#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
SHC3	53358	broad.mit.edu	37	9	91727511	91727511	+	Missense_Mutation	SNP	T	T	C	rs200962607		TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr9:91727511T>C	ENST00000375835.4	-	2	811	c.505A>G	c.(505-507)Atg>Gtg	p.M169V	RP11-82L18.2_ENST00000429700.1_RNA|SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	169	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AGAGACCTCATTGAGCGCAGA	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		19619	0.001		0.0	False		,,,				2504	0.0					ENST00000375835.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						c.(505-507)Atg>Gtg		SHC (Src homology 2 domain containing) transforming protein 3							108.0	101.0	104.0					9																	91727511		2203	4299	6502	SO:0001583	missense	53358				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	g.chr9:91727511T>C	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.505A>G	9.37:g.91727511T>C	ENSP00000364995:p.Met169Val					SHC3_ENST00000375830.1_5'UTR	p.M169V	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN			2	811	-			169			PID.		Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	ENST00000375835.4	37	c.505A>G	CCDS6681.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	19.75	3.885554	0.72410	.	.	ENSG00000148082	ENST00000375835	T	0.14391	2.51	4.96	4.96	0.65561	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	M	0.89840	3.065	0.80722	D	1	D	0.62365	0.991	D	0.81914	0.995	T	0.52064	-0.8625	10	0.87932	D	0	-18.8731	12.2544	0.54615	0.0:0.0:0.0:1.0	.	169	Q92529	SHC3_HUMAN	V	169	ENSP00000364995:M169V	ENSP00000364995:M169V	M	-	1	0	SHC3	90917331	1.000000	0.71417	0.970000	0.41538	0.983000	0.72400	5.743000	0.68655	2.099000	0.63709	0.482000	0.46254	ATG		0.413	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		9	61	0	0	0	1	0	9	61				
ESPNP	284729	broad.mit.edu	37	1	17023403	17023403	+	RNA	SNP	G	G	A	rs10907267	byFrequency	TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr1:17023403G>A	ENST00000492551.1	-	0	1544					NR_026567.1				espin pseudogene																		GGAACATCACGTTGAAAGACT	0.622													g|||	1575	0.314497	0.1225	0.3573	5008	,	,		39681	0.4563		0.332	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			0							g.chr1:17023403G>A	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023403G>A								NR_026567.1						0	1544	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.622	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			3	14	0	0	0	1	0	3	14				
ENOPH1	58478	broad.mit.edu	37	4	83378116	83378116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr4:83378116G>T	ENST00000273920.3	+	5	839	c.571G>T	c.(571-573)Gaa>Taa	p.E191*	ENOPH1_ENST00000509635.1_Nonsense_Mutation_p.E103*	NM_021204.3	NP_067027.1			enolase-phosphatase 1											central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						AGTAGAGAGTGAAAGTTACCG	0.403																																						ENST00000273920.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						c.(571-573)Gaa>Taa		enolase-phosphatase 1							173.0	163.0	166.0					4																	83378116		2203	4300	6503	SO:0001587	stop_gained	58478				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity	g.chr4:83378116G>T		CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"""Enolase-phosphatase E1"", ""acireductone synthase"""					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.571G>T	4.37:g.83378116G>T	ENSP00000273920:p.Glu191*					ENOPH1_ENST00000509635.1_Nonsense_Mutation_p.E103*	p.E191*	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN			5	839	+			191						Nonsense_Mutation	SNP	ENST00000273920.3	37	c.571G>T	CCDS3594.1	.	.	.	.	.	.	.	.	.	.	g	39	7.332433	0.98217	.	.	ENSG00000145293	ENST00000273920;ENST00000456931;ENST00000509635	.	.	.	5.37	5.37	0.77165	.	0.099847	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-24.1263	12.7929	0.57545	0.0754:0.0:0.9246:0.0	.	.	.	.	X	191;191;103	.	ENSP00000273920:E191X	E	+	1	0	ENOPH1	83597140	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.127000	0.64727	2.672000	0.90937	0.585000	0.79938	GAA		0.403	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252638.2	NM_021204		6	64	1	0	5.4927e-09	1	6.69842e-09	6	64				
CCDC40	55036	broad.mit.edu	37	17	78022497	78022497	+	Silent	SNP	C	C	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr17:78022497C>A	ENST00000397545.4	+	5	819	c.792C>A	c.(790-792)tcC>tcA	p.S264S	CCDC40_ENST00000374877.3_Silent_p.S264S|CCDC40_ENST00000374876.4_Silent_p.S264S|CCDC40_ENST00000269318.5_Silent_p.S264S	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	264					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGTGGAGTCCGAGGGGAGTG	0.607																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(790-792)tcC>tcA		coiled-coil domain containing 40							80.0	104.0	96.0					17																	78022497		2045	4181	6226	SO:0001819	synonymous_variant	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78022497C>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.792C>A	17.37:g.78022497C>A						CCDC40_ENST00000269318.5_Silent_p.S264S|CCDC40_ENST00000374877.3_Silent_p.S264S|CCDC40_ENST00000374876.4_Silent_p.S264S	p.S264S	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		5	819	+	all_neural(118;0.167)		264					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	c.792C>A	CCDS42395.1																																																																																				0.607	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		6	27	1	0	0.0215528	1	0.0215528	6	27				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		5	61	0	0	0	1	0	5	61				
CNPY2	10330	broad.mit.edu	37	12	56705040	56705040	+	Silent	SNP	T	T	C			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr12:56705040T>C	ENST00000273308.4	-	4	903	c.363A>G	c.(361-363)caA>caG	p.Q121Q	RP11-977G19.10_ENST00000549318.1_Silent_p.Q121Q|RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.11_ENST00000549565.1_RNA|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.12_ENST00000546789.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	121	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						TTCGGATGCCTTGTAGGTCCA	0.507																																						ENST00000273308.4																			0				large_intestine(2)|lung(2)	4						c.(361-363)caA>caG		canopy FGF signaling regulator 2							241.0	225.0	231.0					12																	56705040		2203	4300	6503	SO:0001819	synonymous_variant	10330					endoplasmic reticulum|integral to plasma membrane	protein binding	g.chr12:56705040T>C	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.363A>G	12.37:g.56705040T>C						RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.10_ENST00000549318.1_Silent_p.Q121Q|RP11-977G19.11_ENST00000549565.1_RNA	p.Q121Q	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN			4	903	-			121			Saposin B-type.		B2R7B9|Q9UHE9	Silent	SNP	ENST00000273308.4	37	c.363A>G	CCDS8914.1																																																																																				0.507	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		26	136	0	0	0	1	0	26	136				
MUC2	4583	broad.mit.edu	37	11	1083190	1083190	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr11:1083190G>T	ENST00000441003.2	+	16	2117	c.2090G>T	c.(2089-2091)gGc>gTc	p.G697V	MUC2_ENST00000359061.5_Missense_Mutation_p.G697V	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	697					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCTGTGGACGGCTGCGGCTGC	0.667																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(2089-2091)gGc>gTc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						25.0	30.0	29.0					11																	1083190		2041	4164	6205	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1083190G>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2090G>T	11.37:g.1083190G>T	ENSP00000415183:p.Gly697Val					MUC2_ENST00000359061.5_Missense_Mutation_p.G697V	p.G697V	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	16	2117	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	697					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.2090G>T		.	.	.	.	.	.	.	.	.	.	g	14.21	2.468707	0.43839	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	D;D	0.83673	-1.75;-1.75	4.49	4.49	0.54785	.	0.000000	0.64402	D	0.000003	D	0.93347	0.7879	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95200	0.8316	10	0.87932	D	0	.	17.3535	0.87329	0.0:0.0:1.0:0.0	.	697	E7EUV1	.	V	697	ENSP00000415183:G697V;ENSP00000351956:G697V	ENSP00000351956:G697V	G	+	2	0	MUC2	1073190	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	9.370000	0.97159	2.334000	0.79466	0.556000	0.70494	GGC		0.667	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		4	23	1	0	0.00198382	1	0.00215632	4	23				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	38	0	0	0	1	0	4	38				
CHD1	1105	broad.mit.edu	37	5	98215342	98215342	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr5:98215342G>A	ENST00000284049.3	-	22	3300	c.3151C>T	c.(3151-3153)Caa>Taa	p.Q1051*		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1051					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CGTCTTCTTTGATCTTCTGGA	0.338																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(3151-3153)Caa>Taa		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						109.0	102.0	104.0					5																	98215342		2203	4296	6499	SO:0001587	stop_gained	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98215342G>A	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3151C>T	5.37:g.98215342G>A	ENSP00000284049:p.Gln1051*						p.Q1051*	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	22	3300	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1051					Q17RZ3	Nonsense_Mutation	SNP	ENST00000284049.3	37	c.3151C>T	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	G	43	10.041713	0.99324	.	.	ENSG00000153922	ENST00000284049	.	.	.	5.39	5.39	0.77823	.	0.000000	0.32987	U	0.005417	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	19.5293	0.95222	0.0:0.0:1.0:0.0	.	.	.	.	X	1051	.	ENSP00000284049:Q1051X	Q	-	1	0	CHD1	98243242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.434000	0.97515	2.705000	0.92388	0.655000	0.94253	CAA		0.338	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		8	20	0	0	0	1	0	8	20				
KRTAP1-5	83895	broad.mit.edu	37	17	39183291	39183291	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr17:39183291G>C	ENST00000361883.5	-	1	163	c.117C>G	c.(115-117)agC>agG	p.S39R		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	39	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			TAGTCTGGCAGCTGCGTGGCT	0.612																																						ENST00000361883.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(115-117)agC>agG		keratin associated protein 1-5							43.0	49.0	47.0					17																	39183291		1997	4185	6182	SO:0001583	missense	83895					keratin filament		g.chr17:39183291G>C	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.117C>G	17.37:g.39183291G>C	ENSP00000355302:p.Ser39Arg						p.S39R	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	163	-		Breast(137;0.00043)	39			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.117C>G	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.744	-0.775391	0.02951	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.34667	1.35	1.0	-0.0605	0.13788	.	.	.	.	.	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	B	0.26400	0.148	B	0.23419	0.046	T	0.20605	-1.0270	9	0.87932	D	0	.	4.9576	0.14050	0.246:0.0:0.754:0.0	.	39	Q9BYS1	KRA15_HUMAN	R	39	ENSP00000355302:S39R	ENSP00000355302:S39R	S	-	3	2	KRTAP1-5	36436817	0.001000	0.12720	0.002000	0.10522	0.127000	0.20565	0.009000	0.13219	-0.022000	0.13986	0.313000	0.20887	AGC		0.612	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			8	43	0	0	0	1	0	8	43				
NFAT5	10725	broad.mit.edu	37	16	69727847	69727847	+	Silent	SNP	T	T	C			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr16:69727847T>C	ENST00000354436.2	+	12	4383	c.4065T>C	c.(4063-4065)tcT>tcC	p.S1355S	NFAT5_ENST00000567239.1_Silent_p.S1372S|NFAT5_ENST00000393742.2_Silent_p.S1279S|NFAT5_ENST00000566899.1_Silent_p.S1279S|NFAT5_ENST00000432919.1_Silent_p.S1373S|NFAT5_ENST00000349945.1_Silent_p.S1279S	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1355					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCCATAGCTCTCCTCAGATTC	0.483																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3835-3837)tcT>tcC		nuclear factor of activated T-cells 5, tonicity-responsive							121.0	100.0	107.0					16																	69727847		2198	4300	6498	SO:0001819	synonymous_variant	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69727847T>C	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.4065T>C	16.37:g.69727847T>C						NFAT5_ENST00000393742.2_Silent_p.S1279S|NFAT5_ENST00000567239.1_Silent_p.S1372S|NFAT5_ENST00000566899.1_Silent_p.S1279S|NFAT5_ENST00000432919.1_Silent_p.S1373S|NFAT5_ENST00000354436.2_Silent_p.S1355S	p.S1279S	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	5389	+			1355					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	ENST00000354436.2	37	c.3837T>C	CCDS10881.1																																																																																				0.483	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		8	71	0	0	0	1	0	8	71				
FN1	2335	broad.mit.edu	37	2	216262472	216262472	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr2:216262472C>A	ENST00000359671.1	-	22	3713	c.3448G>T	c.(3448-3450)Gtc>Ttc	p.V1150F	FN1_ENST00000336916.4_Missense_Mutation_p.V1150F|FN1_ENST00000432072.2_Missense_Mutation_p.V1150F|FN1_ENST00000346544.3_Missense_Mutation_p.V1150F|FN1_ENST00000421182.1_Missense_Mutation_p.V1150F|FN1_ENST00000345488.5_Missense_Mutation_p.V1150F|FN1_ENST00000357867.4_Missense_Mutation_p.V1150F|FN1_ENST00000446046.1_Missense_Mutation_p.V1150F|FN1_ENST00000443816.1_Missense_Mutation_p.V1150F|FN1_ENST00000356005.4_Missense_Mutation_p.V1150F|FN1_ENST00000354785.4_Missense_Mutation_p.V1150F|FN1_ENST00000323926.6_Missense_Mutation_p.V1150F|FN1_ENST00000357009.2_Missense_Mutation_p.V1150F			P02751	FINC_HUMAN	fibronectin 1	1150	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ATGGTGTAGACGTATTCTACT	0.483																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(3448-3450)Gtc>Ttc		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						188.0	164.0	172.0					2																	216262472		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216262472C>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3448G>T	2.37:g.216262472C>A	ENSP00000352696:p.Val1150Phe					FN1_ENST00000356005.4_Missense_Mutation_p.V1150F|FN1_ENST00000432072.2_Missense_Mutation_p.V1150F|FN1_ENST00000336916.4_Missense_Mutation_p.V1150F|FN1_ENST00000421182.1_Missense_Mutation_p.V1150F|FN1_ENST00000346544.3_Missense_Mutation_p.V1150F|FN1_ENST00000443816.1_Missense_Mutation_p.V1150F|FN1_ENST00000359671.1_Missense_Mutation_p.V1150F|FN1_ENST00000357009.2_Missense_Mutation_p.V1150F|FN1_ENST00000345488.5_Missense_Mutation_p.V1150F|FN1_ENST00000323926.6_Missense_Mutation_p.V1150F|FN1_ENST00000446046.1_Missense_Mutation_p.V1150F|FN1_ENST00000357867.4_Missense_Mutation_p.V1150F	p.V1150F			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	22	3817	-		Renal(323;0.127)	1150			Fibronectin type-III 6.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.3448G>T		.	.	.	.	.	.	.	.	.	.	C	12.10	1.835391	0.32421	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35	5.36	-3.03	0.05429	.	1.373970	0.04537	N	0.387415	T	0.59622	0.2207	N	0.22421	0.69	0.09310	N	1	P;P;D;P;P;P;P;P;P;P	0.62365	0.933;0.537;0.991;0.845;0.943;0.537;0.945;0.745;0.601;0.723	P;B;D;P;P;P;P;P;P;B	0.68353	0.598;0.293;0.957;0.615;0.852;0.496;0.797;0.615;0.488;0.385	T	0.61357	-0.7079	10	0.62326	D	0.03	.	14.6738	0.68964	0.0:0.2554:0.0:0.7446	.	1150;1150;1150;1150;1150;1150;1150;1150;1150;1150	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	F	1150	ENSP00000394423:V1150F;ENSP00000323534:V1150F;ENSP00000338200:V1150F;ENSP00000350534:V1150F;ENSP00000346839:V1150F;ENSP00000352696:V1150F;ENSP00000265312:V1150F;ENSP00000273049:V1150F;ENSP00000349509:V1150F;ENSP00000410422:V1150F;ENSP00000415018:V1150F;ENSP00000399538:V1150F;ENSP00000348285:V1150F	ENSP00000265313:V1150F	V	-	1	0	FN1	215970717	0.041000	0.20044	0.000000	0.03702	0.230000	0.25150	-0.080000	0.11339	-0.937000	0.03719	-0.229000	0.12294	GTC		0.483	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		9	72	1	0	7.48243e-07	1	8.7005e-07	9	72				
ADAM21P1	145241	broad.mit.edu	37	14	70714144	70714144	+	RNA	SNP	A	A	G	rs111296958		TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr14:70714144A>G	ENST00000530196.1	-	0	374					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		AGAGCTTCTTAACCCTCATAT	0.502																																						ENST00000530196.1																			0																																																			0							g.chr14:70714144A>G			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714144A>G								NR_003951.1						0	374	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.502	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		5	85	0	0	0	1	0	5	85				
ANKRD36BP2	645784	broad.mit.edu	37	2	89103878	89103878	+	RNA	SNP	T	T	A	rs573558129		TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr2:89103878T>A	ENST00000393525.3	+	0	4352									ankyrin repeat domain 36B pseudogene 2																		TAATTTTTTTTAATTCTTTGT	0.284													T|||	1	0.000199681	0.0008	0.0	5008	,	,		16201	0.0		0.0	False		,,,				2504	0.0					ENST00000393525.3																			0																																																			0							g.chr2:89103878T>A			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89103878T>A														0	4352	+									RNA	SNP	ENST00000393525.3	37																																																																																						0.284	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			3	11	0	0	0	1	0	3	11				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	104	0	0	0	1	0	6	104				
ERP27	121506	broad.mit.edu	37	12	15067692	15067692	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr12:15067692T>G	ENST00000266397.2	-	7	1372	c.799A>C	c.(799-801)Aag>Cag	p.K267Q	ERP27_ENST00000544881.1_5'Flank|ERP27_ENST00000540097.1_Missense_Mutation_p.K166Q	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	267						endoplasmic reticulum (GO:0005783)				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TTTGGAGTCTTTCCTTCTGAT	0.363																																						ENST00000266397.2																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						c.(799-801)Aag>Cag		endoplasmic reticulum protein 27							196.0	168.0	177.0					12																	15067692		2203	4300	6503	SO:0001583	missense	121506					endoplasmic reticulum lumen		g.chr12:15067692T>G	AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"""Protein disulfide isomerases"""	26495	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 8"""	610642	"""chromosome 12 open reading frame 46"", ""endoplasmic reticulum protein 27 kDa"""	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.799A>C	12.37:g.15067692T>G	ENSP00000266397:p.Lys267Gln					ERP27_ENST00000540097.1_Missense_Mutation_p.K166Q	p.K267Q	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN			7	1372	-			267						Missense_Mutation	SNP	ENST00000266397.2	37	c.799A>C	CCDS8670.1	.	.	.	.	.	.	.	.	.	.	T	5.045	0.194068	0.09599	.	.	ENSG00000139055	ENST00000266397;ENST00000540097	T;T	0.46819	1.84;0.86	4.54	1.76	0.24704	.	0.450849	0.25006	N	0.033867	T	0.44393	0.1291	L	0.50333	1.59	0.09310	N	1	D	0.58620	0.983	P	0.53401	0.725	T	0.24440	-1.0160	10	0.25106	T	0.35	-2.5365	3.5911	0.07989	0.0:0.1582:0.21:0.6318	.	267	Q96DN0	ERP27_HUMAN	Q	267;166	ENSP00000266397:K267Q;ENSP00000440573:K166Q	ENSP00000266397:K267Q	K	-	1	0	ERP27	14958959	0.853000	0.29707	0.004000	0.12327	0.109000	0.19521	0.949000	0.29109	0.353000	0.24079	-0.264000	0.10439	AAG		0.363	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400868.1	NM_152321		13	42	0	0	0	1	0	13	42				
FRG1B	284802	broad.mit.edu	37	20	29625892	29625892	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr20:29625892T>C	ENST00000278882.3	+	5	516	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H|FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	46										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAATCTGGCTATGGAAAATA	0.348																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(136-138)Tat>Cat																																						SO:0001583	missense	0							g.chr20:29625892T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.136T>C	20.37:g.29625892T>C	ENSP00000278882:p.Tyr46His					FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H|FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H	p.Y46H							5	516	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.136T>C		.	.	.	.	.	.	.	.	.	.	t	11.71	1.718965	0.30503	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50548	0.74	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	.	.	.	0.48341	D	0.999631	P	0.36837	0.571	P	0.54499	0.754	T	0.46176	-0.9210	9	0.28530	T	0.3	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	51	F5H5R5	.	H	46;51;46	ENSP00000408863:Y51H	ENSP00000278882:Y46H	Y	+	1	0	FRG1B	28239553	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	TAT		0.348	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	118	0	0	0	1	0	4	118				
SPOP	8405	broad.mit.edu	37	17	47696643	47696643	+	Missense_Mutation	SNP	A	A	G	rs193920894		TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr17:47696643A>G	ENST00000393328.2	-	5	670	c.305T>C	c.(304-306)tTc>tCc	p.F102S	SPOP_ENST00000503676.1_Missense_Mutation_p.F102S|SPOP_ENST00000393331.3_Missense_Mutation_p.F102S|SPOP_ENST00000504102.1_Missense_Mutation_p.F102S|SPOP_ENST00000347630.2_Missense_Mutation_p.F102S|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F102C(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAGAATTTGAATTTTGCCCG	0.408										Prostate(2;0.17)																												ENST00000393331.3																			2	Substitution - Missense(2)	p.F102C(2)	prostate(2)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(304-306)tTc>tCc		speckle-type POZ protein							147.0	136.0	140.0					17																	47696643		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696643A>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.305T>C	17.37:g.47696643A>G	ENSP00000377001:p.Phe102Ser	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F102S|SPOP_ENST00000503676.1_Missense_Mutation_p.F102S|SPOP_ENST00000393328.2_Missense_Mutation_p.F102S|SPOP_ENST00000347630.2_Missense_Mutation_p.F102S	p.F102S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	775	-			102			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.305T>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.706704	0.89018	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.83445	0.5256	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86271	0.1661	10	0.87932	D	0	-11.8278	15.4649	0.75390	1.0:0.0:0.0:0.0	.	102	O43791	SPOP_HUMAN	S	102;102;102;102;102;55;102;102;102;102;102	ENSP00000377001:F102S;ENSP00000377004:F102S;ENSP00000240327:F102S;ENSP00000425905:F102S;ENSP00000420908:F102S;ENSP00000426986:F102S;ENSP00000420960:F102S;ENSP00000426262:F102S;ENSP00000424119:F102S;ENSP00000426537:F102S	ENSP00000240327:F102S	F	-	2	0	SPOP	45051642	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TTC		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		11	69	0	0	0	1	0	11	69				
EBF3	253738	broad.mit.edu	37	10	131761766	131761766	+	Silent	SNP	C	C	T			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr10:131761766C>T	ENST00000355311.5	-	2	228	c.156G>A	c.(154-156)gcG>gcA	p.A52A	EBF3_ENST00000368648.3_Silent_p.A52A			Q9H4W6	COE3_HUMAN	early B-cell factor 3	52					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TCTCGAAGTGCGCCCGCGCCA	0.711																																						ENST00000368648.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(154-156)gcG>gcA		early B-cell factor 3							28.0	32.0	31.0					10																	131761766		2203	4300	6503	SO:0001819	synonymous_variant	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131761766C>T		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.156G>A	10.37:g.131761766C>T						EBF3_ENST00000355311.5_Silent_p.A52A	p.A52A	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	2	228	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	52					A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	ENST00000355311.5	37	c.156G>A																																																																																					0.711	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		3	23	0	0	0	1	0	3	23				
ACTC1	70	broad.mit.edu	37	15	35087001	35087001	+	Silent	SNP	G	G	A	rs535623090		TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr15:35087001G>A	ENST00000290378.4	-	2	664	c.9C>T	c.(7-9)gaC>gaT	p.D3D	ACTC1_ENST00000557860.1_5'Flank|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	3					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TCTCCTCGTCGTCACACATCT	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		12996	0.001		0.0	False		,,,				2504	0.0					ENST00000290378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31						c.(7-9)gaC>gaT		actin, alpha, cardiac muscle 1							77.0	81.0	80.0					15																	35087001		2201	4298	6499	SO:0001819	synonymous_variant	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35087001G>A	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.9C>T	15.37:g.35087001G>A						RP11-814P5.1_ENST00000503496.1_RNA	p.D3D	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	2	664	-		all_lung(180;2.3e-08)	3					P04270	Silent	SNP	ENST00000290378.4	37	c.9C>T	CCDS10041.1																																																																																				0.667	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		19	77	0	0	0	1	0	19	77				
ZNF804A	91752	broad.mit.edu	37	2	185802525	185802525	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr2:185802525C>A	ENST00000302277.6	+	4	2996	c.2402C>A	c.(2401-2403)aCt>aAt	p.T801N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	801							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCACCAAGTACTTCAGTTGCT	0.373																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(2401-2403)aCt>aAt		zinc finger protein 804A							47.0	52.0	50.0					2																	185802525		2197	4297	6494	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802525C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2402C>A	2.37:g.185802525C>A	ENSP00000303252:p.Thr801Asn						p.T801N	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	2996	+			801					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2402C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	2.834	-0.242005	0.05906	.	.	ENSG00000170396	ENST00000302277	T	0.05786	3.39	5.67	2.78	0.32641	.	1.403200	0.04583	N	0.395301	T	0.06005	0.0156	N	0.19112	0.55	0.09310	N	1	B	0.23735	0.09	B	0.24006	0.05	T	0.41342	-0.9514	10	0.33940	T	0.23	-1.4419	8.9651	0.35872	0.0:0.6448:0.2798:0.0754	.	801	Q7Z570	Z804A_HUMAN	N	801	ENSP00000303252:T801N	ENSP00000303252:T801N	T	+	2	0	ZNF804A	185510770	0.000000	0.05858	0.136000	0.22124	0.096000	0.18686	0.040000	0.13905	0.761000	0.33130	-0.753000	0.03488	ACT		0.373	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		7	44	1	0	0.00307968	1	0.00327625	7	44				
GPR56	9289	broad.mit.edu	37	16	57685484	57685484	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr16:57685484C>T	ENST00000388812.4	+	3	877	c.437C>T	c.(436-438)cCt>cTt	p.P146L	GPR56_ENST00000456916.1_Missense_Mutation_p.P146L|GPR56_ENST00000568908.1_Missense_Mutation_p.P146L|GPR56_ENST00000540164.2_Missense_Mutation_p.P146L|GPR56_ENST00000538815.1_Missense_Mutation_p.P146L|GPR56_ENST00000562631.1_Missense_Mutation_p.P146L|GPR56_ENST00000567835.1_Missense_Mutation_p.P146L|GPR56_ENST00000562558.1_Missense_Mutation_p.P146L|GPR56_ENST00000568909.1_Missense_Mutation_p.P146L|GPR56_ENST00000379696.3_Missense_Mutation_p.P146L|GPR56_ENST00000544297.1_5'UTR|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000388813.5_Missense_Mutation_p.P146L|GPR56_ENST00000564912.1_3'UTR			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	146					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TGGTGGAGCCCTCAGAACATC	0.607																																						ENST00000562631.1																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						c.(436-438)cCt>cTt		G protein-coupled receptor 56							40.0	42.0	41.0					16																	57685484		2198	4300	6498	SO:0001583	missense	0				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57685484C>T	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.437C>T	16.37:g.57685484C>T	ENSP00000373464:p.Pro146Leu					GPR56_ENST00000567835.1_Missense_Mutation_p.P146L|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000540164.2_Missense_Mutation_p.P146L|GPR56_ENST00000544297.1_5'UTR|GPR56_ENST00000379696.3_Missense_Mutation_p.P146L|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000538815.1_Missense_Mutation_p.P146L|GPR56_ENST00000456916.1_Missense_Mutation_p.P146L|GPR56_ENST00000562558.1_Missense_Mutation_p.P146L|GPR56_ENST00000388812.4_Missense_Mutation_p.P146L|GPR56_ENST00000388813.5_Missense_Mutation_p.P146L|GPR56_ENST00000568909.1_Missense_Mutation_p.P146L|GPR56_ENST00000568908.1_Missense_Mutation_p.P146L	p.P146L			Q9Y653	GPR56_HUMAN			3	969	+			146					A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	ENST00000388812.4	37	c.437C>T	CCDS32460.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044300	0.36085	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000379696	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.21	5.21	0.72293	.	0.231906	0.30723	N	0.009002	T	0.58018	0.2093	M	0.62723	1.935	0.34881	D	0.744565	D;D;D	0.76494	0.999;0.998;0.997	D;D;P	0.66351	0.922;0.943;0.879	T	0.70561	-0.4838	10	0.87932	D	0	.	11.4281	0.50022	0.1799:0.8201:0.0:0.0	.	151;146;146	B4DR54;Q9Y653-2;Q9Y653	.;.;GPR56_HUMAN	L	146	ENSP00000373465:P146L;ENSP00000373464:P146L;ENSP00000444415:P146L;ENSP00000398034:P146L;ENSP00000444911:P146L;ENSP00000369018:P146L	ENSP00000369018:P146L	P	+	2	0	GPR56	56242985	0.000000	0.05858	0.032000	0.17829	0.001000	0.01503	0.173000	0.16724	2.433000	0.82419	0.655000	0.94253	CCT		0.607	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			7	33	0	0	0	1	0	7	33				
STAB2	55576	broad.mit.edu	37	12	104046463	104046463	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr12:104046463G>A	ENST00000388887.2	+	12	1591	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAAGTCGGGGGAAATCTTCAA	0.403																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(1387-1389)Gaa>Aaa		stabilin 2							81.0	76.0	78.0					12																	104046463		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104046463G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1387G>A	12.37:g.104046463G>A	ENSP00000373539:p.Glu463Lys						p.E463K	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			12	1591	+			463			FAS1 1.			Missense_Mutation	SNP	ENST00000388887.2	37	c.1387G>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662019	0.29515	.	.	ENSG00000136011	ENST00000388887	D	0.90504	-2.68	5.82	4.93	0.64822	FAS1 domain (5);	0.057780	0.64402	D	0.000003	D	0.84665	0.5522	L	0.41961	1.31	0.40657	D	0.982096	P	0.36974	0.576	B	0.30029	0.11	T	0.82678	-0.0338	10	0.19590	T	0.45	.	14.4096	0.67106	0.0712:0.0:0.9288:0.0	.	463	Q8WWQ8	STAB2_HUMAN	K	463	ENSP00000373539:E463K	ENSP00000373539:E463K	E	+	1	0	STAB2	102570593	1.000000	0.71417	0.999000	0.59377	0.150000	0.21749	5.178000	0.65037	1.462000	0.47948	0.655000	0.94253	GAA		0.403	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			13	35	0	0	0	1	0	13	35				
HDC	3067	broad.mit.edu	37	15	50545830	50545830	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr15:50545830C>A	ENST00000267845.3	-	7	1156	c.754G>T	c.(754-756)Gca>Tca	p.A252S	HDC_ENST00000543581.1_Missense_Mutation_p.A252S	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CAGTCAAATGCACAGACCCCA	0.488																																					GBM(95;1627 1936 6910 9570)	ENST00000267845.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(754-756)Gca>Tca		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						104.0	97.0	100.0					15																	50545830		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50545830C>A		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.754G>T	15.37:g.50545830C>A	ENSP00000267845:p.Ala252Ser					HDC_ENST00000543581.1_Missense_Mutation_p.A252S	p.A252S	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	7	1156	-		all_lung(180;0.0138)	252						Missense_Mutation	SNP	ENST00000267845.3	37	c.754G>T	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983479	0.74474	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.42131	0.98;0.98	5.18	5.18	0.71444	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.055714	0.64402	D	0.000001	T	0.43211	0.1237	L	0.33753	1.03	0.51767	D	0.999934	P;P	0.47191	0.844;0.891	P;P	0.49276	0.487;0.605	T	0.08310	-1.0728	10	0.22109	T	0.4	-12.3227	18.8826	0.92362	0.0:1.0:0.0:0.0	.	252;252	B7ZM01;P19113	.;DCHS_HUMAN	S	252	ENSP00000267845:A252S;ENSP00000440252:A252S	ENSP00000267845:A252S	A	-	1	0	HDC	48333122	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.381000	0.59587	2.698000	0.92095	0.655000	0.94253	GCA		0.488	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			11	63	1	0	7.03913e-09	1	8.37991e-09	11	63				
WDR3	10885	broad.mit.edu	37	1	118486064	118486064	+	Silent	SNP	C	C	T			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr1:118486064C>T	ENST00000349139.5	+	11	1190	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	381						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TAAAGGCTGTCTTCCTGCTGC	0.438																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1141-1143)gtC>gtT		WD repeat domain 3							114.0	94.0	101.0					1																	118486064		2203	4300	6503	SO:0001819	synonymous_variant	10885					nuclear membrane|nucleolus		g.chr1:118486064C>T	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1143C>T	1.37:g.118486064C>T							p.V381V	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	11	1190	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	381						Silent	SNP	ENST00000349139.5	37	c.1143C>T	CCDS898.1																																																																																				0.438	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		5	34	0	0	0	1	0	5	34				
LRP1B	53353	broad.mit.edu	37	2	141665495	141665495	+	Silent	SNP	G	G	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr2:141665495G>A	ENST00000389484.3	-	22	4442	c.3471C>T	c.(3469-3471)tgC>tgT	p.C1157C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1157	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)	p.C1157*(1)		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)		TTTTCCCATTGCAGAGTTTCT	0.438										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			1	Substitution - Nonsense(1)	p.C1157*(1)	lung(1)	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.(3469-3471)tgC>tgT		low density lipoprotein receptor-related protein 1B							181.0	177.0	179.0					2																	141665495		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141665495G>A	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.3471C>T	2.37:g.141665495G>A		TSP Lung(27;0.18)					p.C1157C	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)	22	4442	-		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)	1157			LDL-receptor class A 10.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.3471C>T	CCDS2182.1																																																																																				0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	105	0	0	0	1	0	13	105				
LRRN3	54674	broad.mit.edu	37	7	110764942	110764942	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr7:110764942C>A	ENST00000422987.3	+	2	2945	c.2114C>A	c.(2113-2115)aCa>aAa	p.T705K	LRRN3_ENST00000451085.1_Missense_Mutation_p.T705K|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.T705K|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	705					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GGTTTACCAACAAATATGTCC	0.343																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(2113-2115)aCa>aAa		leucine rich repeat neuronal 3							38.0	40.0	40.0					7																	110764942		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110764942C>A	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.2114C>A	7.37:g.110764942C>A	ENSP00000412417:p.Thr705Lys					IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.T705K|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.T705K|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron	p.T705K	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	3160	+			705					O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.2114C>A	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481562	0.44147	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.61392	0.11;0.11;0.11	5.26	4.32	0.51571	.	0.752485	0.11562	N	0.551643	T	0.57519	0.2059	M	0.61703	1.905	0.38163	D	0.939099	B	0.18166	0.026	B	0.18561	0.022	T	0.55952	-0.8059	10	0.36615	T	0.2	.	15.6344	0.76941	0.0:0.8625:0.1375:0.0	.	705	Q9H3W5	LRRN3_HUMAN	K	705	ENSP00000312001:T705K;ENSP00000397312:T705K;ENSP00000412417:T705K	ENSP00000312001:T705K	T	+	2	0	LRRN3	110552178	1.000000	0.71417	0.998000	0.56505	0.766000	0.43426	4.567000	0.60850	2.608000	0.88229	0.591000	0.81541	ACA		0.343	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		8	38	1	0	2.17888e-05	1	2.476e-05	8	38				
XAB2	56949	broad.mit.edu	37	19	7684907	7684907	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr19:7684907T>G	ENST00000358368.4	-	17	2358	c.2321A>C	c.(2320-2322)cAg>cCg	p.Q774P	XAB2_ENST00000534844.1_Missense_Mutation_p.Q771P	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	774					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CTCTGCCCGCTGTTCCAGCAG	0.687								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(2320-2322)cAg>cCg	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							27.0	27.0	27.0					19																	7684907		2201	4288	6489	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7684907T>G	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.2321A>C	19.37:g.7684907T>G	ENSP00000351137:p.Gln774Pro					XAB2_ENST00000534844.1_Missense_Mutation_p.Q771P	p.Q774P	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			17	2358	-			774					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.2321A>C	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	T	8.979	0.974881	0.18736	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.23552	1.9;1.9	4.67	4.67	0.58626	.	0.072360	0.56097	D	0.000025	T	0.22898	0.0553	L	0.39898	1.24	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.03545	-1.1026	10	0.56958	D	0.05	-35.2876	13.0922	0.59172	0.0:0.0:0.0:1.0	.	774	Q9HCS7	SYF1_HUMAN	P	774;771	ENSP00000351137:Q774P;ENSP00000438225:Q771P	ENSP00000351137:Q774P	Q	-	2	0	XAB2	7590907	1.000000	0.71417	0.993000	0.49108	0.090000	0.18270	5.546000	0.67243	1.750000	0.51863	0.254000	0.18369	CAG		0.687	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		3	24	0	0	0	1	0	3	24				
TTF2	8458	broad.mit.edu	37	1	117619327	117619327	+	Silent	SNP	C	C	T			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr1:117619327C>T	ENST00000369466.4	+	7	1499	c.1455C>T	c.(1453-1455)ggC>ggT	p.G485G		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	485					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTACCACTGGCCCTCCCCACC	0.517																																						ENST00000369466.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(1453-1455)ggC>ggT		transcription termination factor, RNA polymerase II							101.0	97.0	98.0					1																	117619327		2203	4300	6503	SO:0001819	synonymous_variant	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117619327C>T	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.1455C>T	1.37:g.117619327C>T							p.G485G	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	7	1499	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	485					A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Silent	SNP	ENST00000369466.4	37	c.1455C>T	CCDS892.1																																																																																				0.517	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			7	39	0	0	0	1	0	7	39				
LRRN3	54674	broad.mit.edu	37	7	110764938	110764938	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr7:110764938C>G	ENST00000422987.3	+	2	2941	c.2110C>G	c.(2110-2112)Cca>Gca	p.P704A	LRRN3_ENST00000451085.1_Missense_Mutation_p.P704A|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.P704A|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	704					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TATAGGTTTACCAACAAATAT	0.343																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(2110-2112)Cca>Gca		leucine rich repeat neuronal 3							40.0	43.0	42.0					7																	110764938		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110764938C>G	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.2110C>G	7.37:g.110764938C>G	ENSP00000412417:p.Pro704Ala					IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.P704A|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.P704A|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron	p.P704A	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	3156	+			704					O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.2110C>G	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629955	0.46944	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.60171	0.21;0.21;0.21	5.26	5.26	0.73747	.	0.251074	0.28093	N	0.016623	T	0.55210	0.1906	M	0.62723	1.935	0.45183	D	0.99819	P	0.40083	0.702	B	0.34418	0.182	T	0.57388	-0.7820	10	0.32370	T	0.25	.	19.2262	0.93819	0.0:1.0:0.0:0.0	.	704	Q9H3W5	LRRN3_HUMAN	A	704	ENSP00000312001:P704A;ENSP00000397312:P704A;ENSP00000412417:P704A	ENSP00000312001:P704A	P	+	1	0	LRRN3	110552174	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	4.327000	0.59247	2.608000	0.88229	0.591000	0.81541	CCA		0.343	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		7	41	0	0	0	1	0	7	41				
UBR2	23304	broad.mit.edu	37	6	42620325	42620325	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr6:42620325T>G	ENST00000372899.1	+	25	2969	c.2711T>G	c.(2710-2712)aTt>aGt	p.I904S	UBR2_ENST00000372883.3_Missense_Mutation_p.I408S|UBR2_ENST00000372901.1_Missense_Mutation_p.I904S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	904					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATGGGAACAATTCTGCAATGG	0.428																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(2710-2712)aTt>aGt		ubiquitin protein ligase E3 component n-recognin 2							193.0	170.0	178.0					6																	42620325		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42620325T>G	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2711T>G	6.37:g.42620325T>G	ENSP00000361990:p.Ile904Ser					UBR2_ENST00000372901.1_Missense_Mutation_p.I904S|UBR2_ENST00000372883.3_Missense_Mutation_p.I408S	p.I904S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		25	2969	+	Colorectal(47;0.196)		904					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.2711T>G	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.328408	0.60743	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.55052	0.54;0.54;0.54	5.52	5.52	0.82312	.	0.306737	0.37178	N	0.002211	T	0.40297	0.1111	L	0.59436	1.845	0.44345	D	0.997239	B;B	0.29716	0.227;0.255	B;B	0.36666	0.23;0.172	T	0.35943	-0.9768	10	0.25751	T	0.34	-33.2949	15.6293	0.76888	0.0:0.0:0.0:1.0	.	904;904	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	S	904;904;408	ENSP00000361990:I904S;ENSP00000361992:I904S;ENSP00000361974:I408S	ENSP00000361974:I408S	I	+	2	0	UBR2	42728303	1.000000	0.71417	0.032000	0.17829	0.997000	0.91878	7.282000	0.78630	2.087000	0.62958	0.533000	0.62120	ATT		0.428	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		31	113	0	0	0	1	0	31	113				
FOXJ2	55810	broad.mit.edu	37	12	8203211	8203211	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr12:8203211G>A	ENST00000162391.3	+	10	2776	c.1631G>A	c.(1630-1632)cGc>cAc	p.R544H	FOXJ2_ENST00000539192.1_3'UTR	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	544					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	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 (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GGATACAATCGCCCAGGTAAG	0.502																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(1630-1632)cGc>cAc		forkhead box J2							114.0	104.0	108.0					12																	8203211		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8203211G>A	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.1631G>A	12.37:g.8203211G>A	ENSP00000162391:p.Arg544His					FOXJ2_ENST00000539192.1_3'UTR	p.R544H	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	10	2776	+			544					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.1631G>A	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562807	0.86335	.	.	ENSG00000065970	ENST00000162391	D	0.94232	-3.38	5.13	5.13	0.70059	.	0.370511	0.23083	N	0.052137	D	0.94614	0.8264	L	0.44542	1.39	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.93720	0.7032	10	0.44086	T	0.13	.	13.9541	0.64137	0.0:0.0:1.0:0.0	.	544	Q9P0K8	FOXJ2_HUMAN	H	544	ENSP00000162391:R544H	ENSP00000162391:R544H	R	+	2	0	FOXJ2	8094478	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.756000	0.68757	2.655000	0.90218	0.655000	0.94253	CGC		0.502	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		5	34	0	0	0	1	0	5	34				
OR8K5	219453	broad.mit.edu	37	11	55927409	55927409	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr11:55927409G>T	ENST00000313447.1	-	1	384	c.385C>A	c.(385-387)Cct>Act	p.P129T		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TAGAGCAGAGGGTTACAAATG	0.428																																						ENST00000313447.1																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(385-387)Cct>Act		olfactory receptor, family 8, subfamily K, member 5							85.0	86.0	85.0					11																	55927409		2201	4295	6496	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927409G>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.385C>A	11.37:g.55927409G>T	ENSP00000323853:p.Pro129Thr						p.P129T	NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	384	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	129					Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.385C>A	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450508	0.63290	.	.	ENSG00000181752	ENST00000313447	T	0.01887	4.58	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000029	T	0.20659	0.0497	H	0.98664	4.295	0.42993	D	0.99449	D	0.65815	0.995	P	0.58970	0.849	T	0.49579	-0.8925	10	0.87932	D	0	.	16.1053	0.81216	0.0:0.0:1.0:0.0	.	129	Q8NH50	OR8K5_HUMAN	T	129	ENSP00000323853:P129T	ENSP00000323853:P129T	P	-	1	0	OR8K5	55683985	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	6.670000	0.74467	2.308000	0.77769	0.567000	0.79289	CCT		0.428	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		5	66	1	0	0.014758	1	0.0150592	5	66				
PCDHGA8	9708	broad.mit.edu	37	5	140773889	140773889	+	Silent	SNP	G	G	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr5:140773889G>A	ENST00000398604.2	+	1	1509	c.1509G>A	c.(1507-1509)tcG>tcA	p.S503S	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGTCCTCGTATATCTCCA	0.567																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1507-1509)tcG>tcA									49.0	57.0	54.0					5																	140773889		2172	4286	6458	SO:0001819	synonymous_variant	0							g.chr5:140773889G>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1509G>A	5.37:g.140773889G>A						PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.S503S	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1509	+								A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.1509G>A	CCDS47291.1																																																																																				0.567	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		3	42	0	0	0	1	0	3	42				
PSMD5	5711	broad.mit.edu	37	9	123591480	123591480	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr9:123591480T>C	ENST00000210313.3	-	5	642	c.568A>G	c.(568-570)Ata>Gta	p.I190V	PSMD5_ENST00000373904.5_Missense_Mutation_p.I147V|PSMD5-AS1_ENST00000589026.1_RNA	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	190					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						GAAATCTCTATAATTAGCTGA	0.383																																						ENST00000210313.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						c.(568-570)Ata>Gta		proteasome (prosome, macropain) 26S subunit, non-ATPase, 5							64.0	68.0	67.0					9																	123591480		2203	4300	6503	SO:0001583	missense	5711				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr9:123591480T>C	AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"""Proteasome (prosome, macropain) subunits"""	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.568A>G	9.37:g.123591480T>C	ENSP00000210313:p.Ile190Val					PSMD5_ENST00000373904.5_Missense_Mutation_p.I147V|PSMD5-AS1_ENST00000589026.1_RNA	p.I190V	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN			5	642	-			190					B4DZM8|Q15045|Q4VXG8	Missense_Mutation	SNP	ENST00000210313.3	37	c.568A>G	CCDS6824.1	.	.	.	.	.	.	.	.	.	.	T	3.407	-0.121047	0.06838	.	.	ENSG00000095261	ENST00000210313;ENST00000373904	T;T	0.26067	1.76;1.76	5.68	2.84	0.33178	Armadillo-like helical (1);Armadillo-type fold (1);	0.165253	0.53938	N	0.000059	T	0.06096	0.0158	N	0.00642	-1.3	0.27735	N	0.944664	B;B	0.06786	0.0;0.001	B;B	0.09377	0.003;0.004	T	0.40384	-0.9566	10	0.02654	T	1	.	9.8379	0.40980	0.0:0.7708:0.0:0.2292	.	147;190	B4DZM8;Q16401	.;PSMD5_HUMAN	V	190;147	ENSP00000210313:I190V;ENSP00000363011:I147V	ENSP00000210313:I190V	I	-	1	0	PSMD5	122631301	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	2.311000	0.43717	0.325000	0.23359	-0.836000	0.03065	ATA		0.383	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053825.2	NM_005047		3	27	0	0	0	1	0	3	27				
SRBD1	55133	broad.mit.edu	37	2	45780823	45780823	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr2:45780823A>G	ENST00000263736.4	-	11	1518	c.1456T>C	c.(1456-1458)Tat>Cat	p.Y486H	SRBD1_ENST00000535761.1_Missense_Mutation_p.Y5H	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	486					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AGTGAATTATATAAGATCTTC	0.348																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(1456-1458)Tat>Cat		S1 RNA binding domain 1							75.0	82.0	80.0					2																	45780823		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45780823A>G	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1456T>C	2.37:g.45780823A>G	ENSP00000263736:p.Tyr486His					SRBD1_ENST00000535761.1_Missense_Mutation_p.Y5H	p.Y486H	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		11	1518	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	486					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.1456T>C	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	A	3.377	-0.127207	0.06795	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.41400	1.01;1.0	5.56	-3.79	0.04320	Tex-like domain (1);	1.111300	0.06490	N	0.734371	T	0.12902	0.0313	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18967	-1.0320	10	0.14656	T	0.56	.	5.3074	0.15811	0.3448:0.0:0.4574:0.1978	.	486	Q8N5C6	SRBD1_HUMAN	H	486;5	ENSP00000263736:Y486H;ENSP00000441272:Y5H	ENSP00000263736:Y486H	Y	-	1	0	SRBD1	45634327	0.142000	0.22610	0.001000	0.08648	0.087000	0.18053	0.716000	0.25836	-1.342000	0.02222	-1.208000	0.01637	TAT		0.348	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		5	55	0	0	0	1	0	5	55				
CD5L	922	broad.mit.edu	37	1	157805811	157805811	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr1:157805811C>A	ENST00000368174.4	-	3	286	c.190G>T	c.(190-192)Gag>Tag	p.E64*	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	64	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAGCCCAGCTCCCGGCACAAC	0.577																																						ENST00000368174.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(190-192)Gag>Tag		CD5 molecule-like							134.0	137.0	136.0					1																	157805811		2203	4300	6503	SO:0001587	stop_gained	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157805811C>A	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.190G>T	1.37:g.157805811C>A	ENSP00000357156:p.Glu64*					CD5L_ENST00000484609.1_5'UTR	p.E64*	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	286	-	all_hematologic(112;0.0378)		64			SRCR 1.		A8K7M5|Q6UX63	Nonsense_Mutation	SNP	ENST00000368174.4	37	c.190G>T	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031480	0.75504	.	.	ENSG00000073754	ENST00000368174	.	.	.	4.85	2.87	0.33458	.	0.137374	0.33075	N	0.005317	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.5231	0.56072	0.0:0.4968:0.5032:0.0	.	.	.	.	X	64	.	ENSP00000357156:E64X	E	-	1	0	CD5L	156072435	0.938000	0.31826	0.998000	0.56505	0.786000	0.44442	1.572000	0.36461	0.565000	0.29255	0.563000	0.77884	GAG		0.577	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		23	161	1	0	1.64293e-13	1	2.05367e-13	23	161				
GALNT14	79623	broad.mit.edu	37	2	31165137	31165137	+	Silent	SNP	G	G	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr2:31165137G>A	ENST00000349752.5	-	9	1500	c.861C>T	c.(859-861)atC>atT	p.I287I	GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Silent_p.I254I|GALNT14_ENST00000324589.5_Silent_p.I292I|GALNT14_ENST00000406653.1_Silent_p.I267I|GALNT14_ENST00000420311.2_Silent_p.I252I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	287	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.I287I(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AAGCTTTGTCGATCACGAAGA	0.488																																						ENST00000349752.5																			1	Substitution - coding silent(1)	p.I287I(1)	skin(1)	cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(859-861)atC>atT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)							137.0	124.0	128.0					2																	31165137		2203	4300	6503	SO:0001819	synonymous_variant	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31165137G>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.861C>T	2.37:g.31165137G>A						GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Silent_p.I292I|GALNT14_ENST00000356174.3_Silent_p.I254I|GALNT14_ENST00000420311.2_Silent_p.I252I|GALNT14_ENST00000406653.1_Silent_p.I267I	p.I287I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			9	1500	-	Acute lymphoblastic leukemia(172;0.155)		287			Catalytic subdomain B.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP	ENST00000349752.5	37	c.861C>T	CCDS1773.2																																																																																				0.488	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		4	66	0	0	0	1	0	4	66				
SI	6476	broad.mit.edu	37	3	164748597	164748597	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr3:164748597T>C	ENST00000264382.3	-	25	2857	c.2795A>G	c.(2794-2796)aAt>aGt	p.N932S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	932	Isomaltase.|P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GAAAATTTGATTCCATTGAAC	0.313										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(2794-2796)aAt>aGt		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						59.0	65.0	63.0					3																	164748597		2202	4295	6497	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164748597T>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2795A>G	3.37:g.164748597T>C	ENSP00000264382:p.Asn932Ser	HNSCC(35;0.089)					p.N932S	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			25	2857	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	932			Isomaltase.|P-type 2.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2795A>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.168494	0.00315	.	.	ENSG00000090402	ENST00000264382	T	0.13089	2.62	4.81	-0.423	0.12325	P-type trefoil (2);	0.714488	0.14146	N	0.338349	T	0.04543	0.0124	N	0.05124	-0.11	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44605	-0.9317	10	0.09084	T	0.74	.	5.3493	0.16026	0.0:0.1902:0.457:0.3528	.	932	P14410	SUIS_HUMAN	S	932	ENSP00000264382:N932S	ENSP00000264382:N932S	N	-	2	0	SI	166231291	0.148000	0.22702	0.253000	0.24343	0.213000	0.24496	-0.071000	0.11505	0.334000	0.23590	-0.371000	0.07208	AAT		0.313	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		11	36	0	0	0	1	0	11	36				
CD79A	973	broad.mit.edu	37	19	42383300	42383300	+	Missense_Mutation	SNP	G	G	A	rs143511203		TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr19:42383300G>A	ENST00000221972.3	+	2	505	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	CD79A_ENST00000444740.2_Intron	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	107	Ig-like C2-type.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						TACGTGTGCCGGGTCCAGGAG	0.642			"""O, S"""		DLBCL																																	ENST00000221972.3				Dom	yes		19	19q13.2	973	"""O, S"""	"""CD79a molecule, immunoglobulin-associated alpha"""			L			DLBCL		0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(319-321)cGg>cAg		CD79a molecule, immunoglobulin-associated alpha		G	GLN/ARG,	1,4405	2.1+/-5.4	0,1,2202	68.0	60.0	63.0		320,	-4.5	0.0	19	dbSNP_134	63	0,8600		0,0,4300	no	missense,intron	CD79A	NM_001783.3,NM_021601.3	43,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,	107/227,	42383300	1,13005	2203	4300	6503	SO:0001583	missense	0				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity	g.chr19:42383300G>A	M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1698	protein-coding gene	gene with protein product		112205	"""CD79A antigen (immunoglobulin-associated alpha)"""	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.320G>A	19.37:g.42383300G>A	ENSP00000221972:p.Arg107Gln					CD79A_ENST00000444740.2_Intron	p.R107Q	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN			2	505	+			107			Ig-like C2-type.		A0N775|Q53FB8	Missense_Mutation	SNP	ENST00000221972.3	37	c.320G>A	CCDS12589.1	.	.	.	.	.	.	.	.	.	.	G	6.150	0.395901	0.11638	2.27E-4	0.0	ENSG00000105369	ENST00000221972	T	0.64085	-0.08	5.06	-4.5	0.03493	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.535120	0.03912	N	0.282039	T	0.28863	0.0716	N	0.01209	-0.955	0.09310	N	1	B	0.20671	0.047	B	0.15484	0.013	T	0.48115	-0.9063	10	0.02654	T	1	-0.8828	12.8256	0.57718	0.7913:0.0:0.2087:0.0	.	107	P11912	CD79A_HUMAN	Q	107	ENSP00000221972:R107Q	ENSP00000221972:R107Q	R	+	2	0	CD79A	47075140	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.704000	0.05058	-0.703000	0.05049	-0.145000	0.13849	CGG		0.642	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463058.1			6	33	0	0	0	1	0	6	33				
OR6M1	390261	broad.mit.edu	37	11	123677008	123677008	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr11:123677008G>C	ENST00000309154.2	-	1	87	c.50C>G	c.(49-51)gCt>gGt	p.A17G		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CTCCAGGAGAGCTGGGAAGGC	0.438																																						ENST00000309154.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29						c.(49-51)gCt>gGt		olfactory receptor, family 6, subfamily M, member 1							89.0	79.0	82.0					11																	123677008		2202	4299	6501	SO:0001583	missense	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123677008G>C	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.50C>G	11.37:g.123677008G>C	ENSP00000311038:p.Ala17Gly						p.A17G	NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	87	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	17					B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	c.50C>G	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	G	1.227	-0.625356	0.03610	.	.	ENSG00000196099	ENST00000309154	T	0.00000	10.25	3.57	-2.74	0.05932	.	0.562392	0.13300	U	0.398320	T	0.00039	0.0001	N	0.04686	-0.185	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23154	-1.0196	10	0.56958	D	0.05	.	0.838	0.01144	0.3286:0.3028:0.2149:0.1537	.	17	Q8NGM8	OR6M1_HUMAN	G	17	ENSP00000311038:A17G	ENSP00000311038:A17G	A	-	2	0	OR6M1	123182218	0.000000	0.05858	0.002000	0.10522	0.031000	0.12232	-3.720000	0.00384	-0.428000	0.07339	-0.170000	0.13304	GCT		0.438	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		14	46	0	0	0	1	0	14	46				
PCDHB5	26167	broad.mit.edu	37	5	140517015	140517015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr5:140517015C>T	ENST00000231134.5	+	1	2216	c.1999C>T	c.(1999-2001)Cag>Tag	p.Q667*		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	667	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCTTCTCCCAGCCCTACCT	0.706																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1999-2001)Cag>Tag									43.0	48.0	47.0					5																	140517015		2159	4238	6397	SO:0001587	stop_gained	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140517015C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1999C>T	5.37:g.140517015C>T	ENSP00000231134:p.Gln667*						p.Q667*	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2216	+			667			Cadherin 6.		Q549F4|Q9UFU9	Nonsense_Mutation	SNP	ENST00000231134.5	37	c.1999C>T	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384853	0.82792	.	.	ENSG00000113209	ENST00000231134	.	.	.	4.71	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.6271	0.39757	0.1189:0.6233:0.2578:0.0	.	.	.	.	X	667	.	ENSP00000231134:Q667X	Q	+	1	0	PCDHB5	140497199	0.008000	0.16893	0.998000	0.56505	0.260000	0.26232	0.093000	0.15086	2.337000	0.79520	0.430000	0.28490	CAG		0.706	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		22	96	0	0	0	1	0	22	96				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	18	1	0	0.004672	1	0.00486667	3	18				
SLCO4C1	353189	broad.mit.edu	37	5	101593758	101593758	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr5:101593758C>A	ENST00000310954.6	-	7	1448	c.1162G>T	c.(1162-1164)Gtt>Ttt	p.V388F		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTTGATAGAACTAAACACATA	0.313																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1162-1164)Gtt>Ttt		solute carrier organic anion transporter family, member 4C1							49.0	53.0	51.0					5																	101593758		2203	4296	6499	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101593758C>A	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1162G>T	5.37:g.101593758C>A	ENSP00000309741:p.Val388Phe						p.V388F	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	7	1448	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	388						Missense_Mutation	SNP	ENST00000310954.6	37	c.1162G>T	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542265	0.65198	.	.	ENSG00000173930	ENST00000310954	T	0.44083	0.93	5.81	3.09	0.35607	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.483231	0.19646	N	0.109328	T	0.46833	0.1413	M	0.84773	2.715	0.31412	N	0.675421	B	0.33299	0.407	B	0.38985	0.287	T	0.50189	-0.8857	10	0.20519	T	0.43	.	8.0407	0.30519	0.0:0.6255:0.0:0.3745	.	388	Q6ZQN7	SO4C1_HUMAN	F	388	ENSP00000309741:V388F	ENSP00000309741:V388F	V	-	1	0	SLCO4C1	101621657	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.519000	0.35888	0.827000	0.34685	0.580000	0.79431	GTT		0.313	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		7	23	1	0	0.00198382	1	0.00215632	7	23				
COL24A1	255631	broad.mit.edu	37	1	86340995	86340995	+	Missense_Mutation	SNP	C	C	T	rs377129438		TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr1:86340995C>T	ENST00000370571.2	-	34	3415	c.3049G>A	c.(3049-3051)Gga>Aga	p.G1017R	COL24A1_ENST00000436319.1_Missense_Mutation_p.G1017R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1017	Collagen-like 9.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCAGACTCTCCCTCAGTGCCT	0.428																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(3049-3051)Gga>Aga		collagen, type XXIV, alpha 1		C	ARG/GLY	0,3786		0,0,1893	80.0	78.0	78.0		3049	5.8	1.0	1		78	1,8235		0,1,4117	no	missense	COL24A1	NM_152890.5	125	0,1,6010	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	1017/1715	86340995	1,12021	1893	4118	6011	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86340995C>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3049G>A	1.37:g.86340995C>T	ENSP00000359603:p.Gly1017Arg					COL24A1_ENST00000436319.1_Missense_Mutation_p.G1017R	p.G1017R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	34	3415	-			1017			Collagen-like 9.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.3049G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063775	0.55432	0.0	1.21E-4	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.99637	-6.29;-6.11	5.82	5.82	0.92795	.	0.198195	0.24896	N	0.034733	D	0.99792	0.9912	H	0.96239	3.79	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97411	1.0002	10	0.87932	D	0	.	15.5931	0.76554	0.0:1.0:0.0:0.0	.	1017;1017	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	R	1017	ENSP00000359603:G1017R;ENSP00000392531:G1017R	ENSP00000359603:G1017R	G	-	1	0	COL24A1	86113583	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	4.119000	0.57891	2.756000	0.94617	0.561000	0.74099	GGA		0.428	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		3	35	0	0	0	1	0	3	35				
XPC	7508	broad.mit.edu	37	3	14219966	14219968	+	Splice_Site	DEL	CCT	CCT	-	rs72561774	byFrequency	TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr3:14219966_14219968delCCT	ENST00000285021.7	-	1	315_317	c.101_103delAGG	c.(100-105)gaggat>gat	p.E34del	LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Splice_Site_p.E34del	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	34	Glu-rich (acidic).|Poly-Glu.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.E34delE(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGCTCTCACCCTCCTCCTCCTC	0.734			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			1	Deletion - In frame(1)	p.E34delE(1)	upper_aerodigestive_tract(1)	NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e1+1	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C			,	315,1,3348		29,0,257,0,1,1545					,	5.2	1.0			23	706,1,7113		33,0,640,0,1,3236	no	codingComplex-near-splice,codingComplex-near-splice	XPC	NM_004628.4,NM_001145769.1	,	62,0,897,0,2,4781	A1A1,A1A2,A1R,A2A2,A2R,RR		9.0409,8.6245,8.908	,	,		1021,2,10461				SO:0001630	splice_region_variant	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14219966_14219968delCCT		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.103+1AGG>-	3.37:g.14219975_14219977delCCT						XPC_ENST00000449060.2_Splice_Site_p.ED34_splice|LSM3_ENST00000306024.3_5'UTR	p.ED34_splice	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			1	315_317	-			34			Glu-rich (acidic).|Poly-Glu.		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Splice_Site	DEL	ENST00000285021.7	37	c.103_splice	CCDS46763.1																																																																																				0.734	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628	In_Frame_Del	7	53						7	53	---	---	---	---
DLG5	9231	broad.mit.edu	37	10	79613112	79613114	+	Splice_Site	DEL	CTG	CTG	-			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr10:79613112_79613114delCTG	ENST00000372391.2	-	5	867_869	c.862_864delCAG	c.(862-864)cagdel	p.Q288del	DLG5_ENST00000372388.2_Splice_Site_p.Q288del	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	288					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ctgggCCTACCTGCTGCTGCTGG	0.576																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.e5+1		discs, large homolog 5 (Drosophila)				19,4235		0,19,2108						4.6	1.0			29	80,8134		6,68,4033	no	coding-near-splice	DLG5	NM_004747.3		6,87,6141	A1A1,A1R,RR		0.9739,0.4466,0.794				99,12369				SO:0001630	splice_region_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79613112_79613114delCTG	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.864+1CAG>-	10.37:g.79613121_79613123delCTG						DLG5_ENST00000372388.2_Splice_Site_p.Q288_splice	p.Q288_splice	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		5	867_869	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		288					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Splice_Site	DEL	ENST00000372391.2	37	c.864_splice	CCDS7353.2																																																																																				0.576	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2		In_Frame_Del	2	4						2	4	---	---	---	---
