#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
FRMPD2	143162	broad.mit.edu	37	10	49430493	49430493	+	Splice_Site	SNP	G	G	T	rs144515014		TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr10:49430493G>T	ENST00000374201.3	-	12	1620	c.1318C>A	c.(1318-1320)Cac>Aac	p.H440N	FRMPD2_ENST00000305531.3_Splice_Site_p.H416N|FRMPD2_ENST00000407470.4_Splice_Site_p.H409N	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	440	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GTCAGGCTGTGCCTGGAAAAG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		20279	0.0		0.001	False		,,,				2504	0.0					ENST00000374201.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.e12-1		FERM and PDZ domain containing 2		G	ASN/HIS	0,4406		0,0,2203	75.0	65.0	69.0		1318	3.4	1.0	10	dbSNP_134	69	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice	FRMPD2	NM_001018071.3	68	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	benign	440/1310	49430493	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49430493G>T	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1317-1C>A	10.37:g.49430493G>T						FRMPD2_ENST00000305531.3_Splice_Site_p.H416_splice|FRMPD2_ENST00000407470.4_Splice_Site_p.H409_splice	p.H440_splice	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	12	1620	-			440			FERM.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Splice_Site	SNP	ENST00000374201.3	37	c.1316_splice	CCDS31195.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.86	2.660246	0.47572	0.0	2.33E-4	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.29142	1.58;1.58;1.58	5.29	3.4	0.38934	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	T	0.27866	0.0686	L	0.48877	1.53	0.27883	N	0.939625	P;B;P	0.41848	0.763;0.368;0.763	B;B;B	0.39840	0.311;0.297;0.311	T	0.05971	-1.0853	9	0.41790	T	0.15	.	10.2564	0.43399	0.0:0.1478:0.6987:0.1535	.	416;440;409	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	N	440;416;409	ENSP00000363317:H440N;ENSP00000307079:H416N;ENSP00000384339:H409N	ENSP00000307079:H416N	H	-	1	0	FRMPD2	49100499	1.000000	0.71417	0.978000	0.43139	0.802000	0.45316	5.725000	0.68507	0.592000	0.29728	0.555000	0.69702	CAC		0.498	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428	Missense_Mutation	3	52	1	0	0.115264	1	0.115264	3	52				
TTN	7273	broad.mit.edu	37	2	179432010	179432010	+	Silent	SNP	T	T	G			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr2:179432010T>G	ENST00000591111.1	-	276	74150	c.73926A>C	c.(73924-73926)gtA>gtC	p.V24642V	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.V26283V|TTN_ENST00000342992.6_Silent_p.V23715V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.V17410V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.V17343V|TTN_ENST00000460472.2_Silent_p.V17218V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24642					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)			GTCTATCTAATACTTTTACAT	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.(78847-78849)gtA>gtC		titin							158.0	163.0	161.0					2																	179432010		1839	4079	5918	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179432010T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.73926A>C	2.37:g.179432010T>G						TTN_ENST00000342175.6_Silent_p.V17410V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.V17343V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Silent_p.V17218V|TTN_ENST00000591111.1_Silent_p.V24642V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.V23715V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.V26283V	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)		326	79073	-			24642			Fibronectin type-III 91.		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	Silent	SNP	ENST00000591111.1	37	c.78849A>C																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	102	0	0	0	1	0	4	102				
SRRM4	84530	broad.mit.edu	37	12	119583287	119583287	+	Silent	SNP	G	G	A	rs367777055		TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr12:119583287G>A	ENST00000267260.4	+	9	1261	c.873G>A	c.(871-873)acG>acA	p.T291T		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	291	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.T291T(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GAAATGACACGTCCTCGCCAC	0.632																																						ENST00000267260.4																			2	Substitution - coding silent(2)	p.T291T(2)	large_intestine(2)	breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(871-873)acG>acA		serine/arginine repetitive matrix 4		G		3,4003		0,3,2000	32.0	37.0	35.0		873	-6.8	0.9	12		35	0,8318		0,0,4159	no	coding-synonymous	SRRM4	NM_194286.3		0,3,6159	AA,AG,GG		0.0,0.0749,0.0243		291/612	119583287	3,12321	2003	4159	6162	SO:0001819	synonymous_variant	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119583287G>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.873G>A	12.37:g.119583287G>A							p.T291T	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			9	1261	+			291			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	c.873G>A	CCDS44994.1																																																																																				0.632	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		4	7	0	0	0	1	0	4	7				
FOXD4L1	200350	broad.mit.edu	37	2	114256921	114256921	+	Silent	SNP	C	C	T			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr2:114256921C>T	ENST00000306507.5	+	1	261	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	30					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						AATCGATGTCCTGGGAgagga	0.642																																						ENST00000306507.5																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						c.(88-90)Ctg>Ttg		forkhead box D4-like 1							20.0	33.0	28.0					2																	114256921		2161	4242	6403	SO:0001819	synonymous_variant	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114256921C>T	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.88C>T	2.37:g.114256921C>T							p.L30L	NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN			1	261	+			30					B3KWN1|B9EGF3	Silent	SNP	ENST00000306507.5	37	c.88C>T	CCDS2117.1																																																																																				0.642	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		4	90	0	0	0	1	0	4	90				
ATMIN	23300	broad.mit.edu	37	16	81078137	81078137	+	Silent	SNP	C	C	T			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr16:81078137C>T	ENST00000299575.4	+	4	2058	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L	ATMIN_ENST00000566488.1_Silent_p.L522L|ATMIN_ENST00000564241.1_Silent_p.L522L|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	678					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						ACTTCTTACTCGCAGATACCT	0.448																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1564-1566)ctC>ctT		ATM interactor							94.0	102.0	99.0					16																	81078137		2202	4300	6502	SO:0001819	synonymous_variant	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078137C>T	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.2034C>T	16.37:g.81078137C>T						ATMIN_ENST00000564241.1_Silent_p.L522L|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000299575.4_Silent_p.L678L	p.L522L			O43313	ATMIN_HUMAN			3	2529	+			678					A8K4H8|Q68DC9	Silent	SNP	ENST00000299575.4	37	c.1566C>T	CCDS32494.1																																																																																				0.448	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		44	22	0	0	0	1	0	44	22				
MUC16	94025	broad.mit.edu	37	19	9083587	9083587	+	Missense_Mutation	SNP	G	G	A	rs371402846		TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr19:9083587G>A	ENST00000397910.4	-	1	8431	c.8228C>T	c.(8227-8229)tCg>tTg	p.S2743L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2743	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S2743L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACTGTGATCGAACCTTCATA	0.468																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.S2743L(2)	large_intestine(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(8227-8229)tCg>tTg		mucin 16, cell surface associated							125.0	118.0	120.0					19																	9083587		1919	4115	6034	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9083587G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8228C>T	19.37:g.9083587G>A	ENSP00000381008:p.Ser2743Leu						p.S2743L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	8431	-			2743			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.8228C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.595	-0.831363	0.02713	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.44081	-0.9351	7	0.87932	D	0	.	.	.	.	.	2743	B5ME49	.	L	2743	ENSP00000381008:S2743L	ENSP00000381008:S2743L	S	-	2	0	MUC16	8944587	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	-1.465000	0.02357	-0.677000	0.05231	-0.671000	0.03813	TCG		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	73	0	0	0	1	0	6	73				
OR5P3	120066	broad.mit.edu	37	11	7846597	7846597	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr11:7846597T>C	ENST00000328375.1	-	1	922	c.923A>G	c.(922-924)aAa>aGa	p.K308R	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAAAATATTTTTATTCTAAG	0.348																																						ENST00000328375.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15						c.(922-924)aAa>aGa		olfactory receptor, family 5, subfamily P, member 3							24.0	26.0	25.0					11																	7846597		2200	4296	6496	SO:0001583	missense	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7846597T>C	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"""GPCR / Class A : Olfactory receptors"""	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.923A>G	11.37:g.7846597T>C	ENSP00000332068:p.Lys308Arg					RP11-35J10.5_ENST00000527565.1_lincRNA	p.K308R	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	922	-			308					Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	37	c.923A>G	CCDS7783.1	.	.	.	.	.	.	.	.	.	.	T	6.281	0.419929	0.11928	.	.	ENSG00000182334	ENST00000328375	T	0.37411	1.2	4.53	0.923	0.19413	.	0.619681	0.12957	U	0.425295	T	0.19046	0.0457	N	0.16708	0.43	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.18713	-1.0328	10	0.36615	T	0.2	0.6757	4.3977	0.11370	0.0:0.1953:0.3727:0.432	.	308	Q8WZ94	OR5P3_HUMAN	R	308	ENSP00000332068:K308R	ENSP00000332068:K308R	K	-	2	0	OR5P3	7803173	0.000000	0.05858	0.001000	0.08648	0.095000	0.18619	0.073000	0.14640	-0.004000	0.14419	0.528000	0.53228	AAA		0.348	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		3	50	0	0	0	1	0	3	50				
RAC3	5881	broad.mit.edu	37	17	79990859	79990859	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr17:79990859G>A	ENST00000306897.4	+	4	400	c.262G>A	c.(262-264)Gcc>Acc	p.A88T		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	88					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGTGAGCCCGGCCTCCTTCGA	0.622																																						ENST00000306897.4																			0				NS(1)|kidney(1)|skin(1)	3						c.(262-264)Gcc>Acc		ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)							81.0	89.0	86.0					17																	79990859		2203	4300	6503	SO:0001583	missense	5881				actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:79990859G>A	AF008591	CCDS11798.1	17q25.3	2014-01-30				ENSG00000169750		"""Endogenous ligands"""	9803	protein-coding gene	gene with protein product		602050					Standard	NM_005052		Approved		uc002kdf.3	P60763		ENST00000306897.4:c.262G>A	17.37:g.79990859G>A	ENSP00000304283:p.Ala88Thr						p.A88T	NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		4	400	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		88					O14658|Q5U0M8	Missense_Mutation	SNP	ENST00000306897.4	37	c.262G>A	CCDS11798.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592363	0.66219	.	.	ENSG00000169750	ENST00000306897	T	0.76968	-1.06	3.72	3.72	0.42706	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.58652	0.2137	N	0.05619	-0.005	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.54193	-0.8330	9	.	.	.	.	15.6871	0.77421	0.0:0.0:1.0:0.0	.	88	P60763	RAC3_HUMAN	T	88	ENSP00000304283:A88T	.	A	+	1	0	RAC3	77584148	1.000000	0.71417	0.988000	0.46212	0.836000	0.47400	9.381000	0.97205	1.909000	0.55274	0.561000	0.74099	GCC		0.622	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442064.1			20	32	0	0	0	1	0	20	32				
HMCN1	83872	broad.mit.edu	37	1	186088390	186088390	+	Silent	SNP	G	G	A	rs374616091		TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr1:186088390G>A	ENST00000271588.4	+	78	12145	c.11916G>A	c.(11914-11916)gcG>gcA	p.A3972A	HMCN1_ENST00000367492.2_Silent_p.A3972A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3972	Ig-like C2-type 38.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTAGGAATGCGGCTGGCTCTG	0.398													g|||	1	0.000199681	0.0	0.0	5008	,	,		17805	0.0		0.0	False		,,,				2504	0.001					ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(11914-11916)gcG>gcA		hemicentin 1		A		3,4403	6.2+/-15.9	0,3,2200	121.0	114.0	117.0		11916	-3.0	0.9	1		117	0,8600		0,0,4300	no	coding-synonymous	HMCN1	NM_031935.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		3972/5636	186088390	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186088390G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11916G>A	1.37:g.186088390G>A						HMCN1_ENST00000367492.2_Silent_p.A3972A	p.A3972A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			78	12145	+			3972			Ig-like C2-type 38.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.11916G>A	CCDS30956.1																																																																																				0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		46	64	0	0	0	1	0	46	64				
VPS16	64601	broad.mit.edu	37	20	2843245	2843245	+	Silent	SNP	C	C	T			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr20:2843245C>T	ENST00000380445.3	+	12	1164	c.1092C>T	c.(1090-1092)gaC>gaT	p.D364D	PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000380443.3_Silent_p.D18D|VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_Intron	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	364					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGAAGGCGGACGAGTACCTGC	0.602																																						ENST00000380445.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(1090-1092)gaC>gaT		vacuolar protein sorting 16 homolog (S. cerevisiae)							44.0	48.0	47.0					20																	2843245		2203	4298	6501	SO:0001819	synonymous_variant	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2843245C>T	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1092C>T	20.37:g.2843245C>T						VPS16_ENST00000380443.3_Silent_p.D18D|VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_Intron	p.D364D	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN			12	1164	+			364					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	ENST00000380445.3	37	c.1092C>T	CCDS13036.1																																																																																				0.602	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		16	14	0	0	0	1	0	16	14				
MC3R	4159	broad.mit.edu	37	20	54824819	54824819	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr20:54824819G>A	ENST00000243911.2	+	1	1032	c.920G>A	c.(919-921)cGc>cAc	p.R307H		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	307					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CTGGAATTGCGCAACACCTTT	0.517																																						ENST00000243911.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(919-921)cGc>cAc		melanocortin 3 receptor							168.0	160.0	163.0					20																	54824819		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824819G>A		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.920G>A	20.37:g.54824819G>A	ENSP00000243911:p.Arg307His						p.R307H	NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	1032	+			344					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.920G>A	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520625	0.64747	.	.	ENSG00000124089	ENST00000243911	T	0.58358	0.34	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000014	D	0.82917	0.5141	H	0.97440	4.005	0.51767	D	0.99993	D	0.89917	1.0	D	0.83275	0.996	D	0.89536	0.3789	10	0.87932	D	0	.	18.1096	0.89530	0.0:0.0:1.0:0.0	.	344	P41968	MC3R_HUMAN	H	307	ENSP00000243911:R307H	ENSP00000243911:R307H	R	+	2	0	MC3R	54258226	1.000000	0.71417	0.990000	0.47175	0.182000	0.23217	9.731000	0.98807	2.362000	0.80069	0.555000	0.69702	CGC		0.517	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			4	139	0	0	0	1	0	4	139				
NAA15	80155	broad.mit.edu	37	4	140265373	140265373	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr4:140265373G>A	ENST00000296543.5	+	6	894	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	NAA15_ENST00000398947.1_Missense_Mutation_p.E191K|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	191					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TGAATATAGTGAACTACTCTT	0.333																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(571-573)Gaa>Aaa		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							86.0	78.0	81.0					4																	140265373		1810	4077	5887	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140265373G>A	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.571G>A	4.37:g.140265373G>A	ENSP00000296543:p.Glu191Lys					NAA15_ENST00000398947.1_Missense_Mutation_p.E191K|NAA15_ENST00000480277.2_3'UTR	p.E191K	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			6	894	+			191					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.571G>A	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098606	0.94197	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.60040	0.22;0.22	4.8	4.8	0.61643	Tetratricopeptide-like helical (1);	0.126383	0.50627	D	0.000109	T	0.81936	0.4928	M	0.93638	3.44	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	D	0.86649	0.1897	10	0.66056	D	0.02	-15.1829	18.4096	0.90546	0.0:0.0:1.0:0.0	.	191	Q9BXJ9	NAA15_HUMAN	K	191;65;191	ENSP00000296543:E191K;ENSP00000381920:E191K	ENSP00000296543:E191K	E	+	1	0	NAA15	140484823	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.174000	0.94824	2.655000	0.90218	0.484000	0.47621	GAA		0.333	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		19	82	0	0	0	1	0	19	82				
SHANK1	50944	broad.mit.edu	37	19	51165266	51165266	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr19:51165266G>A	ENST00000293441.1	-	23	6460	c.6442C>T	c.(6442-6444)Cgc>Tgc	p.R2148C	SHANK1_ENST00000391814.1_Missense_Mutation_p.R2156C|SHANK1_ENST00000391813.1_Missense_Mutation_p.R1535C|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000483981.2_5'Flank|SHANK1_ENST00000359082.3_Missense_Mutation_p.R2139C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2148	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ATGTTCATGCGGTGGCCCACC	0.622																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(6442-6444)Cgc>Tgc		SH3 and multiple ankyrin repeat domains 1							71.0	64.0	67.0					19																	51165266		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51165266G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6442C>T	19.37:g.51165266G>A	ENSP00000293441:p.Arg2148Cys					SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.R2139C|SHANK1_ENST00000391813.1_Missense_Mutation_p.R1535C|SHANK1_ENST00000391814.1_Missense_Mutation_p.R2156C	p.R2148C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	23	6460	-		all_neural(266;0.057)	2148			SAM.		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.6442C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	9.043	0.990142	0.18966	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	3.51	1.24	0.21308	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.64402	U	0.000005	T	0.75317	0.3833	M	0.93898	3.47	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.973	T	0.78079	-0.2344	10	0.87932	D	0	.	10.3463	0.43907	0.0:0.0:0.4879:0.5121	.	2148;1535	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	C	2148;1535;2139;2156	ENSP00000293441:R2148C;ENSP00000375689:R1535C;ENSP00000351984:R2139C;ENSP00000375690:R2156C	ENSP00000293441:R2148C	R	-	1	0	SHANK1	55857078	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.634000	0.54302	0.280000	0.22209	0.443000	0.29094	CGC		0.622	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		18	41	0	0	0	1	0	18	41				
NSMAF	8439	broad.mit.edu	37	8	59511849	59511849	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr8:59511849C>G	ENST00000038176.3	-	19	1739	c.1527G>C	c.(1525-1527)tgG>tgC	p.W509C	NSMAF_ENST00000519858.1_5'Flank|NSMAF_ENST00000427130.2_Missense_Mutation_p.W540C	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	509	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.W509C(1)|p.W540C(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTAGATCAATCCACTCGTGAA	0.373																																						ENST00000038176.3																			2	Substitution - Missense(2)	p.W509C(1)|p.W540C(1)	lung(2)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(1525-1527)tgG>tgC		neutral sphingomyelinase (N-SMase) activation associated factor							168.0	162.0	164.0					8																	59511849		2203	4300	6503	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59511849C>G	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1527G>C	8.37:g.59511849C>G	ENSP00000038176:p.Trp509Cys					NSMAF_ENST00000427130.2_Missense_Mutation_p.W540C	p.W509C	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN			19	1739	-		all_lung(136;0.174)|Lung NSC(129;0.2)	509			BEACH.		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.1527G>C	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589457	0.86851	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	D;D	0.92249	-3.0;-3.0	6.17	6.17	0.99709	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.98216	0.9410	H	0.99238	4.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98623	1.0668	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	540;509	Q92636-2;Q92636	.;FAN_HUMAN	C	509;540	ENSP00000038176:W509C;ENSP00000411012:W540C	.	W	-	3	0	NSMAF	59674403	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TGG		0.373	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		4	204	0	0	0	1	0	4	204				
CACNA1D	776	broad.mit.edu	37	3	53809970	53809970	+	Silent	SNP	C	C	T			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr3:53809970C>T	ENST00000350061.5	+	35	4771	c.4260C>T	c.(4258-4260)ctC>ctT	p.L1420L	CACNA1D_ENST00000422281.2_Silent_p.L1405L|CACNA1D_ENST00000540742.1_Silent_p.L312L|CACNA1D_ENST00000288139.4_Silent_p.L1440L	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1420	Dihydropyridine binding. {ECO:0000250}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGGGAAGCTCTGTGACCCTG	0.493																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(4318-4320)ctC>ctT		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						163.0	174.0	170.0					3																	53809970		2203	4300	6503	SO:0001819	synonymous_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53809970C>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.4260C>T	3.37:g.53809970C>T						CACNA1D_ENST00000350061.5_Silent_p.L1420L|CACNA1D_ENST00000422281.2_Silent_p.L1405L|CACNA1D_ENST00000540742.1_Silent_p.L312L	p.L1440L	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	36	4438	+			1420			Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	c.4320C>T	CCDS46848.1																																																																																				0.493	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		50	76	0	0	0	1	0	50	76				
FILIP1	27145	broad.mit.edu	37	6	76023240	76023240	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr6:76023240G>A	ENST00000237172.7	-	5	2638	c.2308C>T	c.(2308-2310)Ctc>Ttc	p.L770F	FILIP1_ENST00000393004.2_Missense_Mutation_p.L770F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.L671F	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	770										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTCAGATTGAGAACCTCCTGC	0.433																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2308-2310)Ctc>Ttc		filamin A interacting protein 1							131.0	135.0	133.0					6																	76023240		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023240G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2308C>T	6.37:g.76023240G>A	ENSP00000237172:p.Leu770Phe					FILIP1_ENST00000237172.7_Missense_Mutation_p.L770F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.L671F	p.L770F			Q7Z7B0	FLIP1_HUMAN			5	2529	-			770					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2308C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	0.269	-0.994185	0.02145	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.19669	2.14;2.13;2.14	5.66	3.74	0.42951	.	0.382752	0.26836	N	0.022244	T	0.06096	0.0158	L	0.40543	1.245	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.12837	0.002;0.003;0.008	T	0.18272	-1.0342	10	0.24483	T	0.36	-12.3923	7.1003	0.25333	0.1959:0.131:0.673:0.0	.	770;770;770	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	F	770;770;671	ENSP00000376728:L770F;ENSP00000237172:L770F;ENSP00000359037:L671F	ENSP00000237172:L770F	L	-	1	0	FILIP1	76079960	0.000000	0.05858	0.999000	0.59377	0.885000	0.51271	-0.014000	0.12656	2.671000	0.90904	0.563000	0.77884	CTC		0.433	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		35	58	0	0	0	1	0	35	58				
SEC1P	653677	broad.mit.edu	37	19	49183691	49183691	+	RNA	SNP	G	G	A			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr19:49183691G>A	ENST00000430145.2	+	0	778					NR_004401.2				secretory blood group 1, pseudogene																		GCCACATCCCGGGGCGCTGTG	0.657																																						ENST00000430145.2																			0																																																			0							g.chr19:49183691G>A			19q13.33	2012-07-04			ENSG00000232871	ENSG00000232871			44149	pseudogene	pseudogene							Standard	NR_004401		Approved		uc010xzv.2		OTTHUMG00000154617		19.37:g.49183691G>A								NR_004401.2						0	778	+									RNA	SNP	ENST00000430145.2	37																																																																																						0.657	SEC1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000336334.1	NR_004401		7	10	0	0	0	1	0	7	10				
ECI2	10455	broad.mit.edu	37	6	4130794	4130794	+	Splice_Site	SNP	C	C	A			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr6:4130794C>A	ENST00000380118.3	-	4	349	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	C6orf201_ENST00000333388.5_3'UTR|ECI2_ENST00000465828.1_Splice_Site_p.E75*|ECI2_ENST00000361538.2_Splice_Site_p.E75*|ECI2_ENST00000380125.2_Splice_Site_p.E75*|ECI2_ENST00000413766.2_5'UTR|C6orf201_ENST00000380175.4_3'UTR			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	105	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						CTGGCAGCTTCCTGAACGGAC	0.438																																						ENST00000465828.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						c.e4-1		enoyl-CoA delta isomerase 2							111.0	109.0	110.0					6																	4130794		2203	4300	6503	SO:0001630	splice_region_variant	10455				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding	g.chr6:4130794C>A	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.313-1G>T	6.37:g.4130794C>A						C6orf201_ENST00000333388.5_3'UTR|ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000361538.2_Splice_Site_p.E75_splice|C6orf201_ENST00000380175.4_3'UTR|ECI2_ENST00000380118.3_Splice_Site_p.E105_splice|ECI2_ENST00000380125.2_Splice_Site_p.E75_splice	p.E75_splice			O75521	ECI2_HUMAN			4	508	-			105			ACB.		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Splice_Site	SNP	ENST00000380118.3	37	c.222_splice	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615240	0.87359	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000361538;ENST00000465828;ENST00000495548	.	.	.	5.69	5.69	0.88448	.	1.620670	0.02815	N	0.124831	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	17.2983	0.87175	0.0:1.0:0.0:0.0	.	.	.	.	X	105;75;75;75;152	.	ENSP00000354737:E75X	E	-	1	0	ECI2	4075793	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	5.977000	0.70492	2.676000	0.91093	0.655000	0.94253	GAA		0.438	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117	Nonsense_Mutation	20	35	1	0	1.9806e-07	1	2.0971e-07	20	35				
PNKP	11284	broad.mit.edu	37	19	50365803	50365803	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr19:50365803C>G	ENST00000322344.3	-	10	1037	c.928G>C	c.(928-930)Gat>Cat	p.D310H	PNKP_ENST00000596014.1_Missense_Mutation_p.D310H|PNKP_ENST00000600910.1_Missense_Mutation_p.D310H|PNKP_ENST00000600573.1_Missense_Mutation_p.D310H|AC018766.4_ENST00000596624.1_RNA	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	310	Phosphatase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		ACCAGGCGATCGGCGCAGGAG	0.687								Other BER factors																														ENST00000322344.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(928-930)Gat>Cat	Other BER factors	polynucleotide kinase 3'-phosphatase							16.0	20.0	18.0					19																	50365803		2192	4284	6476	SO:0001583	missense	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50365803C>G	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.928G>C	19.37:g.50365803C>G	ENSP00000323511:p.Asp310His					PNKP_ENST00000596014.1_Missense_Mutation_p.D310H|PNKP_ENST00000600573.1_Missense_Mutation_p.D310H|PNKP_ENST00000600910.1_Missense_Mutation_p.D310H	p.D310H	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	10	1037	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	310					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Missense_Mutation	SNP	ENST00000322344.3	37	c.928G>C	CCDS12783.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852451	0.91355	.	.	ENSG00000039650	ENST00000322344	D	0.85773	-2.03	5.15	5.15	0.70609	HAD-like domain (2);Polynucleotide kinase 3 phosphatase, central region (1);	0.000000	0.85682	D	0.000000	D	0.95364	0.8495	H	0.98487	4.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96835	0.9614	10	0.87932	D	0	-41.1471	14.1076	0.65101	0.0:1.0:0.0:0.0	.	271;310	Q9BUL2;Q96T60	.;PNKP_HUMAN	H	310	ENSP00000323511:D310H	ENSP00000323511:D310H	D	-	1	0	PNKP	55057615	1.000000	0.71417	0.925000	0.36789	0.855000	0.48748	6.241000	0.72369	2.395000	0.81488	0.561000	0.74099	GAT		0.687	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		4	5	0	0	0	1	0	4	5				
POM121L12	285877	broad.mit.edu	37	7	53103840	53103840	+	Missense_Mutation	SNP	G	G	A	rs565383229	byFrequency	TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr7:53103840G>A	ENST00000408890.4	+	1	492	c.476G>A	c.(475-477)cGc>cAc	p.R159H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	159								p.R159H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CAGAGAgcccgccccgcaggc	0.726													G|||	2	0.000399361	0.0	0.0	5008	,	,		10797	0.0		0.0	False		,,,				2504	0.002					ENST00000408890.4																			1	Substitution - Missense(1)	p.R159H(1)	lung(1)	endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(475-477)cGc>cAc		POM121 transmembrane nucleoporin-like 12							13.0	16.0	15.0					7																	53103840		1848	4065	5913	SO:0001583	missense	285877							g.chr7:53103840G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.476G>A	7.37:g.53103840G>A	ENSP00000386133:p.Arg159His						p.R159H	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	492	+			159					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.476G>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029590	0.35797	.	.	ENSG00000221900	ENST00000408890	T	0.23552	1.9	2.08	-4.17	0.03857	.	.	.	.	.	T	0.12902	0.0313	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	P	0.48304	0.573	T	0.10776	-1.0615	9	0.40728	T	0.16	.	4.4869	0.11794	0.2735:0.3869:0.3396:0.0	.	159	Q8N7R1	P1L12_HUMAN	H	159	ENSP00000386133:R159H	ENSP00000386133:R159H	R	+	2	0	POM121L12	53071334	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.533000	0.02215	-1.234000	0.02548	0.555000	0.69702	CGC		0.726	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		11	7	0	0	0	1	0	11	7				
TTC21A	199223	broad.mit.edu	37	3	39174617	39174617	+	Silent	SNP	A	A	G			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr3:39174617A>G	ENST00000431162.2	+	20	2792	c.2658A>G	c.(2656-2658)caA>caG	p.Q886Q	TTC21A_ENST00000301819.6_Silent_p.Q887Q|TTC21A_ENST00000440121.1_Silent_p.Q838Q|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	886										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCCAGAAGCAACTGGCAGCCT	0.502																																						ENST00000301819.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(2659-2661)caA>caG		tetratricopeptide repeat domain 21A							91.0	91.0	91.0					3																	39174617		1940	4150	6090	SO:0001819	synonymous_variant	199223						binding	g.chr3:39174617A>G	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2658A>G	3.37:g.39174617A>G						TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000431162.2_Silent_p.Q886Q|TTC21A_ENST00000440121.1_Silent_p.Q838Q	p.Q887Q	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	20	2838	+			886					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Silent	SNP	ENST00000431162.2	37	c.2661A>G	CCDS46800.1																																																																																				0.502	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		12	27	0	0	0	1	0	12	27				
SYNE1	23345	broad.mit.edu	37	6	152711423	152711423	+	Silent	SNP	G	G	A	rs371449580		TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr6:152711423G>A	ENST00000367255.5	-	53	8770	c.8169C>T	c.(8167-8169)caC>caT	p.H2723H	SYNE1_ENST00000448038.1_Silent_p.H2730H|SYNE1_ENST00000341594.5_Silent_p.H2762H|SYNE1_ENST00000265368.4_Silent_p.H2723H|SYNE1_ENST00000423061.1_Silent_p.H2730H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2723					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCTTTGAGCGTGGACGGAGG	0.458										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(8167-8169)caC>caT		spectrin repeat containing, nuclear envelope 1		A	,	0,4406		0,0,2203	146.0	123.0	131.0		8190,8169	-7.7	0.0	6		131	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	SYNE1	NM_033071.3,NM_182961.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	2730/8750,2723/8798	152711423	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152711423G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8169C>T	6.37:g.152711423G>A		HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Silent_p.H2723H|SYNE1_ENST00000341594.5_Silent_p.H2762H|SYNE1_ENST00000423061.1_Silent_p.H2730H|SYNE1_ENST00000448038.1_Silent_p.H2730H	p.H2723H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	53	8770	-		Ovarian(120;0.0955)	2723					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.8169C>T	CCDS5236.2																																																																																				0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		21	29	0	0	0	1	0	21	29				
MPHOSPH10	10199	broad.mit.edu	37	2	71361867	71361867	+	Silent	SNP	T	T	C			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr2:71361867T>C	ENST00000244230.2	+	4	1390	c.1038T>C	c.(1036-1038)gtT>gtC	p.V346V	MPHOSPH10_ENST00000498451.2_Silent_p.V346V	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	346					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						ATACAGGTGTTTTAAATGTAA	0.289																																						ENST00000244230.2																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						c.(1036-1038)gtT>gtC		M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)							62.0	72.0	69.0					2																	71361867		2202	4294	6496	SO:0001819	synonymous_variant	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71361867T>C	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1038T>C	2.37:g.71361867T>C						MPHOSPH10_ENST00000498451.2_Silent_p.V346V	p.V346V	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN			4	1390	+			346					A0AVJ8	Silent	SNP	ENST00000244230.2	37	c.1038T>C	CCDS1916.1																																																																																				0.289	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		6	89	0	0	0	1	0	6	89				
MAGEA4	4103	broad.mit.edu	37	X	151093031	151093031	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chrX:151093031C>T	ENST00000360243.2	+	3	1162	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	MAGEA4_ENST00000370337.4_Missense_Mutation_p.R299C|MAGEA4_ENST00000276344.2_Missense_Mutation_p.R299C|MAGEA4_ENST00000370340.3_Missense_Mutation_p.R299C|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000370335.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000393920.1_Missense_Mutation_p.R299C	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	299	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAGAGTTCGCATTGCCTA	0.567																																						ENST00000370340.3																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(895-897)Cgc>Tgc		melanoma antigen family A, 4							118.0	111.0	114.0					X																	151093031		2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151093031C>T		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.895C>T	X.37:g.151093031C>T	ENSP00000353379:p.Arg299Cys					MAGEA4_ENST00000393920.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000276344.2_Missense_Mutation_p.R299C|MAGEA4_ENST00000360243.2_Missense_Mutation_p.R299C|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000370337.4_Missense_Mutation_p.R299C|MAGEA4_ENST00000370335.1_Missense_Mutation_p.R299C	p.R299C			P43358	MAGA4_HUMAN			3	1162	+	Acute lymphoblastic leukemia(192;6.56e-05)		299			MAGE.		Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.895C>T	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371334	0.42003	.	.	ENSG00000147381	ENST00000276344;ENST00000393921;ENST00000370337;ENST00000393920;ENST00000370340;ENST00000370335;ENST00000360243	T;T;T;T;T;T;T	0.01599	4.74;4.74;4.74;4.74;4.74;4.74;4.74	2.55	2.55	0.30701	.	0.240065	0.42964	D	0.000630	T	0.03390	0.0098	M	0.68317	2.08	0.09310	N	1	D	0.76494	0.999	P	0.47645	0.553	T	0.36890	-0.9729	9	.	.	.	.	7.8294	0.29334	0.0:1.0:0.0:0.0	.	299	P43358	MAGA4_HUMAN	C	299	ENSP00000276344:R299C;ENSP00000377498:R299C;ENSP00000359362:R299C;ENSP00000377497:R299C;ENSP00000359365:R299C;ENSP00000359360:R299C;ENSP00000353379:R299C	.	R	+	1	0	MAGEA4	150843687	0.001000	0.12720	0.002000	0.10522	0.017000	0.09413	0.673000	0.25203	1.554000	0.49487	0.292000	0.19580	CGC		0.567	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		8	85	0	0	0	1	0	8	85				
LTBP2	4053	broad.mit.edu	37	14	74995318	74995318	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr14:74995318C>T	ENST00000261978.4	-	12	2622	c.2236G>A	c.(2236-2238)Gag>Aag	p.E746K	LTBP2_ENST00000556690.1_Missense_Mutation_p.E746K	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	746					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGTTCCTCCTCCTCGGCTTTC	0.672																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2236-2238)Gag>Aag		latent transforming growth factor beta binding protein 2							48.0	49.0	49.0					14																	74995318		2203	4299	6502	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74995318C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2236G>A	14.37:g.74995318C>T	ENSP00000261978:p.Glu746Lys					LTBP2_ENST00000556690.1_Missense_Mutation_p.E746K	p.E746K	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	12	2622	-			746					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.2236G>A	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840122	0.91117	.	.	ENSG00000119681	ENST00000261978;ENST00000556690;ENST00000556359	T;T	0.78481	-1.17;-1.18	5.27	5.27	0.74061	.	0.168368	0.27946	N	0.017206	T	0.73651	0.3614	L	0.32530	0.975	0.41548	D	0.988553	D	0.58620	0.983	P	0.52514	0.701	T	0.68577	-0.5372	10	0.06236	T	0.91	.	15.9346	0.79691	0.0:1.0:0.0:0.0	.	746	Q14767	LTBP2_HUMAN	K	746;746;6	ENSP00000261978:E746K;ENSP00000451477:E746K	ENSP00000261978:E746K	E	-	1	0	LTBP2	74065071	1.000000	0.71417	0.998000	0.56505	0.548000	0.35241	3.735000	0.55044	2.735000	0.93741	0.655000	0.94253	GAG		0.672	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		20	15	0	0	0	1	0	20	15				
CPM	1368	broad.mit.edu	37	12	69250317	69250317	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr12:69250317G>A	ENST00000551568.1	-	9	1292	c.1232C>T	c.(1231-1233)cCa>cTa	p.P411L	CPM_ENST00000546373.1_Missense_Mutation_p.P411L|CPM_ENST00000338356.3_Missense_Mutation_p.P411L	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	411					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AGGAATCATTGGGCATGAAGG	0.378																																						ENST00000551568.1																			0				large_intestine(1)|lung(6)|prostate(2)	9						c.(1231-1233)cCa>cTa		carboxypeptidase M							106.0	106.0	106.0					12																	69250317		2203	4300	6503	SO:0001583	missense	1368				anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	g.chr12:69250317G>A	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"""renal carboxypeptidase"", ""urinary carboxypeptidase B"""	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.1232C>T	12.37:g.69250317G>A	ENSP00000448517:p.Pro411Leu					CPM_ENST00000338356.3_Missense_Mutation_p.P411L|CPM_ENST00000546373.1_Missense_Mutation_p.P411L	p.P411L	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		9	1292	-	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		411					B2R800|Q9H2K9	Missense_Mutation	SNP	ENST00000551568.1	37	c.1232C>T	CCDS8987.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359097	0.61403	.	.	ENSG00000135678	ENST00000551568;ENST00000338356;ENST00000546373	T;T;T	0.13657	2.57;2.57;2.57	5.44	5.44	0.79542	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);	0.312626	0.31554	N	0.007458	T	0.10078	0.0247	L	0.32530	0.975	0.49483	D	0.999799	B	0.33494	0.414	B	0.18263	0.021	T	0.19321	-1.0309	9	.	.	.	-8.7851	15.1398	0.72601	0.0:0.0:1.0:0.0	.	411	P14384	CBPM_HUMAN	L	411	ENSP00000448517:P411L;ENSP00000339157:P411L;ENSP00000447255:P411L	.	P	-	2	0	CPM	67536584	1.000000	0.71417	0.945000	0.38365	0.945000	0.59286	5.242000	0.65389	2.726000	0.93360	0.655000	0.94253	CCA		0.378	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320		30	38	0	0	0	1	0	30	38				
ADAR	103	broad.mit.edu	37	1	154573599	154573599	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr1:154573599C>T	ENST00000368474.4	-	2	1718	c.1519G>A	c.(1519-1521)Ggg>Agg	p.G507R	ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000292205.5_Missense_Mutation_p.G550R|ADAR_ENST00000368471.3_Missense_Mutation_p.G212R	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	507	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G507W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCTAACAGCCCGCTGATGGGG	0.527																																						ENST00000368474.4																			1	Substitution - Missense(1)	p.G507W(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(1519-1521)Ggg>Agg		adenosine deaminase, RNA-specific							96.0	98.0	97.0					1																	154573599		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154573599C>T	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.1519G>A	1.37:g.154573599C>T	ENSP00000357459:p.Gly507Arg					ADAR_ENST00000368471.3_Missense_Mutation_p.G212R|ADAR_ENST00000292205.5_Missense_Mutation_p.G550R	p.G507R	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	1718	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		507			DRBM 1.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.1519G>A	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390126	0.82902	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	4.77	4.77	0.60923	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.69984	0.3172	N	0.10837	0.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.78016	-0.2369	10	0.59425	D	0.04	-22.976	18.0082	0.89215	0.0:1.0:0.0:0.0	.	507;507;507	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	R	550;507;212;502	ENSP00000292205:G550R;ENSP00000357459:G507R;ENSP00000357456:G212R;ENSP00000431794:G502R	ENSP00000292205:G550R	G	-	1	0	ADAR	152840223	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	7.112000	0.77086	2.479000	0.83701	0.561000	0.74099	GGG		0.527	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		11	54	0	0	0	1	0	11	54				
FN1	2335	broad.mit.edu	37	2	216289830	216289830	+	Silent	SNP	G	G	A	rs138120768	byFrequency	TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr2:216289830G>A	ENST00000359671.1	-	7	1288	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	FN1_ENST00000345488.5_Silent_p.S341S|FN1_ENST00000357867.4_Silent_p.S341S|FN1_ENST00000446046.1_Silent_p.S341S|FN1_ENST00000443816.1_Silent_p.S341S|FN1_ENST00000356005.4_Silent_p.S341S|FN1_ENST00000354785.4_Silent_p.S341S|FN1_ENST00000323926.6_Silent_p.S341S|FN1_ENST00000432072.2_Silent_p.S341S|FN1_ENST00000426059.1_Silent_p.S341S|FN1_ENST00000336916.4_Silent_p.S341S|FN1_ENST00000346544.3_Silent_p.S341S|FN1_ENST00000357009.2_Silent_p.S341S|FN1_ENST00000421182.1_Silent_p.S341S			P02751	FINC_HUMAN	fibronectin 1	341	Collagen-binding.|Fibronectin type-I 6. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TCTCTTGGCAGCTGACTCCGT	0.413													G|||	9	0.00179712	0.0	0.013	5008	,	,		21160	0.0		0.0	False		,,,				2504	0.0					ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1021-1023)agC>agT		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	,,,,,	0,4406		0,0,2203	189.0	198.0	195.0		1023,1023,1023,1023,1023,1023	5.8	1.0	2	dbSNP_134	195	10,8590	8.4+/-32.0	0,10,4290	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FN1	NM_002026.2,NM_054034.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1	,,,,,	0,10,6493	AA,AG,GG		0.1163,0.0,0.0769	,,,,,	341/2356,341/658,341/2177,341/2297,341/2331,341/2478	216289830	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216289830G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1023C>T	2.37:g.216289830G>A						FN1_ENST00000443816.1_Silent_p.S341S|FN1_ENST00000432072.2_Silent_p.S341S|FN1_ENST00000421182.1_Silent_p.S341S|FN1_ENST00000426059.1_Silent_p.S341S|FN1_ENST00000357867.4_Silent_p.S341S|FN1_ENST00000357009.2_Silent_p.S341S|FN1_ENST00000356005.4_Silent_p.S341S|FN1_ENST00000346544.3_Silent_p.S341S|FN1_ENST00000345488.5_Silent_p.S341S|FN1_ENST00000336916.4_Silent_p.S341S|FN1_ENST00000323926.6_Silent_p.S341S|FN1_ENST00000359671.1_Silent_p.S341S|FN1_ENST00000446046.1_Silent_p.S341S	p.S341S			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	1392	-		Renal(323;0.127)	341			Collagen-binding.|Fibronectin type-I 6.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.1023C>T																																																																																					0.413	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		9	178	0	0	0	1	0	9	178				
AFG3L2	10939	broad.mit.edu	37	18	12337420	12337420	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr18:12337420C>T	ENST00000269143.3	-	16	2326	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	699					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CGTACTTCATCATCTATCAAT	0.428																																						ENST00000269143.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(2095-2097)Gat>Aat		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						126.0	119.0	121.0					18																	12337420		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12337420C>T	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.2095G>A	18.37:g.12337420C>T	ENSP00000269143:p.Asp699Asn						p.D699N	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			16	2326	-			699					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.2095G>A	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747733	0.49257	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.82619	-1.63	5.62	5.62	0.85841	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.538353	0.22369	N	0.060975	T	0.74076	0.3669	N	0.16708	0.43	0.42086	D	0.991275	B	0.06786	0.001	B	0.15870	0.014	T	0.66701	-0.5857	10	0.26408	T	0.33	.	19.6586	0.95855	0.0:1.0:0.0:0.0	.	699	Q9Y4W6	AFG32_HUMAN	N	699;714	ENSP00000269143:D699N	ENSP00000269143:D699N	D	-	1	0	AFG3L2	12327420	0.973000	0.33851	0.998000	0.56505	0.955000	0.61496	2.331000	0.43894	2.656000	0.90262	0.655000	0.94253	GAT		0.428	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		9	46	0	0	0	1	0	9	46				
FNDC1	84624	broad.mit.edu	37	6	159653528	159653528	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr6:159653528G>A	ENST00000297267.9	+	11	2184	c.1984G>A	c.(1984-1986)Gcc>Acc	p.A662T	FNDC1_ENST00000340366.6_Missense_Mutation_p.A599T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	662					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCCAAGGGCGCCTTCGCCCA	0.672																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1984-1986)Gcc>Acc		fibronectin type III domain containing 1							19.0	23.0	22.0					6																	159653528		2010	4133	6143	SO:0001583	missense	84624					extracellular region		g.chr6:159653528G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1984G>A	6.37:g.159653528G>A	ENSP00000297267:p.Ala662Thr					FNDC1_ENST00000340366.6_Missense_Mutation_p.A599T	p.A662T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2184	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	662					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.1984G>A	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.70|13.70	2.315774|2.315774	0.40996|0.40996	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.06528|.	3.29;4.14|.	4.14|4.14	-5.15|-5.15	0.02866|0.02866	.|.	1.873240|.	0.02219|.	N|.	0.063873|.	T|T	0.06962|0.06962	0.0177|0.0177	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.16396|.	0.017;0.01|.	B;B|.	0.10450|.	0.005;0.002|.	T|T	0.35101|0.35101	-0.9802|-0.9802	10|5	0.13470|.	T|.	0.59|.	-0.4303|-0.4303	6.2355|6.2355	0.20760|0.20760	0.4716:0.1416:0.3867:0.0|0.4716:0.1416:0.3867:0.0	.|.	599;662|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	T|H	662;599|557	ENSP00000297267:A662T;ENSP00000342460:A599T|.	ENSP00000297267:A662T|.	A|R	+|+	1|2	0|0	FNDC1|FNDC1	159573518|159573518	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.225000|-1.225000	0.02956|0.02956	-0.810000|-0.810000	0.04375|0.04375	-0.302000|-0.302000	0.09304|0.09304	GCC|CGC		0.672	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		19	23	0	0	0	1	0	19	23				
MS4A2	2206	broad.mit.edu	37	11	59860884	59860884	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr11:59860884C>G	ENST00000278888.3	+	5	492	c.390C>G	c.(388-390)agC>agG	p.S130R		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	130					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TGAGAGGAAGCCTGGGAGCAA	0.488																																						ENST00000278888.3																			0				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(388-390)agC>agG		membrane-spanning 4-domains, subfamily A, member 2	Omalizumab(DB00043)						90.0	84.0	86.0					11																	59860884		2201	4295	6496	SO:0001583	missense	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59860884C>G	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.390C>G	11.37:g.59860884C>G	ENSP00000278888:p.Ser130Arg						p.S130R	NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN			5	492	+		all_epithelial(135;0.245)	130					Q54A81	Missense_Mutation	SNP	ENST00000278888.3	37	c.390C>G	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281261	0.40394	.	.	ENSG00000149534	ENST00000278888	T	0.03124	4.04	4.21	-3.24	0.05094	.	0.583279	0.19245	N	0.119061	T	0.05135	0.0137	M	0.84846	2.72	0.20196	N	0.999924	B;B	0.09022	0.002;0.002	B;B	0.14578	0.011;0.011	T	0.33343	-0.9872	10	0.51188	T	0.08	0.0641	2.2146	0.03956	0.4228:0.3345:0.1226:0.1201	.	60;130	Q14298;Q01362	.;FCERB_HUMAN	R	130	ENSP00000278888:S130R	ENSP00000278888:S130R	S	+	3	2	MS4A2	59617460	0.004000	0.15560	0.032000	0.17829	0.733000	0.41908	-0.956000	0.03865	-0.580000	0.05944	0.650000	0.86243	AGC		0.488	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			20	59	0	0	0	1	0	20	59				
CTNND2	1501	broad.mit.edu	37	5	11023079	11023079	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr5:11023079A>C	ENST00000304623.8	-	17	2990	c.2801T>G	c.(2800-2802)aTg>aGg	p.M934R	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.M876R|CTNND2_ENST00000458100.2_Missense_Mutation_p.M501R|CTNND2_ENST00000503622.1_Missense_Mutation_p.M597R|CTNND2_ENST00000511377.1_Missense_Mutation_p.M843R	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	934					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						TAGGTCTCGCATGGCGTATTT	0.507																																						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.(2800-2802)aTg>aGg		catenin (cadherin-associated protein), delta 2							136.0	110.0	119.0					5																	11023079		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.chr5:11023079A>C	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.2801T>G	5.37:g.11023079A>C	ENSP00000307134:p.Met934Arg					CTNND2_ENST00000458100.2_Missense_Mutation_p.M501R|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.M843R|CTNND2_ENST00000503622.1_Missense_Mutation_p.M597R|CTNND2_ENST00000359640.2_Missense_Mutation_p.M876R	p.M934R	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			17	2990	-			934					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2801T>G	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.259474	0.80246	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67776	0.2929	M	0.78049	2.395	0.80722	D	1	D;D;P	0.53885	0.963;0.963;0.94	P;P;P	0.60789	0.879;0.879;0.769	T	0.72194	-0.4364	10	0.87932	D	0	-23.2269	16.1699	0.81801	1.0:0.0:0.0:0.0	.	597;526;934	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	R	934;876;843;29;501;597	ENSP00000307134:M934R;ENSP00000352661:M876R;ENSP00000426510:M843R;ENSP00000391155:M501R;ENSP00000426887:M597R	ENSP00000307134:M934R	M	-	2	0	CTNND2	11076079	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.262000	0.95591	2.217000	0.71921	0.533000	0.62120	ATG		0.507	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		18	35	0	0	0	1	0	18	35				
ZIC1	7545	broad.mit.edu	37	3	147128235	147128235	+	Silent	SNP	G	G	A			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr3:147128235G>A	ENST00000282928.4	+	1	1065	c.336G>A	c.(334-336)gcG>gcA	p.A112A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	112	Poly-Ala.				adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACGCGGCGGCGGCAGCCAGCG	0.701																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(334-336)gcG>gcA		Zic family member 1							12.0	15.0	14.0					3																	147128235		2010	4135	6145	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128235G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.336G>A	3.37:g.147128235G>A							p.A112A	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	1065	+			112			Poly-Ala.		Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.336G>A	CCDS3136.1																																																																																				0.701	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		10	14	0	0	0	1	0	10	14				
LIMK1	3984	broad.mit.edu	37	7	73520433	73520433	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr7:73520433C>G	ENST00000336180.2	+	7	792	c.741C>G	c.(739-741)agC>agG	p.S247R	LIMK1_ENST00000538333.3_Missense_Mutation_p.S213R|LIMK1_ENST00000418310.1_Missense_Mutation_p.S277R	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	247	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.		S -> N (in dbSNP:rs55661242). {ECO:0000269|PubMed:17344846}.		actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	AGGAAACCAGCCGCCTGCTCC	0.632																																						ENST00000418310.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(829-831)agC>agG		LIM domain kinase 1							135.0	135.0	135.0					7																	73520433		2203	4300	6503	SO:0001583	missense	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73520433C>G	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.741C>G	7.37:g.73520433C>G	ENSP00000336740:p.Ser247Arg					LIMK1_ENST00000336180.2_Missense_Mutation_p.S247R|LIMK1_ENST00000538333.3_Missense_Mutation_p.S213R	p.S277R			P53667	LIMK1_HUMAN			7	933	+		Lung NSC(55;0.137)	247					B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	c.831C>G	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334586	0.60853	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	T;T;T	0.55234	0.53;0.53;0.53	4.84	3.04	0.35103	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.63733	0.2536	L	0.54323	1.7	0.53688	D	0.999977	D;D;D	0.89917	1.0;0.985;0.996	D;D;D	0.91635	0.999;0.949;0.962	T	0.60860	-0.7179	10	0.51188	T	0.08	-42.1968	9.1075	0.36707	0.0:0.8198:0.0:0.1802	.	142;213;247	Q59FA3;B7Z6I8;P53667	.;.;LIMK1_HUMAN	R	277;247;247;213	ENSP00000409717:S277R;ENSP00000336740:S247R;ENSP00000444452:S213R	ENSP00000336740:S247R	S	+	3	2	LIMK1	73158369	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.638000	0.37165	0.493000	0.27837	-0.266000	0.10368	AGC		0.632	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		41	62	0	0	0	1	0	41	62				
NLRC5	84166	broad.mit.edu	37	16	57099144	57099144	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr16:57099144A>G	ENST00000262510.6	+	33	4400	c.4175A>G	c.(4174-4176)gAc>gGc	p.D1392G	NLRC5_ENST00000539144.1_Missense_Mutation_p.D1363G|NLRC5_ENST00000436936.1_Missense_Mutation_p.D1392G|NLRC5_ENST00000308149.7_Missense_Mutation_p.D1363G	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1392					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCGTGGGCGGACAGAGCCAGG	0.602																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(4174-4176)gAc>gGc		NLR family, CARD domain containing 5							32.0	33.0	33.0					16																	57099144		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57099144A>G	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4175A>G	16.37:g.57099144A>G	ENSP00000262510:p.Asp1392Gly					NLRC5_ENST00000539144.1_Missense_Mutation_p.D1363G|NLRC5_ENST00000262510.6_Missense_Mutation_p.D1392G|NLRC5_ENST00000308149.7_Missense_Mutation_p.D1363G	p.D1392G			Q86WI3	NLRC5_HUMAN			33	4400	+		all_neural(199;0.225)	1392					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.4175A>G	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	A	1.274	-0.612171	0.03690	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	T;T;T;T	0.70045	0.97;-0.45;0.97;-0.45	3.82	1.79	0.24919	.	.	.	.	.	T	0.39708	0.1088	N	0.05124	-0.11	0.22142	N	0.999333	B	0.02656	0.0	B	0.01281	0.0	T	0.21177	-1.0253	9	0.22109	T	0.4	.	6.0934	0.20007	0.2451:0.0:0.7549:0.0	.	1392	Q86WI3	NLRC5_HUMAN	G	1392;1363;1392;1363	ENSP00000262510:D1392G;ENSP00000308886:D1363G;ENSP00000389739:D1392G;ENSP00000441727:D1363G	ENSP00000262510:D1392G	D	+	2	0	NLRC5	55656645	0.021000	0.18746	0.832000	0.32986	0.088000	0.18126	0.039000	0.13884	0.530000	0.28619	-0.261000	0.10672	GAC		0.602	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		6	12	0	0	0	1	0	6	12				
DCHS2	54798	broad.mit.edu	37	4	155253944	155253944	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr4:155253944G>A	ENST00000357232.4	-	9	1918	c.1919C>T	c.(1918-1920)aCg>aTg	p.T640M	DCHS2_ENST00000339452.1_Missense_Mutation_p.T1139M|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	640	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATCCAGCCCGTGTAAGGGCG	0.517																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1918-1920)aCg>aTg		dachsous cadherin-related 2							50.0	53.0	52.0					4																	155253944		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155253944G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1919C>T	4.37:g.155253944G>A	ENSP00000349768:p.Thr640Met					DCHS2_ENST00000339452.1_Missense_Mutation_p.T1139M	p.T640M	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1918	-	all_hematologic(180;0.208)	Renal(120;0.0854)	640			Cadherin 5.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.1919C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781318	0.90282	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.66280	-0.2;-0.2	5.06	4.2	0.49525	Cadherin (3);Cadherin-like (1);	0.097204	0.43110	D	0.000605	D	0.82761	0.5107	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.974	D	0.87258	0.2277	10	0.87932	D	0	.	15.3671	0.74531	0.0:0.2634:0.7366:0.0	.	1139;640	E9PC11;Q6V1P9	.;PCD23_HUMAN	M	640;1139;1139	ENSP00000349768:T640M;ENSP00000345062:T1139M	ENSP00000345062:T1139M	T	-	2	0	DCHS2	155473394	0.998000	0.40836	0.026000	0.17262	0.764000	0.43329	2.762000	0.47597	1.206000	0.43276	0.655000	0.94253	ACG		0.517	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		30	41	0	0	0	1	0	30	41				
FCRL6	343413	broad.mit.edu	37	1	159778953	159778953	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr1:159778953C>A	ENST00000368106.3	+	4	523	c.522C>A	c.(520-522)gaC>gaA	p.D174E	FCRL6_ENST00000321935.6_Missense_Mutation_p.D181E|FCRL6_ENST00000339348.5_Missense_Mutation_p.D174E|FCRL6_ENST00000392235.3_Intron	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	174	Ig-like C2-type 2.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AGGAGGGAGACTCTGGGCTTT	0.627																																						ENST00000321935.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(541-543)gaC>gaA		Fc receptor-like 6							50.0	56.0	54.0					1																	159778953		2203	4300	6503	SO:0001583	missense	343413					integral to membrane		g.chr1:159778953C>A	AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.522C>A	1.37:g.159778953C>A	ENSP00000357086:p.Asp174Glu					FCRL6_ENST00000368106.3_Missense_Mutation_p.D174E|FCRL6_ENST00000339348.5_Missense_Mutation_p.D174E|FCRL6_ENST00000392235.3_Intron	p.D181E			Q6DN72	FCRL6_HUMAN			5	629	+	all_hematologic(112;0.0597)		174			Ig-like C2-type 2.		A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	ENST00000368106.3	37	c.543C>A	CCDS30912.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239124	0.22711	.	.	ENSG00000181036	ENST00000321935;ENST00000339348;ENST00000368106	T;T;T	0.06142	3.34;3.34;3.34	4.64	1.7	0.24286	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.212117	0.23852	N	0.043932	T	0.08044	0.0201	M	0.79343	2.45	0.23962	N	0.996333	P;D;D	0.67145	0.864;0.996;0.987	P;P;P	0.61328	0.644;0.887;0.655	T	0.12604	-1.0541	10	0.36615	T	0.2	.	7.0091	0.24853	0.0:0.6956:0.0:0.3044	.	174;174;181	Q6DN72-3;Q6DN72;Q6DN72-2	.;FCRL6_HUMAN;.	E	181;174;174	ENSP00000320625:D181E;ENSP00000340949:D174E;ENSP00000357086:D174E	ENSP00000320625:D181E	D	+	3	2	FCRL6	158045577	0.011000	0.17503	0.970000	0.41538	0.145000	0.21501	-0.577000	0.05847	0.391000	0.25143	-0.237000	0.12165	GAC		0.627	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310		22	28	1	0	1.10513e-12	1	1.2179e-12	22	28				
ZNF831	128611	broad.mit.edu	37	20	57767047	57767047	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr20:57767047A>G	ENST00000371030.2	+	1	973	c.973A>G	c.(973-975)Aag>Gag	p.K325E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	325							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGCAGCGGAGAAGCCCTGGGA	0.711																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(973-975)Aag>Gag		zinc finger protein 831							11.0	14.0	13.0					20																	57767047		1673	3891	5564	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767047A>G	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.973A>G	20.37:g.57767047A>G	ENSP00000360069:p.Lys325Glu						p.K325E	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	973	+	all_lung(29;0.0085)		325					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.973A>G	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.127275	0.56721	.	.	ENSG00000124203	ENST00000371030	T	0.05649	3.41	5.5	5.5	0.81552	.	.	.	.	.	T	0.08403	0.0209	L	0.41236	1.265	0.32135	N	0.586282	P	0.47106	0.89	B	0.41271	0.352	T	0.03433	-1.1037	9	0.87932	D	0	-23.8156	14.7942	0.69865	1.0:0.0:0.0:0.0	.	325	Q5JPB2	ZN831_HUMAN	E	325	ENSP00000360069:K325E	ENSP00000360069:K325E	K	+	1	0	ZNF831	57200442	1.000000	0.71417	0.980000	0.43619	0.277000	0.26821	4.053000	0.57427	2.083000	0.62718	0.533000	0.62120	AAG		0.711	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		13	24	0	0	0	1	0	13	24				
WTAP	9589	broad.mit.edu	37	6	160174524	160174524	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr6:160174524G>C	ENST00000358372.4	+	7	2242	c.485G>C	c.(484-486)cGa>cCa	p.R162P	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	162					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GCGAAGTGTCGAATGCTTATC	0.428																																						ENST00000358372.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(484-486)cGa>cCa		Wilms tumor 1 associated protein							124.0	117.0	120.0					6																	160174524		2203	4300	6503	SO:0001583	missense	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160174524G>C	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.485G>C	6.37:g.160174524G>C	ENSP00000351141:p.Arg162Pro					SOD2_ENST00000546087.1_Intron	p.R162P	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	7	2242	+		Breast(66;0.000776)|Ovarian(120;0.0303)	162					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	c.485G>C	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	G	35	5.508377	0.96386	.	.	ENSG00000146457	ENST00000358372	T	0.49432	0.78	6.17	6.17	0.99709	.	0.066055	0.64402	D	0.000005	T	0.69387	0.3105	M	0.83953	2.67	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.71656	0.974;0.899	T	0.70809	-0.4771	10	0.72032	D	0.01	-1.0237	20.8794	0.99867	0.0:0.0:1.0:0.0	.	162;162	A8K489;Q15007	.;FL2D_HUMAN	P	162	ENSP00000351141:R162P	ENSP00000351141:R162P	R	+	2	0	WTAP	160094514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.841000	0.99482	2.941000	0.99782	0.655000	0.94253	CGA		0.428	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		17	26	0	0	0	1	0	17	26				
LONRF1	91694	broad.mit.edu	37	8	12600768	12600768	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr8:12600768T>G	ENST00000398246.3	-	2	814	c.745A>C	c.(745-747)Att>Ctt	p.I249L	LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	249							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GCTCTGTAAATTTTTACAATC	0.303																																						ENST00000398246.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(745-747)Att>Ctt		LON peptidase N-terminal domain and ring finger 1							58.0	55.0	56.0					8																	12600768		1781	4054	5835	SO:0001583	missense	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12600768T>G	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.745A>C	8.37:g.12600768T>G	ENSP00000381298:p.Ile249Leu					LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	p.I249L	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	2	814	-			249					B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	ENST00000398246.3	37	c.745A>C	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	T	3.592	-0.083480	0.07141	.	.	ENSG00000154359	ENST00000398246	T	0.27256	1.68	4.95	2.6	0.31112	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.145090	0.29015	U	0.013420	T	0.11153	0.0272	N	0.14661	0.345	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.11641	-1.0579	10	0.07175	T	0.84	-7.006	7.3795	0.26847	0.0:0.3041:0.0:0.6959	.	249	Q17RB8	LONF1_HUMAN	L	249	ENSP00000381298:I249L	ENSP00000381298:I249L	I	-	1	0	LONRF1	12645139	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	0.954000	0.29175	0.971000	0.38288	0.482000	0.46254	ATT		0.303	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		17	5	0	0	0	1	0	17	5				
OR6K2	81448	broad.mit.edu	37	1	158669500	158669500	+	Missense_Mutation	SNP	C	C	T	rs141972386		TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr1:158669500C>T	ENST00000359610.2	-	1	986	c.943G>A	c.(943-945)Gta>Ata	p.V315I		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V315I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CCTGGTCTTACGGAAAAAAAT	0.368																																						ENST00000359610.2																			1	Substitution - Missense(1)	p.V315I(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(943-945)Gta>Ata		olfactory receptor, family 6, subfamily K, member 2		T	ILE/VAL	1,4405	825.9+/-416.6	0,1,2202	72.0	70.0	71.0		943	-9.4	0.0	1	dbSNP_134	71	0,8600		0,0,4300	no	missense	OR6K2	NM_001005279.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	315/325	158669500	1,13005	2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669500C>T	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.943G>A	1.37:g.158669500C>T	ENSP00000352626:p.Val315Ile						p.V315I	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	986	-	all_hematologic(112;0.0378)		315					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.943G>A	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	T	0.017	-1.500215	0.01001	2.27E-4	0.0	ENSG00000196171	ENST00000359610	T	0.01005	5.45	4.69	-9.38	0.00623	.	.	.	.	.	T	0.00109	0.0003	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48293	-0.9048	9	0.07813	T	0.8	.	2.6891	0.05116	0.2475:0.2546:0.3735:0.1244	.	315	Q8NGY2	OR6K2_HUMAN	I	315	ENSP00000352626:V315I	ENSP00000352626:V315I	V	-	1	0	OR6K2	156936124	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.204000	0.03017	-3.694000	0.00120	-1.327000	0.01280	GTA		0.368	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		16	27	0	0	0	1	0	16	27				
ATP9B	374868	broad.mit.edu	37	18	76873307	76873307	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr18:76873307G>C	ENST00000426216.2	+	4	528	c.511G>C	c.(511-513)Gta>Cta	p.V171L	ATP9B_ENST00000586722.1_Missense_Mutation_p.V171L|ATP9B_ENST00000307671.7_Missense_Mutation_p.V171L|ATP9B_ENST00000458297.2_Missense_Mutation_p.V119L|ATP9B_ENST00000591464.1_Intron	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	171					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CTCACAGTTTGTACCAGCATT	0.289																																						ENST00000426216.2																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38						c.(511-513)Gta>Cta		ATPase, class II, type 9B							52.0	52.0	52.0					18																	76873307		2203	4297	6500	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:76873307G>C	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.511G>C	18.37:g.76873307G>C	ENSP00000398076:p.Val171Leu					ATP9B_ENST00000586722.1_Missense_Mutation_p.V171L|ATP9B_ENST00000307671.7_Missense_Mutation_p.V171L|ATP9B_ENST00000458297.2_Missense_Mutation_p.V119L|ATP9B_ENST00000591464.1_Intron	p.V171L	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	4	528	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	171					O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.511G>C	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010320	0.75046	.	.	ENSG00000166377	ENST00000542323;ENST00000426216;ENST00000307671;ENST00000458297	T;T;T	0.69561	-0.41;-0.41;-0.41	5.86	4.99	0.66335	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.108059	0.64402	D	0.000006	T	0.57902	0.2085	N	0.25789	0.76	0.80722	D	1	P;P;B	0.39903	0.568;0.694;0.198	B;B;B	0.40410	0.175;0.328;0.171	T	0.63752	-0.6566	10	0.87932	D	0	.	15.0903	0.72188	0.0679:0.0:0.9321:0.0	.	171;171;171	O43861;O43861-2;B4DJ94	ATP9B_HUMAN;.;.	L	94;171;171;119	ENSP00000398076:V171L;ENSP00000304500:V171L;ENSP00000442794:V119L	ENSP00000304500:V171L	V	+	1	0	ATP9B	74974295	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.223000	0.72257	1.489000	0.48450	0.591000	0.81541	GTA		0.289	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		3	54	0	0	0	1	0	3	54				
POSTN	10631	broad.mit.edu	37	13	38138690	38138690	+	Silent	SNP	G	G	A			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr13:38138690G>A	ENST00000379747.4	-	22	2556	c.2439C>T	c.(2437-2439)ccC>ccT	p.P813P	POSTN_ENST00000379742.4_Silent_p.P756P|POSTN_ENST00000379743.4_Silent_p.P786P|POSTN_ENST00000541179.1_Silent_p.P758P|POSTN_ENST00000379749.4_Silent_p.P785P|POSTN_ENST00000541481.1_Silent_p.P726P	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	813					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ACTTCCTCACGGGTGTGTCTA	0.348																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2437-2439)ccC>ccT		periostin, osteoblast specific factor							149.0	136.0	140.0					13																	38138690		2203	4300	6503	SO:0001819	synonymous_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38138690G>A	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2439C>T	13.37:g.38138690G>A						POSTN_ENST00000541481.1_Silent_p.P726P|POSTN_ENST00000541179.1_Silent_p.P758P|POSTN_ENST00000379742.4_Silent_p.P756P|POSTN_ENST00000379749.4_Silent_p.P785P|POSTN_ENST00000379743.4_Silent_p.P786P	p.P813P	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	22	2556	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	813					B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	ENST00000379747.4	37	c.2439C>T	CCDS9364.1																																																																																				0.348	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		4	85	0	0	0	1	0	4	85				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	38	0	0	0	1	0	3	38				
ACP1	52	broad.mit.edu	37	2	271876	271876	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr2:271876T>G	ENST00000272065.5	+	2	147	c.54T>G	c.(52-54)tgT>tgG	p.C18W	ACP1_ENST00000272067.6_Missense_Mutation_p.C18W|ACP1_ENST00000407983.3_Missense_Mutation_p.C18W|ACP1_ENST00000405233.1_Missense_Mutation_p.C18W|ACP1_ENST00000439645.2_Missense_Mutation_p.C18W|ACP1_ENST00000484464.1_3'UTR	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	18				CLGNICRS -> PARREAAR (in Ref. 5; AAB27085). {ECO:0000305}.		cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	GTAACATTTGTCGATCACCCA	0.453																																						ENST00000272067.6																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12						c.(52-54)tgT>tgG		acid phosphatase 1, soluble							120.0	123.0	122.0					2																	271876		2203	4300	6503	SO:0001583	missense	52					cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:271876T>G	M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"""Protein tyrosine phosphatases / Class II Cys-based PTPs"""	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.54T>G	2.37:g.271876T>G	ENSP00000272065:p.Cys18Trp					ACP1_ENST00000272065.5_Missense_Mutation_p.C18W|ACP1_ENST00000439645.2_Missense_Mutation_p.C18W|ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000407983.3_Missense_Mutation_p.C18W|ACP1_ENST00000405233.1_Missense_Mutation_p.C18W	p.C18W	NM_007099.3	NP_009030.1	P24666	PPAC_HUMAN		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	2	150	+	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)	18	CLGNICRS -> PARREAAR (in Ref. 5; AAB27085).				A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Missense_Mutation	SNP	ENST00000272065.5	37	c.54T>G	CCDS1639.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.562201	0.65538	.	.	ENSG00000143727	ENST00000272067;ENST00000272065;ENST00000407983;ENST00000439645;ENST00000405233;ENST00000449425	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.63	-5.27	0.02763	Phosphotyrosine protein phosphatase I superfamily (3);	0.000000	0.85682	D	0.000000	T	0.77785	0.4182	H	0.99074	4.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83898	0.0288	10	0.87932	D	0	-12.9314	14.9717	0.71238	0.0:0.6352:0.0:0.3648	.	18;18;18	P24666-2;P24666;B5MCC7	.;PPAC_HUMAN;.	W	18	ENSP00000272067:C18W;ENSP00000272065:C18W;ENSP00000385404:C18W;ENSP00000408596:C18W;ENSP00000384307:C18W	ENSP00000272065:C18W	C	+	3	2	ACP1	261876	0.993000	0.37304	0.909000	0.35828	0.992000	0.81027	0.233000	0.17911	-0.941000	0.03700	-0.290000	0.09829	TGT		0.453	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195862.3			34	37	0	0	0	1	0	34	37				
ZIC4	84107	broad.mit.edu	37	3	147108912	147108913	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr3:147108912_147108913insC	ENST00000383075.3	-	4	1321_1322	c.809_810insG	c.(808-810)ggcfs	p.G270fs	ZIC4_ENST00000425731.3_Frame_Shift_Ins_p.G308fs|ZIC4_ENST00000473123.1_Frame_Shift_Ins_p.G270fs|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Frame_Shift_Ins_p.G270fs|ZIC4_ENST00000525172.2_Frame_Shift_Ins_p.G320fs|ZIC4_ENST00000491672.1_Frame_Shift_Ins_p.G64fs	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	270						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						ACTTGTCGCAGCCCCGCACCTT	0.639																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(808-810)gtgfs		Zic family member 4																																				SO:0001589	frameshift_variant	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108912_147108913insC	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.810dupG	3.37:g.147108916_147108916dupC	ENSP00000372553:p.Gly270fs					ZIC4_ENST00000425731.3_Frame_Shift_Ins_p.V308fs|ZIC4_ENST00000484399.1_Frame_Shift_Ins_p.V270fs|ZIC4_ENST00000473123.1_Frame_Shift_Ins_p.V270fs|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000491672.1_Frame_Shift_Ins_p.V64fs|ZIC4_ENST00000525172.2_Frame_Shift_Ins_p.V320fs	p.V270fs	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			4	1321_1322	-			270					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Frame_Shift_Ins	INS	ENST00000383075.3	37	c.809_810insG	CCDS43160.1																																																																																				0.639	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			21	26						21	26	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184046495	184046496	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr3:184046495_184046496insT	ENST00000346169.2	+	27	4301_4302	c.4030_4031insT	c.(4030-4032)gtafs	p.V1344fs	EIF4G1_ENST00000382330.3_Frame_Shift_Ins_p.V1351fs|EIF4G1_ENST00000350481.5_Frame_Shift_Ins_p.V1180fs|EIF4G1_ENST00000414031.1_Frame_Shift_Ins_p.V1304fs|EIF4G1_ENST00000434061.2_Frame_Shift_Ins_p.V1149fs|EIF4G1_ENST00000319274.6_Frame_Shift_Ins_p.V1344fs|EIF4G1_ENST00000352767.3_Frame_Shift_Ins_p.V1351fs|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000342981.4_Frame_Shift_Ins_p.V1345fs|EIF4G1_ENST00000411531.1_Frame_Shift_Ins_p.V1305fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Frame_Shift_Ins_p.V1148fs|EIF4G1_ENST00000441154.1_Frame_Shift_Ins_p.V1181fs|EIF4G1_ENST00000424196.1_Frame_Shift_Ins_p.V1351fs|EIF4G1_ENST00000427845.1_Frame_Shift_Ins_p.V1258fs|EIF4G1_ENST00000392537.2_Frame_Shift_Ins_p.V1257fs	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1344	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCGGAACTGGTAACACCCATT	0.53																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(4033-4035)aacfs		eukaryotic translation initiation factor 4 gamma, 1																																				SO:0001589	frameshift_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184046495_184046496insT	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4031dupT	3.37:g.184046496_184046496dupT	ENSP00000316879:p.Val1344fs					EIF4G1_ENST00000352767.3_Frame_Shift_Ins_p.N1351fs|EIF4G1_ENST00000411531.1_Frame_Shift_Ins_p.N1305fs|EIF4G1_ENST00000382330.3_Frame_Shift_Ins_p.N1351fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Frame_Shift_Ins_p.N1344fs|EIF4G1_ENST00000414031.1_Frame_Shift_Ins_p.N1304fs|EIF4G1_ENST00000441154.1_Frame_Shift_Ins_p.N1181fs|EIF4G1_ENST00000319274.6_Frame_Shift_Ins_p.N1344fs|EIF4G1_ENST00000392537.2_Frame_Shift_Ins_p.N1257fs|EIF4G1_ENST00000427845.1_Frame_Shift_Ins_p.N1258fs|EIF4G1_ENST00000350481.5_Frame_Shift_Ins_p.N1180fs|EIF4G1_ENST00000434061.2_Frame_Shift_Ins_p.N1149fs|EIF4G1_ENST00000424196.1_Frame_Shift_Ins_p.N1351fs|EIF4G1_ENST00000435046.2_Frame_Shift_Ins_p.N1148fs	p.N1345fs	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		26	4447_4448	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1344			MI.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Frame_Shift_Ins	INS	ENST00000346169.2	37	c.4033_4034insT	CCDS3259.1																																																																																				0.530	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		45	69						45	69	---	---	---	---
KAT6B	23522	broad.mit.edu	37	10	76784946	76784949	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr10:76784946_76784949delACAA	ENST00000287239.4	+	17	4092_4095	c.3603_3606delACAA	c.(3601-3606)agacaafs	p.RQ1201fs	KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000490365.1_3'UTR|RP11-77G23.5_ENST00000436608.1_RNA|RP11-77G23.2_ENST00000413431.1_RNA	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1201					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGAAGAAAAGACAAACAGAGGAAG	0.451																																						ENST00000287239.4																			0											c.(3601-3606)agfs		K(lysine) acetyltransferase 6B																																				SO:0001589	frameshift_variant	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76784946_76784949delACAA	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3603_3606delACAA	10.37:g.76784946_76784949delACAA	ENSP00000287239:p.Arg1201fs					KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|KAT6B_ENST00000490365.1_3'UTR	p.RQ1201fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			17	4092_4095	+			1201					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Frame_Shift_Del	DEL	ENST00000287239.4	37	c.3603_3606delACAA	CCDS7345.1																																																																																				0.451	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		14	23						14	23	---	---	---	---
