#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
ANKRD36	375248	broad.mit.edu	37	2	97808552	97808552	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr2:97808552A>G	ENST00000461153.2	+	8	1125	c.881A>G	c.(880-882)gAt>gGt	p.D294G	ANKRD36_ENST00000420699.2_Missense_Mutation_p.D294G			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	294										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GAAATAAAGGATGGACAAAAA	0.353																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(880-882)gAt>gGt		ankyrin repeat domain 36							53.0	49.0	50.0					2																	97808552		692	1590	2282	SO:0001583	missense	375248							g.chr2:97808552A>G	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.881A>G	2.37:g.97808552A>G	ENSP00000419530:p.Asp294Gly					ANKRD36_ENST00000461153.2_Missense_Mutation_p.D294G	p.D294G	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			8	1125	+			294					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.881A>G	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	10.55	1.381037	0.24944	.	.	ENSG00000135976	ENST00000461153;ENST00000420699	T;T	0.78246	-1.16;-1.16	1.38	1.38	0.22167	.	.	.	.	.	T	0.69424	0.3109	N	0.08118	0	0.09310	N	0.999994	D	0.57571	0.98	P	0.61658	0.892	T	0.57723	-0.7762	9	0.56958	D	0.05	.	4.9224	0.13876	1.0:0.0:0.0:0.0	.	294	A6QL64	AN36A_HUMAN	G	294	ENSP00000419530:D294G;ENSP00000391950:D294G	ENSP00000391950:D294G	D	+	2	0	ANKRD36	97172279	0.694000	0.27738	0.021000	0.16686	0.017000	0.09413	1.464000	0.35288	0.885000	0.36088	0.136000	0.15936	GAT		0.353	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			4	6	0	0	0	1	0	4	6				
SERPINB11	89778	broad.mit.edu	37	18	61379924	61379924	+	RNA	SNP	T	T	A			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr18:61379924T>A	ENST00000382749.5	+	0	599				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000536691.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TGGCATTTCATCAGGTAAGTC	0.438																																					Ovarian(27;496 784 5942 8975 23930)	ENST00000544088.1																			0				breast(1)|cervix(1)|kidney(1)|lung(3)	6								serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)							104.0	100.0	101.0					18																	61379924		1903	4121	6024			89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61379924T>A			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61379924T>A						SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA		NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN			0	416	+		Esophageal squamous(42;0.129)						A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	SNP	ENST00000382749.5	37			.	.	.	.	.	.	.	.	.	.	T	9.767	1.171526	0.21704	.	.	ENSG00000206072	ENST00000544088	D	0.83755	-1.76	5.44	-1.1	0.09872	Serpin domain (3);	.	.	.	.	T	0.75968	0.3922	L	0.33710	1.025	0.51767	D	0.999931	B;P;P	0.42203	0.401;0.731;0.773	B;P;P	0.51101	0.312;0.529;0.659	T	0.69472	-0.5136	9	0.46703	T	0.11	.	1.306	0.02088	0.1238:0.2149:0.2533:0.408	.	118;118;118	Q96P15-2;F5GYW9;Q96P15	.;.;SPB11_HUMAN	Q	118	ENSP00000441497:H118Q	ENSP00000421854:H118Q	H	+	3	2	SERPINB11	59530904	0.044000	0.20184	0.502000	0.27614	0.004000	0.04260	-0.409000	0.07160	0.026000	0.15269	-0.435000	0.05868	CAT		0.438	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		34	46	0	0	0	1	0	34	46				
ANKRD36	375248	broad.mit.edu	37	2	97867960	97867960	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr2:97867960C>G	ENST00000461153.2	+	47	3123	c.2879C>G	c.(2878-2880)gCc>gGc	p.A960G	ANKRD36_ENST00000420699.2_Missense_Mutation_p.A960G			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	960										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AAACCACCAGCCTTGAAGGTA	0.338																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2878-2880)gCc>gGc		ankyrin repeat domain 36							119.0	121.0	121.0					2																	97867960		692	1591	2283	SO:0001583	missense	375248							g.chr2:97867960C>G	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2879C>G	2.37:g.97867960C>G	ENSP00000419530:p.Ala960Gly					ANKRD36_ENST00000461153.2_Missense_Mutation_p.A960G	p.A960G	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			47	3123	+			960					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2879C>G	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.791	-0.043619	0.07452	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.80304	-1.36;-1.36	0.673	-1.35	0.09114	.	.	.	.	.	T	0.55321	0.1913	N	0.24115	0.695	0.09310	N	1	P	0.42584	0.784	B	0.25884	0.064	T	0.48080	-0.9066	8	0.32370	T	0.25	.	.	.	.	.	960	A6QL64	AN36A_HUMAN	G	960;960;322	ENSP00000419530:A960G;ENSP00000391950:A960G	ENSP00000391950:A960G	A	+	2	0	ANKRD36	97231687	0.000000	0.05858	0.008000	0.14137	0.010000	0.07245	-0.041000	0.12084	-0.612000	0.05701	0.175000	0.17021	GCC		0.338	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			3	37	0	0	0	1	0	3	37				
CCDC97	90324	broad.mit.edu	37	19	41822618	41822618	+	Missense_Mutation	SNP	G	G	A	rs375014029		TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr19:41822618G>A	ENST00000269967.3	+	2	498	c.376G>A	c.(376-378)Gtg>Atg	p.V126M		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	126										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						CTTTGGCCACGTGCGTGGCGA	0.677																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(376-378)Gtg>Atg		coiled-coil domain containing 97		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	47.0	45.0	46.0		376	-1.1	0.9	19		46	0,8600		0,0,4300	no	missense	CCDC97	NM_052848.1	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	126/344	41822618	1,13005	2203	4300	6503	SO:0001583	missense	90324							g.chr19:41822618G>A	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.376G>A	19.37:g.41822618G>A	ENSP00000269967:p.Val126Met						p.V126M	NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN			2	498	+			126					Q658N6|Q96IF3	Missense_Mutation	SNP	ENST00000269967.3	37	c.376G>A	CCDS12578.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570475	0.28003	2.27E-4	0.0	ENSG00000142039	ENST00000269967	.	.	.	4.51	-1.13	0.09775	.	0.196250	0.33161	N	0.005218	T	0.22936	0.0554	N	0.08118	0	0.33834	D	0.630643	B	0.12013	0.005	B	0.06405	0.002	T	0.07385	-1.0775	9	0.40728	T	0.16	-6.5695	9.3578	0.38177	0.0:0.7424:0.1357:0.1219	.	126	Q96F63	CCD97_HUMAN	M	126	.	ENSP00000269967:V126M	V	+	1	0	CCDC97	46514458	0.910000	0.30920	0.936000	0.37596	0.685000	0.39939	-0.120000	0.10660	-0.343000	0.08351	-0.357000	0.07601	GTG		0.677	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		5	37	0	0	0	1	0	5	37				
NLRP7	199713	broad.mit.edu	37	19	55449556	55449556	+	Missense_Mutation	SNP	C	C	T	rs536060023		TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr19:55449556C>T	ENST00000590030.1	-	4	2025	c.1985G>A	c.(1984-1986)cGc>cAc	p.R662H	NLRP7_ENST00000588756.1_Missense_Mutation_p.R662H|NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000340844.2_Missense_Mutation_p.R662H|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000446217.1_Missense_Mutation_p.R690H|NLRP7_ENST00000592784.1_Missense_Mutation_p.R662H			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	662							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGTCCAGAGGCGAAGAGAGCG	0.493													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16799	0.0		0.0	False		,,,				2504	0.0					ENST00000588756.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1984-1986)cGc>cAc		NLR family, pyrin domain containing 7							108.0	105.0	106.0					19																	55449556		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55449556C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1985G>A	19.37:g.55449556C>T	ENSP00000465520:p.Arg662His					NLRP7_ENST00000590030.1_Missense_Mutation_p.R662H|NLRP7_ENST00000592784.1_Missense_Mutation_p.R662H|NLRP7_ENST00000446217.1_Missense_Mutation_p.R690H|NLRP7_ENST00000340844.2_Missense_Mutation_p.R662H|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000448121.2_Intron	p.R662H			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	7	2471	-			662					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1985G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.396978	0.01175	.	.	ENSG00000167634	ENST00000328092;ENST00000340844;ENST00000446217;ENST00000399724	T;T	0.54279	0.58;0.58	2.19	-4.38	0.03622	.	.	.	.	.	T	0.27027	0.0662	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.003	B;B;B	0.06405	0.001;0.002;0.002	T	0.08868	-1.0701	9	0.41790	T	0.15	.	7.1553	0.25635	0.0:0.3537:0.3641:0.2822	.	690;662;662	E7EPM2;Q32MH9;Q8WX94	.;.;NALP7_HUMAN	H	662;662;690;429	ENSP00000339491:R662H;ENSP00000414273:R690H	ENSP00000329568:R662H	R	-	2	0	NLRP7	60141368	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.201000	0.00560	-3.127000	0.00237	-0.254000	0.11334	CGC		0.493	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		4	111	0	0	0	1	0	4	111				
CTNNA3	29119	broad.mit.edu	37	10	69366808	69366808	+	Splice_Site	SNP	C	C	A			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr10:69366808C>A	ENST00000433211.2	-	3	274		c.e3-1		CTNNA3_ENST00000373744.4_Splice_Site|CTNNA3_ENST00000545309.1_Splice_Site	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GTGTGGTAACCTAAAATTGGA	0.408																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.e3-1		catenin (cadherin-associated protein), alpha 3							80.0	80.0	80.0					10																	69366808		2203	4300	6503	SO:0001630	splice_region_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:69366808C>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.100-1G>T	10.37:g.69366808C>A						CTNNA3_ENST00000373744.4_Splice_Site|CTNNA3_ENST00000545309.1_Splice_Site		NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			3	274	-									Splice_Site	SNP	ENST00000433211.2	37		CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605161	0.87157	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8449	0.92202	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTNNA3	69036814	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.484000	0.81180	2.751000	0.94390	0.555000	0.69702	.		0.408	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	Intron	18	31	1	0	6.94344e-10	1	8.24534e-10	18	31				
AIM1	202	broad.mit.edu	37	6	107011755	107011755	+	Silent	SNP	C	C	A			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr6:107011755C>A	ENST00000369066.3	+	19	5518	c.5031C>A	c.(5029-5031)ggC>ggA	p.G1677G	AIM1_ENST00000535438.1_Silent_p.G496G	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGTCCGATGGCAGGATTTACA	0.443																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(5029-5031)ggC>ggA		absent in melanoma 1							110.0	107.0	108.0					6																	107011755		2203	4300	6503	SO:0001819	synonymous_variant	202						sugar binding	g.chr6:107011755C>A	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.5031C>A	6.37:g.107011755C>A						AIM1_ENST00000535438.1_Silent_p.G496G	p.G1677G	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	19	5518	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1677			Ricin B-type lectin.		Q6P2P0|Q9BTM3	Silent	SNP	ENST00000369066.3	37	c.5031C>A	CCDS34506.1																																																																																				0.443	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			4	84	1	0	1	1	1	4	84				
KMT2D	8085	broad.mit.edu	37	12	49427459	49427459	+	Silent	SNP	G	G	A			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr12:49427459G>A	ENST00000301067.7	-	39	11028	c.11029C>T	c.(11029-11031)Ctg>Ttg	p.L3677L	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3677	Gln-rich.				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)										TGTTGGGCCAGAGCTGTATTA	0.637																																						ENST00000301067.7																			0											c.(11029-11031)Ctg>Ttg		lysine (K)-specific methyltransferase 2D							52.0	58.0	56.0					12																	49427459		2014	4180	6194	SO:0001819	synonymous_variant	8085							g.chr12:49427459G>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.11029C>T	12.37:g.49427459G>A							p.L3677L	NM_003482.3	NP_003473.3					39	11028	-								O14687	Silent	SNP	ENST00000301067.7	37	c.11029C>T	CCDS44873.1																																																																																				0.637	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			30	62	0	0	0	1	0	30	62				
IQCG	84223	broad.mit.edu	37	3	197616452	197616452	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr3:197616452C>G	ENST00000265239.6	-	12	1755	c.1331G>C	c.(1330-1332)tGa>tCa	p.*444S	IQCG_ENST00000455191.1_Nonstop_Mutation_p.*444S	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	0						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		AGAACTTGGTCACTTCTTCTT	0.423																																						ENST00000265239.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1330-1332)tGa>tCa		IQ motif containing G							338.0	298.0	311.0					3																	197616452		2203	4300	6503	SO:0001578	stop_lost	84223							g.chr3:197616452C>G	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.1331G>C	3.37:g.197616452C>G						IQCG_ENST00000455191.1_Nonstop_Mutation_p.*444S	p.*444S	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	12	1755	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		0					Q9BST2|Q9HAG8	Nonstop_Mutation	SNP	ENST00000265239.6	37	c.1331G>C	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276230	0.40294	.	.	ENSG00000114473	ENST00000265239;ENST00000455191	.	.	.	5.21	2.42	0.29668	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0927	0.30809	0.0:0.7555:0.0:0.2445	.	.	.	.	S	444	.	.	X	-	2	2	IQCG	199100849	0.258000	0.24033	0.497000	0.27552	0.825000	0.46686	0.780000	0.26760	0.435000	0.26365	0.650000	0.86243	TGA		0.423	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		13	121	0	0	0	1	0	13	121				
AIMP1	9255	broad.mit.edu	37	4	107258085	107258085	+	Silent	SNP	A	A	G			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr4:107258085A>G	ENST00000442366.1	+	6	715	c.663A>G	c.(661-663)gtA>gtG	p.V221V	AIMP1_ENST00000358008.3_Silent_p.V221V|AIMP1_ENST00000394701.4_Silent_p.V245V	NM_001142415.1	NP_001135887.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	221	tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						TGAGGGGAGTATTATCTCAAG	0.388																																						ENST00000394701.4																			0				breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						c.(733-735)gtA>gtG		aminoacyl tRNA synthetase complex-interacting multifunctional protein 1							176.0	173.0	174.0					4																	107258085		2203	4300	6503	SO:0001819	synonymous_variant	9255				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding	g.chr4:107258085A>G	U10117	CCDS3674.1, CCDS47121.1	4q24	2009-05-20	2009-05-20	2009-05-20	ENSG00000164022	ENSG00000164022			10648	protein-coding gene	gene with protein product	"""EMAP II"", ""ARS-interacting multifunctional protein 1"""	603605	"""small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)"""	SCYE1		7929199, 7545917	Standard	NM_004757		Approved	EMAPII, EMAP-2, p43	uc011cfg.2	Q12904	OTTHUMG00000131217	ENST00000442366.1:c.663A>G	4.37:g.107258085A>G						AIMP1_ENST00000358008.3_Silent_p.V221V|AIMP1_ENST00000442366.1_Silent_p.V221V	p.V245V	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN			6	776	+			221			tRNA-binding.		B3KTR2|B4E1S7|Q6FG28|Q96CQ9	Silent	SNP	ENST00000442366.1	37	c.735A>G	CCDS3674.1																																																																																				0.388	AIMP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253961.1	NM_004757		4	113	0	0	0	1	0	4	113				
KRTAP4-12	83755	broad.mit.edu	37	17	39280324	39280324	+	Silent	SNP	C	C	A			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr17:39280324C>A	ENST00000394014.1	-	1	95	c.51G>T	c.(49-51)ctG>ctT	p.L17L		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	17	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCAGTTCTCCAGGCCACAGC	0.637																																						ENST00000394014.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(49-51)ctG>ctT		keratin associated protein 4-12							54.0	63.0	60.0					17																	39280324		2203	4296	6499	SO:0001819	synonymous_variant	83755					keratin filament		g.chr17:39280324C>A	AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"""Keratin associated proteins"""	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.51G>T	17.37:g.39280324C>A							p.L17L	NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	95	-		Breast(137;0.000496)	17			31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		A3KMC5|Q495I0	Silent	SNP	ENST00000394014.1	37	c.51G>T	CCDS32649.1																																																																																				0.637	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1			4	141	1	0	1	1	1	4	141				
LRP1B	53353	broad.mit.edu	37	2	141773335	141773335	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr2:141773335T>C	ENST00000389484.3	-	13	3091	c.2120A>G	c.(2119-2121)aAc>aGc	p.N707S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	707					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTATAATGTGTTGGTGTGAAA	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(2119-2121)aAc>aGc		low density lipoprotein receptor-related protein 1B							121.0	115.0	117.0					2																	141773335		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141773335T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2120A>G	2.37:g.141773335T>C	ENSP00000374135:p.Asn707Ser	TSP Lung(27;0.18)					p.N707S	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	13	3091	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	707					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2120A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	2.399	-0.338080	0.05278	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93488	-3.23	5.75	-0.429	0.12303	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.255418	0.36893	N	0.002358	T	0.79341	0.4429	N	0.03238	-0.38	0.21652	N	0.999602	B	0.02656	0.0	B	0.01281	0.0	T	0.65903	-0.6055	10	0.10636	T	0.68	.	10.1812	0.42968	0.0:0.435:0.0:0.5649	.	707	Q9NZR2	LRP1B_HUMAN	S	707;645	ENSP00000374135:N707S	ENSP00000374135:N707S	N	-	2	0	LRP1B	141489805	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	1.469000	0.35343	-0.021000	0.14009	0.528000	0.53228	AAC		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	61	0	0	0	1	0	6	61				
CTBP2	1488	broad.mit.edu	37	10	126683040	126683040	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr10:126683040G>T	ENST00000337195.5	-	7	1177	c.778C>A	c.(778-780)Cag>Aag	p.Q260K	CTBP2_ENST00000309035.6_Missense_Mutation_p.Q800K|CTBP2_ENST00000334808.6_Missense_Mutation_p.Q328K|CTBP2_ENST00000411419.2_Missense_Mutation_p.Q260K|CTBP2_ENST00000494626.2_Missense_Mutation_p.Q260K|CTBP2_ENST00000531469.1_Missense_Mutation_p.Q260K	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	260					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CAAATTACCTGCTTTATGGTA	0.488																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2398-2400)Cag>Aag		C-terminal binding protein 2							95.0	85.0	88.0					10																	126683040		2203	4300	6503	SO:0001583	missense	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126683040G>T	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.778C>A	10.37:g.126683040G>T	ENSP00000338615:p.Gln260Lys					CTBP2_ENST00000494626.2_Missense_Mutation_p.Q260K|CTBP2_ENST00000531469.1_Missense_Mutation_p.Q260K|CTBP2_ENST00000411419.2_Missense_Mutation_p.Q260K|CTBP2_ENST00000337195.5_Missense_Mutation_p.Q260K|CTBP2_ENST00000334808.6_Missense_Mutation_p.Q328K	p.Q800K	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	5	2528	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	260					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.2398C>A	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967859	0.74131	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.36	5.36	0.76844	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.67258	0.2874	N	0.05050	-0.12	0.80722	D	1	P;P;P	0.42692	0.787;0.585;0.787	B;P;B	0.45971	0.407;0.499;0.407	T	0.69221	-0.5202	10	0.30078	T	0.28	.	19.0895	0.93221	0.0:0.0:1.0:0.0	.	260;800;328	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	K	260;800;328;260;260;260	ENSP00000338615:Q260K;ENSP00000311825:Q800K;ENSP00000357816:Q328K;ENSP00000434630:Q260K;ENSP00000436285:Q260K;ENSP00000410474:Q260K	ENSP00000311825:Q800K	Q	-	1	0	CTBP2	126673030	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.509000	0.84616	0.561000	0.74099	CAG		0.488	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		3	31	1	0	0.115264	1	0.125144	3	31				
CORO7	79585	broad.mit.edu	37	16	4462417	4462417	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr16:4462417C>T	ENST00000251166.4	-	3	317	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	CORO7_ENST00000423908.2_Intron|CORO7_ENST00000539968.1_De_novo_Start_OutOfFrame|CORO7_ENST00000577144.1_5'UTR|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.V58M|CORO7_ENST00000537233.2_Missense_Mutation_p.V58M|CORO7_ENST00000574025.1_Missense_Mutation_p.V58M	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	58					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						TGCAGAGGCACAATGCCCAGT	0.587																																						ENST00000539968.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23								coronin 7							148.0	123.0	132.0					16																	4462417		2197	4300	6497	SO:0001583	missense	79585							g.chr16:4462417C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.172G>A	16.37:g.4462417C>T	ENSP00000251166:p.Val58Met					CORO7_ENST00000577144.1_5'UTR|CORO7_ENST00000574025.1_Missense_Mutation_p.V58M|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000537233.2_Missense_Mutation_p.V58M|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.V58M|CORO7_ENST00000251166.4_Missense_Mutation_p.V58M								0	294	-								B4DFD6|B4DL18|I3L416|Q17RK4	Translation_Start_Site	SNP	ENST00000251166.4	37		CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181003	0.57800	.	.	ENSG00000103426	ENST00000251166;ENST00000537233	T;T	0.68479	5.0;-0.33	5.22	3.25	0.37280	.	1.596220	0.03958	N	0.289648	T	0.68915	0.3053	M	0.62723	1.935	0.80722	D	1	B;P;B;P	0.46706	0.068;0.883;0.041;0.843	B;B;B;B	0.43508	0.028;0.422;0.013;0.351	T	0.57780	-0.7752	10	0.87932	D	0	-9.6793	8.5616	0.33514	0.0:0.8276:0.0:0.1724	.	58;58;58;39	P57737-2;B4DFD6;P57737;B4DKU9	.;.;CORO7_HUMAN;.	M	58	ENSP00000251166:V58M;ENSP00000440460:V58M	ENSP00000251166:V58M	V	-	1	0	CORO7	4402418	0.961000	0.32948	0.719000	0.30619	0.648000	0.38561	2.084000	0.41625	0.581000	0.29539	0.462000	0.41574	GTG		0.587	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		5	91	0	0	0	1	0	5	91				
ESR1	2099	broad.mit.edu	37	6	152415668	152415668	+	Silent	SNP	G	G	A			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr6:152415668G>A	ENST00000206249.3	+	7	1880	c.1518G>A	c.(1516-1518)caG>caA	p.Q506Q	ESR1_ENST00000338799.5_Silent_p.Q506Q|ESR1_ENST00000443427.1_Silent_p.Q506Q|ESR1_ENST00000440973.1_Silent_p.Q506Q|ESR1_ENST00000406599.1_Silent_p.Q245Q|ESR1_ENST00000427531.2_Intron|ESR1_ENST00000456483.2_Silent_p.Q394Q	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	506	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	GGCTGGCCCAGCTCCTCCTCA	0.562																																						ENST00000440973.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(1516-1518)caG>caA		estrogen receptor 1	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						50.0	47.0	48.0					6																	152415668		2203	4300	6503	SO:0001819	synonymous_variant	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152415668G>A	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1518G>A	6.37:g.152415668G>A						ESR1_ENST00000206249.3_Silent_p.Q506Q|ESR1_ENST00000443427.1_Silent_p.Q506Q|ESR1_ENST00000544394.1_Intron|ESR1_ENST00000406599.1_Silent_p.Q245Q|ESR1_ENST00000338799.5_Silent_p.Q506Q|ESR1_ENST00000456483.2_Silent_p.Q394Q	p.Q506Q	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	9	1888	+		Ovarian(120;0.0448)	506			Interaction with AKAP13.|Steroid-binding.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent	SNP	ENST00000206249.3	37	c.1518G>A	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	G	9.704	1.155237	0.21371	.	.	ENSG00000091831	ENST00000347491	.	.	.	5.5	1.74	0.24563	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4745	0.44657	0.2634:0.0:0.7366:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ESR1	152457361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.621000	0.46418	0.308000	0.22923	0.555000	0.69702	.		0.562	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			10	39	0	0	0	1	0	10	39				
NUDT17	200035	broad.mit.edu	37	1	145586928	145586928	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr1:145586928C>T	ENST00000334513.5	-	7	771	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	NUDT17_ENST00000444015.2_5'Flank	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	254							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGAGGTCGGGCTCTTCCATCC	0.527																																						ENST00000334513.5																			0				endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9						c.(760-762)Gcc>Acc		nudix (nucleoside diphosphate linked moiety X)-type motif 17							135.0	117.0	123.0					1																	145586928		2203	4300	6503	SO:0001583	missense	200035						hydrolase activity|metal ion binding	g.chr1:145586928C>T	BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"""Nudix motif containing"""	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.760G>A	1.37:g.145586928C>T	ENSP00000334437:p.Ala254Thr						p.A254T	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN			7	771	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		254						Missense_Mutation	SNP	ENST00000334513.5	37	c.760G>A	CCDS30830.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709644	0.30322	.	.	ENSG00000186364	ENST00000334513	.	.	.	4.89	-2.77	0.05877	.	1.090450	0.06909	N	0.807224	T	0.08313	0.0207	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23332	-1.0191	9	0.20046	T	0.44	-0.0769	1.4242	0.02319	0.1453:0.2847:0.1424:0.4276	.	254	P0C025	NUD17_HUMAN	T	254	.	ENSP00000334437:A254T	A	-	1	0	NUDT17	144298285	0.000000	0.05858	0.000000	0.03702	0.474000	0.32979	-0.750000	0.04808	-0.821000	0.04312	0.650000	0.86243	GCC		0.527	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038541.3	XM_496395		45	81	0	0	0	1	0	45	81				
PPT2	9374	broad.mit.edu	37	6	32122382	32122382	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr6:32122382T>G	ENST00000324816.6	+	2	579	c.11T>G	c.(10-12)cTc>cGc	p.L4R	PPT2_ENST00000437001.2_5'UTR|PPT2_ENST00000375137.2_Missense_Mutation_p.L4R|PRRT1_ENST00000211413.5_5'Flank|PPT2_ENST00000445576.2_Missense_Mutation_p.L4R|PPT2_ENST00000361568.2_Missense_Mutation_p.L10R|PPT2_ENST00000493548.1_3'UTR|PRRT1_ENST00000375152.2_5'Flank|PRRT1_ENST00000375150.2_5'Flank|PPT2_ENST00000395523.1_Missense_Mutation_p.L4R|PPT2-EGFL8_ENST00000422437.1_Missense_Mutation_p.L4R|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000375143.2_Missense_Mutation_p.L4R			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	4					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						ATGCTGGGGCTCTGCGGGCAG	0.677																																						ENST00000422437.1																			0											c.(10-12)cTc>cGc									127.0	154.0	144.0					6																	32122382		1508	2703	4211	SO:0001583	missense	0							g.chr6:32122382T>G	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.11T>G	6.37:g.32122382T>G	ENSP00000320528:p.Leu4Arg					PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000361568.2_Missense_Mutation_p.L10R|PPT2_ENST00000324816.6_Missense_Mutation_p.L4R|PPT2_ENST00000375137.2_Missense_Mutation_p.L4R|PPT2_ENST00000395523.1_Missense_Mutation_p.L4R|PPT2_ENST00000375143.2_Missense_Mutation_p.L4R|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000445576.2_Missense_Mutation_p.L4R|PPT2_ENST00000437001.2_5'UTR	p.L4R							2	202	+								A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Missense_Mutation	SNP	ENST00000324816.6	37	c.11T>G	CCDS4742.1	.	.	.	.	.	.	.	.	.	.	T	12.91	2.080505	0.36662	.	.	ENSG00000221988	ENST00000414204;ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000375137;ENST00000375143;ENST00000424499;ENST00000436118;ENST00000453656	T;D;D;D;D;D;D;D;T	0.93488	1.23;-3.12;-3.08;-3.23;-3.08;-3.08;-3.08;-2.05;0.84	4.74	2.23	0.28157	.	0.869350	0.10074	N	0.719316	T	0.70254	0.3203	N	0.08118	0	0.80722	D	1	B;B;P	0.37864	0.0;0.346;0.61	B;B;B	0.26517	0.001;0.07;0.07	T	0.68515	-0.5388	10	0.49607	T	0.09	3.4135	5.0095	0.14304	0.0:0.0983:0.1854:0.7163	.	4;4;10	Q9UMR5-2;Q9UMR5;B0S872	.;PPT2_HUMAN;.	R	4;10;4;4;4;4;4;4;4;4	ENSP00000398847:L4R;ENSP00000354608:L10R;ENSP00000378894:L4R;ENSP00000412381:L4R;ENSP00000320528:L4R;ENSP00000364279:L4R;ENSP00000364285:L4R;ENSP00000409877:L4R;ENSP00000395456:L4R	ENSP00000320528:L4R	L	+	2	0	PPT2	32230360	0.531000	0.26338	0.677000	0.29947	0.591000	0.36615	0.440000	0.21592	0.812000	0.34326	0.402000	0.26972	CTC		0.677	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717		89	153	0	0	0	1	0	89	153				
CELSR3	1951	broad.mit.edu	37	3	48697526	48697526	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr3:48697526T>A	ENST00000164024.4	-	1	2822	c.2542A>T	c.(2542-2544)Atc>Ttc	p.I848F	CELSR3_ENST00000544264.1_Missense_Mutation_p.I848F	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	848	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCATCTGTGATGTTGATGTGC	0.507																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(2542-2544)Atc>Ttc		cadherin, EGF LAG seven-pass G-type receptor 3							206.0	192.0	197.0					3																	48697526		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48697526T>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2542A>T	3.37:g.48697526T>A	ENSP00000164024:p.Ile848Phe					CELSR3_ENST00000164024.4_Missense_Mutation_p.I848F	p.I848F			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	2822	-			848			Cadherin 5.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.2542A>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452290	0.63290	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.58940	0.3;0.3	5.67	5.67	0.87782	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.79992	0.4542	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.80764	0.992;0.994	D	0.84202	0.0451	9	0.87932	D	0	.	15.9043	0.79412	0.0:0.0:0.0:1.0	.	848;918	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	F	848	ENSP00000164024:I848F;ENSP00000445694:I848F	ENSP00000164024:I848F	I	-	1	0	CELSR3	48672530	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.482000	0.53186	2.169000	0.68431	0.459000	0.35465	ATC		0.507	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		6	114	0	0	0	1	0	6	114				
KAT6A	7994	broad.mit.edu	37	8	41792173	41792173	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr8:41792173T>A	ENST00000396930.3	-	18	4108	c.3565A>T	c.(3565-3567)Att>Ttt	p.I1189F	KAT6A_ENST00000265713.2_Missense_Mutation_p.I1189F|KAT6A_ENST00000406337.1_Missense_Mutation_p.I1189F	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1189					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ATGGGCTCAATGACGCATGCT	0.478																																						ENST00000396930.3																			0											c.(3565-3567)Att>Ttt		K(lysine) acetyltransferase 6A							167.0	159.0	162.0					8																	41792173		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41792173T>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3565A>T	8.37:g.41792173T>A	ENSP00000380136:p.Ile1189Phe					KAT6A_ENST00000265713.2_Missense_Mutation_p.I1189F|KAT6A_ENST00000406337.1_Missense_Mutation_p.I1189F	p.I1189F	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	4108	-			1189					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.3565A>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	2.097	-0.407007	0.04832	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.59364	0.27;0.27;0.27	5.95	0.209	0.15226	.	1.061000	0.07250	N	0.865673	T	0.32793	0.0841	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.17433	0.018	T	0.24621	-1.0155	10	0.56958	D	0.05	-1.6417	1.9672	0.03398	0.1268:0.35:0.1243:0.3988	.	1189	Q92794	KAT6A_HUMAN	F	1189	ENSP00000265713:I1189F;ENSP00000385888:I1189F;ENSP00000380136:I1189F	ENSP00000265713:I1189F	I	-	1	0	KAT6A	41911330	0.000000	0.05858	0.015000	0.15790	0.001000	0.01503	-1.134000	0.03228	0.010000	0.14839	-0.242000	0.12053	ATT		0.478	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		34	76	0	0	0	1	0	34	76				
BPIFA1	51297	broad.mit.edu	37	20	31825610	31825610	+	Silent	SNP	C	C	A	rs377416490		TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr20:31825610C>A	ENST00000354297.4	+	2	164	c.93C>A	c.(91-93)acC>acA	p.T31T	BPIFA1_ENST00000375422.2_Silent_p.T31T|BPIFA1_ENST00000375413.4_Silent_p.T31T	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	31					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										TGGACCAGACCCTGCCCTTGA	0.557																																						ENST00000354297.4																			0											c.(91-93)acC>acA		BPI fold containing family A, member 1							93.0	89.0	90.0					20																	31825610		2203	4300	6503	SO:0001819	synonymous_variant	51297				innate immune response	extracellular region	lipid binding	g.chr20:31825610C>A	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.93C>A	20.37:g.31825610C>A						BPIFA1_ENST00000375422.2_Silent_p.T31T|BPIFA1_ENST00000375413.4_Silent_p.T31T	p.T31T	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN			2	164	+			31					A8K9R3|E1P5M9|Q9NZT0	Silent	SNP	ENST00000354297.4	37	c.93C>A	CCDS13217.1																																																																																				0.557	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		4	78	1	0	0.00909568	1	0.0101658	4	78				
DNAH17	8632	broad.mit.edu	37	17	76457692	76457692	+	Silent	SNP	G	G	C	rs548700594	byFrequency	TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr17:76457692G>C	ENST00000585328.1	-	58	9382	c.9258C>G	c.(9256-9258)gcC>gcG	p.A3086A	DNAH17_ENST00000389840.5_Silent_p.A3077A|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3077	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGACCTTCTCGGCCTCGATGC	0.537																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(9229-9231)gcC>gcG		dynein, axonemal, heavy chain 17							111.0	75.0	87.0					17																	76457692		2203	4300	6503	SO:0001819	synonymous_variant	8632							g.chr17:76457692G>C	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9258C>G	17.37:g.76457692G>C						DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.A3086A	p.A3077A					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		58	9355	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.9231C>G																																																																																					0.537	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		7	11	0	0	0	1	0	7	11				
TXNDC2	84203	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000357775.5_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547																																						ENST00000306084.6																			4	Substitution - Missense(4)	p.K140E(2)|p.K73E(2)	urinary_tract(2)|lung(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(418-420)Aaa>Gaa		thioredoxin domain containing 2 (spermatozoa)							133.0	131.0	132.0					18																	9886894		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886894A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.418A>G	18.37:g.9886894A>G	ENSP00000304908:p.Lys140Glu					TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E	p.K140E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	617	+			140			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.418A>G	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	a	8.625	0.892206	0.17613	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.20069	2.1;2.3;2.3	3.48	-6.96	0.01622	.	1.199930	0.06365	N	0.712409	T	0.12774	0.0310	L	0.35854	1.095	0.09310	N	1	B	0.25048	0.117	B	0.25884	0.064	T	0.32693	-0.9897	9	.	.	.	.	5.8007	0.18412	0.5013:0.2415:0.2572:0.0	.	140	Q86VQ3	TXND2_HUMAN	E	73;73;140;140	ENSP00000437393:K73E;ENSP00000350419:K73E;ENSP00000304908:K140E	.	K	+	1	0	TXNDC2	9876894	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.892000	0.04131	-1.042000	0.03262	-1.380000	0.01176	AAA		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			4	155	0	0	0	1	0	4	155				
EXD3	54932	broad.mit.edu	37	9	140247218	140247218	+	Silent	SNP	C	C	A	rs539438670		TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr9:140247218C>A	ENST00000340951.4	-	11	1086	c.891G>T	c.(889-891)ccG>ccT	p.P297P	EXD3_ENST00000342129.4_5'UTR	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CCTGAAGCCACGGGCTCTGCC	0.677																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(889-891)ccG>ccT		exonuclease 3'-5' domain containing 3							8.0	11.0	10.0					9																	140247218		2034	4147	6181	SO:0001819	synonymous_variant	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140247218C>A		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.891G>T	9.37:g.140247218C>A						EXD3_ENST00000342129.4_5'UTR	p.P297P	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			11	1086	-			297					Q6P1M1|Q8IXT8	Silent	SNP	ENST00000340951.4	37	c.891G>T	CCDS48066.1																																																																																				0.677	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		4	5	1	0	1	1	1	4	5				
DMC1	11144	broad.mit.edu	37	22	38945974	38945974	+	Silent	SNP	G	G	T			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr22:38945974G>T	ENST00000216024.2	-	8	726	c.450C>A	c.(448-450)ggC>ggA	p.G150G	DMC1_ENST00000428462.2_Intron	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	150			G -> D (in dbSNP:rs58396845).		female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					CTCCTGGGTAGCCACCAGCTC	0.318								Homologous recombination																														ENST00000216024.2																			0				large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(448-450)ggC>ggA	Homologous recombination	DNA meiotic recombinase 1							40.0	40.0	40.0					22																	38945974		2203	4298	6501	SO:0001819	synonymous_variant	11144				reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr22:38945974G>T	D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"""DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination"", ""DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"""			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.450C>A	22.37:g.38945974G>T						DMC1_ENST00000428462.2_Intron	p.G150G	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN			8	726	-	Melanoma(58;0.0286)		150		G -> D (in dbSNP:rs58396845).			A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Silent	SNP	ENST00000216024.2	37	c.450C>A	CCDS13973.1																																																																																				0.318	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	NM_007068		8	13	1	0	1.76689e-08	1	2.0346e-08	8	13				
ANKRD36	375248	broad.mit.edu	37	2	97867947	97867947	+	Missense_Mutation	SNP	C	C	G	rs10203570		TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr2:97867947C>G	ENST00000461153.2	+	47	3110	c.2866C>G	c.(2866-2868)Cag>Gag	p.Q956E	ANKRD36_ENST00000420699.2_Missense_Mutation_p.Q956E			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	956										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGTGTCTTCTCAGAAACCACC	0.343																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2866-2868)Cag>Gag		ankyrin repeat domain 36							116.0	117.0	117.0					2																	97867947		692	1591	2283	SO:0001583	missense	375248							g.chr2:97867947C>G	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2866C>G	2.37:g.97867947C>G	ENSP00000419530:p.Gln956Glu					ANKRD36_ENST00000461153.2_Missense_Mutation_p.Q956E	p.Q956E	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			47	3110	+			956					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2866C>G	CCDS54379.1	79	0.036172161172161175	61	0.12398373983739837	3	0.008287292817679558	14	0.024475524475524476	1	0.0013192612137203166	.	3.010	-0.204111	0.06180	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.78246	-1.16;-1.16	0.673	-1.35	0.09114	.	.	.	.	.	T	0.01222	0.0040	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.02933	-1.1092	8	0.05436	T	0.98	.	.	.	.	rs10203570	956	A6QL64	AN36A_HUMAN	E	956;956;318	ENSP00000419530:Q956E;ENSP00000391950:Q956E	ENSP00000391950:Q956E	Q	+	1	0	ANKRD36	97231674	0.627000	0.27129	0.020000	0.16555	0.034000	0.12701	0.091000	0.15046	-0.447000	0.07138	0.175000	0.17021	CAG		0.343	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			3	38	0	0	0	1	0	3	38				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	46	0	0	0	1	0	25	46				
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGCGCAGGCCAACACTCACTG	0.617																																						ENST00000414583.2																			0																																																			0							g.chr22:24659578A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659578A>G								NR_003714.1						0	3103	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.617	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	21	0	0	0	1	0	3	21				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	40	0	0	0	1	0	4	40				
EGFL8	80864	broad.mit.edu	37	6	32134984	32134984	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr6:32134984T>C	ENST00000395512.1	+	6	656	c.551T>C	c.(550-552)aTg>aCg	p.M184T	EGFL8_ENST00000333845.6_Missense_Mutation_p.M184T|AGPAT1_ENST00000490711.1_5'Flank|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	184	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CGCACCTGCATGGAGGGGTCC	0.662																																						ENST00000395512.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(550-552)aTg>aCg		EGF-like-domain, multiple 8							38.0	44.0	42.0					6																	32134984		1509	2707	4216	SO:0001583	missense	80864					extracellular region|integral to membrane	calcium ion binding	g.chr6:32134984T>C	U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"""chromosome 6 open reading frame 8"""	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.551T>C	6.37:g.32134984T>C	ENSP00000378888:p.Met184Thr					PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.M184T	p.M184T			Q99944	EGFL8_HUMAN			6	656	+			184			EGF-like 2; calcium-binding (Potential).		B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Missense_Mutation	SNP	ENST00000395512.1	37	c.551T>C	CCDS4743.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.649762	0.00785	.	.	ENSG00000241404	ENST00000333845;ENST00000395512;ENST00000432129	T;T;T	0.77098	-1.07;-1.07;2.19	5.21	-2.49	0.06403	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.15825	0.0381	N	0.01015	-1.05	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15636	-1.0430	9	0.14656	T	0.56	0.1282	0.695	0.00897	0.2529:0.2907:0.1145:0.3419	.	184	Q99944	EGFL8_HUMAN	T	184;184;164	ENSP00000333380:M184T;ENSP00000378888:M184T;ENSP00000401694:M164T	ENSP00000333380:M184T	M	+	2	0	EGFL8	32242962	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.670000	0.05256	-0.584000	0.05913	-2.721000	0.00131	ATG		0.662	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3	NM_030652		23	44	0	0	0	1	0	23	44				
CPM	1368	broad.mit.edu	37	12	69279639	69279639	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr12:69279639C>T	ENST00000551568.1	-	3	251	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	CPM_ENST00000338356.3_Missense_Mutation_p.R64Q|CPM_ENST00000546373.1_Missense_Mutation_p.R64Q	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	64					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CTTTGGAAACCGCCCCACAAC	0.398																																						ENST00000551568.1																			0				large_intestine(1)|lung(6)|prostate(2)	9						c.(190-192)cGg>cAg		carboxypeptidase M							142.0	137.0	139.0					12																	69279639		2203	4300	6503	SO:0001583	missense	1368				anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	g.chr12:69279639C>T	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"""renal carboxypeptidase"", ""urinary carboxypeptidase B"""	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.191G>A	12.37:g.69279639C>T	ENSP00000448517:p.Arg64Gln					CPM_ENST00000546373.1_Missense_Mutation_p.R64Q|CPM_ENST00000338356.3_Missense_Mutation_p.R64Q	p.R64Q	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		3	251	-	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		64					B2R800|Q9H2K9	Missense_Mutation	SNP	ENST00000551568.1	37	c.191G>A	CCDS8987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.20|12.20	1.866577|1.866577	0.32977|0.32977	.|.	.|.	ENSG00000135678|ENSG00000135678	ENST00000549781|ENST00000551568;ENST00000338356;ENST00000546373;ENST00000548954;ENST00000548262	T|T;T;T;T;T	0.30182|0.03330	1.54|3.97;3.97;3.97;3.97;3.97	4.99|4.99	3.0|3.0	0.34707|0.34707	.|Peptidase M14, carboxypeptidase A (2);	.|0.413525	.|0.24583	.|N	.|0.037286	T|T	0.03434|0.03434	0.0099|0.0099	L|L	0.41824|0.41824	1.3|1.3	0.09310|0.09310	N|N	1|1	.|B	.|0.17852	.|0.024	.|B	.|0.10450	.|0.005	T|T	0.40887|0.40887	-0.9539|-0.9539	6|9	.|.	.|.	.|.	-5.4059|-5.4059	7.1859|7.1859	0.25799|0.25799	0.0:0.7295:0.0:0.2705|0.0:0.7295:0.0:0.2705	.|.	.|64	.|P14384	.|CBPM_HUMAN	S|Q	63|64	ENSP00000448078:G63S|ENSP00000448517:R64Q;ENSP00000339157:R64Q;ENSP00000447255:R64Q;ENSP00000446799:R64Q;ENSP00000449911:R64Q	.|.	G|R	-|-	1|2	0|0	CPM|CPM	67565906|67565906	0.159000|0.159000	0.22864|0.22864	0.212000|0.212000	0.23672|0.23672	0.913000|0.913000	0.54294|0.54294	1.001000|1.001000	0.29783|0.29783	1.103000|1.103000	0.41568|0.41568	0.563000|0.563000	0.77884|0.77884	GGT|CGG		0.398	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320		41	66	0	0	0	1	0	41	66				
CDK19	23097	broad.mit.edu	37	6	110935828	110935828	+	Silent	SNP	T	T	C			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr6:110935828T>C	ENST00000368911.3	-	13	1598	c.1419A>G	c.(1417-1419)ggA>ggG	p.G473G	CDK19_ENST00000323817.3_Silent_p.G413G|CDK19_ENST00000413605.2_Silent_p.G349G	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	473	Ser-rich.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						ACTGAGAGGATCCCTGAACGC	0.537																																						ENST00000368911.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						c.(1417-1419)ggA>ggG		cyclin-dependent kinase 19							156.0	137.0	143.0					6																	110935828		2203	4300	6503	SO:0001819	synonymous_variant	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110935828T>C	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.1419A>G	6.37:g.110935828T>C						CDK19_ENST00000323817.3_Silent_p.G413G|CDK19_ENST00000413605.2_Silent_p.G349G	p.G473G	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN			13	1598	-			473			Ser-rich.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Silent	SNP	ENST00000368911.3	37	c.1419A>G	CCDS5085.1																																																																																				0.537	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		25	50	0	0	0	1	0	25	50				
CNNM4	26504	broad.mit.edu	37	2	97427918	97427918	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr2:97427918delC	ENST00000377075.2	+	1	1280	c.1182delC	c.(1180-1182)ttcfs	p.F394fs		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	394	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TCCTGGACTTCAACACCATGT	0.502																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(1180-1182)ttfs		cyclin M4							107.0	95.0	99.0					2																	97427918		2203	4300	6503	SO:0001589	frameshift_variant	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427918delC	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1182delC	2.37:g.97427918delC	ENSP00000366275:p.Phe394fs						p.F394fs	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			1	1280	+			394			CBS 1.		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Frame_Shift_Del	DEL	ENST00000377075.2	37	c.1182delC	CCDS2024.2																																																																																				0.502	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		25	44						25	44	---	---	---	---
MAFK	7975	broad.mit.edu	37	7	1579674	1579674	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr7:1579674delC	ENST00000343242.4	+	3	363	c.134delC	c.(133-135)accfs	p.T45fs		NM_002360.3	NP_002351.1	O60675	MAFK_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K	45					blood coagulation (GO:0007596)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15)		CGGGGTCTCACCAAGGAGGAG	0.662																																						ENST00000343242.4																			0											c.(133-135)acfs		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K							30.0	27.0	28.0					7																	1579674		2169	4264	6433	SO:0001589	frameshift_variant	7975				blood coagulation	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:1579674delC	AF059194	CCDS5325.1	7p22	2013-07-09	2013-07-09		ENSG00000198517	ENSG00000198517			6782	protein-coding gene	gene with protein product	"""basic-leucine zipper transcription factor MafK"", ""erythroid transcription factor NF-E2 p18 subunit"", ""nuclear factor erythroid-2, ubiquitous (p18)"""	600197				9763667	Standard	XM_005249851		Approved	P18, NFE2U	uc003skr.3	O60675	OTTHUMG00000151453	ENST00000343242.4:c.134delC	7.37:g.1579674delC	ENSP00000344903:p.Thr45fs						p.T45fs	NM_002360.3	NP_002351.1	O60675	MAFK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15)	3	363	+		Ovarian(82;0.0253)	45					A4D214	Frame_Shift_Del	DEL	ENST00000343242.4	37	c.134delC	CCDS5325.1																																																																																				0.662	MAFK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322712.1	NM_002360		2	4						2	4	---	---	---	---
PMS2P4	5382	broad.mit.edu	37	7	66762433	66762433	+	RNA	DEL	A	A	-	rs530279026	byFrequency	TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr7:66762433delA	ENST00000414507.1	-	0	184				Y_RNA_ENST00000364695.1_RNA					postmeiotic segregation increased 2 pseudogene 4																		tctcaaaaagaaaaaaaaaaa	0.408													|||unknown(HR)	2771	0.553315	0.6127	0.5648	5008	,	,		17205	0.5159		0.5129	False		,,,				2504	0.545					ENST00000414507.1																			0																																																			0							g.chr7:66762433delA	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66762433delA														0	184	-									RNA	DEL	ENST00000414507.1	37																																																																																						0.408	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		6	2						6	2	---	---	---	---
STEAP2-AS1	100874100	broad.mit.edu	37	7	89748927	89748928	+	RNA	INS	-	-	C	rs58370593	byFrequency	TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr7:89748927_89748928insC	ENST00000478318.2	-	0	424				RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA					STEAP2 antisense RNA 1																		GGTGCGGGCCTCCCCCTTCCCC	0.639													?|CCCCC|CCCCCC|unsure	3349	0.66873	0.7171	0.621	5008	,	,		14308	0.8095		0.5199	False		,,,				2504	0.6452					ENST00000478318.2																			0																																																			0							g.chr7:89748927_89748928insC			7q21.13	2012-10-12	2012-08-15		ENSG00000227646	ENSG00000227646		"""Long non-coding RNAs"""	40820	non-coding RNA	RNA, long non-coding			"""STEAP2 antisense RNA 1 (non-protein coding)"""				Standard	NR_110029		Approved				OTTHUMG00000065036		7.37:g.89748932_89748932dupC						RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA								0	424	-									RNA	INS	ENST00000478318.2	37																																																																																						0.639	STEAP2-AS1-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000350909.2			6	3						6	3	---	---	---	---
GBA2	57704	broad.mit.edu	37	9	35752094	35752103	+	5'Flank	DEL	TCCCTCCCAA	TCCCTCCCAA	-	rs182043770		TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr9:35752094_35752103delTCCCTCCCAA	ENST00000378103.3	-	0	0				GBA2_ENST00000378094.4_5'Flank|RGP1_ENST00000378078.4_Frame_Shift_Del_p.SLPI302fs|RGP1_ENST00000456972.2_Frame_Shift_Del_p.SLPI342fs|MSMP_ENST00000414286.1_5'Flank|GBA2_ENST00000545786.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AACCAGCTTCTCCCTCCCAATCCCTCTCAG	0.581																																						ENST00000378078.4																			0				cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(904-915)tcfs		RGP1 retrograde golgi transport homolog (S. cerevisiae)																																				SO:0001631	upstream_gene_variant	9827							g.chr9:35752094_35752103delTCCCTCCCAA	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35752094_35752103delTCCCTCCCAA	Exception_encountered					RGP1_ENST00000456972.2_Frame_Shift_Del_p.SLPI342fs	p.SLPI302fs	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		8	1045_1054	+	all_epithelial(49;0.167)		302					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Frame_Shift_Del	DEL	ENST00000378103.3	37	c.904_913delTCCCTCCCAA	CCDS6589.1																																																																																				0.581	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		11	18						11	18	---	---	---	---
HHIPL1	84439	broad.mit.edu	37	14	100125953	100125953	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr14:100125953delG	ENST00000330710.5	+	4	1333	c.1235delG	c.(1234-1236)cgcfs	p.R412fs	HHIPL1_ENST00000357223.2_Frame_Shift_Del_p.R412fs	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	412					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GGCACTGGCCGCGGGCGCCTC	0.726																																						ENST00000330710.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(1234-1236)ccfs		HHIP-like 1							4.0	6.0	5.0					14																	100125953		2060	4068	6128	SO:0001589	frameshift_variant	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100125953delG	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1235delG	14.37:g.100125953delG	ENSP00000330601:p.Arg412fs					HHIPL1_ENST00000357223.2_Frame_Shift_Del_p.R412fs	p.R412fs	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN			4	1333	+		Melanoma(154;0.128)	412					A2RUF8|B2RN09|Q6UXX2	Frame_Shift_Del	DEL	ENST00000330710.5	37	c.1235delG	CCDS45162.1																																																																																				0.726	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		2	4						2	4	---	---	---	---
