#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SYNC	81493	broad.mit.edu	37	1	33149934	33149934	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr1:33149934A>G	ENST00000409190.3	-	3	1741	c.1283T>C	c.(1282-1284)gTg>gCg	p.V428A	RBBP4_ENST00000373493.5_3'UTR|SYNC_ENST00000373484.3_Missense_Mutation_p.V428A	NM_030786.2	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	428	Coil 2.				intermediate filament-based process (GO:0045103)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTGGAGTTGCACCCCATTTCT	0.433																																						ENST00000373484.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1282-1284)gTg>gCg		syncoilin, intermediate filament protein							206.0	183.0	191.0					1																	33149934		2203	4300	6503	SO:0001583	missense	81493					intermediate filament|perinuclear region of cytoplasm	structural molecule activity	g.chr1:33149934A>G	AK024707	CCDS367.2, CCDS53294.1	1p35.1	2013-01-16	2008-09-19	2008-09-19	ENSG00000162520	ENSG00000162520		"""Intermediate filaments type III"""	28897	protein-coding gene	gene with protein product		611750	"""syncoilin, intermediate filament 1"""	SYNC1		11053421	Standard	NM_030786		Approved	SYNCOILIN	uc001bvt.2	Q9H7C4	OTTHUMG00000008087	ENST00000409190.3:c.1283T>C	1.37:g.33149934A>G	ENSP00000386439:p.Val428Ala					SYNC_ENST00000409190.3_Missense_Mutation_p.V428A|RBBP4_ENST00000373493.5_3'UTR	p.V428A	NM_001161708.1	NP_001155180	Q9H7C4	SYNCI_HUMAN			3	1382	-			428			Coil 2.		B4DNK8|B4DY58|C9IY41	Missense_Mutation	SNP	ENST00000409190.3	37	c.1283T>C	CCDS367.2	.	.	.	.	.	.	.	.	.	.	A	23.3	4.400325	0.83120	.	.	ENSG00000162520	ENST00000373484;ENST00000409190	D;D	0.88741	-2.42;-2.42	5.56	5.56	0.83823	Filament (1);	0.091894	0.46145	D	0.000311	D	0.89462	0.6722	N	0.14661	0.345	0.40745	D	0.98286	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	D	0.91867	0.5504	10	0.87932	D	0	-15.3955	15.2049	0.73173	1.0:0.0:0.0:0.0	.	428;428	Q9H7C4-2;Q9H7C4	.;SYNCI_HUMAN	A	428	ENSP00000362583:V428A;ENSP00000386439:V428A	ENSP00000362583:V428A	V	-	2	0	SYNC	32922521	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	6.189000	0.72051	2.257000	0.74773	0.459000	0.35465	GTG		0.433	SYNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022129.3	NM_030786		6	81	6	81	---	---	---	---
TOR3A	64222	broad.mit.edu	37	1	179064325	179064325	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr1:179064325C>T	ENST00000367627.3	+	6	1918	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	TOR3A_ENST00000352445.6_Intron	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	389					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						AAGTCTATTTCCCAGAGGATT	0.493																																						ENST00000367627.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(1165-1167)tCc>tTc		torsin family 3, member A							158.0	165.0	163.0					1																	179064325		2203	4300	6503	SO:0001583	missense	64222				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding	g.chr1:179064325C>T	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.1166C>T	1.37:g.179064325C>T	ENSP00000356599:p.Ser389Phe					TOR3A_ENST00000352445.6_Intron	p.S389F	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN			6	1918	+			389					B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	c.1166C>T	CCDS1329.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052770	0.75960	.	.	ENSG00000186283	ENST00000367627	T	0.61742	0.08	5.91	5.91	0.95273	.	0.352416	0.34362	N	0.004024	T	0.75265	0.3826	M	0.76838	2.35	0.80722	D	1	D	0.67145	0.996	P	0.61328	0.887	T	0.73442	-0.3981	10	0.39692	T	0.17	-23.5423	19.2867	0.94077	0.0:1.0:0.0:0.0	.	389	Q9H497	TOR3A_HUMAN	F	389	ENSP00000356599:S389F	ENSP00000356599:S389F	S	+	2	0	TOR3A	177330948	0.961000	0.32948	0.989000	0.46669	0.972000	0.66771	7.456000	0.80751	2.793000	0.96121	0.655000	0.94253	TCC		0.493	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		8	131	8	131	---	---	---	---
SP3	6670	broad.mit.edu	37	2	174820690	174820690	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr2:174820690C>A	ENST00000310015.6	-	4	1080	c.550G>T	c.(550-552)Gtt>Ttt	p.V184F	SP3_ENST00000455789.2_Missense_Mutation_p.V131F|SP3_ENST00000483084.1_5'Flank|SP3_ENST00000418194.2_Missense_Mutation_p.V116F	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	184	Transactivation domain (Gln-rich).				B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CCAATTTGAACCTGCTGACCA	0.413																																						ENST00000310015.6																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(550-552)Gtt>Ttt		Sp3 transcription factor							240.0	243.0	242.0					2																	174820690		2203	4300	6503	SO:0001583	missense	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174820690C>A	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.550G>T	2.37:g.174820690C>A	ENSP00000310301:p.Val184Phe					SP3_ENST00000418194.2_Missense_Mutation_p.V116F|SP3_ENST00000455789.2_Missense_Mutation_p.V131F	p.V184F	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		4	1080	-			184			Transactivation domain (Gln-rich).		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	c.550G>T	CCDS2254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.68|15.68	2.903941|2.903941	0.52333|0.52333	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000416195|ENST00000310015;ENST00000455789;ENST00000418194	.|T;T;T	.|0.05996	.|3.37;3.36;3.36	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.09949|0.09949	0.0244|0.0244	L|L	0.43152|0.43152	1.355|1.355	0.46798|0.46798	D|D	0.999207|0.999207	.|B;B;B	.|0.15719	.|0.014;0.014;0.012	.|B;B;B	.|0.10450	.|0.004;0.004;0.005	T|T	0.09207|0.09207	-1.0685|-1.0685	5|10	.|0.87932	.|D	.|0	.|.	20.3748|20.3748	0.98911|0.98911	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|181;184;131	.|B7ZLN9;Q02447;Q02447-6	.|.;SP3_HUMAN;.	S|F	140|184;131;116	.|ENSP00000310301:V184F;ENSP00000388903:V131F;ENSP00000406140:V116F	.|ENSP00000310301:V184F	R|V	-|-	3|1	2|0	SP3|SP3	174528936|174528936	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.955000|4.955000	0.63638|0.63638	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	AGG|GTT		0.413	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		29	159	29	159	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179403722	179403722	+	Silent	SNP	C	C	T	rs371041107		TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr2:179403722C>T	ENST00000591111.1	-	303	94241	c.94017G>A	c.(94015-94017)ctG>ctA	p.L31339L	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.L24040L|TTN_ENST00000460472.2_Silent_p.L23915L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Silent_p.L32980L|TTN_ENST00000342992.6_Silent_p.L30412L|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342175.6_Silent_p.L24107L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585487.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592182.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31339	Fibronectin type-III 128. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTCTCACTCAGGCCAACAT	0.458																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(98938-98940)ctG>ctA		titin		C	,,,	0,4124		0,0,2062	159.0	157.0	158.0		71745,91236,72120,72321	-12.1	0.1	2		158	1,8391		0,1,4195	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6257	TT,TC,CC		0.0119,0.0,0.0080	,,,	23915/26927,30412/33424,24040/27052,24107/27119	179403722	1,12515	2062	4196	6258	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179403722C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94017G>A	2.37:g.179403722C>T						TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.L24107L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.L24040L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Silent_p.L23915L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Silent_p.L31339L|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.L30412L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.L32980L	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)		353	99164	-			31339					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.98940G>A																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	31	7	31	---	---	---	---
C4orf19	55286	broad.mit.edu	37	4	37591911	37591911	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr4:37591911G>C	ENST00000284437.6	+	3	412	c.234G>C	c.(232-234)tgG>tgC	p.W78C	C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Missense_Mutation_p.W78C|RP11-36B15.1_ENST00000503034.1_RNA	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	78										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AGCCCTGCTGGCCTCACCAAG	0.627																																						ENST00000284437.6																			0				large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						c.(232-234)tgG>tgC		chromosome 4 open reading frame 19							53.0	58.0	56.0					4																	37591911		2203	4300	6503	SO:0001583	missense	55286							g.chr4:37591911G>C	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.234G>C	4.37:g.37591911G>C	ENSP00000284437:p.Trp78Cys					C4orf19_ENST00000381980.4_Missense_Mutation_p.W78C|C4orf19_ENST00000508175.1_Intron	p.W78C	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN			3	412	+			78					Q9NV03	Missense_Mutation	SNP	ENST00000284437.6	37	c.234G>C	CCDS3442.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821477	0.32237	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.32753	1.44;1.44	4.29	3.42	0.39159	.	0.974920	0.08400	N	0.951617	T	0.38054	0.1026	L	0.34521	1.04	0.09310	N	0.999996	D	0.69078	0.997	P	0.60473	0.875	T	0.17349	-1.0372	10	0.34782	T	0.22	1.0683	7.1644	0.25683	0.0922:0.1746:0.7332:0.0	.	78	Q8IY42	CD019_HUMAN	C	78	ENSP00000371408:W78C;ENSP00000284437:W78C	ENSP00000284437:W78C	W	+	3	0	C4orf19	37268306	0.084000	0.21492	0.008000	0.14137	0.027000	0.11550	0.968000	0.29357	0.975000	0.38392	0.655000	0.94253	TGG		0.627	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		6	27	6	27	---	---	---	---
EMCN	51705	broad.mit.edu	37	4	101344519	101344519	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr4:101344519G>C	ENST00000296420.4	-	6	636	c.458C>G	c.(457-459)aCa>aGa	p.T153R	EMCN_ENST00000511970.1_Missense_Mutation_p.T140R|EMCN_ENST00000305864.3_Intron	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	153						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		TGAGGTTAATGTACCAGTTTT	0.398																																						ENST00000296420.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13						c.(457-459)aCa>aGa		endomucin							220.0	204.0	210.0					4																	101344519		2203	4300	6503	SO:0001583	missense	51705					extracellular region|integral to membrane|plasma membrane		g.chr4:101344519G>C	AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"""Mucins"""	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.458C>G	4.37:g.101344519G>C	ENSP00000296420:p.Thr153Arg					EMCN_ENST00000305864.3_Intron|EMCN_ENST00000511970.1_Missense_Mutation_p.T140R	p.T153R	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)	6	636	-			153					A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Missense_Mutation	SNP	ENST00000296420.4	37	c.458C>G	CCDS3655.1	.	.	.	.	.	.	.	.	.	.	G	8.097	0.775903	0.16051	.	.	ENSG00000164035	ENST00000296420;ENST00000511970	.	.	.	3.52	-4.74	0.03249	.	1.895830	0.03042	N	0.153498	T	0.19525	0.0469	N	0.19112	0.55	0.09310	N	1	P;P	0.46952	0.887;0.887	B;B	0.42738	0.396;0.396	T	0.20638	-1.0269	9	0.59425	D	0.04	4.2992	4.3433	0.11120	0.5182:0.0:0.205:0.2768	.	140;153	B4E347;Q9ULC0	.;MUCEN_HUMAN	R	153;140	.	ENSP00000296420:T153R	T	-	2	0	EMCN	101563542	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.381000	0.02549	-1.315000	0.02297	0.484000	0.47621	ACA		0.398	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253699.2	NM_016242		5	41	5	41	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126411435	126411435	+	Silent	SNP	G	G	C			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr4:126411435G>C	ENST00000394329.3	+	17	13471	c.13458G>C	c.(13456-13458)ggG>ggC	p.G4486G	FAT4_ENST00000335110.5_Silent_p.G2727G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4486					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G4429G(1)|p.G4486G(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCCTGCGGGGCATGTCTGTG	0.622																																						ENST00000394329.3																			2	Substitution - coding silent(2)	p.G4429G(1)|p.G4486G(1)	lung(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(13456-13458)ggG>ggC		FAT atypical cadherin 4							88.0	86.0	87.0					4																	126411435		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411435G>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13458G>C	4.37:g.126411435G>C						FAT4_ENST00000335110.5_Silent_p.G2727G	p.G4486G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	13471	+			4486					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.13458G>C	CCDS3732.3																																																																																				0.622	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		7	43	7	43	---	---	---	---
SLC30A8	169026	broad.mit.edu	37	8	118169934	118169934	+	Silent	SNP	C	C	T			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr8:118169934C>T	ENST00000456015.2	+	4	423	c.423C>T	c.(421-423)atC>atT	p.I141I	SLC30A8_ENST00000427715.2_Silent_p.I92I|SLC30A8_ENST00000521243.1_Silent_p.I92I|SLC30A8_ENST00000519688.1_Silent_p.I92I	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	141					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCCTAGAGATCCTTGGTGCCC	0.527																																					Ovarian(162;1202 1922 6011 16223 52092)	ENST00000427715.2																			0				breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(274-276)atC>atT		solute carrier family 30 (zinc transporter), member 8							309.0	287.0	295.0					8																	118169934		2203	4300	6503	SO:0001819	synonymous_variant	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118169934C>T		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.423C>T	8.37:g.118169934C>T						SLC30A8_ENST00000521243.1_Silent_p.I92I|SLC30A8_ENST00000456015.2_Silent_p.I141I|SLC30A8_ENST00000519688.1_Silent_p.I92I	p.I92I	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		7	710	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		141					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Silent	SNP	ENST00000456015.2	37	c.276C>T	CCDS6322.1																																																																																				0.527	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		13	103	13	103	---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55872975	55872975	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr11:55872975T>C	ENST00000313503.1	+	1	457	c.457T>C	c.(457-459)Ttt>Ctt	p.F153L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F153L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGTGATTGGCTTTATAGACTC	0.443										HNSCC(53;0.14)																												ENST00000313503.1																			1	Substitution - Missense(1)	p.F153L(1)	lung(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(457-459)Ttt>Ctt		olfactory receptor, family 8, subfamily H, member 2							219.0	196.0	203.0					11																	55872975		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872975T>C	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.457T>C	11.37:g.55872975T>C	ENSP00000323982:p.Phe153Leu	HNSCC(53;0.14)					p.F153L	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	457	+	Esophageal squamous(21;0.00693)		153					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.457T>C	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	t	8.864	0.947549	0.18356	.	.	ENSG00000181767	ENST00000313503	T	0.00039	8.85	3.58	1.07	0.20283	GPCR, rhodopsin-like superfamily (1);	0.647404	0.14525	N	0.314244	T	0.00073	0.0002	N	0.16656	0.425	0.09310	N	1	B	0.17038	0.02	B	0.20384	0.029	T	0.17930	-1.0353	10	0.30854	T	0.27	.	1.0023	0.01479	0.154:0.2147:0.1575:0.4737	.	153	Q8N162	OR8H2_HUMAN	L	153	ENSP00000323982:F153L	ENSP00000323982:F153L	F	+	1	0	OR8H2	55629551	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	-0.946000	0.03905	0.081000	0.16988	0.362000	0.22060	TTT		0.443	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		14	97	14	97	---	---	---	---
OR5M1	390168	broad.mit.edu	37	11	56380683	56380683	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr11:56380683G>A	ENST00000526538.1	-	1	295	c.296C>T	c.(295-297)aCa>aTa	p.T99I		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AAGACACTGTGTGAAGCATCC	0.443																																						ENST00000526538.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(295-297)aCa>aTa		olfactory receptor, family 5, subfamily M, member 1							161.0	148.0	152.0					11																	56380683		1957	4157	6114	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380683G>A	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.296C>T	11.37:g.56380683G>A	ENSP00000435416:p.Thr99Ile						p.T99I	NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN			1	295	-			99					Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.296C>T	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	G	0.323	-0.960634	0.02249	.	.	ENSG00000255012	ENST00000526538	T	0.08807	3.05	3.71	0.182	0.15077	GPCR, rhodopsin-like superfamily (1);	0.174789	0.27406	N	0.019511	T	0.03739	0.0106	N	0.10837	0.055	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44667	-0.9313	10	0.20519	T	0.43	-10.6668	8.4656	0.32953	0.3587:0.0:0.6413:0.0	.	99	Q8NGP8	OR5M1_HUMAN	I	99	ENSP00000435416:T99I	ENSP00000435416:T99I	T	-	2	0	OR5M1	56137259	0.000000	0.05858	0.696000	0.30242	0.345000	0.29048	-0.032000	0.12266	0.214000	0.20742	0.280000	0.19369	ACA		0.443	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		4	42	4	42	---	---	---	---
RPH3A	22895	broad.mit.edu	37	12	113307699	113307699	+	Splice_Site	SNP	C	C	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr12:113307699C>A	ENST00000389385.4	+	10	1148	c.651C>A	c.(649-651)ggC>ggA	p.G217G	RPH3A_ENST00000543106.2_Splice_Site_p.G217G|RPH3A_ENST00000551052.1_Splice_Site_p.G213G|RPH3A_ENST00000415485.3_Splice_Site_p.G217G|RPH3A_ENST00000548866.1_Splice_Site_p.G168G|RPH3A_ENST00000447659.2_Splice_Site_p.G168G|RPH3A_ENST00000420983.2_Splice_Site_p.G217G|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	217	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TCTTTCCAGGCCCTGACCCAG	0.547																																						ENST00000389385.4																			0				breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.(649-651)ggC>ggA		rabphilin 3A homolog (mouse)							117.0	114.0	115.0					12																	113307699		2203	4300	6503	SO:0001630	splice_region_variant	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113307699C>A	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.650-1C>A	12.37:g.113307699C>A						RPH3A_ENST00000551052.1_Splice_Site_p.G213G|RPH3A_ENST00000415485.3_Splice_Site_p.G217G|RPH3A_ENST00000548866.1_Splice_Site_p.G168G|RPH3A_ENST00000420983.2_Splice_Site_p.G217G|RPH3A_ENST00000447659.2_Splice_Site_p.G168G|RPH3A_ENST00000543106.2_Splice_Site_p.G217G|RPH3A_ENST00000549913.2_3'UTR	p.G217G	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	10	1148	+			217			Pro-rich.		B7Z3C3|Q96AE0	Splice_Site	SNP	ENST00000389385.4	37	c.651C>A	CCDS44979.1																																																																																				0.547	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954	Silent	7	38	7	38	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20974749	20974749	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr16:20974749G>A	ENST00000261383.3	-	53	10456	c.10457C>T	c.(10456-10458)cCa>cTa	p.P3486L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3486					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCGGACCGCTGGCACCATTTT	0.532																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(10456-10458)cCa>cTa		dynein, axonemal, heavy chain 3							92.0	81.0	84.0					16																	20974749		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20974749G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10457C>T	16.37:g.20974749G>A	ENSP00000261383:p.Pro3486Leu					DNAH3_ENST00000415178.1_3'UTR	p.P3486L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	10456	-			3486					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10457C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591522	0.66219	.	.	ENSG00000158486	ENST00000261383	T	0.06849	3.25	5.52	5.52	0.82312	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.04961	-1.0915	10	0.11485	T	0.65	.	19.4388	0.94809	0.0:0.0:1.0:0.0	.	3486	Q8TD57	DYH3_HUMAN	L	3486	ENSP00000261383:P3486L	ENSP00000261383:P3486L	P	-	2	0	DNAH3	20882250	1.000000	0.71417	0.928000	0.36995	0.074000	0.17049	6.740000	0.74832	2.590000	0.87494	0.655000	0.94253	CCA		0.532	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		3	31	3	31	---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31393167	31393167	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr16:31393167C>A	ENST00000268296.4	+	30	3552	c.3431C>A	c.(3430-3432)gCa>gAa	p.A1144E	ITGAX_ENST00000562522.1_Missense_Mutation_p.A1144E	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1144					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ATGGAGGAGGCAAATGGACAA	0.527																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(3430-3432)gCa>gAa		integrin, alpha X (complement component 3 receptor 4 subunit)							154.0	159.0	157.0					16																	31393167		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31393167C>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.3431C>A	16.37:g.31393167C>A	ENSP00000268296:p.Ala1144Glu					ITGAX_ENST00000562522.1_Missense_Mutation_p.A1144E	p.A1144E	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			30	3552	+			1144					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.3431C>A	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653041	0.47362	.	.	ENSG00000140678	ENST00000268296	T	0.57907	0.37	5.02	0.269	0.15631	.	.	.	.	.	T	0.37652	0.1011	L	0.31804	0.96	0.09310	N	0.999991	P;B	0.45126	0.851;0.409	B;B	0.40165	0.321;0.168	T	0.18808	-1.0325	9	0.25106	T	0.35	.	11.4553	0.50179	0.6369:0.3631:0.0:0.0	.	1144;329	P20702;Q8TES5	ITAX_HUMAN;.	E	1144	ENSP00000268296:A1144E	ENSP00000268296:A1144E	A	+	2	0	ITGAX	31300668	0.002000	0.14202	0.650000	0.29550	0.341000	0.28922	0.047000	0.14056	0.313000	0.23062	0.591000	0.81541	GCA		0.527	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		4	56	4	56	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9059816	9059816	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr19:9059816T>C	ENST00000397910.4	-	3	27833	c.27630A>G	c.(27628-27630)atA>atG	p.I9210M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9212	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)				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						TGATGGCCAGTATTTCAGCTG	0.488																																						ENST00000397910.4																			0				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.(27628-27630)atA>atG		mucin 16, cell surface associated							125.0	118.0	121.0					19																	9059816		1973	4160	6133	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059816T>C	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.27630A>G	19.37:g.9059816T>C	ENSP00000381008:p.Ile9210Met						p.I9210M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	27833	-			9212			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.27630A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	0.254	-1.004128	0.02112	.	.	ENSG00000181143	ENST00000397910	T	0.27256	1.68	2.29	-4.57	0.03421	.	.	.	.	.	T	0.14527	0.0351	N	0.24115	0.695	.	.	.	P	0.43885	0.82	B	0.43950	0.437	T	0.09596	-1.0667	8	0.87932	D	0	.	0.4766	0.00541	0.3399:0.223:0.2598:0.1773	.	9210	B5ME49	.	M	9210	ENSP00000381008:I9210M	ENSP00000381008:I9210M	I	-	3	3	MUC16	8920816	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.758000	0.01810	-3.199000	0.00217	-0.682000	0.03756	ATA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	42	3	42	---	---	---	---
SWSAP1	126074	broad.mit.edu	37	19	11486247	11486247	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr19:11486247C>A	ENST00000312423.2	+	2	304	c.245C>A	c.(244-246)gCc>gAc	p.A82D	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	82					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)										CTGTGCTCTGCCCATGAGGCC	0.612																																						ENST00000312423.2																			0											c.(244-246)gCc>gAc		SWIM-type zinc finger 7 associated protein 1							89.0	106.0	101.0					19																	11486247		2203	4300	6503	SO:0001583	missense	126074							g.chr19:11486247C>A	AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"""zinc finger, SWIM-type containing 7 associated protein 1"", ""SWS1-associated protein 1"""	614536	"""chromosome 19 open reading frame 39"""	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.245C>A	19.37:g.11486247C>A	ENSP00000310008:p.Ala82Asp						p.A82D	NM_175871.3	NP_787067.2	Q6NVH7	CS039_HUMAN			2	304	+			82					Q8NAM1	Missense_Mutation	SNP	ENST00000312423.2	37	c.245C>A	CCDS12259.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230514	0.79688	.	.	ENSG00000173928	ENST00000312423	T	0.79033	-1.23	5.17	4.08	0.47627	.	0.277618	0.30060	N	0.010507	D	0.82751	0.5105	M	0.65975	2.015	0.30877	N	0.731801	D	0.76494	0.999	D	0.72338	0.977	T	0.80708	-0.1262	10	0.72032	D	0.01	-18.7388	4.1949	0.10438	0.0:0.6105:0.2413:0.1482	.	82	Q6NVH7	CS039_HUMAN	D	82	ENSP00000310008:A82D	ENSP00000310008:A82D	A	+	2	0	C19orf39	11347247	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.120000	0.41968	2.419000	0.82065	0.655000	0.94253	GCC		0.612	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458789.1	NM_175871		4	108	4	108	---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54314477	54314477	+	Missense_Mutation	SNP	G	G	A	rs200736514	byFrequency	TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr19:54314477G>A	ENST00000324134.6	-	3	604	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	NLRP12_ENST00000391772.1_Missense_Mutation_p.R146C|NLRP12_ENST00000391773.1_Missense_Mutation_p.R146C|NLRP12_ENST00000535162.1_Missense_Mutation_p.R146C|NLRP12_ENST00000391775.3_Missense_Mutation_p.R146C|NLRP12_ENST00000351894.4_Missense_Mutation_p.R146C|NLRP12_ENST00000354278.3_Missense_Mutation_p.R146C|NLRP12_ENST00000345770.5_Missense_Mutation_p.R146C	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	146					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCCCTAGGCGCGCATTGCGG	0.572																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(436-438)Cgc>Tgc		NLR family, pyrin domain containing 12							91.0	88.0	89.0					19																	54314477		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314477G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.436C>T	19.37:g.54314477G>A	ENSP00000319377:p.Arg146Cys					NLRP12_ENST00000354278.3_Missense_Mutation_p.R146C|NLRP12_ENST00000345770.5_Missense_Mutation_p.R146C|NLRP12_ENST00000391773.1_Missense_Mutation_p.R146C|NLRP12_ENST00000391775.3_Missense_Mutation_p.R146C|NLRP12_ENST00000351894.4_Missense_Mutation_p.R146C|NLRP12_ENST00000535162.1_Missense_Mutation_p.R146C|NLRP12_ENST00000391772.1_Missense_Mutation_p.R146C	p.R146C	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	604	-	Ovarian(34;0.19)		146					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.436C>T	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168238	0.38315	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	4.47	4.47	0.54385	.	0.000000	0.42294	D	0.000728	D	0.92893	0.7739	M	0.68317	2.08	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.68621	0.925;0.926;0.959;0.945	D	0.92711	0.6183	10	0.45353	T	0.12	.	15.0639	0.71977	0.0:0.0:1.0:0.0	.	146;146;146;146	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	C	146	ENSP00000319377:R146C;ENSP00000438030:R146C;ENSP00000340473:R146C;ENSP00000346231:R146C;ENSP00000375655:R146C;ENSP00000375653:R146C;ENSP00000375652:R146C	ENSP00000319377:R146C	R	-	1	0	NLRP12	59006289	0.003000	0.15002	0.713000	0.30519	0.981000	0.71138	0.672000	0.25187	2.228000	0.72767	0.306000	0.20318	CGC		0.572	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		13	77	13	77	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18020457	18020457	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr22:18020457A>G	ENST00000400585.2	+	14	1801	c.1363A>G	c.(1363-1365)Aca>Gca	p.T455A	CECR2_ENST00000400573.5_Missense_Mutation_p.T596A|CECR2_ENST00000262608.8_Missense_Mutation_p.T597A			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	638	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TTGTGGTGGGACACCCAGCCA	0.537																																						ENST00000400573.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(1786-1788)Aca>Gca		cat eye syndrome chromosome region, candidate 2							59.0	63.0	62.0					22																	18020457		1908	4129	6037	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18020457A>G	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1363A>G	22.37:g.18020457A>G	ENSP00000383428:p.Thr455Ala					CECR2_ENST00000262608.8_Missense_Mutation_p.T597A|CECR2_ENST00000400585.2_Missense_Mutation_p.T455A	p.T596A			Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	14	1793	+		all_epithelial(15;0.139)						A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.1786A>G		.	.	.	.	.	.	.	.	.	.	A	8.526	0.869981	0.17322	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.24538	1.99;1.98;1.85	5.74	1.24	0.21308	.	0.887861	0.09642	N	0.774865	T	0.14056	0.0340	N	0.14661	0.345	0.20307	N	0.999912	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36841	-0.9731	10	0.19147	T	0.46	0.0801	8.8703	0.35311	0.6995:0.0:0.3005:0.0	.	638;455;596	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	A	455;596;597	ENSP00000383428:T455A;ENSP00000383417:T596A;ENSP00000262608:T597A	ENSP00000262608:T597A	T	+	1	0	CECR2	16400457	0.978000	0.34361	0.032000	0.17829	0.060000	0.15804	1.174000	0.31932	-0.078000	0.12730	0.402000	0.26972	ACA		0.537	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		4	36	4	36	---	---	---	---
