	Silent	SNP	ENST00000266970.4	37	c.846T>C	CCDS8898.1																																																																																				0.527	CDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409650.1			38	124	0	0	0	1	0	38	124				
EPHA4	2043	broad.mit.edu	37	2	222301119	222301119	+	Splice_Site	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:222301119C>T	ENST00000281821.2	-	13	2387	c.2346G>A	c.(2344-2346)agG>agA	p.R782R	EPHA4_ENST00000409938.1_Splice_Site_p.R782R|EPHA4_ENST00000409854.1_Splice_Site_p.R782R|EPHA4_ENST00000392071.4_Splice_Site_p.R731R	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	782	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCTTTCTTACCCTGGTGGTGT	0.448																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.e13+1		EPH receptor A4							69.0	56.0	60.0					2																	222301119		2203	4300	6503	SO:0001630	splice_region_variant	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222301119C>T	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2346+1G>A	2.37:g.222301119C>T						EPHA4_ENST00000409938.1_Splice_Site_p.R782_splice|EPHA4_ENST00000392071.4_Splice_Site_p.R731_splice|EPHA4_ENST00000409854.1_Splice_Site_p.R782_splice	p.R782_splice	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	13	2387	-		Renal(207;0.0183)	782			Protein kinase.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Splice_Site	SNP	ENST00000281821.2	37	c.2346_splice	CCDS2447.1																																																																																				0.448	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3		Silent	3	46	0	0	0	1	0	3	46				
TNFRSF13B	23495	broad.mit.edu	37	17	16842993	16842993	+	Silent	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr17:16842993G>A	ENST00000261652.2	-	5	762	c.750C>T	c.(748-750)acC>acT	p.T250T	TNFRSF13B_ENST00000583789.1_Silent_p.T204T|TNFRSF13B_ENST00000581616.2_5'Flank|TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000437538.2_Silent_p.T204T	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	250					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						TGGGGTCGGGGGTCCCAGGCG	0.657									IgA Deficiency, Selective																													ENST00000437538.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						c.(610-612)acC>acT		tumor necrosis factor receptor superfamily, member 13B							37.0	34.0	35.0					17																	16842993		2203	4300	6503	SO:0001819	synonymous_variant	23495	IgA Deficiency, Selective	Familial Cancer Database	IGAD1, IGAD2	cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr17:16842993G>A	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.750C>T	17.37:g.16842993G>A						TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000261652.2_Silent_p.T250T|TNFRSF13B_ENST00000583789.1_Silent_p.T204T	p.T204T			O14836	TR13B_HUMAN			4	620	-			250					B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Silent	SNP	ENST00000261652.2	37	c.612C>T	CCDS11181.1																																																																																				0.657	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			3	38	0	0	0	1	0	3	38				
LRP5	4041	broad.mit.edu	37	11	68216515	68216515	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr11:68216515T>C	ENST00000294304.7	+	23	4931	c.4825T>C	c.(4825-4827)Tcc>Ccc	p.S1609P	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1609	Pro-rich.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCCCCTCCGTCCCCCTGCAC	0.582																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4825-4827)Tcc>Ccc		low density lipoprotein receptor-related protein 5							33.0	36.0	35.0					11																	68216515		2200	4292	6492	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68216515T>C	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4825T>C	11.37:g.68216515T>C	ENSP00000294304:p.Ser1609Pro					LRP5_ENST00000529481.1_3'UTR	p.S1609P	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			23	4931	+			1609			Pro-rich.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.4825T>C	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019969	0.54576	.	.	ENSG00000162337	ENST00000294304	D	0.96830	-4.14	4.53	4.53	0.55603	.	0.000000	0.46145	U	0.000317	D	0.97791	0.9275	M	0.78637	2.42	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.98611	1.0663	10	0.87932	D	0	.	14.0922	0.64998	0.0:0.0:0.0:1.0	.	1609;1609	Q9UES7;O75197	.;LRP5_HUMAN	P	1609	ENSP00000294304:S1609P	ENSP00000294304:S1609P	S	+	1	0	LRP5	67973091	1.000000	0.71417	0.932000	0.37286	0.021000	0.10359	7.395000	0.79876	1.919000	0.55581	0.454000	0.30748	TCC		0.582	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		3	119	0	0	0	1	0	3	119				
DCAF12L2	340578	broad.mit.edu	37	X	125298898	125298898	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chrX:125298898C>T	ENST00000360028.2	-	1	1036	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R337H			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	337										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GTTCTGCTGGCGCTGGCGCGG	0.622																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(1009-1011)cGc>cAc		DDB1 and CUL4 associated factor 12-like 2							55.0	59.0	57.0					X																	125298898		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125298898C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1010G>A	X.37:g.125298898C>T	ENSP00000353128:p.Arg337His					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R337H	p.R337H	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	1090	-			337					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1010G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	7.417	0.635902	0.14386	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.63580	-0.05;-0.05	4.05	2.22	0.28083	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.964031	0.08457	N	0.943000	T	0.44371	0.1290	L	0.29908	0.895	0.29364	N	0.864442	D	0.54772	0.968	B	0.38327	0.271	T	0.38286	-0.9668	10	0.40728	T	0.16	.	5.4353	0.16478	0.0:0.4876:0.3958:0.1165	.	337	Q5VW00	DC122_HUMAN	H	337	ENSP00000441489:R337H;ENSP00000353128:R337H	ENSP00000353128:R337H	R	-	2	0	DCAF12L2	125126579	0.005000	0.15991	0.248000	0.24265	0.814000	0.46013	0.315000	0.19451	0.458000	0.26988	0.544000	0.68410	CGC		0.622	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		32	11	0	0	0	1	0	32	11				
OR5A2	219981	broad.mit.edu	37	11	59189732	59189732	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr11:59189732G>T	ENST00000302040.4	-	1	717	c.695C>A	c.(694-696)gCt>gAt	p.A232D		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CCTACCTGTAGCTGAGCTGAT	0.483																																						ENST00000302040.4																			0				large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						c.(694-696)gCt>gAt		olfactory receptor, family 5, subfamily A, member 2							107.0	97.0	100.0					11																	59189732		2201	4295	6496	SO:0001583	missense	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59189732G>T	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.695C>A	11.37:g.59189732G>T	ENSP00000303834:p.Ala232Asp						p.A232D	NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN			1	717	-			232					B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	c.695C>A	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018654	0.75275	.	.	ENSG00000172324	ENST00000302040	T	0.00202	8.56	5.56	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.241548	0.21002	U	0.081858	T	0.00412	0.0013	M	0.86343	2.81	0.09310	N	1	P	0.49447	0.924	P	0.55455	0.776	T	0.38243	-0.9670	10	0.87932	D	0	.	6.4532	0.21916	0.225:0.1318:0.6432:0.0	.	232	Q8NGI9	OR5A2_HUMAN	D	232	ENSP00000303834:A232D	ENSP00000303834:A232D	A	-	2	0	OR5A2	58946308	0.000000	0.05858	0.003000	0.11579	0.703000	0.40648	-0.197000	0.09518	0.122000	0.18314	-0.142000	0.14014	GCT		0.483	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		5	42	1	0	0.0215528	1	0.022859	5	42				
OTUD6B	51633	broad.mit.edu	37	8	92090653	92090653	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr8:92090653G>A	ENST00000285420.4	+	4	574	c.475G>A	c.(475-477)Gga>Aga	p.G159R	OTUD6B_ENST00000404789.3_Missense_Mutation_p.G28R	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	129	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.						cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			AAACTTAACAGGAGCCAGACA	0.378																																						ENST00000285420.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(475-477)Gga>Aga		OTU domain containing 6B							49.0	50.0	49.0					8																	92090653		2202	4296	6498	SO:0001583	missense	51633							g.chr8:92090653G>A		CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"""OTU domain containing"""	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.475G>A	8.37:g.92090653G>A	ENSP00000285420:p.Gly159Arg					OTUD6B_ENST00000404789.3_Missense_Mutation_p.G28R	p.G159R	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0187)		4	574	+			129			OTU.		A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Missense_Mutation	SNP	ENST00000285420.4	37	c.475G>A	CCDS6253.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750573	0.89753	.	.	ENSG00000155100	ENST00000285420;ENST00000404789	T;T	0.40476	1.03;1.03	6.06	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.68128	0.2967	M	0.86343	2.81	0.80722	D	1	D;D	0.71674	0.998;0.97	D;P	0.70487	0.969;0.899	T	0.73081	-0.4095	10	0.46703	T	0.11	-26.1244	15.3889	0.74726	0.0665:0.0:0.9335:0.0	.	28;129	B4DEY0;Q8N6M0	.;OTU6B_HUMAN	R	159;28	ENSP00000285420:G159R;ENSP00000384190:G28R	ENSP00000285420:G159R	G	+	1	0	OTUD6B	92159829	1.000000	0.71417	0.980000	0.43619	0.955000	0.61496	9.230000	0.95299	1.575000	0.49775	0.650000	0.86243	GGA		0.378	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023		2	8	0	0	0	1	0	2	8				
MTRF1L	54516	broad.mit.edu	37	6	153319711	153319711	+	Missense_Mutation	SNP	T	T	G			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr6:153319711T>G	ENST00000367233.5	-	2	312	c.313A>C	c.(313-315)Aaa>Caa	p.K105Q	MTRF1L_ENST00000367230.1_Missense_Mutation_p.K105Q|MTRF1L_ENST00000367231.5_Missense_Mutation_p.K105Q|MTRF1L_ENST00000464135.1_5'UTR	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	105						mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		GTTATTTCTTTTTGACACAAA	0.303																																						ENST00000367233.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(313-315)Aaa>Caa		mitochondrial translational release factor 1-like							74.0	71.0	72.0					6																	153319711		2203	4293	6496	SO:0001583	missense	54516					mitochondrion	translation release factor activity, codon specific	g.chr6:153319711T>G	BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.313A>C	6.37:g.153319711T>G	ENSP00000356202:p.Lys105Gln					MTRF1L_ENST00000367230.1_Missense_Mutation_p.K105Q|MTRF1L_ENST00000367231.5_Missense_Mutation_p.K105Q|MTRF1L_ENST00000464135.1_5'UTR	p.K105Q	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)	2	312	-		Ovarian(120;0.125)	105					B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Missense_Mutation	SNP	ENST00000367233.5	37	c.313A>C	CCDS5243.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.000897	0.35320	.	.	ENSG00000112031	ENST00000367233;ENST00000367231;ENST00000367230	T;T;T	0.45276	0.9;0.9;0.9	5.19	5.19	0.71726	Peptide chain release factor (2);	0.317296	0.33895	N	0.004449	T	0.14399	0.0348	L	0.39566	1.225	0.33787	D	0.624965	B;B;B;B	0.32071	0.324;0.355;0.302;0.175	B;B;B;B	0.33890	0.172;0.107;0.124;0.129	T	0.09796	-1.0658	10	0.13853	T	0.58	-10.922	6.1979	0.20559	0.0:0.2064:0.0:0.7936	.	105;105;105;105	B4DMX1;Q9UGC7-2;Q9UGC7-4;Q9UGC7	.;.;.;RF1ML_HUMAN	Q	105	ENSP00000356202:K105Q;ENSP00000356200:K105Q;ENSP00000356199:K105Q	ENSP00000356199:K105Q	K	-	1	0	MTRF1L	153361404	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.528000	0.53524	2.103000	0.63969	0.529000	0.55759	AAA		0.303	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042764.1	NM_019041		3	40	0	0	0	1	0	3	40				
C2CD4B	388125	broad.mit.edu	37	15	62457107	62457107	+	Missense_Mutation	SNP	G	G	C	rs368735505		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr15:62457107G>C	ENST00000380392.3	-	2	205	c.77C>G	c.(76-78)aCg>aGg	p.T26R		NM_001007595.2	NP_001007596.2	A6NLJ0	C2C4B_HUMAN	C2 calcium-dependent domain containing 4B	26						focal adhesion (GO:0005925)|nucleolus (GO:0005730)				skin(1)	1						GCGATTCGGCGTGAGCACTTT	0.706																																						ENST00000380392.3																			0				skin(1)	1						c.(76-78)aCg>aGg		C2 calcium-dependent domain containing 4B							4.0	6.0	5.0					15																	62457107		2088	4092	6180	SO:0001583	missense	388125					nucleus		g.chr15:62457107G>C	BM023530	CCDS32259.1	15q22.2	2009-09-28	2009-09-28	2009-09-28					33628	protein-coding gene	gene with protein product	"""nuclear localized factor 2"""	610344	"""family with sequence similarity 148, member B"""	FAM148B			Standard	NM_001007595		Approved	NLF2	uc002ahg.2	A6NLJ0		ENST00000380392.3:c.77C>G	15.37:g.62457107G>C	ENSP00000369755:p.Thr26Arg						p.T26R	NM_001007595.2	NP_001007596.2	A6NLJ0	C2C4B_HUMAN			2	205	-			26						Missense_Mutation	SNP	ENST00000380392.3	37	c.77C>G	CCDS32259.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807309	0.70797	.	.	ENSG00000205502	ENST00000380392	D	0.93247	-3.19	4.05	4.05	0.47172	.	0.000000	0.85682	U	0.000000	D	0.96876	0.8980	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97669	1.0165	10	0.87932	D	0	.	15.7311	0.77804	0.0:0.0:1.0:0.0	.	26	A6NLJ0	C2C4B_HUMAN	R	26	ENSP00000369755:T26R	ENSP00000369755:T26R	T	-	2	0	C2CD4B	60244399	1.000000	0.71417	0.984000	0.44739	0.017000	0.09413	8.971000	0.93419	2.250000	0.74265	0.462000	0.41574	ACG		0.706	C2CD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416117.1	NM_001007595		2	5	0	0	0	1	0	2	5				
TTN	7273	broad.mit.edu	37	2	179402560	179402560	+	Missense_Mutation	SNP	A	A	G			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:179402560A>G	ENST00000591111.1	-	305	94675	c.94451T>C	c.(94450-94452)gTt>gCt	p.V31484A	TTN_ENST00000342992.6_Missense_Mutation_p.V30557A|TTN_ENST00000460472.2_Missense_Mutation_p.V24060A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V24252A|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V33125A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V24185A			Q8WZ42	TITIN_HUMAN	titin	31484	Ig-like 140.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGCCTTCCAACAATCTGGCA	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(99373-99375)gTt>gCt		titin							57.0	53.0	54.0					2																	179402560		1896	4118	6014	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179402560A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94451T>C	2.37:g.179402560A>G	ENSP00000465570:p.Val31484Ala					TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30557A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V24060A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V31484A|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V24185A|TTN_ENST00000342175.6_Missense_Mutation_p.V24252A|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.V33125A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		355	99598	-			31484					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.99374T>C		.	.	.	.	.	.	.	.	.	.	A	18.60	3.658206	0.67586	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	6.04	6.04	0.98038	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60366	0.2263	L	0.39020	1.185	0.46701	D	0.999165	P;P;P;P	0.44734	0.746;0.746;0.746;0.842	P;P;P;P	0.45167	0.472;0.472;0.472;0.454	T	0.64807	-0.6320	9	0.87932	D	0	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	24060;24185;24252;31484	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	30557;24060;24252;24185;24057	ENSP00000343764:V30557A;ENSP00000434586:V24060A;ENSP00000340554:V24252A;ENSP00000352154:V24185A	ENSP00000340554:V24252A	V	-	2	0	TTN	179110806	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	2.317000	0.78254	0.460000	0.39030	GTT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	24	0	0	0	1	0	7	24				
RUFY1	80230	broad.mit.edu	37	5	179023637	179023637	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:179023637G>A	ENST00000319449.4	+	13	1598	c.1586G>A	c.(1585-1587)aGg>aAg	p.R529K	RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000393438.2_Missense_Mutation_p.R421K|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000437570.2_Missense_Mutation_p.R421K	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	529					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGCGGGAGGATCGGCGCC	0.687										HNSCC(44;0.11)																												ENST00000319449.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1585-1587)aGg>aAg		RUN and FYVE domain containing 1							48.0	58.0	55.0					5																	179023637		2191	4284	6475	SO:0001583	missense	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:179023637G>A	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1586G>A	5.37:g.179023637G>A	ENSP00000325594:p.Arg529Lys	HNSCC(44;0.11)				RUFY1_ENST00000377001.2_3'UTR|RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000437570.2_Missense_Mutation_p.R421K|RUFY1_ENST00000393438.2_Missense_Mutation_p.R421K	p.R529K	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1598	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	529					Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	37	c.1586G>A	CCDS4445.2	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.590264	0.00864	.	.	ENSG00000176783	ENST00000319449;ENST00000437570;ENST00000393438;ENST00000360569	T;T;T	0.46451	0.87;0.87;0.87	5.29	0.688	0.18027	.	0.327029	0.34986	N	0.003529	T	0.14141	0.0342	N	0.03917	-0.325	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33879	-0.9851	10	0.02654	T	1	-9.6173	8.1884	0.31352	0.4358:0.0:0.5642:0.0	.	529	Q96T51	RUFY1_HUMAN	K	529;421;421;131	ENSP00000325594:R529K;ENSP00000390025:R421K;ENSP00000377087:R421K	ENSP00000325594:R529K	R	+	2	0	RUFY1	178956243	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	1.282000	0.33226	0.265000	0.21872	-0.378000	0.06908	AGG		0.687	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		3	111	0	0	0	1	0	3	111				
APOBEC1	339	broad.mit.edu	37	12	7802204	7802204	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr12:7802204G>A	ENST00000229304.4	-	5	670	c.650C>T	c.(649-651)aCg>aTg	p.T217M		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	217					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TGGCGGAATCGTTTGGTAATG	0.398																																					Pancreas(135;929 1826 4531 10527 41012)	ENST00000229304.4																			0				kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(649-651)aCg>aTg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1							184.0	165.0	171.0					12																	7802204		2203	4300	6503	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7802204G>A	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.650C>T	12.37:g.7802204G>A	ENSP00000229304:p.Thr217Met						p.T217M	NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN			5	670	-			217					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.650C>T	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	G	1.205	-0.631446	0.03584	.	.	ENSG00000111701	ENST00000229304	T	0.61859	0.07	4.32	-8.64	0.00874	.	1.067710	0.07354	N	0.882827	T	0.29556	0.0737	N	0.10733	0.035	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.28235	-1.0050	10	0.35671	T	0.21	-0.3517	8.008	0.30336	0.2624:0.3886:0.349:0.0	.	217	P41238	ABEC1_HUMAN	M	217	ENSP00000229304:T217M	ENSP00000229304:T217M	T	-	2	0	APOBEC1	7693471	0.000000	0.05858	0.003000	0.11579	0.062000	0.15995	-3.023000	0.00641	-2.563000	0.00472	-1.047000	0.02352	ACG		0.398	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		4	89	0	0	0	1	0	4	89				
ZNF443	10224	broad.mit.edu	37	19	12541141	12541141	+	Silent	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr19:12541141C>T	ENST00000301547.5	-	4	2042	c.1845G>A	c.(1843-1845)ccG>ccA	p.P615P	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	615					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TACATTCATACGGGTTCTCTC	0.403																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(1843-1845)ccG>ccA		zinc finger protein 443							62.0	67.0	65.0					19																	12541141		2197	4290	6487	SO:0001819	synonymous_variant	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12541141C>T	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1845G>A	19.37:g.12541141C>T						CTD-3105H18.16_ENST00000595562.1_Intron	p.P615P	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	2042	-			615						Silent	SNP	ENST00000301547.5	37	c.1845G>A	CCDS32918.1																																																																																				0.403	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		3	59	0	0	0	1	0	3	59				
PLCB4	5332	broad.mit.edu	37	20	9364983	9364983	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr20:9364983C>T	ENST00000378493.1	+	11	1004	c.989C>T	c.(988-990)aCt>aTt	p.T330I	PLCB4_ENST00000278655.4_Missense_Mutation_p.T330I|PLCB4_ENST00000334005.3_Missense_Mutation_p.T330I|PLCB4_ENST00000378501.2_Missense_Mutation_p.T330I|PLCB4_ENST00000414679.2_Missense_Mutation_p.T330I|PLCB4_ENST00000378473.3_Missense_Mutation_p.T330I|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	330	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCCCATAACACTTATCTCACT	0.468																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(988-990)aCt>aTt		phospholipase C, beta 4							141.0	126.0	131.0					20																	9364983		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9364983C>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.989C>T	20.37:g.9364983C>T	ENSP00000367754:p.Thr330Ile					PLCB4_ENST00000378493.1_Missense_Mutation_p.T330I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.T330I|PLCB4_ENST00000334005.3_Missense_Mutation_p.T330I|PLCB4_ENST00000278655.4_Missense_Mutation_p.T330I|PLCB4_ENST00000414679.2_Missense_Mutation_p.T330I	p.T330I	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			11	1004	+			330			PI-PLC X-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.989C>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842862	0.91197	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.93	5.93	0.95920	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.043976	0.85682	D	0.000000	D	0.91720	0.7382	H	0.99881	4.885	0.80722	D	1	D;P;D;D	0.89917	1.0;0.922;0.997;1.0	D;D;D;D	0.97110	1.0;0.919;0.995;1.0	D	0.95163	0.8283	10	0.87932	D	0	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	330;177;330;330	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	I	330;330;330;330;330;166	ENSP00000334105:T330I;ENSP00000367734:T330I;ENSP00000278655:T330I;ENSP00000367754:T330I;ENSP00000367762:T330I;ENSP00000390616:T166I	ENSP00000278655:T330I	T	+	2	0	PLCB4	9312983	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	7.426000	0.80270	2.814000	0.96858	0.563000	0.77884	ACT		0.468	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			19	75	0	0	0	1	0	19	75				
KRTAP4-9	100132386	broad.mit.edu	37	17	39262078	39262078	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr17:39262078G>T	ENST00000391415.1	+	1	495	c.438G>T	c.(436-438)caG>caT	p.Q146H		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	146	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						tgtgctgccagcccaactgct	0.667																																						ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(436-438)caG>caT		keratin associated protein 4-9							5.0	9.0	8.0					17																	39262078		667	1554	2221	SO:0001583	missense	100132386					keratin filament		g.chr17:39262078G>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.438G>T	17.37:g.39262078G>T	ENSP00000375234:p.Gln146His						p.Q146H	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	495	+			146			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Missense_Mutation	SNP	ENST00000391415.1	37	c.438G>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	9.438	1.087415	0.20390	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.00599	6.3	3.13	-6.26	0.02033	.	1.171440	0.07222	U	0.861106	T	0.00496	0.0016	L	0.60455	1.87	0.09310	N	1	P	0.36944	0.574	B	0.28784	0.094	T	0.35798	-0.9774	10	0.42905	T	0.14	.	2.6238	0.04924	0.1962:0.4023:0.2758:0.1256	.	146	Q9BYQ8	KRA49_HUMAN	H	134;146;137	ENSP00000375234:Q146H	ENSP00000334461:Q137H	Q	+	3	2	KRTAP4-9	36515604	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	-3.832000	0.00355	-0.921000	0.03794	0.306000	0.20318	CAG		0.667	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		4	28	1	0	0.000602214	1	0.000669127	4	28				
FN1	2335	broad.mit.edu	37	2	216259362	216259362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:216259362G>A	ENST00000359671.1	-	24	3950	c.3685C>T	c.(3685-3687)Cag>Tag	p.Q1229*	FN1_ENST00000345488.5_Nonsense_Mutation_p.Q1229*|FN1_ENST00000421182.1_Nonsense_Mutation_p.Q1229*|FN1_ENST00000357867.4_Nonsense_Mutation_p.Q1229*|FN1_ENST00000446046.1_Nonsense_Mutation_p.Q1229*|FN1_ENST00000443816.1_Nonsense_Mutation_p.Q1229*|FN1_ENST00000356005.4_Nonsense_Mutation_p.Q1229*|FN1_ENST00000354785.4_Nonsense_Mutation_p.Q1229*|FN1_ENST00000336916.4_Nonsense_Mutation_p.Q1229*|FN1_ENST00000432072.2_Nonsense_Mutation_p.Q1229*|FN1_ENST00000323926.6_Nonsense_Mutation_p.Q1229*|FN1_ENST00000346544.3_Nonsense_Mutation_p.Q1229*|FN1_ENST00000357009.2_Nonsense_Mutation_p.Q1229*			P02751	FINC_HUMAN	fibronectin 1	1229	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CAGGAGCTCTGATCAGCATGG	0.453																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(3685-3687)Cag>Tag		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						149.0	153.0	152.0					2																	216259362		2203	4300	6503	SO:0001587	stop_gained	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216259362G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3685C>T	2.37:g.216259362G>A	ENSP00000352696:p.Gln1229*					FN1_ENST00000421182.1_Nonsense_Mutation_p.Q1229*|FN1_ENST00000346544.3_Nonsense_Mutation_p.Q1229*|FN1_ENST00000359671.1_Nonsense_Mutation_p.Q1229*|FN1_ENST00000357867.4_Nonsense_Mutation_p.Q1229*|FN1_ENST00000357009.2_Nonsense_Mutation_p.Q1229*|FN1_ENST00000356005.4_Nonsense_Mutation_p.Q1229*|FN1_ENST00000345488.5_Nonsense_Mutation_p.Q1229*|FN1_ENST00000336916.4_Nonsense_Mutation_p.Q1229*|FN1_ENST00000446046.1_Nonsense_Mutation_p.Q1229*|FN1_ENST00000443816.1_Nonsense_Mutation_p.Q1229*|FN1_ENST00000432072.2_Nonsense_Mutation_p.Q1229*|FN1_ENST00000323926.6_Nonsense_Mutation_p.Q1229*	p.Q1229*			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	24	4054	-		Renal(323;0.127)	1229			Fibronectin type-III 7.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Nonsense_Mutation	SNP	ENST00000359671.1	37	c.3685C>T		.	.	.	.	.	.	.	.	.	.	G	46	12.231545	0.99648	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	.	.	.	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	19.4559	0.94889	0.0:0.0:1.0:0.0	.	.	.	.	X	1229	.	ENSP00000265313:Q1229X	Q	-	1	0	FN1	215967607	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.017000	0.70805	2.594000	0.87642	0.655000	0.94253	CAG		0.453	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		6	144	0	0	0	1	0	6	144				
EPHA6	285220	broad.mit.edu	37	3	97194208	97194208	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr3:97194208C>G	ENST00000514100.1	+	5	325	c.83C>G	c.(82-84)gCa>gGa	p.A28G	EPHA6_ENST00000502694.1_Missense_Mutation_p.A28G|EPHA6_ENST00000389672.5_Missense_Mutation_p.A636G|EPHA6_ENST00000442602.2_Missense_Mutation_p.A2G	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	542						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCTGACATGGCAGCAGAACAA	0.403																																						ENST00000389672.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(1906-1908)gCa>gGa		EPH receptor A6							68.0	68.0	68.0					3																	97194208		1883	4110	5993	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97194208C>G	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.83C>G	3.37:g.97194208C>G	ENSP00000421711:p.Ala28Gly					EPHA6_ENST00000514100.1_Missense_Mutation_p.A28G|EPHA6_ENST00000502694.1_Missense_Mutation_p.A28G|EPHA6_ENST00000442602.2_Missense_Mutation_p.A2G	p.A636G	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN			8	1945	+			541			Protein kinase.		D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37	c.1907C>G		.	.	.	.	.	.	.	.	.	.	C	34	5.345428	0.95807	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;D;T;T	0.82433	-0.93;-1.61;-1.38;0.15	6.07	6.07	0.98685	.	.	.	.	.	D	0.86029	0.5835	L	0.36672	1.1	0.58432	D	0.999998	D;P;P;D	0.67145	0.996;0.935;0.592;0.995	P;P;B;P	0.57620	0.824;0.492;0.169;0.776	D	0.85409	0.1136	9	0.51188	T	0.08	.	20.2544	0.98414	0.0:1.0:0.0:0.0	.	2;541;28;28	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	G	636;28;28;2	ENSP00000374323:A636G;ENSP00000421711:A28G;ENSP00000423950:A28G;ENSP00000403100:A2G	ENSP00000374323:A636G	A	+	2	0	EPHA6	98676898	1.000000	0.71417	0.930000	0.37139	0.995000	0.86356	6.724000	0.74747	2.885000	0.99019	0.655000	0.94253	GCA		0.403	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		3	34	0	0	0	1	0	3	34				
PGAM4	441531	broad.mit.edu	37	X	77225016	77225016	+	Silent	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chrX:77225016G>A	ENST00000458128.1	-	1	119	c.120C>T	c.(118-120)cgC>cgT	p.R40R	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	40			R -> C. {ECO:0000269|PubMed:11961099}.		glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						CCTGCCCGCCGCGCTTCGCCT	0.627																																						ENST00000458128.1																			0				endometrium(2)|lung(4)	6						c.(118-120)cgC>cgT		phosphoglycerate mutase family member 4							58.0	60.0	59.0					X																	77225016		2202	4291	6493	SO:0001819	synonymous_variant	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77225016G>A	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"""phosphoglycerate mutase family 4"""			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.120C>T	X.37:g.77225016G>A						ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron	p.R40R	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN			1	119	-			40		R -> C.			Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Silent	SNP	ENST00000458128.1	37	c.120C>T	CCDS35338.1																																																																																				0.627	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	NM_001029891		7	79	0	0	0	1	0	7	79				
HIST1H3C	8352	broad.mit.edu	37	6	26045693	26045693	+	Missense_Mutation	SNP	A	A	C			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr6:26045693A>C	ENST00000540144.1	+	1	55	c.55A>C	c.(55-57)Aag>Cag	p.K19Q	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	19					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						AGCTCCGCGCAAGCAGCTTGC	0.577																																						ENST00000540144.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						c.(55-57)Aag>Cag		histone cluster 1, H3c							40.0	43.0	42.0					6																	26045693		2203	4300	6503	SO:0001583	missense	8352				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26045693A>C	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.55A>C	6.37:g.26045693A>C	ENSP00000439493:p.Lys19Gln						p.K19Q	NM_003531.2	NP_003522.1	P68431	H31_HUMAN			1	55	+			19					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000540144.1	37	c.55A>C	CCDS4576.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.476378	0.26511	.	.	ENSG00000196532	ENST00000540144	T	0.48522	0.81	4.67	4.67	0.58626	.	.	.	.	.	T	0.53351	0.1791	.	.	.	0.37803	D	0.927785	.	.	.	.	.	.	T	0.61642	-0.7021	6	0.87932	D	0	.	13.9855	0.64331	1.0:0.0:0.0:0.0	.	.	.	.	Q	19	ENSP00000439493:K19Q	ENSP00000439493:K19Q	K	+	1	0	HIST1H3C	26153672	1.000000	0.71417	0.998000	0.56505	0.003000	0.03518	9.175000	0.94831	2.045000	0.60652	0.482000	0.46254	AAG		0.577	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		7	60	0	0	0	1	0	7	60				
RDM1	201299	broad.mit.edu	37	17	34247216	34247216	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr17:34247216T>C	ENST00000293273.6	-	6	773	c.728A>G	c.(727-729)gAa>gGa	p.E243G	RDM1_ENST00000394529.3_Missense_Mutation_p.E220G|RDM1_ENST00000431884.2_Missense_Mutation_p.E210G|RDM1_ENST00000419453.2_Missense_Mutation_p.E187G|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000425909.3_Intron	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	243					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TAGTTCTTCTTCGCATCTGAC	0.373								Other identified genes with known or suspected DNA repair function																														ENST00000394529.3																			0				breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9						c.(658-660)gAa>gGa	Other identified genes with known or suspected DNA repair function	RAD52 motif 1							142.0	134.0	137.0					17																	34247216		2203	4300	6503	SO:0001583	missense	201299				DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding	g.chr17:34247216T>C	AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"""RNA binding motif (RRM) containing"""	19950	protein-coding gene	gene with protein product		612896	"""RAD52 homolog B (S. cerevisiae)"", ""RAD52 motif 1"""	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.728A>G	17.37:g.34247216T>C	ENSP00000293273:p.Glu243Gly					RDM1_ENST00000293273.6_Missense_Mutation_p.E243G|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000431884.2_Missense_Mutation_p.E210G|RDM1_ENST00000419453.2_Missense_Mutation_p.E187G	p.E220G	NM_001163130.1	NP_001156602.1	Q8NG50	RDM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	5	1145	-		Ovarian(249;0.17)	243					A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Missense_Mutation	SNP	ENST00000293273.6	37	c.659A>G	CCDS11301.1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.778695	0.31502	.	.	ENSG00000187456	ENST00000293273;ENST00000419453;ENST00000394529;ENST00000431884	T;T;T	0.35789	1.29;1.29;1.29	2.57	2.57	0.30868	.	0.384577	0.21252	N	0.077631	T	0.29882	0.0747	L	0.59436	1.845	0.80722	D	1	P;P;B;P	0.36535	0.557;0.557;0.421;0.557	B;B;B;B	0.31101	0.086;0.124;0.058;0.086	T	0.27157	-1.0082	10	0.72032	D	0.01	-5.2096	8.9715	0.35910	0.0:0.0:0.0:1.0	.	210;220;243;187	Q8NG50-5;Q8NG50-2;Q8NG50;Q8NG50-6	.;.;RDM1_HUMAN;.	G	243;89;220;210	ENSP00000293273:E243G;ENSP00000378037:E220G;ENSP00000391290:E210G	ENSP00000293273:E243G	E	-	2	0	RDM1	31271329	0.426000	0.25506	0.100000	0.21137	0.010000	0.07245	1.687000	0.37680	1.425000	0.47237	0.477000	0.44152	GAA		0.373	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2	NM_145654		7	89	0	0	0	1	0	7	89				
VPS13A	23230	broad.mit.edu	37	9	80022520	80022520	+	Silent	SNP	C	C	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr9:80022520C>A	ENST00000360280.3	+	71	9731	c.9471C>A	c.(9469-9471)gcC>gcA	p.A3157A	VPS13A_ENST00000484581.2_Silent_p.A93A|VPS13A_ENST00000376646.3_Silent_p.A93A|VPS13A_ENST00000376636.3_Silent_p.A3118A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3157					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGAGGATGCCAGGGtaaata	0.318																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(9469-9471)gcC>gcA		vacuolar protein sorting 13 homolog A (S. cerevisiae)							30.0	33.0	32.0					9																	80022520		2187	4286	6473	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:80022520C>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.9471C>A	9.37:g.80022520C>A						VPS13A_ENST00000376636.3_Silent_p.A3118A|VPS13A_ENST00000484581.2_Silent_p.A93A|VPS13A_ENST00000376646.3_Silent_p.A93A	p.A3157A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			71	9731	+			3157					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.9471C>A	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	9.365	1.068967	0.20147	.	.	ENSG00000197969	ENST00000467124	.	.	.	5.66	-2.97	0.05530	.	.	.	.	.	T	0.36386	0.0965	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36672	-0.9738	4	.	.	.	.	0.3492	0.00346	0.2157:0.2489:0.2209:0.3146	.	.	.	.	Q	31	.	.	P	+	2	0	VPS13A	79212340	0.980000	0.34600	0.997000	0.53966	0.971000	0.66376	0.089000	0.15002	-0.134000	0.11516	-1.224000	0.01588	CCA		0.318	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		3	31	1	0	0.014758	1	0.0158932	3	31				
ADAMTS17	170691	broad.mit.edu	37	15	100533254	100533254	+	Splice_Site	SNP	G	G	A	rs142633005	byFrequency	TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr15:100533254G>A	ENST00000268070.4	-	20	3053	c.2948C>T	c.(2947-2949)aCg>aTg	p.T983M		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	983	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGCTCTCACCGTAGACCAGTC	0.617																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.e20+1		ADAM metallopeptidase with thrombospondin type 1 motif, 17		G	MET/THR	0,4406		0,0,2203	91.0	73.0	79.0		2948	4.3	1.0	15	dbSNP_134	79	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice	ADAMTS17	NM_139057.2	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	983/1096	100533254	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100533254G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2949+1C>T	15.37:g.100533254G>A							p.T983_splice	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	20	3053	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		983			TSP type-1 5.		Q2I7G4|Q6ZN75	Splice_Site	SNP	ENST00000268070.4	37	c.2949_splice	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909147	0.72868	0.0	2.33E-4	ENSG00000140470	ENST00000268070	T	0.53423	0.62	5.41	4.3	0.51218	.	0.062583	0.64402	D	0.000011	T	0.44891	0.1315	L	0.42529	1.33	0.34333	D	0.687915	P	0.46395	0.877	P	0.44860	0.462	T	0.61008	-0.7149	10	0.72032	D	0.01	.	12.4275	0.55556	0.0:0.0:0.147:0.853	.	983	Q8TE56	ATS17_HUMAN	M	983	ENSP00000268070:T983M	ENSP00000268070:T983M	T	-	2	0	ADAMTS17	98350777	1.000000	0.71417	0.991000	0.47740	0.845000	0.48019	4.608000	0.61141	0.883000	0.36040	-0.262000	0.10625	ACG		0.617	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057	Missense_Mutation	3	57	0	0	0	1	0	3	57				
TSPAN15	23555	broad.mit.edu	37	10	71264232	71264232	+	Silent	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr10:71264232C>T	ENST00000373290.2	+	6	731	c.609C>T	c.(607-609)atC>atT	p.I203I	TSPAN15_ENST00000459981.1_3'UTR	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	203					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						ACAAAACTATCGACAAGGAGG	0.423																																						ENST00000373290.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						c.(607-609)atC>atT		tetraspanin 15							181.0	169.0	173.0					10																	71264232		2203	4300	6503	SO:0001819	synonymous_variant	23555					integral to plasma membrane|membrane fraction		g.chr10:71264232C>T	AY358934	CCDS7294.1	10q22.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000099282	ENSG00000099282		"""Tetraspanins"""	23298	protein-coding gene	gene with protein product		613140	"""transmembrane 4 superfamily member 15"""	TM4SF15		11739647, 10719184	Standard	NM_012339		Approved	NET-7	uc001jpo.1	O95858	OTTHUMG00000018381	ENST00000373290.2:c.609C>T	10.37:g.71264232C>T						TSPAN15_ENST00000459981.1_3'UTR	p.I203I	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN			6	731	+			203					Q6UW79	Silent	SNP	ENST00000373290.2	37	c.609C>T	CCDS7294.1																																																																																				0.423	TSPAN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048444.1	NM_012339		22	91	0	0	0	1	0	22	91				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	70	0	0	0	1	0	4	70				
RYR3	6263	broad.mit.edu	37	15	34129958	34129958	+	Missense_Mutation	SNP	A	A	G			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr15:34129958A>G	ENST00000389232.4	+	89	11847	c.11777A>G	c.(11776-11778)gAc>gGc	p.D3926G	RYR3_ENST00000415757.3_Missense_Mutation_p.D3921G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3926					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCAGCTCAGACACCTTCAAA	0.383																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(11776-11778)gAc>gGc		ryanodine receptor 3							72.0	67.0	69.0					15																	34129958		1850	4096	5946	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34129958A>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11777A>G	15.37:g.34129958A>G	ENSP00000373884:p.Asp3926Gly					RYR3_ENST00000415757.3_Missense_Mutation_p.D3921G	p.D3926G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	11847	+		all_lung(180;7.18e-09)	3926			EF-hand.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.11777A>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.290616	0.59976	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.82893	-1.66	5.16	5.16	0.70880	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90177	0.6930	M	0.75615	2.305	0.58432	D	0.999997	D;D	0.76494	0.995;0.999	D;D	0.72982	0.92;0.979	D	0.90710	0.4627	10	0.52906	T	0.07	.	15.1662	0.72828	1.0:0.0:0.0:0.0	.	3921;3926	Q15413-2;Q15413	.;RYR3_HUMAN	G	3926;3922	ENSP00000373884:D3926G	ENSP00000354735:D3922G	D	+	2	0	RYR3	31917250	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	9.020000	0.93667	2.182000	0.69389	0.450000	0.29827	GAC		0.383	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			3	16	0	0	0	1	0	3	16				
CTNNBL1	56259	broad.mit.edu	37	20	36488410	36488410	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr20:36488410C>T	ENST00000361383.6	+	14	1619	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.A314V|CTNNBL1_ENST00000405275.2_Missense_Mutation_p.A474V|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.A249V	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	501					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TACATCATGGCCGAGATCTGC	0.587																																					Ovarian(184;582 2038 3273 4106 42608)	ENST00000405275.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28						c.(1420-1422)gCc>gTc		catenin, beta like 1							63.0	57.0	59.0					20																	36488410		2203	4300	6503	SO:0001583	missense	56259				apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding	g.chr20:36488410C>T	AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1502C>T	20.37:g.36488410C>T	ENSP00000355050:p.Ala501Val					CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.A249V|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.A501V|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.A314V	p.A474V			Q8WYA6	CTBL1_HUMAN			15	1664	+		Myeloproliferative disorder(115;0.00878)	501					B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	ENST00000361383.6	37	c.1421C>T	CCDS13298.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600858	0.46423	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473;ENST00000373469	T;T;T;T	0.52526	0.66;0.66;0.74;0.75	5.52	5.52	0.82312	.	0.049826	0.85682	D	0.000000	T	0.34919	0.0914	N	0.20574	0.59	0.53005	D	0.999961	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.002	T	0.11792	-1.0573	10	0.17369	T	0.5	-12.6821	18.4484	0.90695	0.0:1.0:0.0:0.0	.	501;314	Q8WYA6;Q8WYA6-2	CTBL1_HUMAN;.	V	501;474;314;249	ENSP00000355050:A501V;ENSP00000384355:A474V;ENSP00000362572:A314V;ENSP00000362568:A249V	ENSP00000355050:A501V	A	+	2	0	CTNNBL1	35921824	1.000000	0.71417	0.963000	0.40424	0.989000	0.77384	5.706000	0.68362	2.590000	0.87494	0.655000	0.94253	GCC		0.587	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877		13	46	0	0	0	1	0	13	46				
ATP13A5	344905	broad.mit.edu	37	3	193082053	193082053	+	Missense_Mutation	SNP	C	C	T	rs78621247		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr3:193082053C>T	ENST00000342358.4	-	2	197	c.80G>A	c.(79-81)cGg>cAg	p.R27Q		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	27						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.R27L(1)|p.R27Q(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATTGTGGTCCCGGTAACCAAA	0.443																																						ENST00000342358.4																			2	Substitution - Missense(2)	p.R27L(1)|p.R27Q(1)	large_intestine(1)|lung(1)	NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(79-81)cGg>cAg		ATPase type 13A5							134.0	140.0	138.0					3																	193082053		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193082053C>T	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.80G>A	3.37:g.193082053C>T	ENSP00000341942:p.Arg27Gln						p.R27Q	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	2	197	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		27					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.80G>A	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	9.539	1.112848	0.20795	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.25579	1.79;1.79	5.5	-4.64	0.03349	.	1.440510	0.04190	N	0.328176	T	0.23846	0.0577	L	0.44542	1.39	0.09310	N	0.999995	B	0.22683	0.073	B	0.24701	0.055	T	0.33369	-0.9871	10	0.30078	T	0.28	0.0178	13.4643	0.61245	0.0:0.3546:0.0:0.6454	.	27	Q4VNC0	AT135_HUMAN	Q	27;49	ENSP00000341942:R27Q;ENSP00000389416:R49Q	ENSP00000341942:R27Q	R	-	2	0	ATP13A5	194564747	0.001000	0.12720	0.003000	0.11579	0.043000	0.13939	-0.477000	0.06583	-0.845000	0.04179	-0.142000	0.14014	CGG		0.443	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		8	181	0	0	0	1	0	8	181				
UFSP2	55325	broad.mit.edu	37	4	186329110	186329110	+	Silent	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr4:186329110C>T	ENST00000264689.6	-	9	1217	c.1101G>A	c.(1099-1101)acG>acA	p.T367T		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	367						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GGATTTTTGACGTTATACCGA	0.373																																						ENST00000264689.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1099-1101)acG>acA		UFM1-specific peptidase 2							98.0	87.0	91.0					4																	186329110		2203	4300	6503	SO:0001819	synonymous_variant	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186329110C>T	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.1101G>A	4.37:g.186329110C>T							p.T367T	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	9	1217	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	367					Q6IA77|Q96FS3	Silent	SNP	ENST00000264689.6	37	c.1101G>A	CCDS3842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.95|13.95	2.391267|2.391267	0.42410|0.42410	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000509180|ENST00000511485	.|.	.|.	.|.	5.87|5.87	-1.41|-1.41	0.08941|0.08941	.|.	.|.	.|.	.|.	.|.	T|T	0.42765|0.42765	0.1217|0.1217	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.30475|0.30475	-0.9977|-0.9977	4|4	.|.	.|.	.|.	-5.3052|-5.3052	3.4035|3.4035	0.07332|0.07332	0.3078:0.3647:0.0602:0.2673|0.3078:0.3647:0.0602:0.2673	.|.	.|.	.|.	.|.	H|I	96|266	.|.	.|.	R|V	-|-	2|1	0|0	UFSP2|UFSP2	186566104|186566104	0.941000|0.941000	0.31946|0.31946	0.994000|0.994000	0.49952|0.49952	0.834000|0.834000	0.47266|0.47266	0.132000|0.132000	0.15891|0.15891	-0.041000|-0.041000	0.13558|0.13558	-0.259000|-0.259000	0.10710|0.10710	CGT|GTC		0.373	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359		3	55	0	0	0	1	0	3	55				
PLCH1	23007	broad.mit.edu	37	3	155199080	155199080	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr3:155199080G>A	ENST00000340059.7	-	23	4758	c.4759C>T	c.(4759-4761)Cgc>Tgc	p.R1587C	PLCH1_ENST00000460012.1_Missense_Mutation_p.R1549C|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.R1549C|PLCH1_ENST00000414191.1_Missense_Mutation_p.R1549C	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1587					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCAATATTGCGCACTCTGCTC	0.512																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4645-4647)Cgc>Tgc		phospholipase C, eta 1							122.0	119.0	120.0					3																	155199080		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199080G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4759C>T	3.37:g.155199080G>A	ENSP00000345988:p.Arg1587Cys					PLCH1_ENST00000340059.7_Missense_Mutation_p.R1587C|PLCH1_ENST00000414191.1_Missense_Mutation_p.R1549C|PLCH1_ENST00000334686.6_Missense_Mutation_p.R1549C|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR	p.R1549C			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	5002	-			1587					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4645C>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339326	0.60963	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.64085	-0.08;-0.05;-0.08;-0.08	5.26	5.26	0.73747	.	0.191252	0.44483	D	0.000450	T	0.77987	0.4213	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.80527	-0.1343	10	0.87932	D	0	.	13.454	0.61189	0.0:0.0:0.8432:0.1568	.	1549;1587	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	C	1549;1587;1549;1549	ENSP00000417502:R1549C;ENSP00000345988:R1587C;ENSP00000335469:R1549C;ENSP00000412977:R1549C	ENSP00000335469:R1549C	R	-	1	0	PLCH1	156681774	1.000000	0.71417	0.980000	0.43619	0.522000	0.34438	6.709000	0.74665	2.433000	0.82419	0.655000	0.94253	CGC		0.512	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		9	123	0	0	0	1	0	9	123				
ANK2	287	broad.mit.edu	37	4	114214649	114214649	+	Silent	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr4:114214649C>T	ENST00000357077.4	+	22	2483	c.2430C>T	c.(2428-2430)gtC>gtT	p.V810V	ANK2_ENST00000264366.6_Silent_p.V810V|ANK2_ENST00000394537.3_Silent_p.V810V|ANK2_ENST00000509550.1_Silent_p.V19V|ANK2_ENST00000506722.1_Silent_p.V789V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	810					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTCCGTGGTCGACACCCTGA	0.488																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(2428-2430)gtC>gtT		ankyrin 2, neuronal							161.0	146.0	151.0					4																	114214649		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114214649C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2430C>T	4.37:g.114214649C>T						ANK2_ENST00000509550.1_Silent_p.V19V|ANK2_ENST00000506722.1_Silent_p.V789V|ANK2_ENST00000264366.6_Silent_p.V810V|ANK2_ENST00000394537.3_Silent_p.V810V	p.V810V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	22	2483	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	810					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.2430C>T	CCDS3702.1																																																																																				0.488	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		7	72	0	0	0	1	0	7	72				
DMXL1	1657	broad.mit.edu	37	5	118533574	118533574	+	Silent	SNP	C	C	A	rs186037183	byFrequency	TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:118533574C>A	ENST00000311085.8	+	32	7748	c.7668C>A	c.(7666-7668)acC>acA	p.T2556T	DMXL1_ENST00000539542.1_Silent_p.T2556T	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2556										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAAGTCATACCGCCGAAGAGA	0.433																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(7666-7668)acC>acA		Dmx-like 1							122.0	122.0	122.0					5																	118533574		2202	4300	6502	SO:0001819	synonymous_variant	1657							g.chr5:118533574C>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7668C>A	5.37:g.118533574C>A						DMXL1_ENST00000539542.1_Silent_p.T2556T	p.T2556T	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	32	7748	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2556						Silent	SNP	ENST00000311085.8	37	c.7668C>A	CCDS4125.1																																																																																				0.433	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		3	140	1	0	1	1	1	3	140				
TNP1	7141	broad.mit.edu	37	2	217724626	217724626	+	Silent	SNP	G	G	A	rs549619953	byFrequency	TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:217724626G>A	ENST00000236979.2	-	1	161	c.132C>T	c.(130-132)ggC>ggT	p.G44G	AC007563.5_ENST00000447289.1_RNA|AC007563.5_ENST00000607591.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)	44					chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|fertilization, exchange of chromosomal proteins (GO:0035042)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|sexual reproduction (GO:0019953)|single strand break repair (GO:0000012)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|spermatid nucleus elongation (GO:0007290)	male germ cell nucleus (GO:0001673)|nucleosome (GO:0000786)	DNA binding (GO:0003677)			large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCGTCATCGCCCCGTTTCC	0.547													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		20147	0.0		0.0	False		,,,				2504	0.001					ENST00000236979.2																			0				large_intestine(1)|lung(1)|stomach(1)	3						c.(130-132)ggC>ggT		transition protein 1 (during histone to protamine replacement)							217.0	195.0	203.0					2																	217724626		2203	4300	6503	SO:0001819	synonymous_variant	7141				chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding	g.chr2:217724626G>A		CCDS2406.1	2q35-q36	2008-06-03			ENSG00000118245	ENSG00000118245			11951	protein-coding gene	gene with protein product		190231				2249851	Standard	NM_003284		Approved		uc002vgk.3	P09430	OTTHUMG00000133057	ENST00000236979.2:c.132C>T	2.37:g.217724626G>A						AC007563.5_ENST00000447289.1_RNA	p.G44G	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	161	-		Renal(207;0.0822)	44						Silent	SNP	ENST00000236979.2	37	c.132C>T	CCDS2406.1																																																																																				0.547	TNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256673.1	NM_003284		8	155	0	0	0	1	0	8	155				
CYP1A2	1544	broad.mit.edu	37	15	75044488	75044488	+	Missense_Mutation	SNP	C	C	T	rs147333000	byFrequency	TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr15:75044488C>T	ENST00000343932.4	+	5	1129	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	356					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	CAGGGAGCGGCGGCCCCGGCT	0.592													c|||	3	0.000599042	0.0023	0.0	5008	,	,		17045	0.0		0.0	False		,,,				2504	0.0					ENST00000343932.4																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(1066-1068)Cgg>Tgg		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	C	TRP/ARG	11,4383	16.8+/-37.8	0,11,2186	70.0	75.0	73.0		1066	-4.4	0.0	15	dbSNP_134	73	0,8592		0,0,4296	yes	missense	CYP1A2	NM_000761.3	101	0,11,6482	TT,TC,CC		0.0,0.2503,0.0847	benign	356/517	75044488	11,12975	2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75044488C>T	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1066C>T	15.37:g.75044488C>T	ENSP00000342007:p.Arg356Trp						p.R356W	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			5	1129	+			356					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.1066C>T	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629669	0.28978	0.002503	0.0	ENSG00000140505	ENST00000343932	T	0.69435	-0.4	4.54	-4.44	0.03557	.	2.855550	0.01242	N	0.008655	T	0.61999	0.2392	M	0.66439	2.03	0.09310	N	1	B	0.16166	0.016	B	0.08055	0.003	T	0.50996	-0.8761	10	0.49607	T	0.09	.	6.9658	0.24623	0.5382:0.2493:0.0:0.2125	.	356	P05177-2	.	W	356	ENSP00000342007:R356W	ENSP00000342007:R356W	R	+	1	2	CYP1A2	72831541	0.000000	0.05858	0.000000	0.03702	0.187000	0.23431	-0.089000	0.11180	-0.433000	0.07286	-0.385000	0.06624	CGG		0.592	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		26	89	0	0	0	1	0	26	89				
PIK3C2B	5287	broad.mit.edu	37	1	204409361	204409361	+	Missense_Mutation	SNP	C	C	T	rs368018698		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:204409361C>T	ENST00000367187.3	-	23	3894	c.3338G>A	c.(3337-3339)cGc>cAc	p.R1113H	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1085H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1113	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GATGACCATGCGCATGTCCAG	0.602																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(3337-3339)cGc>cAc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	134.0	116.0	122.0		3338	5.2	1.0	1		122	0,8600		0,0,4300	no	missense	PIK3C2B	NM_002646.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1113/1635	204409361	1,13005	2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204409361C>T	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3338G>A	1.37:g.204409361C>T	ENSP00000356155:p.Arg1113His					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1085H	p.R1113H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		23	3894	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1113			PI3K/PI4K.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.3338G>A	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087376	0.94100	2.27E-4	0.0	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.77877	-1.13;-1.13	6.06	5.15	0.70609	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.048250	0.85682	D	0.000000	T	0.79275	0.4418	L	0.33792	1.035	0.43088	D	0.994758	D;B	0.60575	0.988;0.26	P;B	0.57152	0.814;0.039	T	0.81210	-0.1036	10	0.54805	T	0.06	.	14.8752	0.70488	0.0:0.931:0.0:0.069	.	1085;1113	F5GWN5;O00750	.;P3C2B_HUMAN	H	1113;1085	ENSP00000356155:R1113H;ENSP00000400561:R1085H	ENSP00000356155:R1113H	R	-	2	0	PIK3C2B	202675984	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.070000	0.71220	1.574000	0.49760	0.650000	0.86243	CGC		0.602	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		4	161	0	0	0	1	0	4	161				
SNX17	9784	broad.mit.edu	37	2	27599549	27599549	+	Missense_Mutation	SNP	A	A	G			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:27599549A>G	ENST00000233575.2	+	15	1598	c.1376A>G	c.(1375-1377)aAt>aGt	p.N459S	SNX17_ENST00000543024.1_Missense_Mutation_p.N245S|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000537606.1_Missense_Mutation_p.N434S|SNX17_ENST00000542478.1_Missense_Mutation_p.N245S	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	459					cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCACGGCAATTTCGCCTTC	0.547																																						ENST00000233575.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14						c.(1375-1377)aAt>aGt		sorting nexin 17							108.0	95.0	100.0					2																	27599549		2203	4300	6503	SO:0001583	missense	9784				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding	g.chr2:27599549A>G	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1376A>G	2.37:g.27599549A>G	ENSP00000233575:p.Asn459Ser					SNX17_ENST00000543024.1_Missense_Mutation_p.N245S|SNX17_ENST00000537606.1_Missense_Mutation_p.N434S|SNX17_ENST00000542478.1_Missense_Mutation_p.N245S	p.N459S	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN			15	1598	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		459					B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	ENST00000233575.2	37	c.1376A>G	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	A	18.19	3.568266	0.65651	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.52295	1.3;0.67;0.91;0.67	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.68229	0.2978	M	0.79123	2.44	0.58432	D	0.999998	D;D;D;D	0.76494	0.993;0.993;0.993;0.999	D;D;D;D	0.80764	0.968;0.968;0.935;0.994	T	0.72724	-0.4207	10	0.87932	D	0	-18.5364	13.1319	0.59387	1.0:0.0:0.0:0.0	.	434;447;439;459	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	S	459;245;434;245	ENSP00000233575:N459S;ENSP00000441779:N245S;ENSP00000439208:N434S;ENSP00000442567:N245S	ENSP00000233575:N459S	N	+	2	0	SNX17	27453053	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.988000	0.88194	2.206000	0.71126	0.459000	0.35465	AAT		0.547	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		11	47	0	0	0	1	0	11	47				
GPR108	56927	broad.mit.edu	37	19	6731108	6731108	+	Silent	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr19:6731108G>A	ENST00000264080.7	-	17	1475	c.1449C>T	c.(1447-1449)ggC>ggT	p.G483G	GPR108_ENST00000598626.1_Intron|GPR108_ENST00000430424.4_Silent_p.G241G	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	483						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCAGGGTGGAGCCCTCCACCA	0.692																																						ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(1447-1449)ggC>ggT		G protein-coupled receptor 108							44.0	50.0	48.0					19																	6731108		1990	4155	6145	SO:0001819	synonymous_variant	56927					integral to membrane		g.chr19:6731108G>A		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.1449C>T	19.37:g.6731108G>A						GPR108_ENST00000430424.4_Silent_p.G241G|GPR108_ENST00000598626.1_Intron	p.G483G	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			17	1475	-			483					B9EJD7	Silent	SNP	ENST00000264080.7	37	c.1449C>T	CCDS42479.1																																																																																				0.692	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			3	45	0	0	0	1	0	3	45				
HNF4G	3174	broad.mit.edu	37	8	76463690	76463690	+	Silent	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr8:76463690C>T	ENST00000354370.1	+	5	579	c.309C>T	c.(307-309)tcC>tcT	p.S103S	HNF4G_ENST00000396423.2_Silent_p.S140S			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	103					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ACATCCCCTCCATTAACACAC	0.448																																						ENST00000396423.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(418-420)tcC>tcT		hepatocyte nuclear factor 4, gamma							141.0	109.0	119.0					8																	76463690		2203	4300	6503	SO:0001819	synonymous_variant	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76463690C>T		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.309C>T	8.37:g.76463690C>T						HNF4G_ENST00000354370.1_Silent_p.S103S	p.S140S	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		4	544	+	Breast(64;0.0448)		103					Q7Z2V9|Q9UH81|Q9UIS6	Silent	SNP	ENST00000354370.1	37	c.420C>T																																																																																					0.448	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		7	64	0	0	0	1	0	7	64				
CELSR1	9620	broad.mit.edu	37	22	46760120	46760120	+	Silent	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr22:46760120C>T	ENST00000262738.3	-	34	8807	c.8808G>A	c.(8806-8808)ccG>ccA	p.P2936P		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2936					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCAGCGGCGGCGGGTAGGTGA	0.657																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(8806-8808)ccG>ccA		cadherin, EGF LAG seven-pass G-type receptor 1							38.0	47.0	44.0					22																	46760120		2200	4297	6497	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46760120C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8808G>A	22.37:g.46760120C>T							p.P2936P	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	34	8807	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2936					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.8808G>A	CCDS14076.1																																																																																				0.657	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		7	91	0	0	0	1	0	7	91				
POLR1C	9533	broad.mit.edu	37	6	43484884	43484884	+	Missense_Mutation	SNP	C	C	G	rs201754745	byFrequency	TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr6:43484884C>G	ENST00000372389.3	+	1	125	c.37C>G	c.(37-39)Cgc>Ggc	p.R13G	RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000304004.3_Missense_Mutation_p.R13G|YIPF3_ENST00000506469.1_5'Flank|POLR1C_ENST00000372344.2_Missense_Mutation_p.R13G|YIPF3_ENST00000372422.2_5'Flank	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	13					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			AATGCGGAGCCGCGTGGTTCT	0.597																																						ENST00000372389.3																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(37-39)Cgc>Ggc		polymerase (RNA) I polypeptide C, 30kDa							134.0	137.0	136.0					6																	43484884		2203	4300	6503	SO:0001583	missense	9533				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr6:43484884C>G	AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"""RNA polymerase subunits"""	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.37C>G	6.37:g.43484884C>G	ENSP00000361465:p.Arg13Gly					POLR1C_ENST00000372344.2_Missense_Mutation_p.R13G|POLR1C_ENST00000304004.3_Missense_Mutation_p.R13G	p.R13G	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		1	125	+	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		13					O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000372389.3	37	c.37C>G	CCDS4901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.021685|4.021685	0.75275|0.75275	.|.	.|.	ENSG00000171453|ENSG00000171453	ENST00000423780|ENST00000372389;ENST00000372344;ENST00000304004	.|D;D;T	.|0.84070	.|-1.76;-1.8;-0.77	5.23|5.23	4.37|4.37	0.52481|0.52481	.|.	.|0.127237	.|0.51477	.|D	.|0.000099	D|D	0.86372|0.86372	0.5917|0.5917	M|M	0.83012|0.83012	2.62|2.62	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.67145	.|0.992;0.996	.|P;P	.|0.61658	.|0.892;0.815	D|D	0.85443|0.85443	0.1156|0.1156	5|10	.|0.27082	.|T	.|0.32	-11.4463|-11.4463	13.812|13.812	0.63268|0.63268	0.0:0.9256:0.0:0.0744|0.0:0.9256:0.0:0.0744	.|.	.|13;13	.|O15160-2;O15160	.|.;RPAC1_HUMAN	R|G	12|13	.|ENSP00000361465:R13G;ENSP00000361419:R13G;ENSP00000307212:R13G	.|ENSP00000307212:R13G	P|R	+|+	2|1	0|0	POLR1C|POLR1C	43592862|43592862	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.377000|0.377000	0.30045|0.30045	4.721000|4.721000	0.61951|0.61951	1.207000|1.207000	0.43291|0.43291	0.558000|0.558000	0.71614|0.71614	CCG|CGC		0.597	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040652.3	NM_004875		7	121	0	0	0	1	0	7	121				
SH3TC2	79628	broad.mit.edu	37	5	148406691	148406691	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:148406691C>A	ENST00000515425.1	-	11	2705	c.2604G>T	c.(2602-2604)gaG>gaT	p.E868D	SH3TC2_ENST00000512049.1_Missense_Mutation_p.E861D|SH3TC2_ENST00000394358.2_Missense_Mutation_p.E753D|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000538184.1_Missense_Mutation_p.E415D	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	868					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCTCCCACCTCCTGGGCTC	0.572																																						ENST00000538184.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(1243-1245)gaG>gaT		SH3 domain and tetratricopeptide repeats 2							107.0	116.0	113.0					5																	148406691		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148406691C>A	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2604G>T	5.37:g.148406691C>A	ENSP00000423660:p.Glu868Asp					SH3TC2_ENST00000394358.2_Missense_Mutation_p.E753D|SH3TC2_ENST00000515425.1_Missense_Mutation_p.E868D|SH3TC2_ENST00000512049.1_Missense_Mutation_p.E861D	p.E415D			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	2133	-			868					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.1245G>T	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901935	0.33535	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;T;T;T	0.78364	-1.17;-0.97;-0.98;-0.97	6.16	3.29	0.37713	Tetratricopeptide-like helical (1);	0.056494	0.64402	N	0.000002	T	0.75889	0.3911	L	0.58969	1.84	0.36364	D	0.860869	B;B;B;B	0.31241	0.284;0.205;0.315;0.205	B;B;B;B	0.41894	0.179;0.369;0.369;0.369	T	0.77392	-0.2605	10	0.66056	D	0.02	-17.8326	6.2139	0.20644	0.1287:0.6652:0.0:0.2062	.	753;861;868;868	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	D	415;868;861;753	ENSP00000441427:E415D;ENSP00000423660:E868D;ENSP00000421860:E861D;ENSP00000377886:E753D	ENSP00000377886:E753D	E	-	3	2	SH3TC2	148386884	0.026000	0.19158	0.362000	0.25862	0.968000	0.65278	0.201000	0.17276	0.850000	0.35239	0.650000	0.86243	GAG		0.572	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		5	184	1	0	1	1	1	5	184				
MON2	23041	broad.mit.edu	37	12	62902191	62902191	+	Silent	SNP	A	A	G	rs369425233		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr12:62902191A>G	ENST00000393632.2	+	8	1306	c.915A>G	c.(913-915)ccA>ccG	p.P305P	MON2_ENST00000280379.6_Silent_p.P305P|MON2_ENST00000552115.1_Silent_p.P305P|MON2_ENST00000552738.1_Silent_p.P305P|MON2_ENST00000393630.3_Silent_p.P305P|MON2_ENST00000546600.1_Silent_p.P305P|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000393629.2_Silent_p.P305P	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	305					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTGAAAAACCATATTTTCCTA	0.373																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(913-915)ccA>ccG		MON2 homolog (S. cerevisiae)		A		0,4406		0,0,2203	128.0	124.0	125.0		915	-10.2	0.6	12		125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MON2	NM_015026.2		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		305/1718	62902191	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62902191A>G		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.915A>G	12.37:g.62902191A>G						MON2_ENST00000552115.1_Silent_p.P305P|MON2_ENST00000552738.1_Silent_p.P305P|MON2_ENST00000546600.1_Silent_p.P305P|MON2_ENST00000280379.6_Silent_p.P305P|MON2_ENST00000393629.2_Silent_p.P305P|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000393632.2_Silent_p.P305P	p.P305P	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	8	1306	+			305					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Silent	SNP	ENST00000393632.2	37	c.915A>G	CCDS31849.1																																																																																				0.373	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		37	80	0	0	0	1	0	37	80				
ARHGAP31	57514	broad.mit.edu	37	3	119133914	119133914	+	Silent	SNP	A	A	C			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr3:119133914A>C	ENST00000264245.4	+	12	3670	c.3138A>C	c.(3136-3138)ctA>ctC	p.L1046L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1046					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GAAAGGAGCTAGGGACACACC	0.592																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(3136-3138)ctA>ctC		Rho GTPase activating protein 31							107.0	121.0	116.0					3																	119133914		2107	4239	6346	SO:0001819	synonymous_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119133914A>C		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3138A>C	3.37:g.119133914A>C							p.L1046L	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	3670	+			1046					Q9ULL6	Silent	SNP	ENST00000264245.4	37	c.3138A>C	CCDS43135.1																																																																																				0.592	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			35	112	0	0	0	1	0	35	112				
RYR1	6261	broad.mit.edu	37	19	38976783	38976783	+	Missense_Mutation	SNP	G	G	A	rs147603571		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr19:38976783G>A	ENST00000359596.3	+	34	5488	c.5488G>A	c.(5488-5490)Gtc>Atc	p.V1830I	RYR1_ENST00000360985.3_Missense_Mutation_p.V1830I|RYR1_ENST00000355481.4_Missense_Mutation_p.V1830I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1830	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCGCGACCCCGTCGGGGGCTC	0.667																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5488-5490)Gtc>Atc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	G	ILE/VAL,ILE/VAL	0,4362		0,0,2181	96.0	96.0	96.0		5488,5488	3.7	1.0	19	dbSNP_134	96	1,8515		0,1,4257	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	29,29	0,1,6438	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging,probably-damaging	1830/5039,1830/5034	38976783	1,12877	2181	4258	6439	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976783G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5488G>A	19.37:g.38976783G>A	ENSP00000352608:p.Val1830Ile					RYR1_ENST00000360985.3_Missense_Mutation_p.V1830I|RYR1_ENST00000359596.3_Missense_Mutation_p.V1830I	p.V1830I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5619	+	all_cancers(60;7.91e-06)		1830			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5488G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788791	0.49997	0.0	1.17E-4	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.75477	-0.94;-0.94;-0.94	3.7	3.7	0.42460	.	0.000000	0.56097	U	0.000025	T	0.76681	0.4021	L	0.31752	0.955	0.46241	D	0.998947	D;P	0.76494	0.999;0.812	D;B	0.76071	0.987;0.362	T	0.72137	-0.4381	10	0.16896	T	0.51	.	15.2171	0.73277	0.0:0.0:1.0:0.0	.	1830;1830	P21817-2;P21817	.;RYR1_HUMAN	I	1830	ENSP00000352608:V1830I;ENSP00000347667:V1830I;ENSP00000354254:V1830I	ENSP00000347667:V1830I	V	+	1	0	RYR1	43668623	1.000000	0.71417	0.963000	0.40424	0.945000	0.59286	9.556000	0.98127	1.886000	0.54624	0.585000	0.79938	GTC		0.667	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			5	190	0	0	0	1	0	5	190				
RBM15	64783	broad.mit.edu	37	1	110882266	110882266	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:110882266G>A	ENST00000369784.3	+	1	1139	c.239G>A	c.(238-240)aGc>aAc	p.S80N	RBM15_ENST00000487146.2_Missense_Mutation_p.S80N|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000602849.1_Missense_Mutation_p.S80N	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	80	Gly/Ser-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCTGGTGGCAGCAATGGGAGC	0.637			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(238-240)aGc>aAc		RNA binding motif protein 15							36.0	37.0	37.0					1																	110882266		2203	4298	6501	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110882266G>A	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.239G>A	1.37:g.110882266G>A	ENSP00000358799:p.Ser80Asn		OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1430	RBM15_ENST00000487146.2_Missense_Mutation_p.S80N|RBM15_ENST00000602849.1_Missense_Mutation_p.S80N	p.S80N	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	1139	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	80			Gly/Ser-rich.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.239G>A	CCDS822.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.585270	0.46110	.	.	ENSG00000162775	ENST00000369784	T	0.19806	2.12	5.31	5.31	0.75309	.	0.000000	0.53938	D	0.000043	T	0.08268	0.0206	L	0.29908	0.895	0.30159	N	0.802362	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.08106	-1.0738	10	0.72032	D	0.01	-12.6453	13.4365	0.61086	0.0773:0.0:0.9227:0.0	.	80;80	Q96T37-3;Q96T37	.;RBM15_HUMAN	N	80	ENSP00000358799:S80N	ENSP00000358799:S80N	S	+	2	0	RBM15	110683789	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.890000	0.69774	2.763000	0.94921	0.655000	0.94253	AGC		0.637	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		3	54	0	0	0	1	0	3	54				
TAF9	6880	broad.mit.edu	37	5	68660800	68660800	+	Silent	SNP	A	A	G	rs548057941	byFrequency	TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:68660800A>G	ENST00000328663.4	-	3	1231	c.765T>C	c.(763-765)gaT>gaC	p.D255D	TAF9_ENST00000380818.3_Intron|TAF9_ENST00000506736.1_Silent_p.D255D|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000217893.5_Silent_p.D255D	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	255	Poly-Asp.				cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.D255D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		catcatcatcatcgtcatcat	0.318													A|||	4	0.000798722	0.0	0.0058	5008	,	,		23660	0.0		0.0	False		,,,				2504	0.0					ENST00000328663.4																			1	Substitution - coding silent(1)	p.D255D(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8						c.(763-765)gaT>gaC		TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa							115.0	107.0	110.0					5																	68660800		2203	4300	6503	SO:0001819	synonymous_variant	6880					Cajal body	adenylate kinase activity|ATP binding|protein binding	g.chr5:68660800A>G	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.765T>C	5.37:g.68660800A>G						TAF9_ENST00000512561.1_Intron|TAF9_ENST00000506736.1_Silent_p.D255D|TAF9_ENST00000217893.5_Silent_p.D255D|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000380822.4_Intron	p.D255D	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	3	1231	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	59					D3DWA3|Q5U0D1|Q9BTS1	Silent	SNP	ENST00000328663.4	37	c.765T>C	CCDS4002.1																																																																																				0.318	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1	NM_003187		3	57	0	0	0	1	0	3	57				
H6PD	9563	broad.mit.edu	37	1	9323958	9323958	+	Missense_Mutation	SNP	G	G	A	rs113495544	byFrequency	TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:9323958G>A	ENST00000377403.2	+	5	1708	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q	H6PD_ENST00000602477.1_Missense_Mutation_p.R480Q	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	469	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		TTCCATGGCCGGAAGAATTTC	0.597													G|||	3	0.000599042	0.0	0.0	5008	,	,		19050	0.002		0.0	False		,,,				2504	0.001					ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1405-1407)cGg>cAg		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	90.0	103.0	98.0		1406	3.7	0.5	1	dbSNP_132	98	0,8600		0,0,4300	yes	missense	H6PD	NM_004285.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	469/792	9323958	1,13005	2203	4300	6503	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9323958G>A	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1406G>A	1.37:g.9323958G>A	ENSP00000366620:p.Arg469Gln					H6PD_ENST00000602477.1_Missense_Mutation_p.R480Q	p.R469Q	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	1708	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	469			Glucose 1-dehydrogenase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.1406G>A	CCDS101.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	9.147	1.015316	0.19355	2.27E-4	0.0	ENSG00000049239	ENST00000377403	D	0.98207	-4.79	5.53	3.65	0.41850	.	0.309965	0.34002	N	0.004350	D	0.94305	0.8170	L	0.38175	1.15	0.33590	D	0.60101	B	0.30741	0.293	B	0.15052	0.012	D	0.94300	0.7536	10	0.28530	T	0.3	-23.6496	8.8895	0.35425	0.2291:0.0:0.7709:0.0	.	469	O95479	G6PE_HUMAN	Q	469	ENSP00000366620:R469Q	ENSP00000366620:R469Q	R	+	2	0	H6PD	9246545	0.961000	0.32948	0.509000	0.27700	0.417000	0.31264	1.618000	0.36954	1.339000	0.45563	0.561000	0.74099	CGG		0.597	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		4	123	0	0	0	1	0	4	123				
CDHR3	222256	broad.mit.edu	37	7	105641939	105641939	+	Silent	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr7:105641939C>T	ENST00000317716.9	+	7	825	c.745C>T	c.(745-747)Ctg>Ttg	p.L249L	CDHR3_ENST00000542731.1_Silent_p.L249L|CDHR3_ENST00000478080.1_Silent_p.L161L|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000541203.1_Silent_p.N149N|CDHR3_ENST00000470188.1_Intron	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	249	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CCTGGAGGAACTGAGTCCAGG	0.517																																						ENST00000542731.1																			0				breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						c.(745-747)Ctg>Ttg		cadherin-related family member 3							156.0	153.0	154.0					7																	105641939		2001	4162	6163	SO:0001819	synonymous_variant	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105641939C>T	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.745C>T	7.37:g.105641939C>T						CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000541203.1_Silent_p.N149N|CDHR3_ENST00000317716.9_Silent_p.L249L|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000478080.1_Silent_p.L161L	p.L249L			Q6ZTQ4	CDHR3_HUMAN			7	853	+			249			Cadherin 3.		Q8TCI7	Silent	SNP	ENST00000317716.9	37	c.745C>T	CCDS47684.1																																																																																				0.517	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		5	97	0	0	0	1	0	5	97				
ANO7	50636	broad.mit.edu	37	2	242142854	242142854	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:242142854C>T	ENST00000274979.8	+	9	1095	c.992C>T	c.(991-993)cCc>cTc	p.P331L	ANO7_ENST00000402430.3_Missense_Mutation_p.P330L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	331					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AAGTACCAGCCCCTGGACCAC	0.687																																						ENST00000274979.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(991-993)cCc>cTc		anoctamin 7							34.0	28.0	30.0					2																	242142854		2189	4299	6488	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242142854C>T	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.992C>T	2.37:g.242142854C>T	ENSP00000274979:p.Pro331Leu					ANO7_ENST00000402430.3_Missense_Mutation_p.P330L	p.P331L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN			9	1095	+			331					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.992C>T	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566759	0.45694	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.68479	-0.33;-0.33	3.11	2.2	0.27929	.	0.000000	0.64402	U	0.000001	D	0.84170	0.5413	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84635	0.0692	10	0.87932	D	0	.	9.559	0.39357	0.0:0.8866:0.0:0.1134	.	331	Q6IWH7	ANO7_HUMAN	L	331;330	ENSP00000274979:P331L;ENSP00000385418:P330L	ENSP00000274979:P331L	P	+	2	0	ANO7	241791527	0.998000	0.40836	0.563000	0.28383	0.203000	0.24098	3.871000	0.56077	0.403000	0.25479	0.313000	0.20887	CCC		0.687	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		6	10	0	0	0	1	0	6	10				
TCHH	7062	broad.mit.edu	37	1	152082320	152082320	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:152082320T>C	ENST00000368804.1	-	2	3372	c.3373A>G	c.(3373-3375)Aga>Gga	p.R1125G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1125	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cgttcctctctcagcagctgc	0.612																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3373-3375)Aga>Gga		trichohyalin							93.0	94.0	94.0					1																	152082320		1979	4139	6118	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082320T>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3373A>G	1.37:g.152082320T>C	ENSP00000357794:p.Arg1125Gly						p.R1125G	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3372	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1125			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3373A>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	T	5.521	0.281051	0.10458	.	.	ENSG00000159450	ENST00000368804	T	0.06849	3.25	2.38	1.02	0.19986	.	.	.	.	.	T	0.04407	0.0121	L	0.29908	0.895	0.09310	N	1	D	0.58268	0.982	P	0.59171	0.853	T	0.40590	-0.9555	9	0.28530	T	0.3	.	5.1512	0.15011	0.0:0.0:0.3026:0.6974	.	1125	Q07283	TRHY_HUMAN	G	1125	ENSP00000357794:R1125G	ENSP00000357794:R1125G	R	-	1	2	TCHH	150348944	0.001000	0.12720	0.006000	0.13384	0.018000	0.09664	1.171000	0.31896	0.940000	0.37473	0.379000	0.24179	AGA		0.612	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		4	109	0	0	0	1	0	4	109				
FAT3	120114	broad.mit.edu	37	11	92531778	92531778	+	Missense_Mutation	SNP	G	G	A	rs201824046		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr11:92531778G>A	ENST00000298047.6	+	9	5616	c.5599G>A	c.(5599-5601)Gtt>Att	p.V1867I	FAT3_ENST00000409404.2_Missense_Mutation_p.V1867I|FAT3_ENST00000525166.1_Missense_Mutation_p.V1717I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1867	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGAGAGTCCCGTTGAAGTCAA	0.453										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(5599-5601)Gtt>Att		FAT atypical cadherin 3		G	ILE/VAL	0,3996		0,0,1998	112.0	102.0	105.0		5599	5.8	1.0	11		105	2,8340		0,2,4169	yes	missense	FAT3	NM_001008781.2	29	0,2,6167	AA,AG,GG		0.024,0.0,0.0162	benign	1867/4558	92531778	2,12336	1998	4171	6169	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531778G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5599G>A	11.37:g.92531778G>A	ENSP00000298047:p.Val1867Ile	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.V1867I|FAT3_ENST00000525166.1_Missense_Mutation_p.V1717I	p.V1867I			Q8TDW7	FAT3_HUMAN			9	5616	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1867			Cadherin 16.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.5599G>A		.	.	.	.	.	.	.	.	.	.	G	14.01	2.408234	0.42715	0.0	2.4E-4	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.59906	0.23;0.23;0.23	5.82	5.82	0.92795	.	.	.	.	.	T	0.45316	0.1336	L	0.28649	0.875	0.80722	D	1	P	0.40302	0.712	B	0.30401	0.115	T	0.40869	-0.9540	9	0.33141	T	0.24	.	20.0979	0.97857	0.0:0.0:1.0:0.0	.	1867	Q8TDW7-3	.	I	1867;1867;1717	ENSP00000298047:V1867I;ENSP00000387040:V1867I;ENSP00000432586:V1717I	ENSP00000298047:V1867I	V	+	1	0	FAT3	92171426	1.000000	0.71417	0.961000	0.40146	0.968000	0.65278	4.446000	0.60014	2.761000	0.94854	0.591000	0.81541	GTT		0.453	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	30	0	0	0	1	0	6	30				
ACIN1	22985	broad.mit.edu	37	14	23559257	23559257	+	Missense_Mutation	SNP	G	G	C			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr14:23559257G>C	ENST00000262710.1	-	4	871	c.544C>G	c.(544-546)Ctg>Gtg	p.L182V	ACIN1_ENST00000457657.1_Intron|ACIN1_ENST00000555053.1_Missense_Mutation_p.L182V|ACIN1_ENST00000605057.1_Missense_Mutation_p.L124V	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	182	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGAGGCAGCAGGGAAGCCACT	0.582																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(544-546)Ctg>Gtg		apoptotic chromatin condensation inducer 1							47.0	37.0	40.0					14																	23559257		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23559257G>C	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.544C>G	14.37:g.23559257G>C	ENSP00000262710:p.Leu182Val					ACIN1_ENST00000605057.1_Missense_Mutation_p.L124V|ACIN1_ENST00000555053.1_Missense_Mutation_p.L182V|ACIN1_ENST00000457657.1_Intron	p.L182V	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	4	871	-	all_cancers(95;1.36e-05)		182			Glu-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.544C>G	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161520	0.38119	.	.	ENSG00000100813	ENST00000262710;ENST00000555053	T;T	0.14640	2.49;2.49	4.56	3.6	0.41247	.	0.000000	0.30510	N	0.009474	T	0.05914	0.0154	N	0.08118	0	0.80722	D	1	P;B	0.35348	0.496;0.363	B;B	0.30572	0.117;0.055	T	0.40251	-0.9573	10	0.30078	T	0.28	-6.3758	9.339	0.38067	0.0:0.0:0.7864:0.2136	.	182;182	G3V3M7;Q9UKV3	.;ACINU_HUMAN	V	182	ENSP00000262710:L182V;ENSP00000451328:L182V	ENSP00000262710:L182V	L	-	1	2	ACIN1	22629097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.989000	0.40707	2.534000	0.85438	0.484000	0.47621	CTG		0.582	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		3	23	0	0	0	1	0	3	23				
ESAM	90952	broad.mit.edu	37	11	124623669	124623669	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr11:124623669G>A	ENST00000278927.5	-	7	1175	c.1046C>T	c.(1045-1047)aCg>aTg	p.T349M	ESAM_ENST00000442070.2_Intron|VSIG2_ENST00000326621.5_5'Flank|VSIG2_ENST00000403470.1_5'Flank	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	349					blood coagulation (GO:0007596)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)|single organismal cell-cell adhesion (GO:0016337)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CCCATCTGTCGTGGGCAGTCT	0.667																																						ENST00000278927.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1045-1047)aCg>aTg		endothelial cell adhesion molecule							61.0	65.0	64.0					11																	124623669		2201	4299	6500	SO:0001583	missense	90952				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction		g.chr11:124623669G>A	AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17474	protein-coding gene	gene with protein product		614281				11279107, 11906820	Standard	NM_138961		Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.1046C>T	11.37:g.124623669G>A	ENSP00000278927:p.Thr349Met					ESAM_ENST00000442070.2_Intron	p.T349M	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)	7	1175	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	349					B4DVN8|Q96T50	Missense_Mutation	SNP	ENST00000278927.5	37	c.1046C>T	CCDS8453.1	.	.	.	.	.	.	.	.	.	.	G	5.139	0.211283	0.09757	.	.	ENSG00000149564	ENST00000278927	T	0.31247	1.5	5.17	3.29	0.37713	.	0.824366	0.11527	N	0.555074	T	0.19685	0.0473	N	0.19112	0.55	0.80722	D	1	B	0.21309	0.054	B	0.09377	0.004	T	0.03473	-1.1033	10	0.48119	T	0.1	.	8.2581	0.31769	0.0:0.7471:0.1657:0.0872	.	349	Q96AP7	ESAM_HUMAN	M	349	ENSP00000278927:T349M	ENSP00000278927:T349M	T	-	2	0	ESAM	124128879	0.656000	0.27385	0.026000	0.17262	0.028000	0.11728	0.794000	0.26958	0.672000	0.31204	-0.165000	0.13383	ACG		0.667	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324686.1	NM_138961		16	74	0	0	0	1	0	16	74				
LBR	3930	broad.mit.edu	37	1	225591013	225591013	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:225591013T>C	ENST00000338179.2	-	14	1965	c.1840A>G	c.(1840-1842)Atc>Gtc	p.I614V	LBR_ENST00000272163.4_Missense_Mutation_p.I614V	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	614					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		CATTAGTAGATGTATGGAAAT	0.433																																						ENST00000338179.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(1840-1842)Atc>Gtc		lamin B receptor							102.0	99.0	100.0					1																	225591013		2203	4300	6503	SO:0001583	missense	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225591013T>C	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1840A>G	1.37:g.225591013T>C	ENSP00000339883:p.Ile614Val					LBR_ENST00000272163.4_Missense_Mutation_p.I614V	p.I614V	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	14	1965	-	Breast(184;0.165)		614					B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.1840A>G	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	T	3.575	-0.086803	0.07097	.	.	ENSG00000143815	ENST00000272163;ENST00000338179	D;D	0.97870	-4.58;-4.58	6.17	-7.95	0.01148	.	0.879788	0.10140	N	0.710928	D	0.90909	0.7143	N	0.16166	0.38	0.09310	N	1	B	0.09022	0.002	B	0.17722	0.019	T	0.81022	-0.1121	10	0.06625	T	0.88	-5.2438	12.9851	0.58588	0.0:0.5634:0.1021:0.3345	.	614	Q14739	LBR_HUMAN	V	614	ENSP00000272163:I614V;ENSP00000339883:I614V	ENSP00000272163:I614V	I	-	1	0	LBR	223657636	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-0.731000	0.04909	-1.923000	0.01065	-0.290000	0.09829	ATC		0.433	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		9	112	0	0	0	1	0	9	112				
SLCO3A1	28232	broad.mit.edu	37	15	92671666	92671666	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr15:92671666G>A	ENST00000318445.6	+	7	1673	c.1459G>A	c.(1459-1461)Ggg>Agg	p.G487R	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.G487R|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	487	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	TCCAGTGTGTGGGGCAGATGG	0.562																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(1459-1461)Ggg>Agg		solute carrier organic anion transporter family, member 3A1							168.0	130.0	143.0					15																	92671666		2198	4298	6496	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92671666G>A	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1459G>A	15.37:g.92671666G>A	ENSP00000320634:p.Gly487Arg					SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.G487R	p.G487R	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		7	1673	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		487			Kazal-like.		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.1459G>A	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014105	0.93404	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	D;D	0.84589	-1.87;-1.87	5.46	5.46	0.80206	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	D	0.94506	0.8231	M	0.92649	3.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.97110	1.0;1.0;0.944	D	0.95424	0.8510	10	0.87932	D	0	.	19.3038	0.94153	0.0:0.0:1.0:0.0	.	429;487;487	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	R	487;487;206	ENSP00000320634:G487R;ENSP00000387846:G487R	ENSP00000320634:G487R	G	+	1	0	SLCO3A1	90472670	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	9.193000	0.94954	2.569000	0.86673	0.655000	0.94253	GGG		0.562	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		3	150	0	0	0	1	0	3	150				
PCDHGB1	56104	broad.mit.edu	37	5	140729950	140729950	+	Silent	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:140729950C>T	ENST00000523390.1	+	1	123	c.123C>T	c.(121-123)aaC>aaT	p.N41N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	41	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTAGCCAACGGCTCACGGG	0.522											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(121-123)aaC>aaT									51.0	51.0	51.0					5																	140729950		1893	4128	6021	SO:0001819	synonymous_variant	0							g.chr5:140729950C>T	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.123C>T	5.37:g.140729950C>T			OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	p.N41N	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	123	+								Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	c.123C>T	CCDS54923.1																																																																																				0.522	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		5	20	0	0	0	1	0	5	20				
PCDH9	5101	broad.mit.edu	37	13	67205385	67205385	+	Silent	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr13:67205385C>T	ENST00000377865.2	-	3	3431	c.3297G>A	c.(3295-3297)ccG>ccA	p.P1099P	PCDH9_ENST00000456367.1_Silent_p.P1065P|PCDH9_ENST00000328454.5_Silent_p.P1065P|RNU7-87P_ENST00000459343.1_RNA|PCDH9_ENST00000544246.1_Silent_p.P1099P			Q9HC56	PCDH9_HUMAN	protocadherin 9	1099					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCCTCTTGTCCGGAGAGGCCT	0.512																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(3295-3297)ccG>ccA		protocadherin 9							110.0	108.0	109.0					13																	67205385		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67205385C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3297G>A	13.37:g.67205385C>T						PCDH9_ENST00000456367.1_Silent_p.P1065P|PCDH9_ENST00000377865.2_Silent_p.P1099P|PCDH9_ENST00000328454.5_Silent_p.P1065P	p.P1099P	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	4	3988	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	1099					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.3297G>A	CCDS9444.1																																																																																				0.512	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		7	116	0	0	0	1	0	7	116				
CROCCP2	84809	broad.mit.edu	37	1	16957305	16957306	+	lincRNA	INS	-	-	C	rs33996121		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:16957305_16957306insC	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCCCAGACACGCCCCCACCCCC	0.663																																						ENST00000412962.1																			0																																																			0							g.chr1:16957305_16957306insC	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16957310_16957310dupC														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	INS	ENST00000412962.1	37																																																																																						0.663	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	3						3	3	---	---	---	---
ZNF644	84146	broad.mit.edu	37	1	91406039	91406040	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:91406039_91406040insT	ENST00000370440.1	-	3	1088_1089	c.871_872insA	c.(871-873)agafs	p.R291fs	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.R291fs			Q9H582	ZN644_HUMAN	zinc finger protein 644	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTCGCTTTCTTTTTTTTTCT	0.337																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(871-873)aaafs		zinc finger protein 644																																				SO:0001589	frameshift_variant	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91406039_91406040insT	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.872dupA	1.37:g.91406048_91406048dupT	ENSP00000359469:p.Arg291fs					ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.K291fs	p.K291fs			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1088_1089	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	291					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Frame_Shift_Ins	INS	ENST00000370440.1	37	c.871_872insA	CCDS731.1																																																																																				0.337	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		7	54						7	54	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:183515266_183515267insA	ENST00000347615.2	+	17	2655_2656	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_ENST00000456731.2_Frame_Shift_Ins_p.E758fs|SMG7_ENST00000367537.3_Frame_Shift_Ins_p.E829fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.E804fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.E800fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.45																																						ENST00000367537.3																			1	Unknown(1)	p.?(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2485-2487)aaafs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515266_183515267insA	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2545dupA	1.37:g.183515275_183515275dupA	ENSP00000340766:p.Glu846fs					SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs	p.K829fs			Q92540	SMG7_HUMAN			18	2680_2681	+			846			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	ENST00000347615.2	37	c.2485_2486insA	CCDS1355.1																																																																																				0.450	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		7	67						7	67	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98382597	98382597	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:98382597delG	ENST00000186436.5	-	35	4931	c.4703delC	c.(4702-4704)ccafs	p.P1568fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1568						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTTGTGAACTGGAACGGAATC	0.512																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(4702-4704)cafs		transmembrane protein 131							80.0	79.0	79.0					2																	98382597		1869	4103	5972	SO:0001589	frameshift_variant	23505					integral to membrane		g.chr2:98382597delG	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.4703delC	2.37:g.98382597delG	ENSP00000186436:p.Pro1568fs						p.P1568fs	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			35	4931	-			1568						Frame_Shift_Del	DEL	ENST00000186436.5	37	c.4703delC	CCDS46368.1																																																																																				0.512	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		20	49						20	49	---	---	---	---
C2orf82	389084	broad.mit.edu	37	2	233740763	233740763	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:233740763delC	ENST00000409230.1	+	3	434	c.187delC	c.(187-189)cccfs	p.P64fs	C2orf82_ENST00000409533.1_Frame_Shift_Del_p.P64fs|C2orf82_ENST00000331342.2_Frame_Shift_Del_p.P64fs			Q6UX34	CB082_HUMAN	chromosome 2 open reading frame 82	64						cell periphery (GO:0071944)|integral component of membrane (GO:0016021)											GGACACCGGTCCCCCAGCCCC	0.781																																						ENST00000409230.1																			0											c.(187-189)ccfs		chromosome 2 open reading frame 82							3.0	4.0	3.0					2																	233740763		1804	3622	5426	SO:0001589	frameshift_variant	389084					integral to membrane		g.chr2:233740763delC	AY358535, BC035093	CCDS2499.1	2q37.1	2013-10-11			ENSG00000182600	ENSG00000182600			33763	protein-coding gene	gene with protein product						12975309	Standard	NM_206895		Approved	UNQ830, ASCL830	uc002vtr.1	Q6UX34	OTTHUMG00000133273	ENST00000409230.1:c.187delC	2.37:g.233740763delC	ENSP00000386804:p.Pro64fs					C2orf82_ENST00000409533.1_Frame_Shift_Del_p.P64fs|C2orf82_ENST00000331342.2_Frame_Shift_Del_p.P64fs	p.P64fs			Q6UX34	CB082_HUMAN			3	434	+			64						Frame_Shift_Del	DEL	ENST00000409230.1	37	c.187delC	CCDS2499.1																																																																																				0.781	C2orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257052.2	NM_206895		2	4						2	4	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100388502	100388502	+	RNA	DEL	A	A	-	rs5886138		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr7:100388502delA	ENST00000348028.3	+	0	7521				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			aagactgtctaaaaaaaaaaa	0.522																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100388502delA	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100388502delA						ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	7502	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.522	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		3	4						3	4	---	---	---	---
HNRNPKP3	399881	broad.mit.edu	37	11	43283605	43283606	+	RNA	INS	-	-	A	rs377012965|rs201499316		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr11:43283605_43283606insA	ENST00000511537.1	-	0	1329_1330					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		GAAGCAAATGTAAAAAAAAAAA	0.386																																						ENST00000511537.1																			0																																																			0							g.chr11:43283605_43283606insA			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283616_43283616dupA								NR_033868.1						0	1329_1330	-									RNA	INS	ENST00000511537.1	37																																																																																						0.386	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868		3	6						3	6	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs25559|rs10665556	byFrequency	TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351														3178	0.634585	0.7088	0.611	5008	,	,		12379	0.8274		0.4284	False		,,,				2504	0.5644					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41																																														0							g.chr12:31269189_31269190insATCAT																													12.37:g.31269189_31269190insATCAT														0	165	-									RNA	INS	ENST00000542490.1	37																																																																																						0.351	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			5	3						5	3	---	---	---	---
GLTSCR1	29998	broad.mit.edu	37	19	48204803	48204805	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr19:48204803_48204805delTCC	ENST00000396720.3	+	15	4008_4010	c.3814_3816delTCC	c.(3814-3816)tccdel	p.S1276del	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1276	Poly-Ser.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		gtcctcctcttcctcctcctcct	0.719																																						ENST00000396720.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(3814-3816)del		glioma tumor suppressor candidate region gene 1				57,3605		20,17,1794						-3.1	0.0			8	135,7387		47,41,3673	no	coding	GLTSCR1	NM_015711.3		67,58,5467	A1A1,A1R,RR		1.7947,1.5565,1.7167				192,10992				SO:0001651	inframe_deletion	29998						protein binding	g.chr19:48204803_48204805delTCC	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.3814_3816delTCC	19.37:g.48204812_48204814delTCC	ENSP00000379946:p.Ser1276del					CTD-2571L23.8_ENST00000599924.1_lincRNA	p.S1276del	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	15	4008_4010	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	1276			Poly-Ser.		A8MW01	In_Frame_Del	DEL	ENST00000396720.3	37	c.3814_3816delTCC	CCDS46134.1																																																																																				0.719	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		2	4						2	4	---	---	---	---
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Intron	DEL	T	T	-	rs77187934		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr19:52877717delT	ENST00000422689.2	+	3	283				ZNF880_ENST00000597976.1_Frame_Shift_Del_p.I102fs|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000600321.1_Intron	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473																																						ENST00000597976.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(304-306)atfs		zinc finger protein 880				279,569,2978		19,4,237,24,517,1112	16.0	16.0	16.0			1.2	0.0	19		17	673,1156,5999		28,27,590,42,1045,2182	no	intron	ZNF880	NM_001145434.1		47,31,827,66,1562,3294	A1A1,A1A2,A1R,A2A2,A2R,RR		23.3648,22.1641,22.9707			52877717	952,1725,8977	692	1591	2283	SO:0001627	intron_variant	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52877717delT	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.268+37T>-	19.37:g.52877717delT						ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000424032.2_Intron	p.I102fs			Q6PDB4	ZN880_HUMAN			3	325	+			0					B4DNA6	Frame_Shift_Del	DEL	ENST00000422689.2	37	c.305delT	CCDS46164.1																																																																																				0.473	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		2	4						2	4	---	---	---	---
