#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
ORM1	5004	broad.mit.edu	37	9	117086322	117086322	+	Silent	SNP	C	C	G			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr9:117086322C>G	ENST00000259396.8	+	3	360	c.282C>G	c.(280-282)acC>acG	p.T94T	ORM1_ENST00000538816.1_3'UTR|ORM1_ENST00000477456.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	94					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Abiraterone(DB05812)|Acenocoumarol(DB01418)|Ajmaline(DB01426)|Alfentanil(DB00802)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aprindine(DB01429)|Bupropion(DB01156)|Canagliflozin(DB08907)|Celecoxib(DB00482)|Chlorpromazine(DB00477)|Desipramine(DB01151)|Disopyramide(DB00280)|Doxazosin(DB00590)|Doxepin(DB01142)|Erlotinib(DB00530)|Fluoxetine(DB00472)|Gefitinib(DB00317)|Imatinib(DB00619)|Imipramine(DB00458)|Ivacaftor(DB08820)|Maprotiline(DB00934)|Mirabegron(DB08893)|Nateglinide(DB00731)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxycodone(DB00497)|Penbutolol(DB01359)|Pethidine(DB00454)|Phenprocoumon(DB00946)|Pitavastatin(DB08860)|Prazosin(DB00457)|Propranolol(DB00571)|Quinidine(DB00908)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Tamsulosin(DB00706)|Telaprevir(DB05521)|Thalidomide(DB01041)|Trazodone(DB00656)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Vismodegib(DB08828)|Warfarin(DB00682)	TCTATAACACCACCTACCTGA	0.552																																						ENST00000259396.8																			0				endometrium(2)|large_intestine(4)|lung(2)	8						c.(280-282)acC>acG		orosomucoid 1	Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)						151.0	160.0	157.0					9																	117086322		2203	4300	6503	SO:0001819	synonymous_variant	5004				acute-phase response|regulation of immune system process|transport	extracellular space	protein binding	g.chr9:117086322C>G		CCDS6803.1	9q32	2013-09-19			ENSG00000229314	ENSG00000229314		"""Lipocalins"""	8498	protein-coding gene	gene with protein product		138600					Standard	NM_000607		Approved		uc004bik.4	P02763	OTTHUMG00000021012	ENST00000259396.8:c.282C>G	9.37:g.117086322C>G						ORM1_ENST00000477456.1_3'UTR|ORM1_ENST00000538816.1_3'UTR	p.T94T	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN			3	360	+		Myeloproliferative disorder(63;0.163)	94					B7ZKQ5|Q5T539|Q5U067|Q8TC16	Silent	SNP	ENST00000259396.8	37	c.282C>G	CCDS6803.1																																																																																				0.552	ORM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055426.1			30	224	0	0	0	1	0	30	224				
ZNF2	7549	broad.mit.edu	37	2	95843249	95843249	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr2:95843249G>A	ENST00000340539.5	+	3	517	c.55G>A	c.(55-57)Gtt>Att	p.V19I	ZNF2_ENST00000398107.2_De_novo_Start_OutOfFrame|ZNF2_ENST00000453539.2_Missense_Mutation_p.V19I|ZNF2_ENST00000295210.6_Missense_Mutation_p.V19I|ZNF2_ENST00000425369.1_De_novo_Start_OutOfFrame	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	19	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ATTCGAAGACGTTGCCGTGGT	0.443																																						ENST00000398107.2																			0				endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12								zinc finger protein 2							177.0	172.0	173.0					2																	95843249		1982	4183	6165	SO:0001583	missense	7549				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95843249G>A	X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"""Zinc fingers, C2H2-type"", ""-"""	12991	protein-coding gene	gene with protein product		194500	"""zinc finger protein 2 (A1-5)"""			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.55G>A	2.37:g.95843249G>A	ENSP00000345392:p.Val19Ile					ZNF2_ENST00000425369.1_De_novo_Start_OutOfFrame|ZNF2_ENST00000453539.2_Missense_Mutation_p.V19I|ZNF2_ENST00000340539.5_Missense_Mutation_p.V19I|ZNF2_ENST00000295210.6_Missense_Mutation_p.V19I		NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN		READ - Rectum adenocarcinoma(193;0.0222)	0	451	+		Ovarian(717;0.00768)						A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Translation_Start_Site	SNP	ENST00000340539.5	37		CCDS42712.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926679	0.52759	.	.	ENSG00000163067	ENST00000340539;ENST00000295210;ENST00000453539	T;T;T	0.08720	3.06;3.06;3.06	5.07	5.07	0.68467	Krueppel-associated box (4);	0.000000	0.42964	D	0.000636	T	0.32346	0.0826	M	0.83692	2.655	0.32804	D	0.500571	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.46034	-0.9220	10	0.87932	D	0	-19.2748	15.9862	0.80155	0.0:0.0:1.0:0.0	.	19;19	B4DIR4;Q9BSG1	.;ZNF2_HUMAN	I	19	ENSP00000345392:V19I;ENSP00000295210:V19I;ENSP00000411051:V19I	ENSP00000295210:V19I	V	+	1	0	ZNF2	95206976	1.000000	0.71417	0.850000	0.33497	0.081000	0.17604	4.402000	0.59722	2.623000	0.88846	0.609000	0.83330	GTT		0.443	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088		46	130	0	0	0	1	0	46	130				
C12orf71	728858	broad.mit.edu	37	12	27234344	27234344	+	Silent	SNP	G	G	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr12:27234344G>A	ENST00000429849.2	-	2	603	c.573C>T	c.(571-573)atC>atT	p.I191I		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	191										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GCTCTGACAGGATTGAGGAGA	0.537																																						ENST00000429849.2																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						c.(571-573)atC>atT		chromosome 12 open reading frame 71							161.0	147.0	152.0					12																	27234344		2076	4215	6291	SO:0001819	synonymous_variant	728858							g.chr12:27234344G>A		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.573C>T	12.37:g.27234344G>A							p.I191I	NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN			2	603	-			191						Silent	SNP	ENST00000429849.2	37	c.573C>T	CCDS44851.1																																																																																				0.537	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	NM_001080406		55	51	0	0	0	1	0	55	51				
AOC1	26	broad.mit.edu	37	7	150553564	150553564	+	Silent	SNP	G	G	A	rs565800850		TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr7:150553564G>A	ENST00000493429.1	+	4	590	c.6G>A	c.(4-6)ccG>ccA	p.P2P	AOC1_ENST00000416793.2_Silent_p.P2P|AOC1_ENST00000360937.4_Silent_p.P2P|AOC1_ENST00000467291.1_Silent_p.P2P			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	2					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.P2P(1)								Amiloride(DB00594)	GAGAGATGCCGGCCCTGGGCT	0.607													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19665	0.0		0.0	False		,,,				2504	0.0					ENST00000493429.1																			1	Substitution - coding silent(1)	p.P2P(1)	lung(1)								c.(4-6)ccG>ccA		amine oxidase, copper containing 1							28.0	30.0	29.0					7																	150553564		1933	4130	6063	SO:0001819	synonymous_variant	26							g.chr7:150553564G>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.6G>A	7.37:g.150553564G>A						AOC1_ENST00000360937.4_Silent_p.P2P|AOC1_ENST00000467291.1_Silent_p.P2P|AOC1_ENST00000416793.2_Silent_p.P2P	p.P2P							4	590	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	c.6G>A	CCDS43679.1																																																																																				0.607	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		27	35	0	0	0	1	0	27	35				
TIMMDC1	51300	broad.mit.edu	37	3	119217604	119217604	+	Silent	SNP	G	G	T			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr3:119217604G>T	ENST00000494664.1	+	1	226	c.24G>T	c.(22-24)ccG>ccT	p.P8P	TIMMDC1_ENST00000493694.1_Silent_p.P8P|RP11-190C22.8_ENST00000609598.1_lincRNA	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	8						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						CACCGGCACCGCGGAGCTTTC	0.602																																						ENST00000494664.1																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(22-24)ccG>ccT		translocase of inner mitochondrial membrane domain containing 1							97.0	106.0	102.0					3																	119217604		2203	4300	6503	SO:0001819	synonymous_variant	51300					integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr3:119217604G>T	AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"""chromosome 3 open reading frame 1"""	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.24G>T	3.37:g.119217604G>T						TIMMDC1_ENST00000493694.1_Silent_p.P8P	p.P8P	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN			1	226	+			8					D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Silent	SNP	ENST00000494664.1	37	c.24G>T	CCDS33831.1																																																																																				0.602	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589		75	100	1	0	2.14232e-31	1	2.53696e-31	75	100				
RAP1A	5906	broad.mit.edu	37	1	112240072	112240072	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:112240072G>A	ENST00000369709.3	+	4	315	c.136G>A	c.(136-138)Gtc>Atc	p.V46I	RAP1A_ENST00000436150.2_Missense_Mutation_p.V46I|RAP1A_ENST00000356415.1_Missense_Mutation_p.V46I|RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000545460.1_Missense_Mutation_p.V46I	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	46					activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		GCAAGTTGAAGTCGATTGCCA	0.358																																						ENST00000369709.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(136-138)Gtc>Atc		RAP1A, member of RAS oncogene family							151.0	156.0	154.0					1																	112240072		2203	4300	6503	SO:0001583	missense	5906				activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr1:112240072G>A	BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000369709.3:c.136G>A	1.37:g.112240072G>A	ENSP00000358723:p.Val46Ile					RAP1A_ENST00000436150.2_Missense_Mutation_p.V46I|RAP1A_ENST00000356415.1_Missense_Mutation_p.V46I|RAP1A_ENST00000545460.1_Missense_Mutation_p.V46I|RAP1A_ENST00000494982.1_3'UTR	p.V46I	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)	4	315	+		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)	46					P10113	Missense_Mutation	SNP	ENST00000369709.3	37	c.136G>A	CCDS840.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834554	0.50951	.	.	ENSG00000116473	ENST00000356415;ENST00000433097;ENST00000369709;ENST00000436150;ENST00000545460	T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47	5.33	5.33	0.75918	Small GTP-binding protein domain (1);	0.060932	0.64402	D	0.000004	T	0.38852	0.1056	N	0.20881	0.62	0.80722	D	1	B	0.02656	0.0	B	0.11329	0.006	T	0.47522	-0.9111	10	0.02654	T	1	.	18.999	0.92826	0.0:0.0:1.0:0.0	.	46	P62834	RAP1A_HUMAN	I	46	ENSP00000348786:V46I;ENSP00000396741:V46I;ENSP00000358723:V46I;ENSP00000394318:V46I;ENSP00000443009:V46I	ENSP00000348786:V46I	V	+	1	0	RAP1A	112041595	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.652000	0.90054	0.650000	0.86243	GTC		0.358	RAP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033071.1	NM_002884		30	32	0	0	0	1	0	30	32				
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		610	Substitution - Missense(609)|Complex(1)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		neuroblastoma RAS viral (v-ras) oncogene homolog							180.0	156.0	164.0					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61K	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	434	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		84	106	1	0	2.67039e-37	1	3.24777e-37	84	106				
DIS3	22894	broad.mit.edu	37	13	73345948	73345948	+	Silent	SNP	C	C	T			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr13:73345948C>T	ENST00000377767.4	-	11	1690	c.1590G>A	c.(1588-1590)gtG>gtA	p.V530V	DIS3_ENST00000545453.1_Silent_p.V368V|DIS3_ENST00000377780.4_Silent_p.V500V	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	530					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CACAAAGATACACAGTTGTTC	0.338										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(1588-1590)gtG>gtA		DIS3 mitotic control homolog (S. cerevisiae)							85.0	85.0	85.0					13																	73345948		2203	4300	6503	SO:0001819	synonymous_variant	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73345948C>T	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1590G>A	13.37:g.73345948C>T		Multiple Myeloma(4;0.011)				DIS3_ENST00000545453.1_Silent_p.V368V|DIS3_ENST00000377780.4_Silent_p.V500V	p.V530V	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	11	1690	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	530					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Silent	SNP	ENST00000377767.4	37	c.1590G>A	CCDS9447.1																																																																																				0.338	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		7	73	0	0	0	1	0	7	73				
DCANP1	140947	broad.mit.edu	37	5	134785192	134785192	+	5'Flank	SNP	G	G	A	rs377099358		TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr5:134785192G>A	ENST00000503143.2	-	0	0				CTB-138E5.1_ENST00000510230.1_RNA|TIFAB_ENST00000537858.1_Silent_p.D146D	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN								nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTCCCATTCGTCAGTTTCCT	0.572																																						ENST00000537858.1																			0				breast(1)|endometrium(1)|liver(1)|lung(5)	8						c.(436-438)gaC>gaT		TRAF-interacting protein with forkhead-associated domain, family member B		G		1,3897		0,1,1948	61.0	65.0	64.0		438	-10.6	0.0	5		64	0,8280		0,0,4140	no	coding-synonymous	TIFAB	NM_001099221.1		0,1,6088	AA,AG,GG		0.0,0.0257,0.0082		146/162	134785192	1,12177	1949	4140	6089	SO:0001631	upstream_gene_variant	497189							g.chr5:134785192G>A																													5.37:g.134785192G>A	Exception_encountered						p.D146D	NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	638	-			146						Silent	SNP	ENST00000503143.2	37	c.438C>T	CCDS4186.1																																																																																				0.572	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			42	63	0	0	0	1	0	42	63				
TIMMDC1	51300	broad.mit.edu	37	3	119217605	119217605	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr3:119217605C>T	ENST00000494664.1	+	1	227	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	TIMMDC1_ENST00000493694.1_Missense_Mutation_p.R9W|RP11-190C22.8_ENST00000609598.1_lincRNA	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	9						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						ACCGGCACCGCGGAGCTTTCT	0.602																																						ENST00000494664.1																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(25-27)Cgg>Tgg		translocase of inner mitochondrial membrane domain containing 1							98.0	107.0	104.0					3																	119217605		2203	4300	6503	SO:0001583	missense	51300					integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr3:119217605C>T	AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"""chromosome 3 open reading frame 1"""	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.25C>T	3.37:g.119217605C>T	ENSP00000418803:p.Arg9Trp					TIMMDC1_ENST00000493694.1_Missense_Mutation_p.R9W	p.R9W	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN			1	227	+			9					D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Missense_Mutation	SNP	ENST00000494664.1	37	c.25C>T	CCDS33831.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841730	0.51057	.	.	ENSG00000113845	ENST00000494664;ENST00000493694;ENST00000466984	T;T;T	0.57273	1.15;0.51;0.41	4.85	0.82	0.18793	.	0.639946	0.15296	N	0.269887	T	0.44117	0.1278	L	0.57536	1.79	0.09310	N	1	D	0.60575	0.988	P	0.44477	0.451	T	0.42241	-0.9463	10	0.72032	D	0.01	0.0265	2.5516	0.04750	0.3432:0.3965:0.1667:0.0936	.	9	Q9NPL8	TIDC1_HUMAN	W	9	ENSP00000418803:R9W;ENSP00000419510:R9W;ENSP00000420122:R9W	ENSP00000264244:R9W	R	+	1	2	TIMMDC1	120700295	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	0.019000	0.13444	0.276000	0.22118	0.650000	0.86243	CGG		0.602	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589		76	101	0	0	0	1	0	76	101				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		6	96	0	0	0	1	0	6	96				
SHANK2	22941	broad.mit.edu	37	11	70333190	70333190	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr11:70333190C>T	ENST00000423696.2	-	15	2107	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	SHANK2_ENST00000449833.2_Missense_Mutation_p.E475K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E474K|SHANK2_ENST00000338508.4_Missense_Mutation_p.E1071K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	691					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTCAGGCTTTCGTCAGGCCGC	0.701																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3211-3213)Gaa>Aaa		SH3 and multiple ankyrin repeat domains 2							31.0	36.0	34.0					11																	70333190		2180	4244	6424	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333190C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2071G>A	11.37:g.70333190C>T	ENSP00000394536:p.Glu691Lys					SHANK2_ENST00000449833.2_Missense_Mutation_p.E475K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E474K|SHANK2_ENST00000423696.2_Missense_Mutation_p.E691K	p.E1071K			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3210	-			691					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3211G>A		.	.	.	.	.	.	.	.	.	.	C	15.46	2.839087	0.51057	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	4.73	4.73	0.59995	.	0.046857	0.85682	D	0.000000	T	0.30603	0.0770	N	0.24115	0.695	0.80722	D	1	B;B;B	0.32731	0.002;0.382;0.165	B;B;B	0.25987	0.002;0.049;0.065	T	0.13098	-1.0522	10	0.44086	T	0.13	.	17.6921	0.88271	0.0:1.0:0.0:0.0	.	691;1070;475	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	K	475;474;349;1071;691;709;694	ENSP00000399423:E475K;ENSP00000386491:E474K;ENSP00000402944:E349K;ENSP00000345193:E1071K;ENSP00000394536:E691K;ENSP00000294018:E694K	ENSP00000294018:E694K	E	-	1	0	SHANK2	70010838	1.000000	0.71417	0.902000	0.35471	0.596000	0.36781	7.290000	0.78711	2.182000	0.69389	0.561000	0.74099	GAA		0.701	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		29	47	0	0	0	1	0	29	47				
CCDC129	223075	broad.mit.edu	37	7	31592727	31592727	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr7:31592727C>T	ENST00000407970.3	+	2	127	c.89C>T	c.(88-90)gCg>gTg	p.A30V	CCDC129_ENST00000409210.1_5'Flank|CCDC129_ENST00000319386.3_Missense_Mutation_p.A30V|CCDC129_ENST00000451887.2_Missense_Mutation_p.A56V|CCDC129_ENST00000482748.1_Intron	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	30										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACCAAAAGCGCGTGGGCTCCG	0.537																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(88-90)gCg>gTg		coiled-coil domain containing 129																																				SO:0001583	missense	223075							g.chr7:31592727C>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.89C>T	7.37:g.31592727C>T	ENSP00000384416:p.Ala30Val					CCDC129_ENST00000407970.3_Missense_Mutation_p.A30V|CCDC129_ENST00000482748.1_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.A56V	p.A30V			Q6ZRS4	CC129_HUMAN			2	1082	+			30					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.89C>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	5.912	0.352423	0.11182	.	.	ENSG00000180347	ENST00000409717;ENST00000456011;ENST00000319386;ENST00000407970;ENST00000454513;ENST00000451887;ENST00000538406	T;T;T;T;T;T	0.52754	0.65;0.71;1.96;2.13;0.68;2.12	5.35	2.59	0.31030	.	0.000000	0.45606	D	0.000352	T	0.32971	0.0847	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.30211	0.273;0.273;0.273;0.273	B;B;B;B	0.28305	0.088;0.088;0.088;0.066	T	0.13764	-1.0497	10	0.23891	T	0.37	-8.7493	10.6813	0.45815	0.0:0.8304:0.0:0.1696	.	56;40;30;30	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	V	30;30;30;30;30;56;40	ENSP00000387220:A30V;ENSP00000390544:A30V;ENSP00000313062:A30V;ENSP00000384416:A30V;ENSP00000413233:A30V;ENSP00000395835:A56V	ENSP00000313062:A30V	A	+	2	0	CCDC129	31559252	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.151000	0.16283	0.493000	0.27837	-0.940000	0.02684	GCG		0.537	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		10	7	0	0	0	1	0	10	7				
TTN	7273	broad.mit.edu	37	2	179476842	179476842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr2:179476842G>A	ENST00000591111.1	-	217	45597	c.45373C>T	c.(45373-45375)Cga>Tga	p.R15125*	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R16766*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R14198*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R7893*|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R7826*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R7701*			Q8WZ42	TITIN_HUMAN	titin	15125	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TCAACATGTCGTTTTGTCACA	0.403																																						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.(50296-50298)Cga>Tga		titin							106.0	94.0	98.0					2																	179476842		1874	4098	5972	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179476842G>A	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.45373C>T	2.37:g.179476842G>A	ENSP00000465570:p.Arg15125*					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R15125*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R7701*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R7826*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R14198*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R7893*|TTN-AS1_ENST00000456053.1_RNA	p.R16766*	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)		267	50520	-			15125			Ig-like 101.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.50296C>T		.	.	.	.	.	.	.	.	.	.	G	59	37.731312	0.99984	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.17	0.537	0.17144	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.6047	0.45388	0.0:0.1944:0.2015:0.604	.	.	.	.	X	14198;7701;7893;7826;7701	.	ENSP00000340554:R7893X	R	-	1	2	TTN	179185087	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	1.702000	0.37836	0.136000	0.18733	0.655000	0.94253	CGA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	14	0	0	0	1	0	16	14				
HIST1H4E	8367	broad.mit.edu	37	6	26204872	26204872	+	De_novo_Start_InFrame	SNP	C	C	A	rs144621549		TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr6:26204872C>A	ENST00000360441.4	+	0	15					NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e						CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	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)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GTGTGTTGGTCATGTCTGGTC	0.498																																						ENST00000360441.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18								histone cluster 1, H4e							66.0	70.0	69.0					6																	26204872		2203	4300	6503			8367				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26204872C>A	Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441		6.37:g.26204872C>A								NM_003545.3	NP_003536.1	P62805	H4_HUMAN			0	15	+		all_hematologic(11;0.196)						A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Translation_Start_Site	SNP	ENST00000360441.4	37		CCDS4593.1																																																																																				0.498	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		46	67	1	0	4.01344e-20	1	4.63089e-20	46	67				
FBXO11	80204	broad.mit.edu	37	2	48066036	48066036	+	Silent	SNP	A	A	G			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr2:48066036A>G	ENST00000403359.3	-	4	621	c.549T>C	c.(547-549)tgT>tgC	p.C183C	FBXO11_ENST00000378314.3_Silent_p.C65C|FBXO11_ENST00000402508.1_Silent_p.C99C|FBXO11_ENST00000316377.4_Silent_p.C99C|FBXO11_ENST00000480038.1_5'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	183	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGAAGCGTTTACATACACAAG	0.368			"""Mis, F, D"""		DLBCL																																	ENST00000403359.3				Rec	yes		2	2p16.3	80204	"""Mis, F, D"""	F-box protein 11			L			DLBCL		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(547-549)tgT>tgC		F-box protein 11							114.0	105.0	108.0					2																	48066036		2203	4300	6503	SO:0001819	synonymous_variant	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48066036A>G	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.549T>C	2.37:g.48066036A>G						FBXO11_ENST00000378314.3_Silent_p.C65C|FBXO11_ENST00000316377.4_Silent_p.C99C|FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000402508.1_Silent_p.C99C	p.C183C	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	621	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	183			F-box.		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Silent	SNP	ENST00000403359.3	37	c.549T>C	CCDS54357.1																																																																																				0.368	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		28	27	0	0	0	1	0	28	27				
PRKDC	5591	broad.mit.edu	37	8	48686858	48686858	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr8:48686858T>C	ENST00000314191.2	-	87	12316	c.12260A>G	c.(12259-12261)aAc>aGc	p.N4087S	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.N4056S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	4088					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GGCACGAATGTTGTGATCTTT	0.512								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(12259-12261)aAc>aGc	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							106.0	99.0	102.0					8																	48686858		1969	4137	6106	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48686858T>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.12260A>G	8.37:g.48686858T>C	ENSP00000313420:p.Asn4087Ser					PRKDC_ENST00000338368.3_Missense_Mutation_p.N4056S|PRKDC_ENST00000523565.1_5'UTR	p.N4087S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			87	12316	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	4088					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.12260A>G		.	.	.	.	.	.	.	.	.	.	T	14.08	2.428276	0.43122	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02552	4.25;4.27	5.86	4.71	0.59529	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.139910	0.64402	N	0.000007	T	0.04588	0.0125	L	0.58583	1.82	0.58432	D	0.999994	B;B	0.23442	0.047;0.085	B;B	0.21151	0.033;0.032	T	0.32428	-0.9907	10	0.40728	T	0.16	.	11.8871	0.52608	0.0:0.0682:0.0:0.9318	.	4056;4088	E7EUY0;P78527	.;PRKDC_HUMAN	S	4087;4056	ENSP00000313420:N4087S;ENSP00000345182:N4056S	ENSP00000313420:N4087S	N	-	2	0	PRKDC	48849411	1.000000	0.71417	0.796000	0.32109	0.297000	0.27493	4.006000	0.57083	1.044000	0.40200	0.528000	0.53228	AAC		0.512	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		9	12	0	0	0	1	0	9	12				
LRRC3	81543	broad.mit.edu	37	21	45876948	45876948	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr21:45876948C>T	ENST00000291592.4	+	2	738	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	LRRC3-AS1_ENST00000426578.1_RNA|LRRC3DN_ENST00000596691.1_5'Flank	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	141						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CGCCAAGATACGCCTGTCCCA	0.672																																						ENST00000291592.4																			0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(421-423)Cgc>Tgc		leucine rich repeat containing 3							40.0	42.0	41.0					21																	45876948		2203	4300	6503	SO:0001583	missense	81543					integral to membrane	protein binding	g.chr21:45876948C>T	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 102"""	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.421C>T	21.37:g.45876948C>T	ENSP00000291592:p.Arg141Cys						p.R141C	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	2	738	+		Breast(209;0.00908)	141					Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	c.421C>T	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163856	0.78226	.	.	ENSG00000160233	ENST00000291592	D	0.90385	-2.66	4.82	4.82	0.62117	.	0.186781	0.46758	D	0.000271	D	0.93344	0.7878	L	0.54323	1.7	0.58432	D	0.999997	D	0.89917	1.0	D	0.63703	0.917	D	0.92710	0.6182	10	0.39692	T	0.17	-60.251	17.9134	0.88942	0.0:1.0:0.0:0.0	.	141	Q9BY71	LRRC3_HUMAN	C	141	ENSP00000291592:R141C	ENSP00000291592:R141C	R	+	1	0	LRRC3	44701376	0.967000	0.33354	1.000000	0.80357	0.988000	0.76386	0.761000	0.26489	2.397000	0.81536	0.561000	0.74099	CGC		0.672	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3			13	65	0	0	0	1	0	13	65				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			0							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		4	26	0	0	0	1	0	4	26				
ADCY1	107	broad.mit.edu	37	7	45688322	45688322	+	Silent	SNP	G	G	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr7:45688322G>A	ENST00000297323.7	+	5	1096	c.1074G>A	c.(1072-1074)tcG>tcA	p.S358S	ADCY1_ENST00000432715.1_Silent_p.S133S	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	358					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACTGCGTGTCGGGCCTCACCC	0.577																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1072-1074)tcG>tcA		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						113.0	90.0	98.0					7																	45688322		2203	4300	6503	SO:0001819	synonymous_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45688322G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1074G>A	7.37:g.45688322G>A						ADCY1_ENST00000432715.1_Silent_p.S133S	p.S358S	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			5	1096	+			358					A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	c.1074G>A	CCDS34631.1																																																																																				0.577	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		15	41	0	0	0	1	0	15	41				
PFKFB4	5210	broad.mit.edu	37	3	48561154	48561154	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr3:48561154T>C	ENST00000232375.3	-	11	1314	c.1202A>G	c.(1201-1203)tAc>tGc	p.Y401C	PFKFB4_ENST00000416568.1_Missense_Mutation_p.Y394C|PFKFB4_ENST00000383734.2_Missense_Mutation_p.Y366C|PFKFB4_ENST00000541519.1_Missense_Mutation_p.Y367C|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000536104.1_Missense_Mutation_p.Y390C	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	401	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTCGAGGAAGTAGGCCAGCAG	0.602																																						ENST00000232375.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(1201-1203)tAc>tGc		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4							103.0	89.0	94.0					3																	48561154		2203	4300	6503	SO:0001583	missense	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48561154T>C	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.1202A>G	3.37:g.48561154T>C	ENSP00000232375:p.Tyr401Cys					PFKFB4_ENST00000383734.2_Missense_Mutation_p.Y366C|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000416568.1_Missense_Mutation_p.Y394C|PFKFB4_ENST00000541519.1_Missense_Mutation_p.Y367C|PFKFB4_ENST00000536104.1_Missense_Mutation_p.Y390C	p.Y401C	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	11	1314	-			401			Fructose-2,6-bisphosphatase.		Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	ENST00000232375.3	37	c.1202A>G	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.165114	0.78339	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519	.	.	.	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.87164	0.6109	H	0.97315	3.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;0.999;1.0	D	0.90752	0.4658	9	0.87932	D	0	-20.2928	11.9822	0.53125	0.0:0.0:0.0:1.0	.	390;366;394;401	B7Z5C3;Q5XLC2;Q66S35;Q16877	.;.;.;F264_HUMAN	C	401;390;394;366;367	.	ENSP00000232375:Y401C	Y	-	2	0	PFKFB4	48536158	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.804000	0.85993	1.915000	0.55452	0.460000	0.39030	TAC		0.602	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		40	39	0	0	0	1	0	40	39				
FCRL2	79368	broad.mit.edu	37	1	157739926	157739926	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:157739926G>A	ENST00000361516.3	-	4	373	c.325C>T	c.(325-327)Cct>Tct	p.P109S	FCRL2_ENST00000469986.1_5'Flank|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.P109S	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	109	Ig-like C2-type 2.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTCAGCACAGGACGTTGAAAG	0.532																																						ENST00000361516.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51						c.(325-327)Cct>Tct		Fc receptor-like 2							43.0	43.0	43.0					1																	157739926		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157739926G>A	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.325C>T	1.37:g.157739926G>A	ENSP00000355157:p.Pro109Ser					FCRL2_ENST00000392274.3_Missense_Mutation_p.P109S|FCRL2_ENST00000368181.4_Intron	p.P109S	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	373	-	all_hematologic(112;0.0378)		109			Ig-like C2-type 2.		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.325C>T	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.906855	0.52333	.	.	ENSG00000132704	ENST00000361516;ENST00000392274	T;T	0.26957	1.7;1.7	4.09	3.16	0.36331	Immunoglobulin-like (1);	0.000000	0.34828	U	0.003650	T	0.43612	0.1255	M	0.92367	3.3	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.98;0.997;0.996	T	0.36768	-0.9734	10	0.56958	D	0.05	.	9.2901	0.37782	0.0:0.0:0.7855:0.2145	.	109;109;109	B4E0W2;B4DVJ9;Q96LA5	.;.;FCRL2_HUMAN	S	109	ENSP00000355157:P109S;ENSP00000376100:P109S	ENSP00000355157:P109S	P	-	1	0	FCRL2	156006550	0.844000	0.29557	0.005000	0.12908	0.196000	0.23810	2.768000	0.47645	1.047000	0.40274	0.591000	0.81541	CCT		0.532	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		25	23	0	0	0	1	0	25	23				
PITX2	5308	broad.mit.edu	37	4	111539567	111539567	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr4:111539567G>C	ENST00000354925.2	-	7	2373	c.668C>G	c.(667-669)tCg>tGg	p.S223W	PITX2_ENST00000394595.3_Silent_p.V154V|RP11-380D23.2_ENST00000503456.1_lincRNA|PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000355080.5_Missense_Mutation_p.S177W|PITX2_ENST00000394598.2_Missense_Mutation_p.S223W|PITX2_ENST00000306732.3_Missense_Mutation_p.S230W	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	223					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S230L(1)|p.S223L(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CATGCTGGACGACATGCTCAT	0.547																																						ENST00000354925.2																			2	Substitution - Missense(2)	p.S230L(1)|p.S223L(1)	endometrium(2)	breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(667-669)tCg>tGg		paired-like homeodomain 2							77.0	75.0	76.0					4																	111539567		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111539567G>C	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.668C>G	4.37:g.111539567G>C	ENSP00000347004:p.Ser223Trp					PITX2_ENST00000394598.2_Missense_Mutation_p.S223W|PITX2_ENST00000306732.3_Missense_Mutation_p.S230W|PITX2_ENST00000394595.3_Silent_p.V154V|PITX2_ENST00000355080.5_Missense_Mutation_p.S177W	p.S223W	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	7	2373	-		Hepatocellular(203;0.217)	223					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.668C>G	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547750	0.65311	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837	D;D;D;D;D	0.93763	-2.93;-3.05;-3.2;-3.05;-3.28	5.25	5.25	0.73442	.	0.107193	0.64402	D	0.000004	D	0.94958	0.8369	L	0.43923	1.385	0.80722	D	1	P;D;D;D	0.67145	0.946;0.969;0.996;0.993	P;B;D;P	0.64687	0.708;0.442;0.928;0.902	D	0.94679	0.7863	10	0.51188	T	0.08	.	19.0324	0.92963	0.0:0.0:1.0:0.0	.	177;177;223;230	A8K6C6;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	W	230;223;177;223;223	ENSP00000304169:S230W;ENSP00000378097:S223W;ENSP00000347192:S177W;ENSP00000347004:S223W;ENSP00000421454:S223W	ENSP00000304169:S230W	S	-	2	0	PITX2	111759016	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.737000	0.93849	0.563000	0.77884	TCG		0.547	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			32	38	0	0	0	1	0	32	38				
SCN11A	11280	broad.mit.edu	37	3	38889182	38889182	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr3:38889182G>A	ENST00000302328.3	-	26	4577	c.4379C>T	c.(4378-4380)aCg>aTg	p.T1460M	SCN11A_ENST00000456224.3_Missense_Mutation_p.T1422M|SCN11A_ENST00000450244.1_Missense_Mutation_p.T1460M	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1460					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTGAAGAGCGTCGGAGGGAA	0.493																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(4378-4380)aCg>aTg		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						40.0	44.0	42.0					3																	38889182		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38889182G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4379C>T	3.37:g.38889182G>A	ENSP00000307599:p.Thr1460Met					SCN11A_ENST00000456224.3_Missense_Mutation_p.T1422M|SCN11A_ENST00000450244.1_Missense_Mutation_p.T1460M	p.T1460M	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	4577	-			1460					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4379C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920064	0.73098	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.98512	-4.97;-4.97;-4.97	5.83	3.72	0.42706	Ion transport (1);	0.102782	0.64402	D	0.000003	D	0.98735	0.9575	H	0.94734	3.575	0.38360	D	0.944577	D	0.67145	0.996	P	0.52343	0.696	D	0.99927	1.1294	10	0.87932	D	0	.	13.4439	0.61129	0.1476:0.0:0.8524:0.0	.	1460	Q9UI33	SCNBA_HUMAN	M	1460;1460;1422	ENSP00000307599:T1460M;ENSP00000400945:T1460M;ENSP00000416757:T1422M	ENSP00000307599:T1460M	T	-	2	0	SCN11A	38864186	1.000000	0.71417	0.669000	0.29828	0.966000	0.64601	5.743000	0.68655	1.471000	0.48121	0.650000	0.86243	ACG		0.493	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		17	22	0	0	0	1	0	17	22				
CTNND2	1501	broad.mit.edu	37	5	11159811	11159811	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr5:11159811A>G	ENST00000304623.8	-	12	2225	c.2036T>C	c.(2035-2037)cTa>cCa	p.L679P	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.L246P|CTNND2_ENST00000359640.2_Missense_Mutation_p.L679P|CTNND2_ENST00000511377.1_Missense_Mutation_p.L588P|CTNND2_ENST00000503622.1_Missense_Mutation_p.L342P	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	679					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CAGTACTGCTAGGGCATCCTG	0.502																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(2035-2037)cTa>cCa		catenin (cadherin-associated protein), delta 2							185.0	168.0	174.0					5																	11159811		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11159811A>G	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2036T>C	5.37:g.11159811A>G	ENSP00000307134:p.Leu679Pro					CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.L588P|CTNND2_ENST00000458100.2_Missense_Mutation_p.L246P|CTNND2_ENST00000359640.2_Missense_Mutation_p.L679P|CTNND2_ENST00000503622.1_Missense_Mutation_p.L342P	p.L679P	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			12	2225	-			679					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2036T>C	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550703	0.86127	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	6.16	6.16	0.99307	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74816	0.3766	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.78314	0.96;0.96;0.991	T	0.78122	-0.2327	10	0.87932	D	0	-14.9743	16.8061	0.85666	1.0:0.0:0.0:0.0	.	342;246;679	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	P	679;679;588;246;342	ENSP00000307134:L679P;ENSP00000352661:L679P;ENSP00000426510:L588P;ENSP00000391155:L246P;ENSP00000426887:L342P	ENSP00000307134:L679P	L	-	2	0	CTNND2	11212811	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.874000	0.92363	2.367000	0.80283	0.528000	0.53228	CTA		0.502	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		12	121	0	0	0	1	0	12	121				
SH3PXD2A	9644	broad.mit.edu	37	10	105420865	105420865	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr10:105420865G>T	ENST00000369774.4	-	8	756	c.480C>A	c.(478-480)gaC>gaA	p.D160E	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.D22E|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.D27E|SH3PXD2A_ENST00000538130.1_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.D160E			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	160					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGGCGGTGGCGTCGGCACCTG	0.692																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(478-480)gaC>gaA		SH3 and PX domains 2A							100.0	104.0	102.0					10																	105420865		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105420865G>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.480C>A	10.37:g.105420865G>T	ENSP00000358789:p.Asp160Glu					SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.D22E|SH3PXD2A_ENST00000538130.1_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.D160E|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.D27E	p.D160E			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	8	756	-		Colorectal(252;0.0815)|Breast(234;0.131)	160					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.480C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.77|17.77	3.472140|3.472140	0.63737|0.63737	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000427662;ENST00000369774;ENST00000355946;ENST00000536035;ENST00000540321|ENST00000420222	T;T;T;T|.	0.67171|.	-0.25;0.51;0.56;0.45|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Src homology-3 domain (1);|.	0.060239|.	0.64402|.	D|.	0.000008|.	T|T	0.49012|0.49012	0.1532|0.1532	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	P;D;P;P|.	0.63046|.	0.905;0.992;0.562;0.943|.	P;P;B;P|.	0.57502|.	0.451;0.822;0.096;0.653|.	T|T	0.42882|0.42882	-0.9425|-0.9425	10|5	0.02654|.	T|.	1|.	-45.4549|-45.4549	12.8823|12.8823	0.58024|0.58024	0.0846:0.0:0.9154:0.0|0.0846:0.0:0.9154:0.0	.|.	160;37;22;160|.	Q5TCZ1;B7Z9L8;F8WCK5;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	E|S	22;160;160;75;27|115	ENSP00000392664:D22E;ENSP00000358789:D160E;ENSP00000348215:D160E;ENSP00000443663:D27E|.	ENSP00000348215:D160E|.	D|R	-|-	3|1	2|0	SH3PXD2A|SH3PXD2A	105410855|105410855	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.772000|2.772000	0.47678|0.47678	2.504000|2.504000	0.84457|0.84457	0.561000|0.561000	0.74099|0.74099	GAC|CGC		0.692	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		83	90	1	0	1.42954e-44	1	1.78693e-44	83	90				
KIAA0754	643314	broad.mit.edu	37	1	39878974	39878974	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:39878974C>G	ENST00000530275.1	+	1	2824	c.2629C>G	c.(2629-2631)Ccc>Gcc	p.P877A	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	877	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCAGAGGAGCCCACCTCCCC	0.687																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(2629-2631)Ccc>Gcc		KIAA0754							8.0	10.0	9.0					1																	39878974		1843	4036	5879	SO:0001583	missense	643314							g.chr1:39878974C>G			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2629C>G	1.37:g.39878974C>G	ENSP00000431179:p.Pro877Ala					MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron	p.P877A	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	2824	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	877			Ala-rich.		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.2629C>G		.	.	.	.	.	.	.	.	.	.	C	9.146	1.015170	0.19355	.	.	ENSG00000255103	ENST00000530275	T	0.24723	1.84	4.2	-1.59	0.08453	.	.	.	.	.	T	0.15003	0.0362	L	0.29908	0.895	0.09310	N	1	B	0.28291	0.206	B	0.31101	0.124	T	0.31052	-0.9957	9	0.51188	T	0.08	.	1.7766	0.03023	0.1403:0.4618:0.1371:0.2608	.	877	O94854	K0754_HUMAN	A	877	ENSP00000431179:P877A	ENSP00000431179:P877A	P	+	1	0	RP4-562N20.1	39651561	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.318000	0.08050	-0.132000	0.11557	0.462000	0.41574	CCC		0.687	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		6	15	0	0	0	1	0	6	15				
USH2A	7399	broad.mit.edu	37	1	215914751	215914751	+	Missense_Mutation	SNP	G	G	T	rs41303285	byFrequency	TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:215914751G>T	ENST00000307340.3	-	60	12063	c.11677C>A	c.(11677-11679)Cca>Aca	p.P3893T	USH2A_ENST00000366943.2_Missense_Mutation_p.P3893T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3893	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.		P -> T (in dbSNP:rs41303285). {ECO:0000269|PubMed:18273898}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTCCATTTGGTTTTTCAGGT	0.388										HNSCC(13;0.011)			G|||	31	0.0061901	0.0	0.0058	5008	,	,		15254	0.0		0.0189	False		,,,				2504	0.0082					ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(11677-11679)Cca>Aca		Usher syndrome 2A (autosomal recessive, mild)		G	THR/PRO	22,4384	29.0+/-57.7	0,22,2181	156.0	160.0	159.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	11677	4.4	0.9	1	dbSNP_127	159	193,8407	85.6+/-148.0	2,189,4109	yes	missense	USH2A	NM_206933.2	38	2,211,6290	TT,TG,GG		2.2442,0.4993,1.6531	probably-damaging	3893/5203	215914751	215,12791	2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215914751G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11677C>A	1.37:g.215914751G>T	ENSP00000305941:p.Pro3893Thr	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.P3893T	p.P3893T			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	60	12063	-			3893		P -> T (in dbSNP:rs41303285).	Fibronectin type-III 24.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.11677C>A	CCDS31025.1	17	0.007783882783882784	0	0.0	4	0.011049723756906077	0	0.0	13	0.017150395778364115	G	18.62	3.662850	0.67700	0.004993	0.022442	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55588	0.51;0.51	5.38	4.44	0.53790	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44688	D	0.000425	T	0.54663	0.1872	M	0.66560	2.04	0.53005	D	0.999964	D	0.89917	1.0	D	0.72075	0.976	T	0.66268	-0.5966	10	0.44086	T	0.13	.	15.9672	0.79984	0.0:0.135:0.865:0.0	rs41303285	3893	O75445	USH2A_HUMAN	T	3893	ENSP00000305941:P3893T;ENSP00000355910:P3893T	ENSP00000305941:P3893T	P	-	1	0	USH2A	213981374	1.000000	0.71417	0.878000	0.34440	0.972000	0.66771	5.655000	0.67981	1.447000	0.47661	0.655000	0.94253	CCA		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	86	1	0	1	1	1	5	86				
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	G	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr4:4228226G>A	ENST00000296358.4	-	1	390	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	122					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R122R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716																																						ENST00000296358.4																			2	Substitution - coding silent(2)	p.R122R(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(364-366)cgC>cgT		otopetrin 1							5.0	6.0	6.0					4																	4228226		1619	3562	5181	SO:0001819	synonymous_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228226G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.366C>T	4.37:g.4228226G>A							p.R122R	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	390	-			122					A1L476	Silent	SNP	ENST00000296358.4	37	c.366C>T	CCDS3372.1																																																																																				0.716	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		4	8	0	0	0	1	0	4	8				
OR52A1	23538	broad.mit.edu	37	11	5172912	5172912	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr11:5172912G>A	ENST00000380367.1	-	2	1105	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	OR52A1_ENST00000328942.1_Missense_Mutation_p.R230C			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	230					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGCAAACGAAAAACTGTG	0.423																																						ENST00000380367.1																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(688-690)Cgt>Tgt		olfactory receptor, family 52, subfamily A, member 1							165.0	152.0	157.0					11																	5172912		2201	4298	6499	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5172912G>A	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.688C>T	11.37:g.5172912G>A	ENSP00000369725:p.Arg230Cys					OR52A1_ENST00000328942.1_Missense_Mutation_p.R230C	p.R230C			Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1105	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	230					Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.688C>T	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	G	4.139	0.024086	0.08006	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.00267	8.38;8.38	5.33	-1.38	0.09027	GPCR, rhodopsin-like superfamily (1);	1.100120	0.06929	N	0.810707	T	0.00210	0.0006	M	0.67625	2.065	0.09310	N	1	B	0.19200	0.034	B	0.15484	0.013	T	0.20907	-1.0261	10	0.45353	T	0.12	.	5.6185	0.17444	0.0716:0.093:0.3925:0.443	.	230	Q9UKL2	O52A1_HUMAN	C	230	ENSP00000369725:R230C;ENSP00000333684:R230C	ENSP00000333684:R230C	R	-	1	0	OR52A1	5129488	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.532000	0.02217	-0.101000	0.12219	-0.850000	0.03035	CGT		0.423	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		5	84	0	0	0	1	0	5	84				
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCTGCT	rs56352724|rs3831942|rs367921715|rs58327065		TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:154842199_154842200insGCTGCT	ENST00000271915.4	-	1	556_557	c.241_242insAGCAGC	c.(241-243)cca>cAGCAGCca	p.80_81insQQ	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Gln-rich.		Missing.		potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGGATGCGGTGgctgctgctgc	0.698																																						ENST00000271915.3																			2	Insertion - In frame(2)	p.Q80_P81insQQ(2)	prostate(2)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(241-243)acc>AGCAGCacc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001652	inframe_insertion	3782					integral to membrane	calmodulin binding	g.chr1:154842199_154842200insGCTGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.236_241dupAGCAGC	1.37:g.154842200_154842205dupGCTGCT	ENSP00000271915:p.Gln79_Gln80dup						p.80_81insSS	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	556_557	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		80			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Ins	INS	ENST00000271915.4	37	c.241_242insAGCAGC	CCDS30880.1																																																																																				0.698	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		5	10						5	10	---	---	---	---
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937|rs74800608|rs375843790|rs74185804|rs202010288	byFrequency	TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764														5004	0.999201	0.9992	1.0	5008	,	,		2724	1.0		0.999	False		,,,				2504	0.998					ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II																																						6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12046124_12046126delAGC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12046124_12046126delAGC										Q86VA8	Q86VA8_HUMAN			0	245_247	+								A8MY98	RNA	DEL	ENST00000432424.2	37																																																																																						0.764	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		2	4						2	4	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32522327	32522328	+	RNA	INS	-	-	CCCAGTAG	rs144707340		TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr6:32522327_32522328insCCCAGTAG	ENST00000411500.1	-	0	740					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		ACAGGGCTACCCCCAGTGACCT	0.51																																						ENST00000411500.1																			0																																																			0							g.chr6:32522327_32522328insCCCAGTAG	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522327_32522328insCCCAGTAG								NR_001298.1						0	740	-									RNA	INS	ENST00000411500.1	37																																																																																						0.510	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		5	9						5	9	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7191540	7191541	+	lincRNA	DEL	CA	CA	-	rs376658666		TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr8:7191540_7191541delCA	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		GGGGTGcacgcacacacacaca	0.53																																						ENST00000606573.1																			0																																																			0							g.chr8:7191540_7191541delCA			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7191550_7191551delCA														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.530	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		7	41						7	41	---	---	---	---
SLA	6503	broad.mit.edu	37	8	134050954	134050955	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr8:134050954_134050955delTC	ENST00000338087.5	-	9	1464_1465	c.645_646delGA	c.(643-648)gagaacfs	p.N216fs	SLA_ENST00000427060.2_Frame_Shift_Del_p.N256fs|TG_ENST00000519543.1_Intron|SLA_ENST00000524345.1_Frame_Shift_Del_p.N108fs|TG_ENST00000220616.4_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000395352.3_Frame_Shift_Del_p.N233fs|TG_ENST00000542445.1_Intron|SLA_ENST00000517648.1_Frame_Shift_Del_p.N189fs	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	216	SLA C-terminal.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			CCAAGCGGGTTCTCTGTTCCCT	0.53																																						ENST00000338087.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17						c.(643-648)gaacfs		Src-like-adaptor																																				SO:0001589	frameshift_variant	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134050954_134050955delTC		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.645_646delGA	8.37:g.134050956_134050957delTC	ENSP00000337548:p.Asn216fs					TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Frame_Shift_Del_p.EN188fs|SLA_ENST00000524345.1_Frame_Shift_Del_p.EN107fs|SLA_ENST00000395352.3_Frame_Shift_Del_p.EN232fs|TG_ENST00000519543.1_Intron|SLA_ENST00000427060.2_Frame_Shift_Del_p.EN255fs|TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron	p.EN215fs	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		9	1464_1465	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	215			SLA C-terminal.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Frame_Shift_Del	DEL	ENST00000338087.5	37	c.645_646delGA	CCDS6370.1																																																																																				0.530	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			29	34						29	34	---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	129034263	129034263	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr11:129034263delT	ENST00000310343.9	-	2	175	c.176delA	c.(175-177)aatfs	p.N59fs	ARHGAP32_ENST00000524655.1_5'Flank	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	59					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGGGTGTACATTTCTATGTAG	0.348																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(175-177)atfs		Rho GTPase activating protein 32							74.0	65.0	68.0					11																	129034263		1566	3578	5144	SO:0001589	frameshift_variant	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:129034263delT	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.176delA	11.37:g.129034263delT	ENSP00000310561:p.Asn59fs						p.N59fs	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			2	175	-			59					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Frame_Shift_Del	DEL	ENST00000310343.9	37	c.176delA	CCDS44769.1																																																																																				0.348	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		2	4						2	4	---	---	---	---
ZIC2	7546	broad.mit.edu	37	13	100635008	100635010	+	In_Frame_Del	DEL	CCA	CCA	-	rs375069774		TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr13:100635008_100635010delCCA	ENST00000376335.3	+	1	983_985	c.690_692delCCA	c.(688-693)gcccac>gcc	p.H239del		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	239	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.|Poly-His.		H -> HH. {ECO:0000269|PubMed:15221788}.|Missing. {ECO:0000269|PubMed:15221788}.		brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCCGCGGCccaccaccaccac	0.621																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(688-693)gcc>gc		Zic family member 2																																				SO:0001651	inframe_deletion	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635008_100635010delCCA	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.690_692delCCA	13.37:g.100635017_100635019delCCA	ENSP00000365514:p.His239del						p.AH230del	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	983_985	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		230			Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala.		Q5VYA9|Q9H309	In_Frame_Del	DEL	ENST00000376335.3	37	c.690_692delCCA	CCDS9495.1																																																																																				0.621	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		13	88						13	88	---	---	---	---
