#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
KMT2D	8085	broad.mit.edu	37	12	49445334	49445334	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr12:49445334G>A	ENST00000301067.7	-	10	2131	c.2132C>T	c.(2131-2133)cCg>cTg	p.P711L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	711	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CGAGTCCTCCGGTGGTGGGGA	0.672																																						ENST00000301067.7																			0											c.(2131-2133)cCg>cTg		lysine (K)-specific methyltransferase 2D							45.0	52.0	50.0					12																	49445334		2043	4193	6236	SO:0001583	missense	8085							g.chr12:49445334G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2132C>T	12.37:g.49445334G>A	ENSP00000301067:p.Pro711Leu						p.P711L	NM_003482.3	NP_003473.3					10	2131	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.2132C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017972	0.35606	.	.	ENSG00000167548	ENST00000301067	T	0.80994	-1.44	4.28	3.35	0.38373	.	.	.	.	.	T	0.61248	0.2332	N	0.14661	0.345	0.19945	N	0.999949	P	0.47545	0.897	B	0.35971	0.215	T	0.55592	-0.8117	9	0.87932	D	0	.	7.255	0.26171	0.0:0.1885:0.6171:0.1944	.	711	O14686	MLL2_HUMAN	L	711	ENSP00000301067:P711L	ENSP00000301067:P711L	P	-	2	0	MLL2	47731601	0.960000	0.32886	0.021000	0.16686	0.016000	0.09150	2.252000	0.43196	1.119000	0.41883	0.313000	0.20887	CCG		0.672	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			16	81	0	0	0	1	0	16	81				
DOCK7	85440	broad.mit.edu	37	1	63044512	63044512	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr1:63044512G>A	ENST00000340370.5	-	17	2014	c.1997C>T	c.(1996-1998)cCa>cTa	p.P666L	DOCK7_ENST00000251157.5_Missense_Mutation_p.P666L	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	666	DHR-1.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATATCCAACTGGTGTTTCAAG	0.313																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(1996-1998)cCa>cTa		dedicator of cytokinesis 7							96.0	97.0	97.0					1																	63044512		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63044512G>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1997C>T	1.37:g.63044512G>A	ENSP00000340742:p.Pro666Leu					DOCK7_ENST00000340370.5_Missense_Mutation_p.P666L	p.P666L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			17	2030	-			666			DHR-1.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.1997C>T	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	9.568	1.120367	0.20877	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.14766	2.48;2.48	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.13372	0.0324	N	0.16567	0.415	0.80722	D	1	D;D;D;B	0.89917	0.999;0.968;1.0;0.006	D;D;D;B	0.91635	0.99;0.936;0.999;0.02	T	0.18335	-1.0340	10	0.11794	T	0.64	.	19.6873	0.95984	0.0:0.0:1.0:0.0	.	666;666;666;666	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.	L	666	ENSP00000251157:P666L;ENSP00000340742:P666L	ENSP00000251157:P666L	P	-	2	0	DOCK7	62817100	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.657000	0.98554	2.890000	0.99128	0.585000	0.79938	CCA		0.313	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		5	29	0	0	0	1	0	5	29				
PLCH1	23007	broad.mit.edu	37	3	155311968	155311968	+	Missense_Mutation	SNP	T	T	A			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr3:155311968T>A	ENST00000340059.7	-	3	195	c.196A>T	c.(196-198)Att>Ttt	p.I66F	PLCH1_ENST00000447496.2_Missense_Mutation_p.I66F|PLCH1_ENST00000494598.1_Missense_Mutation_p.I66F|PLCH1_ENST00000414191.1_Missense_Mutation_p.I48F|PLCH1_ENST00000460012.1_Missense_Mutation_p.I48F|PLCH1_ENST00000334686.6_Missense_Mutation_p.I48F	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	66	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATGGAATCAATAAGTACTGTG	0.403																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(142-144)Att>Ttt		phospholipase C, eta 1							49.0	51.0	50.0					3																	155311968		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155311968T>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.196A>T	3.37:g.155311968T>A	ENSP00000345988:p.Ile66Phe					PLCH1_ENST00000447496.2_Missense_Mutation_p.I66F|PLCH1_ENST00000414191.1_Missense_Mutation_p.I48F|PLCH1_ENST00000334686.6_Missense_Mutation_p.I48F|PLCH1_ENST00000340059.7_Missense_Mutation_p.I66F|PLCH1_ENST00000494598.1_Missense_Mutation_p.I66F	p.I48F			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		4	499	-			66			PH.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.142A>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.913668	0.92178	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	6.07	6.07	0.98685	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.84005	0.5377	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.991;0.994	D	0.86443	0.1768	10	0.87932	D	0	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	48;66;66	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	F	66;48;66;66;48;48	ENSP00000419100:I66F;ENSP00000417502:I48F;ENSP00000402759:I66F;ENSP00000345988:I66F;ENSP00000335469:I48F;ENSP00000412977:I48F	ENSP00000335469:I48F	I	-	1	0	PLCH1	156794662	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	7.930000	0.87610	2.326000	0.78906	0.533000	0.62120	ATT		0.403	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		18	32	0	0	0	1	0	18	32				
SLC22A6	9356	broad.mit.edu	37	11	62744805	62744805	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr11:62744805G>C	ENST00000377871.3	-	9	1682	c.1416C>G	c.(1414-1416)agC>agG	p.S472R	SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000360421.4_Missense_Mutation_p.S472R|SLC22A6_ENST00000421062.2_Intron|SLC22A6_ENST00000458333.2_Intron	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	472					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TCACCAGTGGGCTCACGATGC	0.622																																						ENST00000377871.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1414-1416)agC>agG		solute carrier family 22 (organic anion transporter), member 6							62.0	50.0	54.0					11																	62744805		2201	4298	6499	SO:0001583	missense	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62744805G>C	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1416C>G	11.37:g.62744805G>C	ENSP00000367102:p.Ser472Arg					SLC22A6_ENST00000421062.2_Intron|SLC22A6_ENST00000360421.4_Missense_Mutation_p.S472R|SLC22A6_ENST00000458333.2_Intron	p.S472R	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN			9	1682	-			472					A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	c.1416C>G	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633402	0.67015	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871	T;T	0.74106	-0.81;-0.81	4.76	4.76	0.60689	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.161504	0.56097	D	0.000039	D	0.86573	0.5965	M	0.89904	3.07	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76575	0.988;0.979	D	0.87998	0.2754	10	0.87932	D	0	.	8.8027	0.34918	0.1001:0.0:0.8999:0.0	.	472;472	Q4U2R8;Q4U2R8-2	S22A6_HUMAN;.	R	472;451;472	ENSP00000353597:S472R;ENSP00000367102:S472R	ENSP00000353597:S472R	S	-	3	2	SLC22A6	62501381	0.720000	0.27996	1.000000	0.80357	0.975000	0.68041	-0.187000	0.09656	2.440000	0.82611	0.561000	0.74099	AGC		0.622	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		7	36	0	0	0	1	0	7	36				
BTN3A3	10384	broad.mit.edu	37	6	26452015	26452015	+	Missense_Mutation	SNP	A	A	T			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr6:26452015A>T	ENST00000244519.2	+	11	1374	c.1131A>T	c.(1129-1131)agA>agT	p.R377S	BTN3A3_ENST00000339789.4_Missense_Mutation_p.R335S|BTN3A3_ENST00000361232.3_Missense_Mutation_p.R328S	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	377	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						ACCCTGAGAGATTTGAATGGC	0.537																																						ENST00000244519.2																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1129-1131)agA>agT		butyrophilin, subfamily 3, member A3							101.0	107.0	105.0					6																	26452015		2203	4300	6503	SO:0001583	missense	10384					integral to membrane		g.chr6:26452015A>T	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1131A>T	6.37:g.26452015A>T	ENSP00000244519:p.Arg377Ser					BTN3A3_ENST00000361232.3_Missense_Mutation_p.R328S|BTN3A3_ENST00000339789.4_Missense_Mutation_p.R335S	p.R377S	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN			11	1374	+			377			B30.2/SPRY.		B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.1131A>T	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.034928	0.54896	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232;ENST00000490254	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	2.95	0.345	0.16011	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.61223	0.2330	M	0.81802	2.56	0.32865	D	0.508517	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.57791	-0.7750	9	0.66056	D	0.02	.	6.1517	0.20316	0.7476:0.0:0.2524:0.0	.	328;377	E9PCP5;O00478	.;BT3A3_HUMAN	S	377;335;328;167	ENSP00000244519:R377S;ENSP00000344968:R335S;ENSP00000355238:R328S;ENSP00000419736:R167S	ENSP00000244519:R377S	R	+	3	2	BTN3A3	26559994	0.594000	0.26849	0.034000	0.17996	0.119000	0.20118	-0.073000	0.11468	-0.052000	0.13311	0.374000	0.22700	AGA		0.537	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		12	55	0	0	0	1	0	12	55				
VTRNA2-1	100126299	broad.mit.edu	37	5	135416184	135416184	+	lincRNA	SNP	A	A	G			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr5:135416184A>G	ENST00000602301.1	-	0	102					NR_030583.2				vault RNA 2-1																		AATTTATTGCATAAAAGGGTC	0.433																																						ENST00000602301.1																			0																				57.0	53.0	54.0					5																	135416184		1568	3582	5150			0							g.chr5:135416184A>G			5q31.1	2013-05-03	2011-04-11	2011-04-11	ENSG00000202030	ENSG00000270123		"""Vault RNAs (vtRNAs)"""	37054	non-coding RNA	RNA, vault		614938	"""microRNA 886"", ""vault RNA 2"""	MIR886, MIRN886, VTRNA2		19298825, 19491402, 22926522, 22058117	Standard	NR_030583		Approved	vtRNA2, hvg-5, CBL-3, hsa-mir-886, nc886	uc021ydy.1				5.37:g.135416184A>G								NR_030583.2						0	102	-									RNA	SNP	ENST00000602301.1	37																																																																																						0.433	VTRNA2-1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000467708.1	NR_030583		20	43	0	0	0	1	0	20	43				
MALAT1	378938	broad.mit.edu	37	11	65272954	65272954	+	lincRNA	SNP	C	C	T			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr11:65272954C>T	ENST00000534336.1	+	0	7722					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		AGGGGGAAAGCGGGCAACCAC	0.478																																						ENST00000534336.1																			0																				127.0	123.0	124.0					11																	65272954		874	1988	2862			0							g.chr11:65272954C>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65272954C>T								NR_002819.2						0	7722	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.478	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		14	69	0	0	0	1	0	14	69				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	59	0	0	0	1	0	4	59				
OR5D13	390142	broad.mit.edu	37	11	55541674	55541674	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr11:55541674A>G	ENST00000361760.1	+	1	761	c.761A>G	c.(760-762)cAt>cGt	p.H254R		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACTATCTTCCATGGAACTATC	0.443																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(760-762)cAt>cGt		olfactory receptor, family 5, subfamily D, member 13							128.0	106.0	114.0					11																	55541674		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541674A>G	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.761A>G	11.37:g.55541674A>G	ENSP00000354800:p.His254Arg						p.H254R	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	761	+		all_epithelial(135;0.196)	254					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.761A>G	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.883056	0.33255	.	.	ENSG00000198877	ENST00000361760	T	0.37235	1.21	3.82	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.235162	0.21682	U	0.070720	T	0.56046	0.1959	M	0.80028	2.48	0.18873	N	0.999985	D	0.58620	0.983	D	0.68943	0.961	T	0.41305	-0.9516	10	0.87932	D	0	-11.2799	8.4147	0.32664	0.7564:0.0:0.0:0.2436	.	254	Q8NGL4	OR5DD_HUMAN	R	254	ENSP00000354800:H254R	ENSP00000354800:H254R	H	+	2	0	OR5D13	55298250	0.000000	0.05858	0.811000	0.32455	0.322000	0.28314	1.365000	0.34182	1.535000	0.49220	0.398000	0.26397	CAT		0.443	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		22	50	0	0	0	1	0	22	50				
POU2AF1	5450	broad.mit.edu	37	11	111228203	111228203	+	Silent	SNP	G	G	A			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr11:111228203G>A	ENST00000393067.3	-	4	937	c.423C>T	c.(421-423)acC>acT	p.T141T		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	141			T -> A (in dbSNP:rs1042750).		humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GAGAGGCATAGGTCAACACTG	0.577			T	BCL6	NHL																																	ENST00000393067.3				Dom	yes		11	11q23.1	5450	T	"""POU domain, class 2, associating factor 1 (OBF1)"""			L	BCL6		NHL		0				breast(1)|kidney(2)|lung(2)	5						c.(421-423)acC>acT		POU class 2 associating factor 1							79.0	68.0	72.0					11																	111228203		2201	4297	6498	SO:0001819	synonymous_variant	5450				humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr11:111228203G>A		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"""POU domain class 2, associating factor 1"""			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.423C>T	11.37:g.111228203G>A							p.T141T	NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)	4	937	-		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)	141		T -> A (in dbSNP:rs1042750).			B2R8Z9|Q14983	Silent	SNP	ENST00000393067.3	37	c.423C>T	CCDS31675.1																																																																																				0.577	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235		11	49	0	0	0	1	0	11	49				
NPAP1	23742	broad.mit.edu	37	15	24921341	24921341	+	Silent	SNP	A	A	G			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr15:24921341A>G	ENST00000329468.2	+	1	801	c.327A>G	c.(325-327)ggA>ggG	p.G109G		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	109					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CGAGGTTTGGACACCCCAGTT	0.677																																						ENST00000329468.2																			0											c.(325-327)ggA>ggG		nuclear pore associated protein 1							49.0	40.0	43.0					15																	24921341		2201	4293	6494	SO:0001819	synonymous_variant	23742							g.chr15:24921341A>G	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.327A>G	15.37:g.24921341A>G							p.G109G	NM_018958.2	NP_061831.2					1	801	+									Silent	SNP	ENST00000329468.2	37	c.327A>G	CCDS10015.1																																																																																				0.677	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		9	56	0	0	0	1	0	9	56				
ARSK	153642	broad.mit.edu	37	5	94891099	94891099	+	Silent	SNP	C	C	T			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr5:94891099C>T	ENST00000380009.4	+	1	322	c.117C>T	c.(115-117)agC>agT	p.S39S	TTC37_ENST00000358746.2_5'Flank|ARSK_ENST00000504763.1_Silent_p.S39S	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	39					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TGGTCGTGAGCGACTCCTTCG	0.701																																						ENST00000380009.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(115-117)agC>agT		arylsulfatase family, member K							26.0	25.0	26.0					5																	94891099		2202	4299	6501	SO:0001819	synonymous_variant	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94891099C>T		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.117C>T	5.37:g.94891099C>T						ARSK_ENST00000504763.1_Silent_p.S39S	p.S39S	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	1	322	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	39					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Silent	SNP	ENST00000380009.4	37	c.117C>T	CCDS4073.1																																																																																				0.701	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		5	22	0	0	0	1	0	5	22				
LNPEP	4012	broad.mit.edu	37	5	96358148	96358148	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr5:96358148A>G	ENST00000231368.5	+	14	3213	c.2521A>G	c.(2521-2523)Aaa>Gaa	p.K841E	LNPEP_ENST00000395770.3_Missense_Mutation_p.K827E	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	841					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TACTGCCATGAAACTGTTTGA	0.443																																						ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(2521-2523)Aaa>Gaa		leucyl/cystinyl aminopeptidase							98.0	90.0	93.0					5																	96358148		2203	4300	6503	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96358148A>G	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2521A>G	5.37:g.96358148A>G	ENSP00000231368:p.Lys841Glu					LNPEP_ENST00000395770.3_Missense_Mutation_p.K827E	p.K841E	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	14	3213	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	841					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.2521A>G	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	A	0.283	-0.985167	0.02180	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.05258	3.47;3.47	6.07	3.7	0.42460	.	0.747137	0.14618	N	0.308584	T	0.02418	0.0074	N	0.04355	-0.22	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.45071	-0.9286	10	0.02654	T	1	.	6.859	0.24056	0.6362:0.2899:0.0739:0.0	.	841	Q9UIQ6	LCAP_HUMAN	E	841;827	ENSP00000231368:K841E;ENSP00000379117:K827E	ENSP00000231368:K841E	K	+	1	0	LNPEP	96383904	0.000000	0.05858	0.997000	0.53966	0.402000	0.30811	0.460000	0.21924	1.094000	0.41399	-0.316000	0.08728	AAA		0.443	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		12	22	0	0	0	1	0	12	22				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	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		4	50	0	0	0	1	0	4	50				
TTN	7273	broad.mit.edu	37	2	179399347	179399347	+	Missense_Mutation	SNP	A	A	T			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr2:179399347A>T	ENST00000591111.1	-	308	97296	c.97072T>A	c.(97072-97074)Tgg>Agg	p.W32358R	TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W25126R|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W25059R|TTN_ENST00000460472.2_Missense_Mutation_p.W24934R|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.W33999R|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W31431R|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588257.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32358	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			CCAAGTGACCACATGTCTGTG	0.453																																						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.(101995-101997)Tgg>Agg		titin							121.0	118.0	119.0					2																	179399347		2023	4198	6221	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399347A>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.97072T>A	2.37:g.179399347A>T	ENSP00000465570:p.Trp32358Arg					TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W25059R|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W24934R|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W25126R|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W32358R|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W31431R	p.W33999R	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)		358	102219	-			32358			Ig-like 150.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.101995T>A		.	.	.	.	.	.	.	.	.	.	A	15.97	2.988421	0.53934	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.87446	0.6179	H	0.98276	4.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.92115	0.5699	9	0.87932	D	0	.	15.5246	0.75894	1.0:0.0:0.0:0.0	.	24934;25059;25126;32358	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	31431;24934;25126;25059;24931	ENSP00000343764:W31431R;ENSP00000434586:W24934R;ENSP00000340554:W25126R;ENSP00000352154:W25059R	ENSP00000340554:W25126R	W	-	1	0	TTN	179107593	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.309000	0.96252	2.304000	0.77564	0.528000	0.53228	TGG		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	56	0	0	0	1	0	16	56				
HCFC1	3054	broad.mit.edu	37	X	153219825	153219825	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chrX:153219825G>A	ENST00000310441.7	-	17	4991	c.4025C>T	c.(4024-4026)aCg>aTg	p.T1342M	HCFC1_ENST00000354233.3_Missense_Mutation_p.T1273M|HCFC1_ENST00000369984.4_Missense_Mutation_p.T1342M	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1342					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTGGCCCGTGCCCCCGTT	0.687													G|||	1	0.000264901	0.0008	0.0	3775	,	,		11235	0.0		0.0	False		,,,				2504	0.0					ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(4024-4026)aCg>aTg		host cell factor C1 (VP16-accessory protein)							70.0	82.0	78.0					X																	153219825		2124	4193	6317	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153219825G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.4025C>T	X.37:g.153219825G>A	ENSP00000309555:p.Thr1342Met					HCFC1_ENST00000369984.4_Missense_Mutation_p.T1342M|HCFC1_ENST00000354233.3_Missense_Mutation_p.T1273M	p.T1342M	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			17	4991	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1342					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.4025C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	g	5.441	0.266477	0.10294	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03124	4.05;4.04;4.06	5.55	3.79	0.43588	.	0.588277	0.18908	N	0.127834	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	B	0.24675	0.109	B	0.19148	0.024	T	0.44050	-0.9353	10	0.62326	D	0.03	.	9.8184	0.40867	0.0795:0.1368:0.7838:0.0	.	1342	P51610	HCFC1_HUMAN	M	1342;1342;1273	ENSP00000309555:T1342M;ENSP00000359001:T1342M;ENSP00000346174:T1273M	ENSP00000309555:T1342M	T	-	2	0	HCFC1	152873019	0.043000	0.20138	0.001000	0.08648	0.011000	0.07611	2.271000	0.43364	0.522000	0.28464	-0.213000	0.12676	ACG		0.687	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		5	189	0	0	0	1	0	5	189				
ZC3H13	23091	broad.mit.edu	37	13	46549950	46549950	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr13:46549950G>A	ENST00000242848.4	-	12	2284	c.1936C>T	c.(1936-1938)Cga>Tga	p.R646*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R646*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	646	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R646*(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CCCTGATGTCGAATTGGTGAG	0.403																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			1	Substitution - Nonsense(1)	p.R646*(1)	large_intestine(1)	cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(1936-1938)Cga>Tga		zinc finger CCCH-type containing 13							175.0	127.0	143.0					13																	46549950		2203	4300	6503	SO:0001587	stop_gained	23091						nucleic acid binding|zinc ion binding	g.chr13:46549950G>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1936C>T	13.37:g.46549950G>A	ENSP00000242848:p.Arg646*					ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R646*	p.R646*			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	12	2284	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	646			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	ENST00000242848.4	37	c.1936C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.905630	0.98998	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	.	.	.	5.27	5.27	0.74061	.	0.000000	0.49916	D	0.000131	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1291	0.65240	0.0:0.0:0.8498:0.1502	.	.	.	.	X	646;646;462	.	ENSP00000242848:R646X	R	-	1	2	ZC3H13	45447951	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.093000	0.57714	2.607000	0.88179	0.557000	0.71058	CGA		0.403	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		12	27	0	0	0	1	0	12	27				
ZNF76	7629	broad.mit.edu	37	6	35255551	35255551	+	Missense_Mutation	SNP	G	G	T			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr6:35255551G>T	ENST00000373953.3	+	5	627	c.361G>T	c.(361-363)Gac>Tac	p.D121Y	ZNF76_ENST00000440666.2_Missense_Mutation_p.D95Y|ZNF76_ENST00000339411.5_Missense_Mutation_p.D121Y	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	121					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GGGCTTGGAGGACCTGGCAGC	0.607																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	ENST00000373953.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(361-363)Gac>Tac		zinc finger protein 76							110.0	96.0	101.0					6																	35255551		2203	4300	6503	SO:0001583	missense	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35255551G>T	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.361G>T	6.37:g.35255551G>T	ENSP00000363064:p.Asp121Tyr					ZNF76_ENST00000440666.2_Missense_Mutation_p.D95Y|ZNF76_ENST00000339411.5_Missense_Mutation_p.D121Y	p.D121Y	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN			5	627	+			121					Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	c.361G>T	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438693	0.43326	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.10477	2.87;2.87;2.93;2.88	5.17	5.17	0.71159	.	0.150771	0.30528	N	0.009430	T	0.16599	0.0399	L	0.39898	1.24	0.50171	D	0.999854	P;D;P;P	0.89917	0.739;1.0;0.946;0.524	P;D;P;B	0.65874	0.466;0.939;0.824;0.425	T	0.00704	-1.1602	10	0.54805	T	0.06	.	17.4142	0.87495	0.0:0.0:1.0:0.0	.	121;121;121;121	B7Z851;B7Z991;P36508-2;P36508	.;.;.;ZNF76_HUMAN	Y	121;121;121;121;95;121	ENSP00000419106:D121Y;ENSP00000363064:D121Y;ENSP00000392243:D95Y;ENSP00000344097:D121Y	ENSP00000229405:D121Y	D	+	1	0	ZNF76	35363529	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	7.208000	0.77907	2.684000	0.91462	0.655000	0.94253	GAC		0.607	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		7	25	1	0	0.00198382	1	0.00204581	7	25				
ALPK3	57538	broad.mit.edu	37	15	85383174	85383174	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr15:85383174C>T	ENST00000258888.5	+	5	1437	c.1270C>T	c.(1270-1272)Cag>Tag	p.Q424*		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	424					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGACCGCTTCCAGCGAAAGCG	0.692																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1270-1272)Cag>Tag		alpha-kinase 3							25.0	28.0	27.0					15																	85383174		2203	4299	6502	SO:0001587	stop_gained	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85383174C>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.1270C>T	15.37:g.85383174C>T	ENSP00000258888:p.Gln424*						p.Q424*	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	1437	+			424					Q9P2L6	Nonsense_Mutation	SNP	ENST00000258888.5	37	c.1270C>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	C	39	7.335001	0.98217	.	.	ENSG00000136383	ENST00000258888	.	.	.	4.95	4.95	0.65309	.	0.204155	0.40469	N	0.001082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-18.7845	15.683	0.77388	0.0:1.0:0.0:0.0	.	.	.	.	X	424	.	ENSP00000258888:Q424X	Q	+	1	0	ALPK3	83184178	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.630000	0.54273	2.273000	0.75805	0.563000	0.77884	CAG		0.692	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		6	25	0	0	0	1	0	6	25				
TPM3P9	147804	broad.mit.edu	37	19	53945837	53945837	+	RNA	SNP	T	T	C	rs17855120	byFrequency	TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr19:53945837T>C	ENST00000424846.3	+	0	834				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		GGACCAGACTTTGCTTGACCT	0.512													N|||	3618	0.722444	0.5348	0.8084	5008	,	,		13659	0.6012		0.8569	False		,,,				2504	0.9018					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53945837T>C			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53945837T>C						TPM3P9_ENST00000424846.3_RNA				Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	55	+									RNA	SNP	ENST00000424846.3	37																																																																																						0.512	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		4	32	0	0	0	1	0	4	32				
PDZD2	23037	broad.mit.edu	37	5	31983589	31983589	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr5:31983589G>A	ENST00000438447.1	+	3	1193	c.805G>A	c.(805-807)Ggc>Agc	p.G269S	PDZD2_ENST00000282493.3_Missense_Mutation_p.G269S			O15018	PDZD2_HUMAN	PDZ domain containing 2	269					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.G269S(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCTAGAAAATGGCCCAGATTC	0.557																																						ENST00000438447.1																			1	Substitution - Missense(1)	p.G269S(1)	lung(1)	NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(805-807)Ggc>Agc		PDZ domain containing 2							67.0	70.0	69.0					5																	31983589		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31983589G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.805G>A	5.37:g.31983589G>A	ENSP00000402033:p.Gly269Ser					PDZD2_ENST00000282493.3_Missense_Mutation_p.G269S	p.G269S			O15018	PDZD2_HUMAN			3	1193	+			269					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.805G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062379	0.55432	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06371	3.31;3.31	5.53	5.53	0.82687	.	0.000000	0.47852	D	0.000208	T	0.05273	0.0140	L	0.29908	0.895	0.42909	D	0.994258	B;P	0.41475	0.024;0.751	B;B	0.32677	0.007;0.15	T	0.50338	-0.8840	10	0.32370	T	0.25	.	14.9533	0.71091	0.0:0.0:1.0:0.0	.	95;269	B4E3P2;O15018	.;PDZD2_HUMAN	S	269	ENSP00000402033:G269S;ENSP00000282493:G269S	ENSP00000282493:G269S	G	+	1	0	PDZD2	32019346	1.000000	0.71417	0.999000	0.59377	0.488000	0.33401	2.503000	0.45407	2.597000	0.87782	0.460000	0.39030	GGC		0.557	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			21	56	0	0	0	1	0	21	56				
MTERF1	7978	broad.mit.edu	37	7	91503312	91503312	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr7:91503312T>C	ENST00000351870.3	-	3	889	c.796A>G	c.(796-798)Aac>Gac	p.N266D	MTERF_ENST00000481516.1_5'Flank|MTERF_ENST00000406735.2_Missense_Mutation_p.N246D|MTERF_ENST00000419292.1_Missense_Mutation_p.N246D	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		266					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TCCTCACTGTTCAAATTGAAA	0.383																																						ENST00000419292.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14						c.(736-738)Aac>Gac		mitochondrial transcription termination factor							48.0	49.0	48.0					7																	91503312		2203	4300	6503	SO:0001583	missense	7978				DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding	g.chr7:91503312T>C																												ENST00000351870.3:c.796A>G	7.37:g.91503312T>C	ENSP00000248643:p.Asn266Asp					CTB-104F4.2_ENST00000454222.1_RNA|MTERF_ENST00000351870.3_Missense_Mutation_p.N266D|MTERF_ENST00000406735.2_Missense_Mutation_p.N246D	p.N246D			Q99551	MTERF_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)		2	812	-	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		266					A4D1E3|Q32NF8|Q53H51|Q9BVR7	Missense_Mutation	SNP	ENST00000351870.3	37	c.736A>G	CCDS5621.1	.	.	.	.	.	.	.	.	.	.	T	9.825	1.186743	0.21870	.	.	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735	T;T;T	0.11821	2.74;2.74;2.74	4.94	1.3	0.21679	.	0.349882	0.27912	N	0.017354	T	0.06781	0.0173	N	0.16478	0.41	0.31784	N	0.630548	B	0.02656	0.0	B	0.06405	0.002	T	0.29579	-1.0007	10	0.17832	T	0.49	-0.4077	7.6884	0.28554	0.0:0.3231:0.0:0.6769	.	266	Q99551	MTERF_HUMAN	D	246;266;246	ENSP00000414116:N246D;ENSP00000248643:N266D;ENSP00000384986:N246D	ENSP00000248643:N266D	N	-	1	0	MTERF	91341248	0.956000	0.32656	0.488000	0.27440	0.893000	0.52053	1.614000	0.36911	0.408000	0.25621	0.477000	0.44152	AAC		0.383	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342896.1			5	39	0	0	0	1	0	5	39				
PIK3R5	23533	broad.mit.edu	37	17	8790952	8790952	+	Missense_Mutation	SNP	C	C	A			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr17:8790952C>A	ENST00000447110.1	-	11	1789	c.1665G>T	c.(1663-1665)caG>caT	p.Q555H	PIK3R5_ENST00000581552.1_Missense_Mutation_p.Q555H|PIK3R5_ENST00000584803.1_Missense_Mutation_p.Q555H	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	555					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CGTAGAAGAACTGAAGTTTGA	0.607																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1663-1665)caG>caT		phosphoinositide-3-kinase, regulatory subunit 5							55.0	45.0	48.0					17																	8790952		2202	4300	6502	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8790952C>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1665G>T	17.37:g.8790952C>A	ENSP00000392812:p.Gln555His					PIK3R5_ENST00000584803.1_Missense_Mutation_p.Q555H|PIK3R5_ENST00000581552.1_Missense_Mutation_p.Q555H	p.Q555H	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			11	1789	-			555					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.1665G>T	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844395	0.32606	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	D	0.83506	-1.73	4.94	2.92	0.33932	.	0.000000	0.85682	D	0.000000	T	0.69708	0.3141	L	0.34521	1.04	0.48135	D	0.999596	B	0.31837	0.342	B	0.30855	0.121	T	0.67503	-0.5654	10	0.56958	D	0.05	-29.9959	3.7934	0.08730	0.1325:0.5819:0.1291:0.1565	.	555	Q8WYR1	PI3R5_HUMAN	H	555	ENSP00000392812:Q555H	ENSP00000269300:Q555H	Q	-	3	2	PIK3R5	8731677	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.982000	0.29539	1.310000	0.45006	0.655000	0.94253	CAG		0.607	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		3	11	1	0	0.115264	1	0.115264	3	11				
ZNF763	284390	broad.mit.edu	37	19	12087920	12087920	+	Missense_Mutation	SNP	C	C	T	rs201480354		TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr19:12087920C>T	ENST00000358987.3	+	2	198	c.71C>T	c.(70-72)tCg>tTg	p.S24L	ZNF763_ENST00000343949.5_Missense_Mutation_p.S27L|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000538752.1_Missense_Mutation_p.S44L|ZNF763_ENST00000592625.1_Missense_Mutation_p.S24L|ZNF763_ENST00000590798.1_Missense_Mutation_p.S44L|ZNF763_ENST00000591944.1_Missense_Mutation_p.S93L			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	24	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S26L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						CTGGATATTTCGCAGAGGAAA	0.493																																						ENST00000343949.5																			1	Substitution - Missense(1)	p.S26L(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.(79-81)tCg>tTg		zinc finger protein 763		C	LEU/SER	0,4406		0,0,2203	149.0	151.0	150.0		80	-1.7	0.0	19		150	2,8598	2.2+/-6.3	0,2,4298	no	missense	ZNF763	NM_001012753.1	145	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		27/398	12087920	2,13004	2203	4300	6503	SO:0001583	missense	284390							g.chr19:12087920C>T	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.71C>T	19.37:g.12087920C>T	ENSP00000402017:p.Ser24Leu					ZNF763_ENST00000538752.1_Missense_Mutation_p.S44L|ZNF763_ENST00000592625.1_Missense_Mutation_p.S24L|ZNF763_ENST00000358987.3_Missense_Mutation_p.S24L|ZNF763_ENST00000591944.1_Missense_Mutation_p.S93L|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000590798.1_Missense_Mutation_p.S44L	p.S27L	NM_001012753.1	NP_001012771.1					2	235	+								B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37	c.80C>T		.	.	.	.	.	.	.	.	.	.	c	9.730	1.162007	0.21538	0.0	2.33E-4	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000358987	T;T;T	0.01838	4.61;4.61;4.61	0.864	-1.73	0.08081	Krueppel-associated box (4);	.	.	.	.	T	0.04815	0.0130	M	0.90082	3.085	0.09310	N	1	P;P;B	0.38767	0.593;0.646;0.331	B;B;B	0.35655	0.131;0.207;0.019	T	0.03221	-1.1059	9	0.59425	D	0.04	.	6.6454	0.22933	0.0:0.5087:0.0:0.4913	.	44;24;27	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	L	44;27;24	ENSP00000438117:S44L;ENSP00000369774:S27L;ENSP00000402017:S24L	ENSP00000369774:S27L	S	+	2	0	ZNF763	11948920	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.467000	0.06664	-1.501000	0.01817	-1.076000	0.02234	TCG		0.493	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		45	91	0	0	0	1	0	45	91				
C1orf53	388722	broad.mit.edu	37	1	197871974	197871974	+	Silent	SNP	G	G	A			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr1:197871974G>A	ENST00000367393.3	+	1	198	c.195G>A	c.(193-195)agG>agA	p.R65R		NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN	chromosome 1 open reading frame 53	65										endometrium(1)|lung(1)	2						GAGCGGCGAGGCCTTCGGTGA	0.711																																						ENST00000367393.3																			0				endometrium(1)|lung(1)	2						c.(193-195)agG>agA		chromosome 1 open reading frame 53							11.0	13.0	12.0					1																	197871974		1904	4103	6007	SO:0001819	synonymous_variant	388722							g.chr1:197871974G>A	BC038214	CCDS44290.1	1q31.3	2011-01-26			ENSG00000203724	ENSG00000203724			30003	protein-coding gene	gene with protein product						15897902	Standard	NM_001024594		Approved		uc001guh.3	Q5VUE5	OTTHUMG00000035659	ENST00000367393.3:c.195G>A	1.37:g.197871974G>A							p.R65R	NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN			1	198	+			65					A1L4N2|Q5VUE4	Silent	SNP	ENST00000367393.3	37	c.195G>A	CCDS44290.1	.	.	.	.	.	.	.	.	.	.	G	8.636	0.894823	0.17613	.	.	ENSG00000203724	ENST00000436652	.	.	.	2.78	1.85	0.25348	.	.	.	.	.	T	0.26122	0.0637	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	T	0.20672	-1.0268	4	.	.	.	-12.2199	5.6004	0.17351	0.1585:0.0:0.8415:0.0	.	.	.	.	T	23	.	.	A	+	1	0	C1orf53	196138597	0.000000	0.05858	0.003000	0.11579	0.073000	0.16967	0.432000	0.21461	0.722000	0.32252	0.313000	0.20887	GCC		0.711	C1orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086555.1	NM_001024594		6	9	0	0	0	1	0	6	9				
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	CTG	-	rs193031527		TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr1:226034840_226034842delCTG	ENST00000366835.3	-	24	2593_2595	c.2323_2325delCAG	c.(2323-2325)cagdel	p.Q775del	RP11-285F7.2_ENST00000424332.1_RNA	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	775					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)	p.Q775delQ(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626																																						ENST00000366835.3																			1	Deletion - In frame(1)	p.Q775delQ(1)	breast(1)	breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(2323-2325)del		transmembrane protein 63A																																				SO:0001651	inframe_deletion	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226034840_226034842delCTG		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.2323_2325delCAG	1.37:g.226034849_226034851delCTG	ENSP00000355800:p.Gln775del						p.Q775del	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			24	2593_2595	-	Breast(184;0.197)		775					Q53GI7|Q5TE96|Q8N2U2	In_Frame_Del	DEL	ENST00000366835.3	37	c.2323_2325delCAG	CCDS31042.1																																																																																				0.626	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		9	145						9	145	---	---	---	---
SLC35G2	80723	broad.mit.edu	37	3	136574141	136574143	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr3:136574141_136574143delAGA	ENST00000446465.2	+	2	1467_1469	c.839_841delAGA	c.(838-843)gagaag>gag	p.K281del	RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_In_Frame_Del_p.K281del	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		TCCATCAAGGAGAAGATCAGCAT	0.424																																						ENST00000446465.2																			0											c.(838-843)gag>g		solute carrier family 35, member G2																																				SO:0001651	inframe_deletion	80723					Golgi apparatus|integral to membrane		g.chr3:136574141_136574143delAGA	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.839_841delAGA	3.37:g.136574144_136574146delAGA	ENSP00000400839:p.Lys281del					SLC35G2_ENST00000393079.3_In_Frame_Del_p.EK280del|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA	p.EK280del	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN			2	1467_1469	+			280			DUF6 2.			In_Frame_Del	DEL	ENST00000446465.2	37	c.839_841delAGA	CCDS3091.1																																																																																				0.424	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		30	118						30	118	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69666603	69666603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr6:69666603delA	ENST00000370598.1	+	8	2248	c.1427delA	c.(1426-1428)gaafs	p.E476fs		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	476	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGCGGCTGGGAAAGGCGAATA	0.502																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(1426-1428)gafs		brain-specific angiogenesis inhibitor 3							160.0	153.0	155.0					6																	69666603		2203	4300	6503	SO:0001589	frameshift_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69666603delA	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1427delA	6.37:g.69666603delA	ENSP00000359630:p.Glu476fs						p.E476fs	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			8	2248	+		all_lung(197;0.212)	476			TSP type-1 4.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Frame_Shift_Del	DEL	ENST00000370598.1	37	c.1427delA	CCDS4968.1																																																																																				0.502	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			23	101						23	101	---	---	---	---
KAT5	10524	broad.mit.edu	37	11	65484145	65484145	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr11:65484145delC	ENST00000377046.3	+	10	1210	c.938delC	c.(937-939)tccfs	p.S313fs	KAT5_ENST00000341318.4_Frame_Shift_Del_p.S346fs|KAT5_ENST00000534650.1_Frame_Shift_Del_p.S102fs|KAT5_ENST00000352980.4_Frame_Shift_Del_p.S261fs|KAT5_ENST00000530446.1_Frame_Shift_Del_p.S294fs	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	313	MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CAGAGTTATTCCCAGAACCTG	0.493																																						ENST00000341318.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						c.(1036-1038)tcfs		K(lysine) acetyltransferase 5							128.0	131.0	130.0					11																	65484145		2201	4297	6498	SO:0001589	frameshift_variant	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65484145delC	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.938delC	11.37:g.65484145delC	ENSP00000366245:p.Ser313fs					KAT5_ENST00000530446.1_Frame_Shift_Del_p.S294fs|KAT5_ENST00000534650.1_Frame_Shift_Del_p.S102fs|KAT5_ENST00000377046.3_Frame_Shift_Del_p.S313fs|KAT5_ENST00000352980.4_Frame_Shift_Del_p.S261fs	p.S346fs	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN			9	1271	+			313					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Frame_Shift_Del	DEL	ENST00000377046.3	37	c.1037delC	CCDS31610.1																																																																																				0.493	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		22	61						22	61	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	RP6-65G23.3_ENST00000557691.1_lincRNA|MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			1	Deletion - In frame(1)	p.E38delE(1)	ovary(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(112-117)gcg>g		mitogen-activated protein kinase kinase kinase 9																																				SO:0001651	inframe_deletion	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275774_71275776delCCT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del					MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del	p.EA38del			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	112_114	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	ENST00000554752.2	37	c.113_115delAGG																																																																																					0.773	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			3	4						3	4	---	---	---	---
PIK3R6	146850	broad.mit.edu	37	17	8742936	8742936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr17:8742936delT	ENST00000311434.9	-	3	331	c.92delA	c.(91-93)aacfs	p.N31fs	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	31					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CTTACCTTGGTTGCTCTGCAG	0.647																																						ENST00000311434.9																			0											c.(91-93)acfs		phosphoinositide-3-kinase, regulatory subunit 6							16.0	18.0	18.0					17																	8742936		1955	4124	6079	SO:0001589	frameshift_variant	146850				platelet activation	cytosol		g.chr17:8742936delT	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.92delA	17.37:g.8742936delT	ENSP00000475670:p.Asn31fs					PIK3R6_ENST00000434064.2_5'UTR	p.N31fs	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			3	331	-			31					Q658R3	Frame_Shift_Del	DEL	ENST00000311434.9	37	c.92delA																																																																																					0.647	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		2	4						2	4	---	---	---	---
GATA5	140628	broad.mit.edu	37	20	61041598	61041598	+	Frame_Shift_Del	DEL	G	G	-	rs367777789		TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr20:61041598delG	ENST00000252997.2	-	4	770	c.709delC	c.(709-711)cgcfs	p.R238fs		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	238					blood coagulation (GO:0007596)|cellular response to BMP stimulus (GO:0071773)|intestinal epithelial cell differentiation (GO:0060575)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			CCGGCGCGGCGGGACGAGGAC	0.721																																						ENST00000252997.2																			0				kidney(1)|lung(3)|ovary(1)|stomach(1)	6						c.(709-711)gcfs		GATA binding protein 5							18.0	19.0	19.0					20																	61041598		2128	4166	6294	SO:0001589	frameshift_variant	140628				blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:61041598delG	BC047790, BC117356	CCDS13499.1	20q13.33	2013-07-17	2001-11-28		ENSG00000130700	ENSG00000130700		"""GATA zinc finger domain containing"""	15802	protein-coding gene	gene with protein product		611496	"""GATA-binding protein 5"""			9566909	Standard	NM_080473		Approved	bB379O24.1, GATAS	uc002ycx.1	Q9BWX5	OTTHUMG00000032919	ENST00000252997.2:c.709delC	20.37:g.61041598delG	ENSP00000252997:p.Arg238fs						p.R238fs	NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.08e-06)		4	770	-	Breast(26;2.05e-08)		238					D9ZGF7|Q17RE2|Q86VU4	Frame_Shift_Del	DEL	ENST00000252997.2	37	c.709delC	CCDS13499.1																																																																																				0.721	GATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080038.2	NM_080473		2	4						2	4	---	---	---	---
RP11-1007I13.4	0	broad.mit.edu	37	X	151296337	151296337	+	RNA	DEL	A	A	-	rs5904333		TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chrX:151296337delA	ENST00000509345.2	-	0	172																											GGAATTCCAGAAAAAAAAAAA	0.448																																						ENST00000509345.2																			0																																																			0							g.chrX:151296337delA																													X.37:g.151296337delA														0	172	-									RNA	DEL	ENST00000509345.2	37																																																																																						0.448	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000445981.1			3	3						3	3	---	---	---	---
