#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
NCOA2	10499	broad.mit.edu	37	8	71069384	71069384	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr8:71069384G>T	ENST00000452400.2	-	11	1397	c.1216C>A	c.(1216-1218)Cag>Aag	p.Q406K	NCOA2_ENST00000524223.1_5'Flank	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	406					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CACAGGGCCTGATGGGCAGGG	0.498			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(1216-1218)Cag>Aag		nuclear receptor coactivator 2							69.0	66.0	67.0					8																	71069384		1944	4138	6082	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71069384G>T	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1216C>A	8.37:g.71069384G>T	ENSP00000399968:p.Gln406Lys						p.Q406K	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	1397	-	Breast(64;0.201)		406					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.1216C>A	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	G	8.359	0.832718	0.16820	.	.	ENSG00000140396	ENST00000452400	T	0.01527	4.8	5.8	5.8	0.92144	.	0.289991	0.39615	N	0.001305	T	0.02267	0.0070	L	0.36672	1.1	0.80722	D	1	B	0.13145	0.007	B	0.12156	0.007	T	0.49409	-0.8943	10	0.06236	T	0.91	.	20.0522	0.97631	0.0:0.0:1.0:0.0	.	406	Q15596	NCOA2_HUMAN	K	406	ENSP00000399968:Q406K	ENSP00000399968:Q406K	Q	-	1	0	NCOA2	71231938	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.230000	0.95299	2.737000	0.93849	0.563000	0.77884	CAG		0.498	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			6	46	1	0	0.00198382	1	0.00207399	6	46				
DAPK1	1612	broad.mit.edu	37	9	90321375	90321375	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr9:90321375G>A	ENST00000408954.3	+	26	3724	c.3389G>A	c.(3388-3390)cGc>cAc	p.R1130H	DAPK1_ENST00000472284.1_Missense_Mutation_p.R1130H|DAPK1_ENST00000491893.1_Missense_Mutation_p.R1064H|DAPK1_ENST00000469640.2_Missense_Mutation_p.R1155H|DAPK1_ENST00000358077.5_Missense_Mutation_p.R1130H	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1130					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGTGGCGTGCGCATCGTGCCC	0.612									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(3463-3465)cGc>cAc		death-associated protein kinase 1							114.0	125.0	121.0					9																	90321375		2201	4292	6493	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90321375G>A	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3389G>A	9.37:g.90321375G>A	ENSP00000386135:p.Arg1130His					DAPK1_ENST00000472284.1_Missense_Mutation_p.R1130H|DAPK1_ENST00000358077.5_Missense_Mutation_p.R1130H|DAPK1_ENST00000491893.1_Missense_Mutation_p.R1064H|DAPK1_ENST00000408954.3_Missense_Mutation_p.R1130H	p.R1155H			P53355	DAPK1_HUMAN			27	3839	+			1130					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.3464G>A	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670261	0.67814	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.74315	-0.65;-0.65;-0.79;-0.65;-0.83	5.73	4.84	0.62591	.	0.000000	0.49916	D	0.000137	T	0.71710	0.3372	M	0.68952	2.095	0.80722	D	1	B;B;B	0.32128	0.008;0.357;0.008	B;B;B	0.26693	0.005;0.072;0.005	T	0.73783	-0.3874	10	0.87932	D	0	.	14.8378	0.70197	0.0691:0.0:0.9309:0.0	.	1064;1130;1130	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	H	1130;1130;1155;1130;1064	ENSP00000350785:R1130H;ENSP00000417076:R1130H;ENSP00000418885:R1155H;ENSP00000386135:R1130H;ENSP00000419026:R1064H	ENSP00000350785:R1130H	R	+	2	0	DAPK1	89511195	1.000000	0.71417	0.941000	0.38009	0.516000	0.34256	7.765000	0.85310	1.424000	0.47217	0.561000	0.74099	CGC		0.612	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		3	31	0	0	0	1	0	3	31				
TLR5	7100	broad.mit.edu	37	1	223285772	223285772	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr1:223285772A>T	ENST00000540964.1	-	4	1063	c.602T>A	c.(601-603)tTt>tAt	p.F201Y	TLR5_ENST00000342210.6_Missense_Mutation_p.F201Y			O60602	TLR5_HUMAN	toll-like receptor 5	201					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TGCGAGGCTAAAAAAGGAGAG	0.418																																						ENST00000540964.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(601-603)tTt>tAt		toll-like receptor 5							60.0	61.0	61.0					1																	223285772		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285772A>T		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.602T>A	1.37:g.223285772A>T	ENSP00000440643:p.Phe201Tyr					TLR5_ENST00000342210.6_Missense_Mutation_p.F201Y	p.F201Y			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	1063	-			201					B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.602T>A	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.453610	0.84209	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	D;D;D	0.83992	-1.79;-1.79;-1.79	5.09	5.09	0.68999	.	0.438610	0.25523	N	0.030085	D	0.87229	0.6125	M	0.63843	1.955	0.19945	N	0.999944	B	0.24675	0.109	P	0.44394	0.448	T	0.82376	-0.0488	10	0.87932	D	0	.	14.8773	0.70504	1.0:0.0:0.0:0.0	.	201	O60602	TLR5_HUMAN	Y	201	ENSP00000440643:F201Y;ENSP00000355846:F201Y;ENSP00000340089:F201Y	ENSP00000340089:F201Y	F	-	2	0	TLR5	221352395	0.972000	0.33761	0.002000	0.10522	0.004000	0.04260	8.552000	0.90682	1.902000	0.55061	0.482000	0.46254	TTT		0.418	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		19	92	0	0	0	1	0	19	92				
TMEM63A	9725	broad.mit.edu	37	1	226059715	226059715	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr1:226059715G>C	ENST00000366835.3	-	5	575	c.305C>G	c.(304-306)tCa>tGa	p.S102*		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	102					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)	p.S102*(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TTGTTGACCTGAGGAGGAAGT	0.438																																						ENST00000366835.3																			1	Substitution - Nonsense(1)	p.S102*(1)	upper_aerodigestive_tract(1)	breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(304-306)tCa>tGa		transmembrane protein 63A							115.0	95.0	102.0					1																	226059715		2203	4300	6503	SO:0001587	stop_gained	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226059715G>C		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.305C>G	1.37:g.226059715G>C	ENSP00000355800:p.Ser102*						p.S102*	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			5	575	-	Breast(184;0.197)		102					Q53GI7|Q5TE96|Q8N2U2	Nonsense_Mutation	SNP	ENST00000366835.3	37	c.305C>G	CCDS31042.1	.	.	.	.	.	.	.	.	.	.	G	35	5.525098	0.96431	.	.	ENSG00000196187	ENST00000366835;ENST00000436966	.	.	.	5.08	0.924	0.19418	.	0.925114	0.09165	N	0.839691	.	.	.	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	0.3159	3.9443	0.09341	0.2772:0.0:0.5586:0.1642	.	.	.	.	X	102	.	ENSP00000355800:S102X	S	-	2	0	TMEM63A	224126338	0.282000	0.24268	0.147000	0.22382	0.995000	0.86356	0.617000	0.24359	-0.014000	0.14175	0.549000	0.68633	TCA		0.438	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		4	68	0	0	0	1	0	4	68				
SPG11	80208	broad.mit.edu	37	15	44864886	44864886	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr15:44864886G>C	ENST00000261866.7	-	33	6354	c.6338C>G	c.(6337-6339)tCt>tGt	p.S2113C	SPG11_ENST00000535302.2_Missense_Mutation_p.S2000C|SPG11_ENST00000427534.2_Missense_Mutation_p.S2113C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2113					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTTACTGCAAGACAGTTCCCC	0.453																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(6337-6339)tCt>tGt		spastic paraplegia 11 (autosomal recessive)							140.0	113.0	122.0					15																	44864886		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44864886G>C		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6338C>G	15.37:g.44864886G>C	ENSP00000261866:p.Ser2113Cys					SPG11_ENST00000535302.2_Missense_Mutation_p.S2000C|SPG11_ENST00000427534.2_Missense_Mutation_p.S2113C	p.S2113C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	33	6354	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	2113					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.6338C>G	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049822	0.55218	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.79247	-1.25;-0.95;-0.98	5.41	5.41	0.78517	.	0.568211	0.19926	N	0.102961	D	0.86797	0.6019	M	0.73598	2.24	0.80722	D	1	D;D;D	0.67145	0.996;0.99;0.996	P;P;P	0.61477	0.889;0.789;0.889	D	0.87861	0.2664	10	0.87932	D	0	.	17.3435	0.87304	0.0:0.0:1.0:0.0	.	2113;2000;2113	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	C	2113;2000;2113	ENSP00000261866:S2113C;ENSP00000445278:S2000C;ENSP00000396110:S2113C	ENSP00000261866:S2113C	S	-	2	0	SPG11	42652178	0.299000	0.24426	0.902000	0.35471	0.987000	0.75469	2.997000	0.49457	2.709000	0.92574	0.655000	0.94253	TCT		0.453	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			12	79	0	0	0	1	0	12	79				
GEMIN4	50628	broad.mit.edu	37	17	650236	650236	+	Missense_Mutation	SNP	G	G	C	rs201463934	byFrequency	TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr17:650236G>C	ENST00000319004.5	-	2	1165	c.1047C>G	c.(1045-1047)tgC>tgG	p.C349W	GEMIN4_ENST00000576778.1_Missense_Mutation_p.C338W|GEMIN4_ENST00000437269.1_3'UTR	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	349					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCAGACTGTCGCACAGCCGGT	0.642																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1012-1014)tgC>tgG		gem (nuclear organelle) associated protein 4							63.0	68.0	66.0					17																	650236		2127	4229	6356	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:650236G>C	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1047C>G	17.37:g.650236G>C	ENSP00000321706:p.Cys349Trp					GEMIN4_ENST00000319004.5_Missense_Mutation_p.C349W|GEMIN4_ENST00000437269.1_3'UTR	p.C338W			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	2355	-		Myeloproliferative disorder(207;0.204)	349					Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.1014C>G	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466992	0.26335	.	.	ENSG00000179409	ENST00000319004	T	0.16743	2.32	5.95	-1.87	0.07737	.	0.264513	0.36665	N	0.002470	T	0.25269	0.0614	L	0.57536	1.79	0.28998	N	0.887654	D	0.76494	0.999	D	0.69654	0.965	T	0.10064	-1.0646	10	0.62326	D	0.03	-9.1052	2.352	0.04286	0.3386:0.1035:0.3704:0.1876	.	349	P57678	GEMI4_HUMAN	W	349	ENSP00000321706:C349W	ENSP00000321706:C349W	C	-	3	2	GEMIN4	596986	0.000000	0.05858	0.994000	0.49952	0.249000	0.25844	-1.196000	0.03041	-0.039000	0.13602	-0.471000	0.05019	TGC		0.642	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		25	78	0	0	0	1	0	25	78				
AADACL4	343066	broad.mit.edu	37	1	12726598	12726598	+	Missense_Mutation	SNP	G	G	A	rs150325490		TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr1:12726598G>A	ENST00000376221.1	+	4	1076	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	359						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TATAAGAAGCGCTTGGAGGAC	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		19805	0.0		0.001	False		,,,				2504	0.0					ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(1075-1077)cGc>cAc		arylacetamide deacetylase-like 4		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	91.0	92.0	92.0		1076	2.4	0.0	1	dbSNP_134	92	0,8600		0,0,4300	no	missense	AADACL4	NM_001013630.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	359/408	12726598	1,13005	2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726598G>A		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.1076G>A	1.37:g.12726598G>A	ENSP00000365395:p.Arg359His						p.R359H	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	1076	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	359						Missense_Mutation	SNP	ENST00000376221.1	37	c.1076G>A	CCDS30590.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.37	1.918673	0.33908	2.27E-4	0.0	ENSG00000204518	ENST00000376221	T	0.13420	2.59	4.38	2.39	0.29439	Alpha/beta hydrolase fold-3 (1);	0.122706	0.48286	D	0.000200	T	0.38719	0.1051	M	0.94101	3.495	0.09310	N	0.999996	D	0.65815	0.995	P	0.60949	0.881	T	0.25187	-1.0139	10	0.87932	D	0	-14.3067	8.1188	0.30959	0.0846:0.0:0.7594:0.1559	.	359	Q5VUY2	ADCL4_HUMAN	H	359	ENSP00000365395:R359H	ENSP00000365395:R359H	R	+	2	0	AADACL4	12649185	0.297000	0.24408	0.002000	0.10522	0.010000	0.07245	3.329000	0.52060	1.043000	0.40175	0.655000	0.94253	CGC		0.493	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		69	155	0	0	0	1	0	69	155				
KLRG2	346689	broad.mit.edu	37	7	139164979	139164979	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr7:139164979C>T	ENST00000340940.4	-	2	841	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	KLRG2_ENST00000393039.2_Intron	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	258						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					AGGGACTTCACGTACATGGGT	0.567																																						ENST00000340940.4																			0				central_nervous_system(1)|large_intestine(2)|lung(3)	6						c.(772-774)Gtg>Atg		killer cell lectin-like receptor subfamily G, member 2							79.0	68.0	72.0					7																	139164979		2202	4300	6502	SO:0001583	missense	346689					integral to membrane	sugar binding	g.chr7:139164979C>T	AK126174	CCDS5854.1	7q34	2011-08-30			ENSG00000188883	ENSG00000188883		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	24778	protein-coding gene	gene with protein product	"""C-type lectin domain family 15, member B"""						Standard	XM_005250311		Approved	FLJ44186, CLEC15B	uc003vvb.3	A4D1S0	OTTHUMG00000157705	ENST00000340940.4:c.772G>A	7.37:g.139164979C>T	ENSP00000339356:p.Val258Met					KLRG2_ENST00000393039.2_Intron	p.V258M	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN			2	841	-	Melanoma(164;0.233)		258					Q2NL79|Q6ZTV6	Missense_Mutation	SNP	ENST00000340940.4	37	c.772G>A	CCDS5854.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.271962	0.00257	.	.	ENSG00000188883	ENST00000340940	T	0.18016	2.24	4.78	-2.52	0.06346	.	0.999628	0.08091	N	0.999372	T	0.04634	0.0126	N	0.02247	-0.625	0.80722	D	1	B	0.14012	0.009	B	0.08055	0.003	T	0.50491	-0.8822	10	0.02654	T	1	-3.7966	5.6107	0.17404	0.0:0.1749:0.4591:0.366	.	258	A4D1S0	KLRG2_HUMAN	M	258	ENSP00000339356:V258M	ENSP00000339356:V258M	V	-	1	0	KLRG2	138815519	0.971000	0.33674	0.957000	0.39632	0.032000	0.12392	-0.249000	0.08842	-0.540000	0.06265	-1.326000	0.01283	GTG		0.567	KLRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349433.1	NM_198508		7	49	0	0	0	1	0	7	49				
OSBPL8	114882	broad.mit.edu	37	12	76786408	76786408	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr12:76786408G>C	ENST00000261183.3	-	10	1361	c.882C>G	c.(880-882)ttC>ttG	p.F294L	OSBPL8_ENST00000393249.2_Missense_Mutation_p.F252L|OSBPL8_ENST00000393250.4_Missense_Mutation_p.F252L	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	294					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						GTAAGCCATAGAAAGTCACAT	0.413																																						ENST00000261183.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.(880-882)ttC>ttG		oxysterol binding protein-like 8							259.0	200.0	220.0					12																	76786408		2203	4300	6503	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76786408G>C	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.882C>G	12.37:g.76786408G>C	ENSP00000261183:p.Phe294Leu					OSBPL8_ENST00000393250.4_Missense_Mutation_p.F252L|OSBPL8_ENST00000393249.2_Missense_Mutation_p.F252L	p.F294L	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN			10	1361	-			294					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.882C>G	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	5.978	0.364329	0.11296	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.39787	1.69;1.68;1.69;1.06;1.07	5.63	3.65	0.41850	.	0.276753	0.41001	N	0.000980	T	0.17152	0.0412	N	0.04203	-0.255	0.50467	D	0.999879	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09596	-1.0667	10	0.06494	T	0.89	-1.4134	9.923	0.41474	0.116:0.4332:0.4508:0.0	.	269;294	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	L	252;294;279;252;294;294;269	ENSP00000376939:F252L;ENSP00000261183:F294L;ENSP00000376940:F252L;ENSP00000450238:F294L;ENSP00000447893:F269L	ENSP00000261183:F294L	F	-	3	2	OSBPL8	75310539	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.379000	0.34340	1.510000	0.48803	-0.147000	0.13772	TTC		0.413	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		5	81	0	0	0	1	0	5	81				
ZNF99	7652	broad.mit.edu	37	19	22940555	22940555	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr19:22940555G>A	ENST00000596209.1	-	4	2246	c.2156C>T	c.(2155-2157)aCt>aTt	p.T719I	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.T628I	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	719					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T628N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTTCTAAGAGTTGAGGACTG	0.358																																						ENST00000397104.3																			1	Substitution - Missense(1)	p.T628N(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1882-1884)aCt>aTt		zinc finger protein 99							41.0	44.0	43.0					19																	22940555		2080	4219	6299	SO:0001583	missense	7652							g.chr19:22940555G>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2156C>T	19.37:g.22940555G>A	ENSP00000472969:p.Thr719Ile					ZNF99_ENST00000596209.1_Missense_Mutation_p.T719I	p.T628I							5	1882	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1883C>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	3.474	-0.107238	0.06924	.	.	ENSG00000213973	ENST00000397104	T	0.07567	3.18	0.543	-1.09	0.09904	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	L	0.31065	0.9	0.09310	N	1	P	0.39326	0.668	B	0.38458	0.274	T	0.36212	-0.9757	9	0.19590	T	0.45	.	2.7923	0.05391	0.0:0.216:0.2751:0.5088	.	628	A8MXY4	ZNF99_HUMAN	I	628	ENSP00000380293:T628I	ENSP00000380293:T628I	T	-	2	0	ZNF99	22732395	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.137000	0.01304	-0.561000	0.06094	-0.755000	0.03482	ACT		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		17	60	0	0	0	1	0	17	60				
DEF8	54849	broad.mit.edu	37	16	90025437	90025437	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr16:90025437G>A	ENST00000268676.7	+	6	660	c.571G>A	c.(571-573)Gag>Aag	p.E191K	DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000418391.2_Missense_Mutation_p.E130K|DEF8_ENST00000567874.1_Missense_Mutation_p.E70K|DEF8_ENST00000570182.1_Missense_Mutation_p.E120K|DEF8_ENST00000563594.1_Missense_Mutation_p.E130K|DEF8_ENST00000563795.1_Missense_Mutation_p.E130K|DEF8_ENST00000569453.1_Missense_Mutation_p.E130K	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	191					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CAATGAGGATGAGCCAAACAT	0.542																																						ENST00000563594.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(388-390)Gag>Aag		differentially expressed in FDCP 8 homolog (mouse)							127.0	124.0	125.0					16																	90025437		2198	4300	6498	SO:0001583	missense	54849				intracellular signal transduction		zinc ion binding	g.chr16:90025437G>A	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.571G>A	16.37:g.90025437G>A	ENSP00000268676:p.Glu191Lys					DEF8_ENST00000268676.7_Missense_Mutation_p.E191K|DEF8_ENST00000418391.2_Missense_Mutation_p.E130K|DEF8_ENST00000570182.1_Missense_Mutation_p.E120K|DEF8_ENST00000563795.1_Missense_Mutation_p.E130K|DEF8_ENST00000569453.1_Missense_Mutation_p.E130K|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000567874.1_Missense_Mutation_p.E70K	p.E130K	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	6	1385	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	191					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	37	c.388G>A	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405267	0.83230	.	.	ENSG00000140995	ENST00000268676;ENST00000418391	T;D	0.84298	0.89;-1.83	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	D	0.88894	0.6561	M	0.74258	2.255	0.80722	D	1	D;P;D;P	0.62365	0.991;0.947;0.966;0.849	P;P;B;P	0.52217	0.693;0.58;0.376;0.65	D	0.90106	0.4188	10	0.51188	T	0.08	-21.1076	16.6611	0.85241	0.0:0.0:1.0:0.0	.	130;120;191;130	Q6ZN54-5;Q6ZN54-3;Q6ZN54;Q6ZN54-2	.;.;DEFI8_HUMAN;.	K	191;130	ENSP00000268676:E191K;ENSP00000412784:E130K	ENSP00000268676:E191K	E	+	1	0	DEF8	88552938	1.000000	0.71417	0.992000	0.48379	0.556000	0.35491	8.998000	0.93550	2.063000	0.61619	0.462000	0.41574	GAG		0.542	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		11	153	0	0	0	1	0	11	153				
MYOC	4653	broad.mit.edu	37	1	171621695	171621695	+	Missense_Mutation	SNP	C	C	A	rs2234925	byFrequency	TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr1:171621695C>A	ENST00000037502.6	-	1	128	c.57G>T	c.(55-57)caG>caT	p.Q19H		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	19			Q -> H (in dbSNP:rs2234925). {ECO:0000269|PubMed:10980537}.		bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GAAGCAGCAGCTGGACAGCTG	0.587													C|||	6	0.00119808	0.0	0.0	5008	,	,		18990	0.006		0.0	False		,,,				2504	0.0					ENST00000037502.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	GRCh37	CM057724	MYOC	M	rs2234925	c.(55-57)caG>caT		myocilin, trabecular meshwork inducible glucocorticoid response							53.0	48.0	50.0					1																	171621695		2203	4300	6503	SO:0001583	missense	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171621695C>A	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.57G>T	1.37:g.171621695C>A	ENSP00000037502:p.Gln19His						p.Q19H	NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN			1	116	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		19		Q -> H (in dbSNP:rs2234925).			B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	37	c.57G>T	CCDS1297.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	13.30	2.194829	0.38806	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000537133	T	0.58652	0.32	5.85	3.95	0.45737	.	0.738577	0.13559	N	0.378930	T	0.34774	0.0909	M	0.62723	1.935	0.23204	N	0.998121	B;B	0.12630	0.001;0.006	B;B	0.10450	0.002;0.005	T	0.37197	-0.9716	10	0.48119	T	0.1	.	9.7683	0.40574	0.1579:0.6902:0.1519:0.0	rs2234925	19;19	B4DV44;Q99972	.;MYOC_HUMAN	H	19	ENSP00000037502:Q19H	ENSP00000037502:Q19H	Q	-	3	2	MYOC	169888318	0.999000	0.42202	0.946000	0.38457	0.982000	0.71751	0.586000	0.23894	0.768000	0.33290	0.655000	0.94253	CAG		0.587	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		10	38	1	0	0.000442599	1	0.000477177	10	38				
AGK	55750	broad.mit.edu	37	7	141315327	141315327	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr7:141315327G>C	ENST00000355413.4	+	8	740	c.480G>C	c.(478-480)ttG>ttC	p.L160F	AGK_ENST00000535825.1_Missense_Mutation_p.L157F|AGK_ENST00000473247.1_Missense_Mutation_p.L132F	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	160	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CCAGTAGTTTGAGTCATACCC	0.433																																						ENST00000355413.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17						c.(478-480)ttG>ttC		acylglycerol kinase							181.0	181.0	181.0					7																	141315327		2203	4300	6503	SO:0001583	missense	55750				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	g.chr7:141315327G>C	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.480G>C	7.37:g.141315327G>C	ENSP00000347581:p.Leu160Phe					AGK_ENST00000473247.1_Missense_Mutation_p.L132F|AGK_ENST00000535825.1_Missense_Mutation_p.L157F	p.L160F	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN			8	740	+	Melanoma(164;0.0171)		160			DAGKc.		Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	c.480G>C	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356355	0.61293	.	.	ENSG00000006530	ENST00000355413;ENST00000473247;ENST00000535825	T;T;T	0.19250	2.16;2.16;2.16	5.2	3.35	0.38373	ATP-NAD kinase, PpnK-type, alpha/beta (1);Diacylglycerol kinase, catalytic domain (3);	0.000000	0.64402	D	0.000001	T	0.19565	0.0470	N	0.20328	0.56	0.47153	D	0.999331	P	0.47604	0.898	P	0.53722	0.733	T	0.03034	-1.1080	10	0.48119	T	0.1	.	5.9059	0.19001	0.1648:0.3015:0.5337:0.0	.	160	Q53H12	AGK_HUMAN	F	160;132;157	ENSP00000347581:L160F;ENSP00000420776:L132F;ENSP00000444349:L157F	ENSP00000347581:L160F	L	+	3	2	AGK	140961796	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.104000	0.41815	0.662000	0.31006	0.591000	0.81541	TTG		0.433	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		8	196	0	0	0	1	0	8	196				
CPLX1	10815	broad.mit.edu	37	4	780459	780459	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr4:780459C>T	ENST00000304062.6	-	4	466	c.235G>A	c.(235-237)Gag>Aag	p.E79K	CPLX1_ENST00000505203.1_Missense_Mutation_p.E58K	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	79					exocytosis (GO:0006887)|glutamate secretion (GO:0014047)|insulin secretion (GO:0030073)|neurotransmitter secretion (GO:0007269)|regulation of exocytosis (GO:0017157)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)	neurotransmitter transporter activity (GO:0005326)			kidney(1)|lung(2)	3				Colorectal(103;0.187)		GCCTCGGCCTCGCGCTCCTCC	0.756																																						ENST00000304062.6																			0				kidney(1)|lung(2)	3						c.(235-237)Gag>Aag		complexin 1							26.0	32.0	30.0					4																	780459		2162	4273	6435	SO:0001583	missense	10815				glutamate secretion	cytosol		g.chr4:780459C>T	AF022383	CCDS46995.1	4p16.3	2008-08-07			ENSG00000168993	ENSG00000168993			2309	protein-coding gene	gene with protein product		605032				7553862	Standard	NM_006651		Approved	CPX-I	uc003gbi.3	O14810	OTTHUMG00000160005	ENST00000304062.6:c.235G>A	4.37:g.780459C>T	ENSP00000305613:p.Glu79Lys					CPLX1_ENST00000505203.1_Missense_Mutation_p.E58K	p.E79K	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN		Colorectal(103;0.187)	4	466	-			79					A6NI80|B2R4R5|D3DVN3|F1T0G1	Missense_Mutation	SNP	ENST00000304062.6	37	c.235G>A	CCDS46995.1	.	.	.	.	.	.	.	.	.	.	c	29.9	5.042366	0.93685	.	.	ENSG00000168993	ENST00000304062;ENST00000505203;ENST00000504062;ENST00000513195	.	.	.	3.48	3.48	0.39840	.	.	.	.	.	T	0.75953	0.3920	M	0.78456	2.415	0.58432	D	0.999999	D;D	0.61080	0.989;0.989	D;D	0.71656	0.974;0.974	T	0.75596	-0.3263	8	0.33141	T	0.24	.	12.4885	0.55886	0.0:1.0:0.0:0.0	.	58;79	D6RI11;O14810	.;CPLX1_HUMAN	K	79;58;64;162	.	ENSP00000305613:E79K	E	-	1	0	CPLX1	770459	1.000000	0.71417	0.964000	0.40570	0.994000	0.84299	5.518000	0.67068	1.773000	0.52216	0.506000	0.49869	GAG		0.756	CPLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358830.1			4	37	0	0	0	1	0	4	37				
CHRAC1	54108	broad.mit.edu	37	8	141525224	141525224	+	Splice_Site	SNP	G	G	A			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr8:141525224G>A	ENST00000220913.5	+	3	476		c.e3-1		CHRAC1_ENST00000519533.1_Splice_Site	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1						chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)	CHRAC (GO:0008623)|epsilon DNA polymerase complex (GO:0008622)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			ATGTTTTTAAGATATATTACC	0.333																																						ENST00000220913.5																			0				ovary(2)	2						c.e3-1		chromatin accessibility complex 1							85.0	87.0	87.0					8																	141525224		2203	4300	6503	SO:0001630	splice_region_variant	54108				chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding	g.chr8:141525224G>A	AF226076	CCDS6379.1	8q24.3	2008-08-07				ENSG00000104472			13544	protein-coding gene	gene with protein product	"""histone-fold protein CHRAC15"""	607268				10880450, 11000277	Standard	NM_017444		Approved	CHRAC15, YCL1	uc003yvl.3	Q9NRG0		ENST00000220913.5:c.275-1G>A	8.37:g.141525224G>A						CHRAC1_ENST00000519533.1_Splice_Site		NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.107)		3	476	+	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)								Splice_Site	SNP	ENST00000220913.5	37		CCDS6379.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582101	0.65992	.	.	ENSG00000104472	ENST00000220913;ENST00000519533;ENST00000519618	.	.	.	5.51	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0973	0.72244	0.0:0.0:0.8576:0.1424	.	.	.	.	.	-1	.	.	.	+	.	.	CHRAC1	141594406	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.295000	0.72744	2.572000	0.86782	0.563000	0.77884	.		0.333	CHRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377816.1	NM_017444	Intron	6	88	0	0	0	1	0	6	88				
FKBP9	11328	broad.mit.edu	37	7	33020103	33020103	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr7:33020103T>G	ENST00000242209.4	+	5	1000	c.831T>G	c.(829-831)agT>agG	p.S277R	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538443.1_Missense_Mutation_p.S139R|FKBP9_ENST00000490776.2_Missense_Mutation_p.S45R|FKBP9_ENST00000538336.1_Missense_Mutation_p.S330R	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	277					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TAAGTCAAAGTGGGGACTTTC	0.428																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(829-831)agT>agG		FK506 binding protein 9, 63 kDa							153.0	142.0	146.0					7																	33020103		2203	4300	6503	SO:0001583	missense	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33020103T>G	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.831T>G	7.37:g.33020103T>G	ENSP00000242209:p.Ser277Arg					FKBP9_ENST00000538443.1_Missense_Mutation_p.S139R|FKBP9_ENST00000490776.2_Missense_Mutation_p.S45R|FKBP9_ENST00000489038.1_3'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.S330R	p.S277R	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		5	1000	+			277					B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	c.831T>G	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.691194	0.30052	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000418354;ENST00000490776	D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02	5.06	-10.1	0.00402	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.410909	0.28977	N	0.013537	T	0.62171	0.2406	N	0.12637	0.245	0.30369	N	0.783027	B;P;B;P	0.41624	0.427;0.757;0.293;0.459	B;P;B;B	0.44422	0.305;0.449;0.435;0.295	T	0.67205	-0.5729	10	0.20046	T	0.44	-18.7745	3.5707	0.07916	0.09:0.3515:0.1685:0.3901	.	45;330;277;277	B7Z1G9;B7Z6H3;O95302;B3KQQ0	.;.;FKBP9_HUMAN;.	R	277;330;139;45;45	ENSP00000242209:S277R;ENSP00000439250:S330R;ENSP00000437504:S139R;ENSP00000391034:S45R;ENSP00000441317:S45R	ENSP00000242209:S277R	S	+	3	2	FKBP9	32986628	0.000000	0.05858	0.632000	0.29296	0.787000	0.44495	-3.063000	0.00622	-1.779000	0.01280	-1.663000	0.00750	AGT		0.428	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		8	176	0	0	0	1	0	8	176				
UBXN2A	165324	broad.mit.edu	37	2	24194237	24194237	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr2:24194237C>G	ENST00000309033.4	+	3	377	c.133C>G	c.(133-135)Cag>Gag	p.Q45E	UBXN2A_ENST00000404924.1_Missense_Mutation_p.Q45E|UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000535786.1_Missense_Mutation_p.Q45E	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	45					regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						TGAGGAAGCTCAGAAGGTTAG	0.338																																						ENST00000309033.4																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						c.(133-135)Cag>Gag		UBX domain protein 2A							128.0	135.0	133.0					2																	24194237		2203	4300	6503	SO:0001583	missense	165324							g.chr2:24194237C>G	BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"""UBX domain containing"""	27265	protein-coding gene	gene with protein product			"""UBX domain containing 4"""	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.133C>G	2.37:g.24194237C>G	ENSP00000312107:p.Gln45Glu					UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000535786.1_Missense_Mutation_p.Q45E|UBXN2A_ENST00000404924.1_Missense_Mutation_p.Q45E	p.Q45E	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN			3	377	+			45					A8K577|B7ZKP8|Q569G8	Missense_Mutation	SNP	ENST00000309033.4	37	c.133C>G	CCDS1704.1	.	.	.	.	.	.	.	.	.	.	C	2.627	-0.287228	0.05605	.	.	ENSG00000173960	ENST00000404924;ENST00000309033;ENST00000535786	T;T;T	0.44482	0.96;0.96;0.92	4.43	1.42	0.22433	.	0.228496	0.44688	N	0.000426	T	0.19604	0.0471	N	0.11560	0.145	0.21416	N	0.999698	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.27020	-1.0086	10	0.02654	T	1	11.1942	13.5455	0.61702	0.0:0.529:0.471:0.0	.	45;45	B7ZKP8;P68543	.;UBX2A_HUMAN	E	45	ENSP00000385525:Q45E;ENSP00000312107:Q45E;ENSP00000440533:Q45E	ENSP00000312107:Q45E	Q	+	1	0	UBXN2A	24047741	0.997000	0.39634	0.836000	0.33094	0.935000	0.57460	1.018000	0.30002	0.162000	0.19483	0.644000	0.83932	CAG		0.338	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246824.2	NM_181713		9	110	0	0	0	1	0	9	110				
HUWE1	10075	broad.mit.edu	37	X	53563554	53563554	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chrX:53563554C>T	ENST00000342160.3	-	78	12669	c.12212G>A	c.(12211-12213)cGa>cAa	p.R4071Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4071Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4071	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAACATCTCTCGAGAGATGAT	0.483																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(12211-12213)cGa>cAa		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							135.0	110.0	119.0					X																	53563554		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53563554C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12212G>A	X.37:g.53563554C>T	ENSP00000340648:p.Arg4071Gln					HUWE1_ENST00000262854.6_Missense_Mutation_p.R4071Q	p.R4071Q			Q7Z6Z7	HUWE1_HUMAN			78	12669	-			4071			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.12212G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586844	0.66105	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.59364	0.27;0.27	5.5	5.5	0.81552	HECT (4);	0.000000	0.64402	D	0.000001	T	0.73040	0.3536	L	0.58101	1.795	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.71870	0.963;0.975	T	0.75531	-0.3285	10	0.87932	D	0	.	17.3423	0.87301	0.0:1.0:0.0:0.0	.	4071;4055	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	Q	4071	ENSP00000340648:R4071Q;ENSP00000262854:R4071Q	ENSP00000262854:R4071Q	R	-	2	0	HUWE1	53580279	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.232000	0.78116	2.450000	0.82876	0.594000	0.82650	CGA		0.483	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		6	53	0	0	0	1	0	6	53				
CEACAM7	1087	broad.mit.edu	37	19	42190921	42190921	+	Missense_Mutation	SNP	C	C	T	rs201544117		TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr19:42190921C>T	ENST00000006724.3	-	2	497	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	CEACAM7_ENST00000338196.4_Missense_Mutation_p.R99Q|CEACAM7_ENST00000401731.1_Missense_Mutation_p.R99Q|CEACAM7_ENST00000602225.1_Missense_Mutation_p.R99Q|CEACAM7_ENST00000599715.1_5'UTR	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	99	Ig-like V-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TATTGTCTCTCGACCGTTGTG	0.433																																						ENST00000006724.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(295-297)cGa>cAa		carcinoembryonic antigen-related cell adhesion molecule 7		C	GLN/ARG	0,4406		0,0,2203	189.0	197.0	194.0		296	0.6	0.0	19		194	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CEACAM7	NM_006890.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	99/266	42190921	1,13005	2203	4300	6503	SO:0001583	missense	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42190921C>T	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.296G>A	19.37:g.42190921C>T	ENSP00000006724:p.Arg99Gln					CEACAM7_ENST00000401731.1_Missense_Mutation_p.R99Q|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000602225.1_Missense_Mutation_p.R99Q|CEACAM7_ENST00000338196.4_Missense_Mutation_p.R99Q	p.R99Q	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	2	497	-			99			Ig-like V-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	c.296G>A	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079970	0.36662	0.0	1.16E-4	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196	T;T;T	0.72282	-0.64;-0.64;-0.64	1.68	0.61	0.17580	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84147	0.5408	M	0.93420	3.415	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.73708	0.981;0.976	T	0.70360	-0.4893	9	0.72032	D	0.01	.	4.1659	0.10306	0.0:0.7792:0.0:0.2208	.	99;99	Q14002-2;Q14002	.;CEAM7_HUMAN	Q	99;78;99;99	ENSP00000006724:R99Q;ENSP00000385932:R99Q;ENSP00000343286:R99Q	ENSP00000006724:R99Q	R	-	2	0	CEACAM7	46882761	0.027000	0.19231	0.001000	0.08648	0.008000	0.06430	1.243000	0.32767	0.263000	0.21812	0.313000	0.20887	CGA		0.433	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		11	282	0	0	0	1	0	11	282				
PRDM2	7799	broad.mit.edu	37	1	14106511	14106511	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr1:14106511C>T	ENST00000235372.7	+	8	3077	c.2221C>T	c.(2221-2223)Ccc>Tcc	p.P741S	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.P540S|PRDM2_ENST00000343137.4_Missense_Mutation_p.P540S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P741S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	741					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CAGCTCTCCTCCCAGTTCTCC	0.502																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(2221-2223)Ccc>Tcc		PR domain containing 2, with ZNF domain							93.0	91.0	92.0					1																	14106511		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14106511C>T	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2221C>T	1.37:g.14106511C>T	ENSP00000235372:p.Pro741Ser					PRDM2_ENST00000311066.5_Missense_Mutation_p.P741S|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.P540S|PRDM2_ENST00000413440.1_Missense_Mutation_p.P540S|PRDM2_ENST00000503842.1_Intron	p.P741S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	3077	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	741					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.2221C>T	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496884	0.64186	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.02158	4.55;4.44;4.42;4.42	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.13628	0.0330	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.946;0.999;0.973;0.975	T	0.00017	-1.2377	10	0.87932	D	0	.	18.5649	0.91113	0.0:1.0:0.0:0.0	.	741;599;741;741	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	S	741;741;741;540;540	ENSP00000235372:P741S;ENSP00000312352:P741S;ENSP00000411103:P540S;ENSP00000341621:P540S	ENSP00000235372:P741S	P	+	1	0	PRDM2	13979098	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	7.373000	0.79623	2.793000	0.96121	0.655000	0.94253	CCC		0.502	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		6	132	0	0	0	1	0	6	132				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	48	0	0	0	1	0	4	48				
POMGNT2	84892	broad.mit.edu	37	3	43121309	43121309	+	Silent	SNP	G	G	A			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr3:43121309G>A	ENST00000344697.2	-	2	1960	c.1615C>T	c.(1615-1617)Ctg>Ttg	p.L539L	POMGNT2_ENST00000441964.1_Silent_p.L539L	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	539	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										TGCAGAGCCAGGATGTAAGGC	0.552																																						ENST00000344697.2																			0											c.(1615-1617)Ctg>Ttg									129.0	98.0	109.0					3																	43121309		2203	4300	6503	SO:0001819	synonymous_variant	84892							g.chr3:43121309G>A	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.1615C>T	3.37:g.43121309G>A						GTDC2_ENST00000441964.1_Silent_p.L539L	p.L539L	NM_032806.4	NP_116195.2					2	1960	-								B3KWC3|Q96SY3	Silent	SNP	ENST00000344697.2	37	c.1615C>T	CCDS2709.1																																																																																				0.552	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806		5	103	0	0	0	1	0	5	103				
ENPP1	5167	broad.mit.edu	37	6	132181556	132181556	+	Silent	SNP	C	C	T	rs369580462		TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr6:132181556C>T	ENST00000360971.2	+	8	845	c.825C>T	c.(823-825)atC>atT	p.I275I		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	275	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ATGGCATAATCGACAATAAAA	0.303																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.(823-825)atC>atT		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)	C		0,4406		0,0,2203	60.0	62.0	62.0		825	3.9	1.0	6		62	1,8579	1.2+/-3.3	0,1,4289	no	coding-synonymous	ENPP1	NM_006208.2		0,1,6492	TT,TC,CC		0.0117,0.0,0.0077		275/926	132181556	1,12985	2203	4290	6493	SO:0001819	synonymous_variant	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132181556C>T	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.825C>T	6.37:g.132181556C>T							p.I275I	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	8	845	+	Breast(56;0.0505)		275			Phosphodiesterase.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Silent	SNP	ENST00000360971.2	37	c.825C>T	CCDS5150.2																																																																																				0.303	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			4	13	0	0	0	1	0	4	13				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	38	0	0	0	1	0	4	38				
SBNO2	22904	broad.mit.edu	37	19	1123582	1123582	+	Silent	SNP	C	C	T			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr19:1123582C>T	ENST00000361757.3	-	7	816	c.579G>A	c.(577-579)gcG>gcA	p.A193A	SBNO2_ENST00000438103.2_Silent_p.A136A|SBNO2_ENST00000587024.1_Silent_p.A193A	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	193	Poly-Glu.				bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGctcctccgcctcctcct	0.662																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(577-579)gcG>gcA		strawberry notch homolog 2 (Drosophila)							69.0	73.0	72.0					19																	1123582		2195	4289	6484	SO:0001819	synonymous_variant	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1123582C>T	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.579G>A	19.37:g.1123582C>T						SBNO2_ENST00000438103.2_Silent_p.A136A|SBNO2_ENST00000587024.1_Silent_p.A193A	p.A193A	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	816	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	193			Poly-Glu.		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	c.579G>A	CCDS45894.1																																																																																				0.662	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		3	20	0	0	0	1	0	3	20				
PTPN3	5774	broad.mit.edu	37	9	112166752	112166752	+	Silent	SNP	G	G	A			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr9:112166752G>A	ENST00000374541.2	-	19	2033	c.1929C>T	c.(1927-1929)agC>agT	p.S643S	PTPN3_ENST00000262539.3_Silent_p.S489S|PTPN3_ENST00000394827.3_Silent_p.S111S|PTPN3_ENST00000412145.1_Silent_p.S512S|PTPN3_ENST00000446349.1_Silent_p.S467S	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	643					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCACCGTCCCGCTTTCGAGGC	0.572																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1534-1536)agC>agT		protein tyrosine phosphatase, non-receptor type 3							100.0	89.0	92.0					9																	112166752		2203	4300	6503	SO:0001819	synonymous_variant	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112166752G>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1929C>T	9.37:g.112166752G>A						PTPN3_ENST00000394827.3_Silent_p.S111S|PTPN3_ENST00000262539.3_Silent_p.S489S|PTPN3_ENST00000446349.1_Silent_p.S467S|PTPN3_ENST00000374541.2_Silent_p.S643S	p.S512S	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			14	4089	-			643			PDZ.		A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.1536C>T	CCDS6776.1																																																																																				0.572	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			5	58	0	0	0	1	0	5	58				
ZXDC	79364	broad.mit.edu	37	3	126189852	126189852	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr3:126189852G>A	ENST00000389709.3	-	4	1209	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W	ZXDC_ENST00000336332.5_Missense_Mutation_p.R386W	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	386					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GTAAACCTCCGGTCATCGTCA	0.458																																						ENST00000389709.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1156-1158)Cgg>Tgg		ZXD family zinc finger C							62.0	68.0	66.0					3																	126189852		2191	4291	6482	SO:0001583	missense	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126189852G>A	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1156C>T	3.37:g.126189852G>A	ENSP00000374359:p.Arg386Trp					ZXDC_ENST00000336332.5_Missense_Mutation_p.R386W	p.R386W	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	4	1209	-			386					C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	c.1156C>T	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659657	0.47572	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.17054	2.3;2.3	4.62	3.67	0.42095	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.42494	0.1205	M	0.83312	2.635	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.44877	-0.9299	10	0.87932	D	0	-24.6092	11.4343	0.50060	0.0:0.0:0.819:0.181	.	386;386	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	W	386	ENSP00000374359:R386W;ENSP00000337694:R386W	ENSP00000337694:R386W	R	-	1	2	ZXDC	127672542	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	3.411000	0.52672	2.273000	0.75805	0.491000	0.48974	CGG		0.458	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		12	62	0	0	0	1	0	12	62				
ATP10B	23120	broad.mit.edu	37	5	159992577	159992577	+	Silent	SNP	G	G	A	rs112214351		TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr5:159992577G>A	ENST00000327245.5	-	26	5115	c.4269C>T	c.(4267-4269)tcC>tcT	p.S1423S		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1423					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTGCTCCCCGGATGAGAGTT	0.557																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(4267-4269)tcC>tcT		ATPase, class V, type 10B		G		0,4078		0,0,2039	114.0	120.0	118.0		4269	-11.2	0.0	5	dbSNP_132	118	1,8377		0,1,4188	no	coding-synonymous	ATP10B	NM_025153.2		0,1,6227	AA,AG,GG		0.0119,0.0,0.0080		1423/1462	159992577	1,12455	2039	4189	6228	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:159992577G>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.4269C>T	5.37:g.159992577G>A							p.S1423S	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	5115	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1423					Q9H725	Silent	SNP	ENST00000327245.5	37	c.4269C>T	CCDS43394.1																																																																																				0.557	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		25	124	0	0	0	1	0	25	124				
PRSS3P2	154754	broad.mit.edu	37	7	142480063	142480063	+	RNA	SNP	C	C	A	rs202169021	byFrequency	TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr7:142480063C>A	ENST00000603901.1	+	0	195					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GTCACTGCTACAAGCCGTAAG	0.567																																						ENST00000603901.1																			0																				28.0	25.0	26.0					7																	142480063		692	1591	2283			154754							g.chr7:142480063C>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142480063C>A								NR_001296.3						0	195	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.567	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		8	45	1	0	3.03874e-20	1	3.49455e-20	8	45				
INADL	10207	broad.mit.edu	37	1	62274164	62274164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr1:62274164C>T	ENST00000371158.2	+	14	1759	c.1645C>T	c.(1645-1647)Cag>Tag	p.Q549*	INADL_ENST00000316485.6_Nonsense_Mutation_p.Q549*	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	549					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTTGGACACACAGATTGCAGA	0.284																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(1645-1647)Cag>Tag		InaD-like (Drosophila)							84.0	90.0	88.0					1																	62274164		2203	4300	6503	SO:0001587	stop_gained	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62274164C>T	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1645C>T	1.37:g.62274164C>T	ENSP00000360200:p.Gln549*					INADL_ENST00000316485.6_Nonsense_Mutation_p.Q549*	p.Q549*	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			14	1759	+			549					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Nonsense_Mutation	SNP	ENST00000371158.2	37	c.1645C>T	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	41	9.040339	0.99046	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	.	.	.	5.98	5.07	0.68467	.	0.089671	0.41712	D	0.000828	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	12.208	0.54363	0.1349:0.7354:0.1296:0.0	.	.	.	.	X	549	.	ENSP00000255202:Q549X	Q	+	1	0	INADL	62046752	0.994000	0.37717	0.999000	0.59377	0.994000	0.84299	2.318000	0.43779	1.527000	0.49086	0.591000	0.81541	CAG		0.284	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		3	28	0	0	0	1	0	3	28				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			96610							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G								NR_027293.1						0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	27	0	0	0	1	0	4	27				
TGFBR2	7048	broad.mit.edu	37	3	30732969	30732969	+	Missense_Mutation	SNP	C	C	T	rs104893810		TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr3:30732969C>T	ENST00000295754.5	+	7	1964	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	528	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in LDS2). {ECO:0000269|PubMed:15731757}.|R -> H (in LDS2). {ECO:0000269|PubMed:15731757, ECO:0000269|PubMed:16959974}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.R528C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCCAGAGGCCCGTCTCACAGC	0.597																																						ENST00000295754.5																			2	Substitution - Missense(2)	p.R528C(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53	GRCh37	CM050761	TGFBR2	M	rs104893810	c.(1582-1584)Cgt>Tgt		transforming growth factor, beta receptor II (70/80kDa)							73.0	68.0	69.0					3																	30732969		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30732969C>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1582C>T	3.37:g.30732969C>T	ENSP00000295754:p.Arg528Cys					TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553C	p.R528C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			7	1964	+			528		R -> C (in LDS1B).|R -> H (in LDS1B).	Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1582C>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	34	5.324023	0.95708	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.99270	-5.66;-5.66	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	H	0.98507	4.25	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97303	0.9932	9	0.87932	D	0	.	20.2857	0.98533	0.0:1.0:0.0:0.0	.	528;553	P37173;D2JYI1	TGFR2_HUMAN;.	C	528;553;358	ENSP00000295754:R528C;ENSP00000351905:R553C	ENSP00000295754:R528C	R	+	1	0	TGFBR2	30707973	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	5.968000	0.70413	2.803000	0.96430	0.650000	0.86243	CGT		0.597	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			30	46	0	0	0	1	0	30	46				
TRIO	7204	broad.mit.edu	37	5	14504698	14504698	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr5:14504698G>C	ENST00000344204.4	+	55	8632	c.8608G>C	c.(8608-8610)Gaa>Caa	p.E2870Q	TRIO_ENST00000537187.1_Missense_Mutation_p.E2694Q|TRIO_ENST00000344135.5_Missense_Mutation_p.E369Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2870	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCTGGTCTTAGAAATGTGCGT	0.562																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(8608-8610)Gaa>Caa		trio Rho guanine nucleotide exchange factor							120.0	121.0	121.0					5																	14504698		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14504698G>C	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.8608G>C	5.37:g.14504698G>C	ENSP00000339299:p.Glu2870Gln					TRIO_ENST00000344135.5_Missense_Mutation_p.E369Q|TRIO_ENST00000537187.1_Missense_Mutation_p.E2694Q	p.E2870Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			55	8632	+	Lung NSC(4;0.000742)		2870			Protein kinase.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.8608G>C	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144695	0.94603	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000344135	T;T;T	0.64618	-0.11;-0.11;-0.11	5.61	5.61	0.85477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82852	0.5127	M	0.87547	2.89	0.43195	D	0.995035	D	0.76494	0.999	D	0.80764	0.994	D	0.85397	0.1129	10	0.87932	D	0	.	19.627	0.95680	0.0:0.0:1.0:0.0	.	2870	O75962	TRIO_HUMAN	Q	2870;2694;369	ENSP00000339299:E2870Q;ENSP00000446348:E2694Q;ENSP00000339291:E369Q	ENSP00000339291:E369Q	E	+	1	0	TRIO	14557698	1.000000	0.71417	0.651000	0.29564	0.900000	0.52787	9.831000	0.99420	2.632000	0.89209	0.655000	0.94253	GAA		0.562	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		11	219	0	0	0	1	0	11	219				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		5	68	0	0	0	1	0	5	68				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																653390							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	47	0	0	0	1	0	4	47				
TNKS1BP1	85456	broad.mit.edu	37	11	57076681	57076681	+	Silent	SNP	C	C	T			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr11:57076681C>T	ENST00000532437.1	-	5	3815	c.3504G>A	c.(3502-3504)agG>agA	p.R1168R	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Silent_p.R1168R			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1168	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTTCCAAGTTCCTGAGACCCA	0.607																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3502-3504)agG>agA		tankyrase 1 binding protein 1, 182kDa							59.0	58.0	58.0					11																	57076681		2201	4296	6497	SO:0001819	synonymous_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076681C>T	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3504G>A	11.37:g.57076681C>T						TNKS1BP1_ENST00000358252.3_Silent_p.R1168R	p.R1168R			Q9C0C2	TB182_HUMAN			5	3815	-		all_epithelial(135;0.21)	1168			Acidic.|Gly-rich.		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.3504G>A	CCDS7951.1																																																																																				0.607	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		5	101	0	0	0	1	0	5	101				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			96610							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	26	0	0	0	1	0	4	26				
AFAP1L1	134265	broad.mit.edu	37	5	148687053	148687053	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr5:148687053G>A	ENST00000296721.4	+	7	722	c.624G>A	c.(622-624)tgG>tgA	p.W208*	AFAP1L1_ENST00000515000.1_Nonsense_Mutation_p.W208*|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	208						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACACCAGTGGCCCTCAGAGG	0.592																																						ENST00000296721.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(622-624)tgG>tgA		actin filament associated protein 1-like 1							73.0	68.0	70.0					5																	148687053		2203	4300	6503	SO:0001587	stop_gained	134265						protein binding	g.chr5:148687053G>A	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.624G>A	5.37:g.148687053G>A	ENSP00000296721:p.Trp208*					AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Nonsense_Mutation_p.W208*	p.W208*	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	722	+			208					Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Nonsense_Mutation	SNP	ENST00000296721.4	37	c.624G>A	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	35	5.568678	0.96540	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	.	.	.	4.83	4.83	0.62350	.	0.116368	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5062	18.094	0.89482	0.0:0.0:1.0:0.0	.	.	.	.	X	208	.	ENSP00000296721:W208X	W	+	3	0	AFAP1L1	148667246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.507000	0.84556	0.561000	0.74099	TGG		0.592	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		8	74	0	0	0	1	0	8	74				
NOD1	10392	broad.mit.edu	37	7	30486608	30486608	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr7:30486608C>T	ENST00000222823.4	-	8	2869	c.2344G>A	c.(2344-2346)Gaa>Aaa	p.E782K		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	782					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CCTTTGCATTCATCCAGGATT	0.453																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(2344-2346)Gaa>Aaa		nucleotide-binding oligomerization domain containing 1							212.0	186.0	195.0					7																	30486608		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30486608C>T	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2344G>A	7.37:g.30486608C>T	ENSP00000222823:p.Glu782Lys						p.E782K	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			8	2869	-			782					B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.2344G>A	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009254	0.75046	.	.	ENSG00000106100	ENST00000222823	T	0.51574	0.7	5.95	5.95	0.96441	.	0.046212	0.85682	D	0.000000	T	0.66674	0.2813	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.57757	-0.7756	10	0.22109	T	0.4	.	19.3813	0.94536	0.0:1.0:0.0:0.0	.	782	Q9Y239	NOD1_HUMAN	K	782	ENSP00000222823:E782K	ENSP00000222823:E782K	E	-	1	0	NOD1	30453133	1.000000	0.71417	0.951000	0.38953	0.637000	0.38172	5.438000	0.66550	2.824000	0.97209	0.655000	0.94253	GAA		0.453	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			7	82	0	0	0	1	0	7	82				
PRDM2	7799	broad.mit.edu	37	1	14108764	14108764	+	Missense_Mutation	SNP	C	C	G	rs190011559		TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr1:14108764C>G	ENST00000235372.7	+	8	5330	c.4474C>G	c.(4474-4476)Cat>Gat	p.H1492D	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.H1291D|PRDM2_ENST00000343137.4_Missense_Mutation_p.H1291D|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.H1492D	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAAAGTTTCTCATTCATCTAA	0.443																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(4474-4476)Cat>Gat		PR domain containing 2, with ZNF domain							121.0	141.0	134.0					1																	14108764		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14108764C>G	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4474C>G	1.37:g.14108764C>G	ENSP00000235372:p.His1492Asp					PRDM2_ENST00000311066.5_Missense_Mutation_p.H1492D|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.H1291D|PRDM2_ENST00000413440.1_Missense_Mutation_p.H1291D|PRDM2_ENST00000503842.1_Intron	p.H1492D	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	5330	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1492					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.4474C>G	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	9.161	1.018721	0.19355	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01527	4.92;4.8;4.81;4.81	6.08	5.15	0.70609	.	0.456554	0.24561	N	0.037480	T	0.02649	0.0080	L	0.57536	1.79	0.09310	N	1	B;B;B	0.30973	0.201;0.201;0.302	B;B;B	0.32864	0.046;0.073;0.154	T	0.40346	-0.9568	10	0.35671	T	0.21	.	7.4354	0.27152	0.1624:0.7508:0.0:0.0868	.	1350;1492;1492	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	D	1492;1492;1492;1291;1291	ENSP00000235372:H1492D;ENSP00000312352:H1492D;ENSP00000411103:H1291D;ENSP00000341621:H1291D	ENSP00000235372:H1492D	H	+	1	0	PRDM2	13981351	0.234000	0.23783	0.006000	0.13384	0.951000	0.60555	1.555000	0.36277	1.520000	0.48965	0.591000	0.81541	CAT		0.443	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		11	339	0	0	0	1	0	11	339				
SDK1	221935	broad.mit.edu	37	7	4304762	4304762	+	Missense_Mutation	SNP	G	G	A	rs370636786		TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr7:4304762G>A	ENST00000404826.2	+	45	6527	c.6388G>A	c.(6388-6390)Gac>Aac	p.D2130N	SDK1_ENST00000389531.3_Missense_Mutation_p.D2110N|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2130					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCAGGCCACGGACTCTGACTA	0.687																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(6388-6390)Gac>Aac		sidekick cell adhesion molecule 1		G	ASN/ASP	0,4404		0,0,2202	56.0	58.0	57.0		6388	4.6	0.7	7		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	SDK1	NM_152744.3	23	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2130/2214	4304762	1,13003	2202	4300	6502	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4304762G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.6388G>A	7.37:g.4304762G>A	ENSP00000385899:p.Asp2130Asn					SDK1_ENST00000389531.3_Missense_Mutation_p.D2110N|SDK1_ENST00000466611.1_3'UTR	p.D2130N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	45	6527	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	2130					Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.6388G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527746	0.44969	0.0	1.16E-4	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.65549	-0.15;-0.16	4.57	4.57	0.56435	.	0.000000	0.64402	D	0.000001	T	0.79299	0.4422	M	0.80183	2.485	0.58432	D	0.999997	D;P;D;D	0.76494	0.999;0.925;0.983;0.989	D;P;P;P	0.71870	0.975;0.691;0.873;0.783	T	0.83198	-0.0080	10	0.87932	D	0	.	15.5963	0.76583	0.0:0.0:1.0:0.0	.	2110;190;617;2130	F8W6X9;Q7Z5N4-2;F2Z3E9;Q7Z5N4	.;.;.;SDK1_HUMAN	N	2130;378;2110	ENSP00000385899:D2130N;ENSP00000374182:D2110N	ENSP00000374182:D2110N	D	+	1	0	SDK1	4271288	1.000000	0.71417	0.749000	0.31150	0.041000	0.13682	9.122000	0.94380	2.088000	0.63022	0.555000	0.69702	GAC		0.687	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		3	22	0	0	0	1	0	3	22				
ASXL1	171023	broad.mit.edu	37	20	31023282	31023282	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr20:31023282G>C	ENST00000375687.4	+	13	3191	c.2767G>C	c.(2767-2769)Gag>Cag	p.E923Q	ASXL1_ENST00000306058.5_Missense_Mutation_p.E918Q	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	923					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ACCATCTGTTGAGCCCCAGGT	0.512			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(2767-2769)Gag>Cag		additional sex combs like 1 (Drosophila)							67.0	62.0	64.0					20																	31023282		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31023282G>C	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2767G>C	20.37:g.31023282G>C	ENSP00000364839:p.Glu923Gln					ASXL1_ENST00000306058.5_Missense_Mutation_p.E918Q	p.E923Q	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	3191	+			923					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.2767G>C	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383469	0.42207	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.17691	2.27;2.26	4.87	2.9	0.33743	.	0.394451	0.26045	N	0.026678	T	0.11965	0.0291	L	0.32530	0.975	0.09310	N	1	B;B	0.23058	0.079;0.046	B;B	0.18263	0.021;0.008	T	0.20940	-1.0260	10	0.33141	T	0.24	-6.5186	9.1217	0.36791	0.078:0.1464:0.7756:0.0	.	918;923	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	Q	923;923;923;844;918	ENSP00000364839:E923Q;ENSP00000305119:E918Q	ENSP00000305119:E918Q	E	+	1	0	ASXL1	30486943	0.987000	0.35691	0.037000	0.18230	0.276000	0.26787	2.184000	0.42575	0.750000	0.32877	0.650000	0.86243	GAG		0.512	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		4	68	0	0	0	1	0	4	68				
PSD4	23550	broad.mit.edu	37	2	113955408	113955408	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr2:113955408A>C	ENST00000245796.6	+	14	2737	c.2542A>C	c.(2542-2544)Acc>Ccc	p.T848P	PSD4_ENST00000441564.3_Missense_Mutation_p.T819P	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	848	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCGCTGGCCACCCCCGCCAC	0.657																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2542-2544)Acc>Ccc		pleckstrin and Sec7 domain containing 4							31.0	33.0	32.0					2																	113955408		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113955408A>C	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2542A>C	2.37:g.113955408A>C	ENSP00000245796:p.Thr848Pro					PSD4_ENST00000441564.2_Missense_Mutation_p.T819P	p.T848P	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			14	2737	+			848			PH.		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.2542A>C	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.019956	0.75275	.	.	ENSG00000125637	ENST00000245796;ENST00000441564;ENST00000409378	T;T;T	0.79845	-1.31;-1.31;1.41	4.78	3.65	0.41850	Pleckstrin homology-type (1);Pleckstrin homology domain, spectrin-type (1);Pleckstrin homology domain (3);	0.285190	0.33591	N	0.004753	T	0.78610	0.4310	L	0.41492	1.28	0.28973	N	0.88915	P;P;P;P	0.52316	0.475;0.952;0.941;0.952	P;P;P;P	0.56865	0.673;0.808;0.708;0.808	T	0.72730	-0.4205	10	0.72032	D	0.01	.	3.7262	0.08476	0.7058:0.0:0.2942:0.0	.	78;505;819;848	B4DFU9;Q59HG0;Q8NDX1-2;Q8NDX1	.;.;.;PSD4_HUMAN	P	848;819;61	ENSP00000245796:T848P;ENSP00000413997:T819P;ENSP00000386606:T61P	ENSP00000245796:T848P	T	+	1	0	PSD4	113671879	0.005000	0.15991	0.998000	0.56505	0.918000	0.54935	1.688000	0.37690	1.792000	0.52537	0.379000	0.24179	ACC		0.657	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		7	19	0	0	0	1	0	7	19				
GOLGA2P5	55592	broad.mit.edu	37	12	100559710	100559710	+	RNA	SNP	T	T	G			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr12:100559710T>G	ENST00000397112.4	-	0	599					NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						CAGAGGCTGGTGCCCGCCTTC	0.602																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4																																														55592							g.chr12:100559710T>G																													12.37:g.100559710T>G								NR_036632.1						0	599	-								Q9NSV2	RNA	SNP	ENST00000397112.4	37																																																																																						0.602	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			6	26	0	0	0	1	0	6	26				
CD1E	913	broad.mit.edu	37	1	158324402	158324402	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr1:158324402G>T	ENST00000368167.3	+	2	533	c.294G>T	c.(292-294)caG>caT	p.Q98H	CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.Q98H|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.Q96H|CD1E_ENST00000368155.3_Missense_Mutation_p.Q98H|CD1E_ENST00000368161.3_Missense_Mutation_p.Q98H|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.Q98H|CD1E_ENST00000368165.3_Missense_Mutation_p.Q98H|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.Q98H|CD1E_ENST00000368157.1_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	98					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CACTGTTCCAGTTATACTTCC	0.458																																						ENST00000368160.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(292-294)caG>caT		CD1e molecule							67.0	69.0	68.0					1																	158324402		2005	4210	6215	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158324402G>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.294G>T	1.37:g.158324402G>T	ENSP00000357149:p.Gln98His					CD1E_ENST00000368161.3_Missense_Mutation_p.Q98H|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.Q98H|CD1E_ENST00000368155.3_Missense_Mutation_p.Q98H|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.Q98H|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.Q98H|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.Q98H|CD1E_ENST00000434258.1_Missense_Mutation_p.Q96H	p.Q98H	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN			2	294	+	all_hematologic(112;0.0378)		98					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.294G>T	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	G	7.664	0.685624	0.14973	.	.	ENSG00000158488	ENST00000434258;ENST00000368167;ENST00000368165;ENST00000368163;ENST00000368160;ENST00000368161;ENST00000368156;ENST00000368155	T;T;T;T;T;T;T;T	0.06933	3.24;3.24;3.41;3.24;3.24;3.24;3.61;3.56	3.65	1.71	0.24356	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.098900	0.07110	N	0.842069	T	0.02848	0.0085	N	0.21142	0.635	0.09310	N	1	B;B;D;B;B;B;P;B	0.59767	0.004;0.405;0.986;0.0;0.002;0.141;0.56;0.007	B;B;P;B;B;B;B;B	0.50162	0.002;0.095;0.633;0.001;0.001;0.036;0.095;0.009	T	0.39921	-0.9590	10	0.29301	T	0.29	-0.5203	5.1502	0.15005	0.1177:0.2115:0.6708:0.0	.	96;98;98;98;98;98;98;98	E7ET31;P15812-5;P15812-7;P15812-2;P15812;P15812-3;P15812-6;P15812-4	.;.;.;.;CD1E_HUMAN;.;.;.	H	96;98;98;98;98;98;98;98	ENSP00000401957:Q96H;ENSP00000357149:Q98H;ENSP00000357147:Q98H;ENSP00000357145:Q98H;ENSP00000357142:Q98H;ENSP00000357143:Q98H;ENSP00000357138:Q98H;ENSP00000357137:Q98H	ENSP00000357137:Q98H	Q	+	3	2	CD1E	156591026	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.304000	0.19228	0.499000	0.27970	0.563000	0.77884	CAG		0.458	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		4	63	1	0	1	1	1	4	63				
PIK3R1	5295	broad.mit.edu	37	5	67591125	67591129	+	Frame_Shift_Del	DEL	TGAGA	TGAGA	-			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr5:67591125_67591129delTGAGA	ENST00000521381.1	+	13	2334_2338	c.1718_1722delTGAGA	c.(1717-1722)ctgagafs	p.LR573fs	PIK3R1_ENST00000521657.1_Frame_Shift_Del_p.LR573fs|PIK3R1_ENST00000320694.8_Frame_Shift_Del_p.LR273fs|PIK3R1_ENST00000274335.5_Frame_Shift_Del_p.LR573fs|PIK3R1_ENST00000336483.5_Frame_Shift_Del_p.LR303fs|PIK3R1_ENST00000523872.1_Frame_Shift_Del_p.LR210fs|PIK3R1_ENST00000396611.1_Frame_Shift_Del_p.LR573fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	573					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.L573P(2)|p.L303P(2)|p.R574T(2)|p.R574_T576del(2)|p.L273P(2)|p.L570_D578del(1)|p.R574fs*27(1)|p.0?(1)|p.?(1)|p.R574I(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CTTATCCAGCTGAGAAAGACGAGAG	0.38			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		15	Substitution - Missense(9)|Deletion - In frame(3)|Whole gene deletion(1)|Deletion - Frameshift(1)|Unknown(1)	p.L573P(2)|p.L303P(2)|p.R574T(2)|p.R574_T576del(2)|p.L273P(2)|p.L570_D578del(1)|p.R574fs*27(1)|p.0?(1)|p.?(1)|p.R574I(1)	endometrium(8)|large_intestine(2)|central_nervous_system(1)|urinary_tract(1)|lung(1)|breast(1)|ovary(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1717-1722)cfs		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001589	frameshift_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591125_67591129delTGAGA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1718_1722delTGAGA	5.37:g.67591125_67591129delTGAGA	ENSP00000428056:p.Leu573fs	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000274335.5_Frame_Shift_Del_p.LR573fs|PIK3R1_ENST00000396611.1_Frame_Shift_Del_p.LR573fs|PIK3R1_ENST00000523872.1_Frame_Shift_Del_p.LR210fs|PIK3R1_ENST00000320694.8_Frame_Shift_Del_p.LR273fs|PIK3R1_ENST00000521657.1_Frame_Shift_Del_p.LR573fs|PIK3R1_ENST00000336483.5_Frame_Shift_Del_p.LR303fs	p.LR573fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2334_2338	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	573					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Del	DEL	ENST00000521381.1	37	c.1718_1722delTGAGA	CCDS3993.1																																																																																				0.380	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		16	120						16	120	---	---	---	---
BTNL8	79908	broad.mit.edu	37	5	180335804	180335804	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr5:180335804G>T	ENST00000340184.4	+	2	474	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	BTNL8_ENST00000231229.4_Missense_Mutation_p.D90Y|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000533815.2_5'Flank|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000505126.1_5'Flank|Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000508408.1_Missense_Mutation_p.D90Y	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	90	Ig-like V-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTGGTGAAGGATTCTATTGC	0.527																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(268-270)Gat>Tat		butyrophilin-like 8							205.0	204.0	204.0					5																	180335804		2203	4300	6503	SO:0001583	missense	79908					integral to membrane		g.chr5:180335804G>T	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.268G>T	5.37:g.180335804G>T	ENSP00000342197:p.Asp90Tyr					BTNL8_ENST00000340184.4_Missense_Mutation_p.D90Y|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.D90Y	p.D90Y	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	502	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	90			Ig-like V-type 1.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.268G>T	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858232	0.32791	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000508408	T;T;T	0.68331	-0.32;-0.32;-0.32	2.64	1.74	0.24563	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82296	0.5006	M	0.90870	3.155	0.25414	N	0.988334	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.68903	-0.5286	9	0.56958	D	0.05	.	7.0301	0.24962	0.1491:0.0:0.8509:0.0	.	90;90;90	F2Z2B2;A6NEX6;Q6UX41	.;.;BTNL8_HUMAN	Y	90	ENSP00000231229:D90Y;ENSP00000342197:D90Y;ENSP00000424585:D90Y	ENSP00000231229:D90Y	D	+	1	0	BTNL8	180268410	0.948000	0.32251	0.021000	0.16686	0.038000	0.13279	1.648000	0.37271	0.439000	0.26476	0.436000	0.28706	GAT		0.527	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		9	237	1	0	0.000274275	1	0.000300397	9	237				
TRIM7	81786	broad.mit.edu	37	5	180631987	180631987	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr5:180631987delC	ENST00000274773.7	-	1	185	c.124delG	c.(124-126)gtcfs	p.V42fs	TRIM7_ENST00000334421.5_Frame_Shift_Del_p.V42fs|CTC-338M12.6_ENST00000419707.2_RNA|CTC-338M12.6_ENST00000511517.1_RNA|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.1_ENST00000503314.1_RNA|TRIM7_ENST00000422067.2_5'Flank|TRIM7_ENST00000361809.3_5'Flank|CTC-338M12.6_ENST00000502812.2_RNA|CTC-338M12.6_ENST00000514784.1_RNA|TRIM7_ENST00000393315.1_5'Flank	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	42						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CCGCACTCGACGGACACCGGC	0.746																																					Esophageal Squamous(128;2258 2308 35507 48647)	ENST00000274773.7																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17						c.(124-126)tcfs		tripartite motif containing 7							3.0	3.0	3.0					5																	180631987		1603	3273	4876	SO:0001589	frameshift_variant	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180631987delC	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.124delG	5.37:g.180631987delC	ENSP00000274773:p.Val42fs					TRIM7_ENST00000334421.5_Frame_Shift_Del_p.V42fs	p.V42fs	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	1	185	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	42					A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Frame_Shift_Del	DEL	ENST00000274773.7	37	c.124delG	CCDS4462.1																																																																																				0.746	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		2	4						2	4	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr12:122812690_122812691insT	ENST00000540338.1	-	16	3093_3094	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.S972fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.S593fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.S896fs|CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.S1007fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3019-3021)ccafs		CAP-GLY domain containing linker protein 1																																				SO:0001589	frameshift_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812690_122812691insT		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3053dupA	12.37:g.122812692_122812692dupT	ENSP00000439093:p.Ser1018fs					CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs	p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3173_3174	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1018					A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	c.3019_3020insA	CCDS58285.1																																																																																				0.505	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		8	252						8	252	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547135	132547136	+	In_Frame_Ins	INS	-	-	CAG			TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr12:132547135_132547136insCAG	ENST00000333577.4	+	48	8440_8441	c.8331_8332insCAG	c.(8332-8334)caa>CAGcaa	p.2778_2778Q>QQ	EP400_ENST00000389561.2_In_Frame_Ins_p.2742_2742Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2705_2705Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2661_2661Q>QQ|EP400_ENST00000389562.2_In_Frame_Ins_p.2741_2741Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacagcagca	0.589																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8329-8334)caaaca>caCAGaaca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547135_132547136insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547133_132547135dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000332482.4_In_Frame_Ins_p.2704_2704Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2740_2740Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2660_2660Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2741_2741Q>HR	p.2777_2777Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8440_8441	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2777			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8331_8332insCAG																																																																																					0.589	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		14	61						14	61	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56056605	56056607	+	In_Frame_Del	DEL	TGC	TGC	-	rs61731354|rs73995411|rs57786397|rs369163670	byFrequency	TCGA-DQ-7596-01A-11D-2229-08	TCGA-DQ-7596-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	012bfacf-0f67-4284-aab9-9898b621dc48	27a98375-2c5a-4e54-91b4-a7cd6c74f9e1	g.chr17:56056605_56056607delTGC	ENST00000581208.1	-	5	1084_1086	c.1044_1046delGCA	c.(1042-1047)cagcaa>caa	p.348_349QQ>Q	VEZF1_ENST00000584396.1_In_Frame_Del_p.339_340QQ>Q	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	348	Poly-Gln.				angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ttgttgttgttgctgctgctgct	0.463																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(1015-1020)caa>ca		vascular endothelial zinc finger 1																																				SO:0001651	inframe_deletion	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56056605_56056607delTGC	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1044_1046delGCA	17.37:g.56056614_56056616delTGC	ENSP00000462337:p.Gln354del					VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del	p.QQ343del			Q14119	VEZF1_HUMAN			5	1105_1107	-			352			Poly-Gln.			In_Frame_Del	DEL	ENST00000581208.1	37	c.1017_1019delGCA	CCDS32687.1																																																																																				0.463	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			14	311						14	311	---	---	---	---
