#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
HIC2	23119	broad.mit.edu	37	22	21800664	21800664	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr22:21800664C>T	ENST00000443632.2	+	2	1852	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S	HIC2_ENST00000407464.2_Missense_Mutation_p.P494S|HIC2_ENST00000407598.2_Missense_Mutation_p.P494S			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	494					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CCTGTCAGCACCCAGTGCGGC	0.642																																					NSCLC(23;437 858 2282 27947 40366)	ENST00000443632.2																			0				NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1480-1482)Ccc>Tcc		hypermethylated in cancer 2							38.0	38.0	38.0					22																	21800664		2203	4300	6503	SO:0001583	missense	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21800664C>T	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1480C>T	22.37:g.21800664C>T	ENSP00000387757:p.Pro494Ser					HIC2_ENST00000407464.2_Missense_Mutation_p.P494S|HIC2_ENST00000407598.2_Missense_Mutation_p.P494S	p.P494S			Q96JB3	HIC2_HUMAN			2	1852	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	494					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Missense_Mutation	SNP	ENST00000443632.2	37	c.1480C>T	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.520695	0.00967	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.11930	2.73;2.73;2.73	4.39	4.39	0.52855	.	0.127163	0.53938	D	0.000047	T	0.11623	0.0283	L	0.29908	0.895	0.47905	D	0.999548	B	0.29862	0.259	B	0.29524	0.103	T	0.11372	-1.0590	10	0.40728	T	0.16	.	14.4823	0.67592	0.0:1.0:0.0:0.0	.	494	Q96JB3	HIC2_HUMAN	S	494	ENSP00000385319:P494S;ENSP00000384889:P494S;ENSP00000387757:P494S	ENSP00000385319:P494S	P	+	1	0	HIC2	20130664	0.966000	0.33281	0.547000	0.28179	0.054000	0.15201	2.478000	0.45189	2.282000	0.76494	0.563000	0.77884	CCC		0.642	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			20	24	0	0	0	1	0	20	24				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	23666							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			5	95	0	0	0	1	0	5	95				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	3	45	0	0	0	1	0	3	45				
LIPJ	142910	broad.mit.edu	37	10	90365406	90365406	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr10:90365406A>T	ENST00000371939.3	+	10	1126	c.812A>T	c.(811-813)cAt>cTt	p.H271L		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	271					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		AATTCTACTCATTTGAAAGCT	0.338																																						ENST00000371939.3																			0				large_intestine(4)|lung(4)|ovary(1)	9						c.(811-813)cAt>cTt		lipase, family member J							91.0	92.0	91.0					10																	90365406		2203	4300	6503	SO:0001583	missense	142910				lipid catabolic process		hydrolase activity	g.chr10:90365406A>T	BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"""lipase-like, ab-hydrolase domain containing 1"", ""lipase, family member J"""	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.812A>T	10.37:g.90365406A>T	ENSP00000361007:p.His271Leu						p.H271L	NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)	10	1126	+		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)	271					A8MT98|Q0P671	Missense_Mutation	SNP	ENST00000371939.3	37	c.812A>T	CCDS31240.1	.	.	.	.	.	.	.	.	.	.	A	7.165	0.586462	0.13749	.	.	ENSG00000204022	ENST00000371939;ENST00000531458	T;T	0.70164	0.18;-0.46	3.69	1.2	0.21068	Alpha/beta hydrolase fold-1 (1);	1.354340	0.04888	N	0.448900	T	0.58807	0.2148	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39722	-0.9600	10	0.42905	T	0.14	-6.4428	4.24	0.10643	0.7176:0.0:0.1051:0.1773	.	271	Q5W064	LIPJ_HUMAN	L	271;86	ENSP00000361007:H271L;ENSP00000434211:H86L	ENSP00000361007:H271L	H	+	2	0	LIPJ	90355386	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	1.488000	0.35551	0.112000	0.17975	-0.350000	0.07774	CAT		0.338	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049248.2	XM_084377		4	80	0	0	0	1	0	4	80				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	6	39	0	0	0	1	0	6	39				
KCNT2	343450	broad.mit.edu	37	1	196254823	196254823	+	Silent	SNP	C	C	A			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr1:196254823C>A	ENST00000294725.9	-	23	3576	c.2661G>T	c.(2659-2661)gtG>gtT	p.V887V	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Silent_p.V813V|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Silent_p.V813V|KCNT2_ENST00000367433.5_Silent_p.V863V			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	887					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGATGCTAAACACCCTCCCAG	0.353																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2587-2589)gtG>gtT		potassium channel, subfamily T, member 2							86.0	83.0	84.0					1																	196254823		2203	4300	6503	SO:0001819	synonymous_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196254823C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2661G>T	1.37:g.196254823C>A						KCNT2_ENST00000367431.4_Silent_p.V813V|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Silent_p.V887V|KCNT2_ENST00000498426.1_5'UTR	p.V863V			Q6UVM3	KCNT2_HUMAN			22	2690	-			887					Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	c.2589G>T	CCDS1384.1																																																																																				0.353	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		4	43	1	0	0.150653	1	0.150653	4	43				
NXF3	56000	broad.mit.edu	37	X	102339403	102339403	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chrX:102339403G>A	ENST00000395065.3	-	3	319	c.218C>T	c.(217-219)cCc>cTc	p.P73L	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	73					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CCGATTATAGGGTGAAATAGT	0.438																																						ENST00000395065.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(217-219)cCc>cTc		nuclear RNA export factor 3							157.0	129.0	139.0					X																	102339403		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102339403G>A	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.218C>T	X.37:g.102339403G>A	ENSP00000378504:p.Pro73Leu					NXF3_ENST00000425463.2_5'UTR|NXF3_ENST00000425644.1_5'UTR	p.P73L	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN			3	319	-			73					B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.218C>T	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	G	4.311	0.057109	0.08339	.	.	ENSG00000147206	ENST00000395065	T	0.44083	0.93	3.94	0.0526	0.14303	.	1.178530	0.05871	N	0.624605	T	0.24812	0.0602	L	0.43152	1.355	0.09310	N	0.999999	P;B	0.40970	0.734;0.048	B;B	0.32533	0.147;0.009	T	0.11891	-1.0569	10	0.11182	T	0.66	5.279	1.6649	0.02799	0.1131:0.1779:0.3394:0.3696	.	73;73	B4DYI1;Q9H4D5	.;NXF3_HUMAN	L	73	ENSP00000378504:P73L	ENSP00000378504:P73L	P	-	2	0	NXF3	102226059	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.208000	0.01229	-0.118000	0.11851	0.544000	0.68410	CCC		0.438	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		12	98	0	0	0	1	0	12	98				
PLXNA3	55558	broad.mit.edu	37	X	153695647	153695647	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chrX:153695647C>T	ENST00000369682.3	+	19	3449	c.3274C>T	c.(3274-3276)Cgg>Tgg	p.R1092W		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1092	IPT/TIG 3.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCCAGCCTCGGGCGCAAGG	0.617																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(3274-3276)Cgg>Tgg		plexin A3							49.0	49.0	49.0					X																	153695647		2201	4299	6500	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153695647C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3274C>T	X.37:g.153695647C>T	ENSP00000358696:p.Arg1092Trp						p.R1092W	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			19	3449	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1092			IPT/TIG 3.		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.3274C>T	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.051044	0.55218	.	.	ENSG00000130827	ENST00000369682	T	0.01025	5.43	5.67	2.8	0.32819	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);	0.292311	0.20047	U	0.100399	T	0.01558	0.0050	N	0.19112	0.55	0.09310	N	1	P	0.44816	0.844	P	0.51453	0.67	T	0.50346	-0.8839	10	0.56958	D	0.05	.	13.1185	0.59313	0.4135:0.5865:0.0:0.0	.	1092	P51805	PLXA3_HUMAN	W	1092	ENSP00000358696:R1092W	ENSP00000358696:R1092W	R	+	1	2	PLXNA3	153348841	0.001000	0.12720	0.010000	0.14722	0.791000	0.44710	1.663000	0.37429	0.139000	0.18822	0.529000	0.55759	CGG		0.617	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		33	41	0	0	0	1	0	33	41				
ZNF184	7738	broad.mit.edu	37	6	27419847	27419847	+	Silent	SNP	C	C	T	rs199612610		TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr6:27419847C>T	ENST00000211936.6	-	6	1775	c.1491G>A	c.(1489-1491)acG>acA	p.T497T	ZNF184_ENST00000377419.1_Silent_p.T497T	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GCTTTTCTCTCGTGTGAATTC	0.393																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(1489-1491)acG>acA		zinc finger protein 184							82.0	78.0	79.0					6																	27419847		2203	4300	6503	SO:0001819	synonymous_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419847C>T	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1491G>A	6.37:g.27419847C>T						ZNF184_ENST00000377419.1_Silent_p.T497T	p.T497T	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	1775	-			497					B2R715|O60792|Q8TBA9	Silent	SNP	ENST00000211936.6	37	c.1491G>A	CCDS4624.1																																																																																				0.393	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		4	66	0	0	0	1	0	4	66				
ZZEF1	23140	broad.mit.edu	37	17	3981268	3981268	+	Silent	SNP	G	G	A			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr17:3981268G>A	ENST00000381638.2	-	19	3022	c.2898C>T	c.(2896-2898)tcC>tcT	p.S966S	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	966							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGCCTTGGACGGACCAGAACA	0.547																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(2896-2898)tcC>tcT		zinc finger, ZZ-type with EF-hand domain 1							81.0	74.0	77.0					17																	3981268		2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3981268G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2898C>T	17.37:g.3981268G>A						ZZEF1_ENST00000574474.1_5'UTR	p.S966S	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			19	3022	-			966					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.2898C>T	CCDS11043.1																																																																																				0.547	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		3	45	0	0	0	1	0	3	45				
MUC21	394263	broad.mit.edu	37	6	30954121	30954121	+	Missense_Mutation	SNP	G	G	A	rs137862032	byFrequency	TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr6:30954121G>A	ENST00000376296.3	+	2	410	c.169G>A	c.(169-171)Gtc>Atc	p.V57I	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	57	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTCCAGTGGGGTCAGCACAGC	0.567																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(169-171)Gtc>Atc		mucin 21, cell surface associated		G	ILE/VAL	0,4406		0,0,2203	151.0	136.0	141.0		169	-3.4	0.0	6	dbSNP_134	141	2,8598	2.2+/-6.3	0,2,4298	no	missense	MUC21	NM_001010909.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	57/567	30954121	2,13004	2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954121G>A	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.169G>A	6.37:g.30954121G>A	ENSP00000365473:p.Val57Ile					MUC21_ENST00000486149.2_5'UTR	p.V57I	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	410	+			57			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.169G>A	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	G	7.413	0.635179	0.14322	0.0	2.33E-4	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.01804	4.63	2.02	-3.37	0.04898	.	.	.	.	.	T	0.00328	0.0010	N	0.08118	0	0.09310	N	1	B	0.20368	0.044	B	0.21546	0.035	T	0.41610	-0.9499	9	0.32370	T	0.25	3.4664	2.7644	0.05316	0.4888:0.0:0.3016:0.2096	.	57	Q5SSG8	MUC21_HUMAN	I	57	ENSP00000365473:V57I	ENSP00000365473:V57I	V	+	1	0	MUC21	31062100	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.398000	0.07259	-0.650000	0.05423	-0.436000	0.05848	GTC		0.567	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		9	166	0	0	0	1	0	9	166				
SLC15A2	6565	broad.mit.edu	37	3	121647372	121647372	+	Silent	SNP	T	T	A			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr3:121647372T>A	ENST00000489711.1	+	15	1699	c.1311T>A	c.(1309-1311)tcT>tcA	p.S437S	SLC15A2_ENST00000295605.2_Silent_p.S406S|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	437					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AAAACAATTCTCTGTTGATAG	0.428																																						ENST00000489711.1																			0				NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36						c.(1309-1311)tcT>tcA		solute carrier family 15 (oligopeptide transporter), member 2	Cefadroxil(DB01140)						181.0	189.0	186.0					3																	121647372		2203	4300	6503	SO:0001819	synonymous_variant	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121647372T>A	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1311T>A	3.37:g.121647372T>A						SLC15A2_ENST00000295605.2_Silent_p.S406S|SLC15A2_ENST00000465060.1_3'UTR	p.S437S	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	15	1699	+			437					A8K1A5|B4E2A7	Silent	SNP	ENST00000489711.1	37	c.1311T>A	CCDS3007.1																																																																																				0.428	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		5	89	0	0	0	1	0	5	89				
SLC13A5	284111	broad.mit.edu	37	17	6589585	6589585	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr17:6589585C>T	ENST00000433363.2	-	12	1881	c.1648G>A	c.(1648-1650)Gcc>Acc	p.A550T	SLC13A5_ENST00000381074.4_Missense_Mutation_p.A507T|SLC13A5_ENST00000293800.6_Missense_Mutation_p.A533T|SLC13A5_ENST00000573648.1_Missense_Mutation_p.A504T	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	550					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TCAAATATGGCCCGTCCCCAG	0.473																																						ENST00000433363.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.(1648-1650)Gcc>Acc		solute carrier family 13 (sodium-dependent citrate transporter), member 5							178.0	159.0	165.0					17																	6589585		2203	4300	6503	SO:0001583	missense	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6589585C>T	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.1648G>A	17.37:g.6589585C>T	ENSP00000406220:p.Ala550Thr					SLC13A5_ENST00000381074.4_Missense_Mutation_p.A507T|SLC13A5_ENST00000293800.6_Missense_Mutation_p.A533T|SLC13A5_ENST00000573648.1_Missense_Mutation_p.A504T	p.A550T	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN			12	1881	-			550					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	ENST00000433363.2	37	c.1648G>A	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365448	0.24684	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T	0.02944	4.1	5.2	1.93	0.25924	.	0.545495	0.20825	N	0.084988	T	0.02767	0.0083	L	0.54323	1.7	0.09310	N	1	B;B;B;B	0.15473	0.006;0.01;0.006;0.013	B;B;B;B	0.19666	0.007;0.015;0.026;0.026	T	0.45381	-0.9265	10	0.15066	T	0.55	.	2.9295	0.05795	0.1424:0.5482:0.1392:0.1702	.	504;507;533;550	B7ZLB4;F8W7N2;B3KXR0;Q86YT5	.;.;.;S13A5_HUMAN	T	550;504;507	ENSP00000370464:A507T	ENSP00000293800:A550T	A	-	1	0	SLC13A5	6530309	0.001000	0.12720	0.560000	0.28344	0.944000	0.59088	0.636000	0.24644	0.698000	0.31739	-0.140000	0.14226	GCC		0.473	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		3	48	0	0	0	1	0	3	48				
CD180	4064	broad.mit.edu	37	5	66479625	66479625	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr5:66479625T>A	ENST00000256447.4	-	3	1203	c.1046A>T	c.(1045-1047)cAc>cTc	p.H349L		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	349					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GATGTAGAGGTGTGTAAGGGA	0.423																																						ENST00000256447.4																			0				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34						c.(1045-1047)cAc>cTc		CD180 molecule							114.0	108.0	110.0					5																	66479625		2203	4300	6503	SO:0001583	missense	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66479625T>A	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1046A>T	5.37:g.66479625T>A	ENSP00000256447:p.His349Leu						p.H349L	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	1203	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	349					B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	c.1046A>T	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.873425	0.51695	.	.	ENSG00000134061	ENST00000256447	T	0.56776	0.44	4.94	4.94	0.65067	.	0.149149	0.43260	D	0.000593	T	0.46425	0.1392	N	0.20766	0.605	0.47065	D	0.999307	D	0.69078	0.997	P	0.58130	0.833	T	0.33240	-0.9876	10	0.11485	T	0.65	.	9.3023	0.37853	0.0:0.0802:0.0:0.9198	.	349	Q99467	CD180_HUMAN	L	349	ENSP00000256447:H349L	ENSP00000256447:H349L	H	-	2	0	CD180	66515381	0.726000	0.28059	0.993000	0.49108	0.692000	0.40212	0.821000	0.27338	2.075000	0.62263	0.533000	0.62120	CAC		0.423	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		17	144	0	0	0	1	0	17	144				
FAHD2A	51011	broad.mit.edu	37	2	96072903	96072903	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr2:96072903C>A	ENST00000233379.4	+	3	613	c.460C>A	c.(460-462)Cag>Aag	p.Q154K	FAHD2A_ENST00000447036.1_Missense_Mutation_p.Q154K	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	154							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						ACCACAGAGCCAGGTCAGTGT	0.582																																						ENST00000233379.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						c.(460-462)Cag>Aag		fumarylacetoacetate hydrolase domain containing 2A							99.0	100.0	100.0					2																	96072903		2203	4300	6503	SO:0001583	missense	51011						hydrolase activity|metal ion binding	g.chr2:96072903C>A	AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.460C>A	2.37:g.96072903C>A	ENSP00000233379:p.Gln154Lys					FAHD2A_ENST00000447036.1_Missense_Mutation_p.Q154K	p.Q154K	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN			3	613	+			154					Q9Y3B0	Missense_Mutation	SNP	ENST00000233379.4	37	c.460C>A	CCDS2014.1	.	.	.	.	.	.	.	.	.	.	C	6.712	0.500081	0.12762	.	.	ENSG00000115042	ENST00000447036;ENST00000233379	D;D	0.94537	-3.45;-3.45	3.35	1.16	0.20824	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.560224	0.18836	N	0.129832	T	0.78910	0.4358	N	0.01679	-0.765	0.27020	N	0.964493	B	0.02656	0.0	B	0.06405	0.002	T	0.69187	-0.5211	10	0.06236	T	0.91	.	8.2512	0.31724	0.5974:0.4026:0.0:0.0	.	154	Q96GK7	FAH2A_HUMAN	K	154	ENSP00000406424:Q154K;ENSP00000233379:Q154K	ENSP00000233379:Q154K	Q	+	1	0	FAHD2A	95436630	0.991000	0.36638	0.983000	0.44433	0.874000	0.50279	0.475000	0.22164	0.657000	0.30906	0.561000	0.74099	CAG		0.582	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252778.1	NM_016044		4	64	1	0	1.23904e-05	1	1.39392e-05	4	64				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	28	0	0	0	1	0	4	28				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	57	0	0	0	1	0	3	57				
TTN	7273	broad.mit.edu	37	2	179397305	179397305	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr2:179397305C>G	ENST00000591111.1	-	308	99338	c.99114G>C	c.(99112-99114)gaG>gaC	p.E33038D	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32111D|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25739D|TTN_ENST00000460472.2_Missense_Mutation_p.E25614D|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25806D|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E34679D|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589842.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33038					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)			GACGCAGCCTCTCTTCCTCTG	0.458																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(104035-104037)gaG>gaC		titin							104.0	101.0	102.0					2																	179397305		1897	4135	6032	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179397305C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.99114G>C	2.37:g.179397305C>G	ENSP00000465570:p.Glu33038Asp					TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32111D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33038D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25739D|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25806D|TTN_ENST00000460472.2_Missense_Mutation_p.E25614D|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.E34679D	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	104261	-			33038					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.104037G>C		.	.	.	.	.	.	.	.	.	.	C	12.76	2.033771	0.35893	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65549	-0.16;0.07;0.05;0.04	6.08	2.53	0.30540	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.61502	0.2352	N	0.19112	0.55	0.39925	D	0.974201	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.72625	0.978;0.978;0.978;0.978	T	0.63220	-0.6686	9	0.87932	D	0	.	7.3903	0.26905	0.0:0.5076:0.0:0.4924	.	25614;25739;25806;33038	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	32111;25614;25806;25739;25611	ENSP00000343764:E32111D;ENSP00000434586:E25614D;ENSP00000340554:E25806D;ENSP00000352154:E25739D	ENSP00000340554:E25806D	E	-	3	2	TTN	179105551	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.764000	0.26532	0.715000	0.32103	0.655000	0.94253	GAG		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	139	0	0	0	1	0	5	139				
LACE1	246269	broad.mit.edu	37	6	108840904	108840904	+	Missense_Mutation	SNP	G	G	A	rs141756676	byFrequency	TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr6:108840904G>A	ENST00000368977.4	+	12	1394	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	403						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TTTCAGGTGCGTATAATTTGC	0.353																																						ENST00000368977.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(1207-1209)cGt>cAt		lactation elevated 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	141.0	134.0	137.0		1208	5.8	1.0	6	dbSNP_134	137	5,8595	3.7+/-12.6	0,5,4295	yes	missense	LACE1	NM_145315.3	29	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	probably-damaging	403/482	108840904	6,13000	2203	4300	6503	SO:0001583	missense	246269						ATP binding	g.chr6:108840904G>A	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.1208G>A	6.37:g.108840904G>A	ENSP00000357973:p.Arg403His						p.R403H	NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	12	1394	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	403					Q8N6A3	Missense_Mutation	SNP	ENST00000368977.4	37	c.1208G>A	CCDS5067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.13|19.13	3.768032|3.768032	0.69878|0.69878	2.27E-4|2.27E-4	5.81E-4|5.81E-4	ENSG00000135537|ENSG00000135537	ENST00000368977|ENST00000421954	.|.	.|.	.|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83105|0.83105	0.5182|0.5182	M|M	0.89478|0.89478	3.035|3.035	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	D|D	0.84565|0.84565	0.0652|0.0652	9|5	0.87932|.	D|.	0|.	-7.3946|-7.3946	19.6956|19.6956	0.96023|0.96023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	403|.	Q8WV93|.	LACE1_HUMAN|.	H|I	403|271	.|.	ENSP00000357973:R403H|.	R|V	+|+	2|1	0|0	LACE1|LACE1	108947597|108947597	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.180000|0.180000	0.23129|0.23129	8.206000|8.206000	0.89745|0.89745	2.757000|2.757000	0.94681|0.94681	0.561000|0.561000	0.74099|0.74099	CGT|GTA		0.353	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		20	52	0	0	0	1	0	20	52				
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs200907281	byFrequency	TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458													.|||	1958	0.390974	0.1899	0.3501	5008	,	,		13255	0.6895		0.4553	False		,,,				2504	0.318					ENST00000535591.1																			3	Substitution - coding silent(3)	p.L274L(3)	kidney(2)|endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(820-822)ctC>ctA		PRAME family member 11							67.0	40.0	49.0					1																	12885289		582	1168	1750	SO:0001819	synonymous_variant	440560							g.chr1:12885289G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.822C>A	1.37:g.12885289G>T							p.L274L	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1017	-			274						Silent	SNP	ENST00000535591.1	37	c.822C>A	CCDS53268.1																																																																																				0.458	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		8	381	1	0	2.17888e-05	1	2.35319e-05	8	381				
CAND2	23066	broad.mit.edu	37	3	12851594	12851594	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr3:12851594delC	ENST00000456430.2	+	5	569	c.528delC	c.(526-528)ctcfs	p.L177fs	CAND2_ENST00000295989.5_Frame_Shift_Del_p.L84fs|CAND2_ENST00000466558.1_3'UTR	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	177					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACGCCAGCCTCCTGCACTGTC	0.751																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(526-528)ctfs		cullin-associated and neddylation-dissociated 2 (putative)							3.0	4.0	3.0					3																	12851594		1694	3696	5390	SO:0001589	frameshift_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12851594delC		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.528delC	3.37:g.12851594delC	ENSP00000387641:p.Leu177fs					CAND2_ENST00000295989.5_Frame_Shift_Del_p.L84fs|CAND2_ENST00000466558.1_3'UTR	p.L177fs	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			5	569	+			177					B9EGM9|E9KL24	Frame_Shift_Del	DEL	ENST00000456430.2	37	c.528delC	CCDS54554.1																																																																																				0.751	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		2	4						2	4	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586653	1586654	+	In_Frame_Ins	INS	-	-	GCC	rs112463195|rs374586451|rs200315697		TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr7:1586653_1586654insGCC	ENST00000297477.5	-	9	1492_1493	c.1176_1177insGGC	c.(1174-1179)ggctcc>ggcGGCtcc	p.392_393insG	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	392					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CTCCCGCCGGAGCCGCCGCTGG	0.708																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1174-1179)ggccgg>ggGGCccgg		transmembrane protein 184A																																				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586653_1586654insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1174_1176dupGGC	7.37:g.1586657_1586659dupGCC	ENSP00000297477:p.Gly394_Gly395dup						p.392_393GR>GAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1492_1493	-		Ovarian(82;0.0253)	392					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1176_1177insGGC	CCDS43537.1																																																																																				0.708	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		10	7						10	7	---	---	---	---
LOC102723968	102723968	broad.mit.edu	37	13	64407210	64407211	+	lincRNA	INS	-	-	TACTGTCAG			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr13:64407210_64407211insTACTGTCAG	ENST00000607822.1	-	0	2159																											AGACCTTTATATAATTGCCAAA	0.366																																						ENST00000607822.1																			0																																																			102723968							g.chr13:64407210_64407211insTACTGTCAG																													13.37:g.64407210_64407211insTACTGTCAG														0	2159	-									RNA	INS	ENST00000607822.1	37																																																																																						0.366	RP11-394A14.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000471084.1			9	200						9	200	---	---	---	---
