#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
FCGBP	8857	broad.mit.edu	37	19	40366101	40366101	+	Silent	SNP	T	T	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr19:40366101T>C	ENST00000221347.6	-	30	14140	c.14133A>G	c.(14131-14133)gcA>gcG	p.A4711A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4711						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGTAGCCACTGCAGGACAGA	0.672																																						uc002omp.4																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(14131-14133)gcA>gcG		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							34.0	42.0	39.0					19																	40366101		2201	4297	6498	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40366101T>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14133A>G	19.37:g.40366101T>C							p.A4711A	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		29	14141	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4711					O95784	Silent	SNP	ENST00000221347.6	37	c.14133A>G	CCDS12546.1																																																																																				0.672	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		22	33	0	0	0	1	0	22	33				
TG	7038	broad.mit.edu	37	8	133894135	133894135	+	Silent	SNP	T	T	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr8:133894135T>C	ENST00000220616.4	+	6	706	c.666T>C	c.(664-666)agT>agC	p.S222S	TG_ENST00000377869.1_Silent_p.S222S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	222	Thyroglobulin type-1 3. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGACCTTCAGTTCCTTCCAGA	0.483																																						uc003ytw.3																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(664-666)agT>agC		Homo sapiens thyroglobulin (TG), mRNA.							133.0	115.0	121.0					8																	133894135		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133894135T>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.666T>C	8.37:g.133894135T>C							p.S222S	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	5	707	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	222			Thyroglobulin type-1 3.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.666T>C	CCDS34944.1																																																																																				0.483	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		44	87	0	0	0	1	0	44	87				
FANCF	2188	broad.mit.edu	37	11	22646539	22646539	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr11:22646539A>C	ENST00000327470.3	-	1	848	c.818T>G	c.(817-819)gTc>gGc	p.V273G	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	273					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						ACCCAGATAGACAGGAGACAG	0.552			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mql.1			yes	Rec		Fanconi anaemia F	11	11p15	2188	"""N, F"""	"""Fanconi anemia, complementation group F"""			L		"""AML, leukemia"""			0				kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						c.(817-819)gTc>gGc	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group F (FANCF), mRNA.							54.0	61.0	58.0					11																	22646539		2203	4300	6503	SO:0001583	missense	2188	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr11:22646539A>C		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.818T>G	11.37:g.22646539A>C	ENSP00000330875:p.Val273Gly		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	757		p.V273G	NM_022725	NP_073562	Q9NPI8	FANCF_HUMAN			0	849	-			273					Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	c.818T>G	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887916	0.33348	.	.	ENSG00000183161	ENST00000327470	T	0.35048	1.33	5.41	-3.69	0.04450	.	1.110220	0.07015	N	0.825849	T	0.27278	0.0669	L	0.40543	1.245	0.09310	N	0.999996	B	0.15141	0.012	B	0.14578	0.011	T	0.33675	-0.9859	10	0.33141	T	0.24	-4.4098	9.7752	0.40614	0.1675:0.2383:0.5942:0.0	.	273	Q9NPI8	FANCF_HUMAN	G	273	ENSP00000330875:V273G	ENSP00000330875:V273G	V	-	2	0	FANCF	22603115	0.170000	0.23016	0.010000	0.14722	0.194000	0.23727	0.044000	0.13992	-0.503000	0.06586	0.459000	0.35465	GTC		0.552	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		5	133	0	0	0	1	0	5	133				
ZNF565	147929	broad.mit.edu	37	19	36674128	36674128	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr19:36674128C>G	ENST00000355114.5	-	5	1586	c.860G>C	c.(859-861)gGt>gCt	p.G287A	ZNF565_ENST00000392173.2_Missense_Mutation_p.G247A|ZNF565_ENST00000304116.5_Missense_Mutation_p.G247A			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AGGTTTGACACCAGTATGAAG	0.438																																						uc002odn.3																			0				large_intestine(4)|lung(4)|ovary(1)|skin(2)	11						c.(739-741)gGt>gCt		Homo sapiens zinc finger protein 565 (ZNF565), transcript variant 2, mRNA.							82.0	76.0	78.0					19																	36674128		2203	4300	6503	SO:0001583	missense	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36674128C>G	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.860G>C	19.37:g.36674128C>G	ENSP00000347234:p.Gly287Ala					ZNF565_uc010ees.3_Missense_Mutation_p.G182A|ZNF565_uc002odo.3_Missense_Mutation_p.G247A	p.G247A	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		4	848	-	Esophageal squamous(110;0.162)		247					B3KQ35|Q6NUS2	Missense_Mutation	SNP	ENST00000355114.5	37	c.740G>C		.	.	.	.	.	.	.	.	.	.	c	15.78	2.935423	0.52866	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.26373	1.74;1.74;1.74	4.36	4.36	0.52297	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40818	N	0.001003	T	0.41743	0.1172	M	0.71581	2.175	0.40656	D	0.982089	D	0.57899	0.981	P	0.53102	0.718	T	0.48490	-0.9031	10	0.87932	D	0	.	14.8205	0.70068	0.0:1.0:0.0:0.0	.	247	Q8N9K5	ZN565_HUMAN	A	247;247;287	ENSP00000376013:G247A;ENSP00000306869:G247A;ENSP00000347234:G287A	ENSP00000306869:G247A	G	-	2	0	ZNF565	41365968	0.711000	0.27906	1.000000	0.80357	0.064000	0.16182	3.246000	0.51414	2.437000	0.82529	0.585000	0.79938	GGT		0.438	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		10	111	0	0	0	1	0	10	111				
SHROOM3	57619	broad.mit.edu	37	4	77661752	77661752	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:77661752A>T	ENST00000296043.6	+	5	3379	c.2426A>T	c.(2425-2427)tAt>tTt	p.Y809F		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	809					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGCCATAACTATAGGCCCCAC	0.552																																						uc011cbx.2																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2425-2427)tAt>tTt		Homo sapiens shroom family member 3 (SHROOM3), mRNA.							59.0	67.0	64.0					4																	77661752		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661752A>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2426A>T	4.37:g.77661752A>T	ENSP00000296043:p.Tyr809Phe					SHROOM3_uc011cbz.1_Missense_Mutation_p.Y633F|SHROOM3_uc003hkf.1_Missense_Mutation_p.Y684F|SHROOM3_uc003hkg.3_Missense_Mutation_p.Y587F	p.Y809F	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		4	3379	+			809					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2426A>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	a	14.31	2.497908	0.44455	.	.	ENSG00000138771	ENST00000296043	T	0.35973	1.28	5.52	1.48	0.22813	.	4.376620	0.00520	N	0.000188	T	0.38639	0.1048	M	0.62723	1.935	0.09310	N	1	B;B;B	0.18461	0.028;0.028;0.028	B;B;B	0.17433	0.018;0.018;0.018	T	0.16630	-1.0396	10	0.41790	T	0.15	-2.2554	6.6506	0.22959	0.588:0.1416:0.0:0.2705	.	633;809;587	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	F	809	ENSP00000296043:Y809F	ENSP00000296043:Y809F	Y	+	2	0	SHROOM3	77880776	.	.	0.005000	0.12908	0.002000	0.02628	.	.	0.026000	0.15269	0.375000	0.23000	TAT		0.552	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		29	80	0	0	0	1	0	29	80				
GEMIN5	25929	broad.mit.edu	37	5	154280951	154280951	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:154280951T>A	ENST00000285873.7	-	21	3037	c.2962A>T	c.(2962-2964)Atc>Ttc	p.I988F		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	988					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTTTGTGGATGGAAAGTAGG	0.453																																						uc003lvx.3																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(2962-2964)Atc>Ttc		Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.							119.0	117.0	118.0					5																	154280951		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154280951T>A	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2962A>T	5.37:g.154280951T>A	ENSP00000285873:p.Ile988Phe					GEMIN5_uc011ddk.1_Missense_Mutation_p.I987F	p.I988F	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		20	3045	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	988					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.2962A>T	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801507	0.90538	.	.	ENSG00000082516	ENST00000285873	T	0.73681	-0.77	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.81403	0.4815	M	0.75264	2.295	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.54100	0.742;0.742	D	0.83833	0.0253	10	0.72032	D	0.01	-17.8524	12.8468	0.57833	0.0:0.0:0.1359:0.8641	.	987;988	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	F	988	ENSP00000285873:I988F	ENSP00000285873:I988F	I	-	1	0	GEMIN5	154261144	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.725000	0.54970	2.258000	0.74832	0.533000	0.62120	ATC		0.453	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			85	103	0	0	0	1	0	85	103				
FAM169B	283777	broad.mit.edu	37	15	98982901	98982901	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr15:98982901C>T	ENST00000558256.1	-	7	787	c.538G>A	c.(538-540)Gca>Aca	p.A180T	FAM169B_ENST00000332908.4_Missense_Mutation_p.A180T	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	180										large_intestine(3)|lung(3)|urinary_tract(1)	7						GGCTGCCCTGCCAGCCCGGCA	0.587																																						uc002buk.1																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(538-540)Gca>Aca		Homo sapiens family with sequence similarity 169, member B (FAM169B), mRNA.							76.0	78.0	77.0					15																	98982901		1996	4164	6160	SO:0001583	missense	283777							g.chr15:98982901C>T		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.538G>A	15.37:g.98982901C>T	ENSP00000453554:p.Ala180Thr						p.A180T	NM_182562	NP_872368	Q8N8A8	F169B_HUMAN			6	788	-			180					B5MDL8	Missense_Mutation	SNP	ENST00000558256.1	37	c.538G>A	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	C	9.499	1.102826	0.20632	.	.	ENSG00000185087	ENST00000332908	T	0.52983	0.64	2.93	0.956	0.19608	.	2.328530	0.01834	N	0.034908	T	0.28599	0.0708	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.16289	0.015	T	0.16512	-1.0400	10	0.34782	T	0.22	.	5.1223	0.14867	0.2217:0.5173:0.261:0.0	.	180	Q8N8A8	F169B_HUMAN	T	180	ENSP00000332615:A180T	ENSP00000332615:A180T	A	-	1	0	FAM169B	96800424	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.473000	0.00988	0.286000	0.22352	0.650000	0.86243	GCA		0.587	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562		12	50	0	0	0	1	0	12	50				
MUC7	4589	broad.mit.edu	37	4	71339788	71339788	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:71339788T>C	ENST00000304887.5	+	2	240	c.50T>C	c.(49-51)tTc>tCc	p.F17S	MUC7_ENST00000514512.1_Intron|MUC7_ENST00000413702.1_Missense_Mutation_p.F17S|MUC7_ENST00000456088.1_Missense_Mutation_p.F17S	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	17					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGTGCTTGCTTCTCGGTAAGT	0.388																																						uc011cat.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(49-51)tTc>tCc		Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.							130.0	126.0	127.0					4																	71339788		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71339788T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.50T>C	4.37:g.71339788T>C	ENSP00000302021:p.Phe17Ser					MUC7_uc011cau.2_Missense_Mutation_p.F17S|MUC7_uc003hfj.3_Missense_Mutation_p.F17S	p.F17S	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		2	338	+			17					Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.50T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.198545	0.38806	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.55413	0.54;0.52;0.54;0.54	3.93	3.93	0.45458	.	.	.	.	.	T	0.55194	0.1905	N	0.24115	0.695	0.24752	N	0.992974	D	0.76494	0.999	D	0.72075	0.976	T	0.40478	-0.9561	8	.	.	.	-6.7394	9.4534	0.38741	0.0:0.0:0.0:1.0	.	17	Q8TAX7	MUC7_HUMAN	S	17	ENSP00000407422:F17S;ENSP00000427594:F17S;ENSP00000400585:F17S;ENSP00000302021:F17S	.	F	+	2	0	MUC7	71374377	0.966000	0.33281	0.997000	0.53966	0.504000	0.33889	2.887000	0.48586	2.005000	0.58758	0.460000	0.39030	TTC		0.388	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		49	97	0	0	0	1	0	49	97				
N4BP2	55728	broad.mit.edu	37	4	40113746	40113746	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:40113746A>G	ENST00000261435.6	+	6	1957	c.1541A>G	c.(1540-1542)gAt>gGt	p.D514G		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	514					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATAATTATAGATAATACAAAC	0.274																																						uc003guy.4																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(1540-1542)gAt>gGt		Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.							94.0	112.0	106.0					4																	40113746		2203	4297	6500	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40113746A>G	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1541A>G	4.37:g.40113746A>G	ENSP00000261435:p.Asp514Gly					N4BP2_uc010ifq.3_Missense_Mutation_p.D434G|N4BP2_uc010ifr.3_Missense_Mutation_p.D434G	p.D514G	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			5	1879	+			514					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.1541A>G	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691125	0.88735	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.60797	0.16	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.77438	0.4130	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.80103	-0.1522	10	0.87932	D	0	-27.3898	16.635	0.85050	1.0:0.0:0.0:0.0	.	514;514	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	G	514;434	ENSP00000261435:D514G	ENSP00000261435:D514G	D	+	2	0	N4BP2	39790141	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.433000	0.90291	2.330000	0.79161	0.477000	0.44152	GAT		0.274	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		124	133	0	0	0	1	0	124	133				
SHROOM3	57619	broad.mit.edu	37	4	77660335	77660335	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:77660335G>C	ENST00000296043.6	+	5	1962	c.1009G>C	c.(1009-1011)Gcc>Ccc	p.A337P		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	337					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGAGGCCCGAGCCTCAGCAAA	0.552																																						uc011cbx.2																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(1009-1011)Gcc>Ccc		Homo sapiens shroom family member 3 (SHROOM3), mRNA.							56.0	61.0	59.0					4																	77660335		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77660335G>C	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1009G>C	4.37:g.77660335G>C	ENSP00000296043:p.Ala337Pro					SHROOM3_uc011cbz.1_Missense_Mutation_p.A161P|SHROOM3_uc003hkf.1_Missense_Mutation_p.A212P|SHROOM3_uc003hkg.3_Missense_Mutation_p.A115P	p.A337P	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		4	1962	+			337					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.1009G>C	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013781	0.35511	.	.	ENSG00000138771	ENST00000296043	T	0.47869	0.83	5.97	3.26	0.37387	.	0.766256	0.12196	N	0.490730	T	0.46444	0.1393	M	0.62723	1.935	0.19300	N	0.999978	P;B;B	0.49961	0.93;0.062;0.062	P;B;B	0.44860	0.462;0.023;0.023	T	0.24119	-1.0169	10	0.32370	T	0.25	-2.3986	8.1734	0.31268	0.1341:0.1308:0.7351:0.0	.	161;337;115	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	P	337	ENSP00000296043:A337P	ENSP00000296043:A337P	A	+	1	0	SHROOM3	77879359	0.001000	0.12720	0.018000	0.16275	0.627000	0.37826	1.187000	0.32090	0.384000	0.24942	0.655000	0.94253	GCC		0.552	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		48	95	0	0	0	1	0	48	95				
SLC27A4	10999	broad.mit.edu	37	9	131112771	131112771	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr9:131112771G>A	ENST00000300456.4	+	6	911	c.794G>A	c.(793-795)cGc>cAc	p.R265H	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	265					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						AGGTATTACCGCATGGCTGCC	0.627																																					Pancreas(107;1554 2241 10946 12953)	uc004but.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(793-795)cGc>cAc		Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.							69.0	56.0	60.0					9																	131112771		2203	4300	6503	SO:0001583	missense	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131112771G>A	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.794G>A	9.37:g.131112771G>A	ENSP00000300456:p.Arg265His					SLC27A4_uc004buu.3_Intron	p.R265H	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN			5	1079	+			265					A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	37	c.794G>A	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863525	0.91511	.	.	ENSG00000167114	ENST00000300456	T	0.40756	1.02	5.08	5.08	0.68730	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.56962	-0.7892	10	0.15952	T	0.53	-25.6073	17.6262	0.88095	0.0:0.0:1.0:0.0	.	265	Q6P1M0	S27A4_HUMAN	H	265	ENSP00000300456:R265H	ENSP00000300456:R265H	R	+	2	0	SLC27A4	130152592	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.263000	0.95617	2.639000	0.89480	0.563000	0.77884	CGC		0.627	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			4	59	0	0	0	1	0	4	59				
PTEN	5728	broad.mit.edu	37	10	89692932	89692932	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr10:89692932T>A	ENST00000371953.3	+	5	1773	c.416T>A	c.(415-417)tTa>tAa	p.L139*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	139	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.L139*(5)|p.L139fs*40(2)|p.Y27fs*1(2)|p.L139fs*7(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTGCATATTTATTACATCGG	0.383		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		60	Whole gene deletion(37)|Deletion - Frameshift(12)|Substitution - Nonsense(5)|Unknown(5)|Deletion - In frame(1)	p.0?(37)|p.L139*(12)|p.?(5)|p.R55fs*1(5)|p.L139fs*40(4)|p.L139fs*7(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.Y138C(2)|p.Y138fs*9(1)|p.L139V(1)|p.I135fs*6(1)|p.L139F(1)|p.Y138*(1)|p.Y138D(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(12)|skin(9)|endometrium(5)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|cervix(1)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CD075527|CM033667|CM983502	PTEN	D|M		c.(415-417)tTa>tAa		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							106.0	102.0	103.0					10																	89692932		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692932T>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.416T>A	10.37:g.89692932T>A	ENSP00000361021:p.Leu139*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.L139*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1448	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	139			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.416T>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	48	14.413217	0.99794	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.9534	15.1019	0.72284	0.0:0.0:0.0:1.0	.	.	.	.	X	139	.	.	L	+	2	0	PTEN	89682912	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.661000	0.83786	1.953000	0.56701	0.533000	0.62120	TTA		0.383	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		20	66	0	0	0	1	0	20	66				
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020702	33020702	+	RNA	SNP	T	T	G			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr16:33020702T>G	ENST00000565407.2	+	0	110				RP11-19N8.2_ENST00000567619.1_RNA					immunoglobulin heavy variable 3/OR16-8 (non-functional)																		GGGGGGTCCCTGAGACTGTCC	0.582																																						uc021thd.1																			0													Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0004h.							110.0	97.0	101.0					16																	33020702		1862	4095	5957			0							g.chr16:33020702T>G	Z29605		16p11.2	2013-05-22	2008-09-11		ENSG00000271130	ENSG00000271130		"""Immunoglobulins / IGH orphons"""	5643	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-8"""				Standard			Approved	IGHV3/OR16-8			OTTHUMG00000176449		16.37:g.33020702T>G														0		+									RNA	SNP	ENST00000565407.2	37	c.50T>G																																																																																					0.582	IGHV3OR16-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432095.2			59	137	0	0	0	1	0	59	137				
CLK1	1195	broad.mit.edu	37	2	201719735	201719735	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr2:201719735C>A	ENST00000321356.4	-	10	1267	c.1132G>T	c.(1132-1134)Gta>Tta	p.V378L	CLK1_ENST00000409769.2_Missense_Mutation_p.V201L|CLK1_ENST00000434813.2_Missense_Mutation_p.V420L	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	378	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ACTGGAAATACGGTAAACCCA	0.388																																						uc010zhi.1																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1258-1260)Gta>Tta		Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 2, mRNA.							96.0	94.0	95.0					2																	201719735		2203	4300	6503	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201719735C>A	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.1132G>T	2.37:g.201719735C>A	ENSP00000326830:p.Val378Leu					CLK1_uc002uwe.2_Missense_Mutation_p.V378L|CLK1_uc002uwf.2_Missense_Mutation_p.V152L|CLK1_uc002uwg.2_Missense_Mutation_p.V227L	p.V420L	NM_001162407	NP_004062	P49759	CLK1_HUMAN			9	1593	-			378			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.1258G>T	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	C	1.759	-0.487345	0.04352	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.17528	2.27;2.27;2.27	5.1	4.2	0.49525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.205350	0.42172	D	0.000753	T	0.02649	0.0080	N	0.00121	-2.07	0.35566	D	0.805082	B;B;B;B	0.09022	0.001;0.002;0.0;0.001	B;B;B;B	0.12837	0.008;0.005;0.005;0.005	T	0.37865	-0.9687	10	0.02654	T	1	.	8.1359	0.31054	0.0:0.7135:0.1484:0.138	.	420;348;378;201	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	L	378;348;201;420	ENSP00000326830:V378L;ENSP00000386358:V201L;ENSP00000394734:V420L	ENSP00000326830:V378L	V	-	1	0	CLK1	201427980	0.035000	0.19736	0.999000	0.59377	0.856000	0.48823	0.250000	0.18235	2.525000	0.85131	0.563000	0.77884	GTA		0.388	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			48	80	0	0	0	1	0	48	80				
TROVE2	6738	broad.mit.edu	37	1	193038698	193038698	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:193038698A>G	ENST00000367446.3	+	2	724	c.514A>G	c.(514-516)Aaa>Gaa	p.K172E	TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367444.3_Missense_Mutation_p.K172E|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000400968.2_Missense_Mutation_p.K172E|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000367441.1_Missense_Mutation_p.K172E|TROVE2_ENST00000367445.3_Missense_Mutation_p.K172E|TROVE2_ENST00000367443.1_Missense_Mutation_p.K172E	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	172	RNA-binding. {ECO:0000250}.|TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TACAAAATATAAACAGAGAAA	0.458																																						uc001gss.3																			0				biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						c.(514-516)Aaa>Gaa		Homo sapiens TROVE domain family, member 2 (TROVE2), transcript variant 5, mRNA.							81.0	79.0	79.0					1																	193038698		1890	4119	6009	SO:0001583	missense	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	RNA binding|protein binding	g.chr1:193038698A>G	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.514A>G	1.37:g.193038698A>G	ENSP00000356416:p.Lys172Glu					TROVE2_uc001gsu.2_Intron|TROVE2_uc001gsv.2_Missense_Mutation_p.K172E|TROVE2_uc009wyp.3_Missense_Mutation_p.K172E|TROVE2_uc001gsw.3_Missense_Mutation_p.K172E|TROVE2_uc009wyq.3_Missense_Mutation_p.K172E|TROVE2_uc001gsx.2_Missense_Mutation_p.K172E	p.K172E	NM_001173524	NP_004591	P10155	RO60_HUMAN			1	890	+			172			TROVE.		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	c.514A>G	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.883187	0.91740	.	.	ENSG00000116747	ENST00000400968;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441;ENST00000512587	T;T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44;2.44	5.75	5.75	0.90469	TROVE (2);	0.047145	0.85682	D	0.000000	T	0.37625	0.1010	M	0.80616	2.505	0.80722	D	1	P;P;P;D	0.58268	0.648;0.648;0.869;0.982	P;P;P;P	0.56865	0.652;0.652;0.583;0.808	T	0.20773	-1.0265	10	0.19590	T	0.45	-1.045	16.0663	0.80878	1.0:0.0:0.0:0.0	.	172;172;172;172	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	E	172;172;172;172;172;172;113	ENSP00000383752:K172E;ENSP00000356416:K172E;ENSP00000356413:K172E;ENSP00000356415:K172E;ENSP00000356414:K172E;ENSP00000356411:K172E;ENSP00000424612:K113E	ENSP00000356411:K172E	K	+	1	0	TROVE2	191305321	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.770000	0.91746	2.201000	0.70794	0.533000	0.62120	AAA		0.458	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		43	110	0	0	0	1	0	43	110				
AGBL1	123624	broad.mit.edu	37	15	86697783	86697783	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr15:86697783G>T	ENST00000441037.2	+	3	342	c.247G>T	c.(247-249)Gcc>Tcc	p.A83S	AGBL1_ENST00000421325.2_Missense_Mutation_p.A83S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	83					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCGTGTGTTTGCCTCCAGTGG	0.522																																						uc002blz.1																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(247-249)Gcc>Tcc		Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.							97.0	98.0	98.0					15																	86697783		2025	4191	6216	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86697783G>T	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.247G>T	15.37:g.86697783G>T	ENSP00000413001:p.Ala83Ser						p.A83S	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			2	327	+			83					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.247G>T	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	7.282	0.609293	0.14066	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	T	0.56444	0.46	5.41	4.49	0.54785	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.35913	0.0948	L	0.31578	0.945	0.80722	D	1	B	0.27882	0.192	B	0.25987	0.065	T	0.11518	-1.0584	9	0.07030	T	0.85	-9.5684	11.8983	0.52669	0.0:0.0:0.8258:0.1742	.	83	Q96MI9	CBPC4_HUMAN	S	112;83	ENSP00000397173:A83S	ENSP00000397173:A83S	A	+	1	0	AGBL1	84498787	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.168000	0.42424	1.393000	0.46605	0.655000	0.94253	GCC		0.522	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		6	42	0	0	0	1	0	6	42				
TRIM34	53840	broad.mit.edu	37	11	5653565	5653565	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr11:5653565G>C	ENST00000514226.1	+	2	341	c.4G>C	c.(4-6)Gct>Cct	p.A2P	HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.A356P|TRIM34_ENST00000429814.2_Missense_Mutation_p.A2P|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.A2P	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	2					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGCAATGGCTTCAAAAAT	0.517											OREG0003725	type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001mbf.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33						c.(1066-1068)Gct>Cct		Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.							122.0	109.0	113.0					11																	5653565		2201	4297	6498	SO:0001583	missense	445372					intracellular	zinc ion binding	g.chr11:5653565G>C	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.4G>C	11.37:g.5653565G>C	ENSP00000422947:p.Ala2Pro		OREG0003725	type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	628	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbh.3_Missense_Mutation_p.A2P|TRIM6-TRIM34_uc001mbi.3_Missense_Mutation_p.A2P|TRIM6-TRIM34_uc001mbj.3_Missense_Mutation_p.A2P	p.A356P	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	7	1329	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	356					D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	c.1066G>C	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570944	0.86542	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;D	0.84730	-0.71;-0.71;-0.71;-1.89	3.07	3.07	0.35406	.	1.201000	0.06473	N	0.731518	D	0.93746	0.8001	M	0.89968	3.075	0.30447	N	0.775669	D;D;P	0.76494	0.999;0.992;0.799	D;D;B	0.78314	0.991;0.935;0.292	D	0.84976	0.0885	10	0.66056	D	0.02	.	12.3957	0.55382	0.0:0.0:1.0:0.0	.	2;2;356	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	P	356;2;2;2;356	ENSP00000422947:A2P;ENSP00000402595:A2P;ENSP00000395982:A2P;ENSP00000346916:A356P	ENSP00000402595:A2P	A	+	1	0	TRIM34;TRIM6-TRIM34	5610141	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	2.064000	0.41432	2.031000	0.59945	0.555000	0.69702	GCT		0.517	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827		23	124	0	0	0	1	0	23	124				
SNTB2	6645	broad.mit.edu	37	16	69279566	69279566	+	Silent	SNP	G	G	A	rs143099113		TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr16:69279566G>A	ENST00000336278.4	+	2	680	c.642G>A	c.(640-642)ccG>ccA	p.P214P	SNTB2_ENST00000528525.1_3'UTR	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	214	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		CAGATCTGCCGTGGGAAGGTG	0.448																																					NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)	uc002ewu.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13						c.(640-642)ccG>ccA		Homo sapiens syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) (SNTB2), mRNA.		G		0,4396		0,0,2198	203.0	195.0	197.0		642	-3.8	1.0	16	dbSNP_134	197	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SNTB2	NM_006750.3		0,2,6496	AA,AG,GG		0.0233,0.0,0.0154		214/541	69279566	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	6645					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding	g.chr16:69279566G>A	U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"""syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"""	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.642G>A	16.37:g.69279566G>A						SNTB2_uc021tkg.1_Non-coding_Transcript	p.P214P	NM_006750	NP_006741	Q13425	SNTB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.208)	1	662	+		Ovarian(137;0.101)	214			PH 1.		Q9BY09	Silent	SNP	ENST00000336278.4	37	c.642G>A	CCDS10873.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.537|9.537	1.112328|1.112328	0.20795|0.20795	0.0|0.0	2.33E-4|2.33E-4	ENSG00000168807|ENSG00000168807	ENST00000525632;ENST00000528525|ENST00000360496;ENST00000534235	.|.	.|.	.|.	5.75|5.75	-3.75|-3.75	0.04372|0.04372	.|.	.|.	.|.	.|.	.|.	T|T	0.40297|0.40297	0.1111|0.1111	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35798|0.35798	-0.9774|-0.9774	4|4	.|.	.|.	.|.	-0.4595|-0.4595	3.6992|3.6992	0.08376|0.08376	0.3021:0.3962:0.2169:0.0848|0.3021:0.3962:0.2169:0.0848	.|.	.|.	.|.	.|.	H|M	83;56|71;51	.|.	.|.	R|V	+|+	2|1	0|0	SNTB2|SNTB2	67837067|67837067	0.006000|0.006000	0.16342|0.16342	0.991000|0.991000	0.47740|0.47740	0.986000|0.986000	0.74619|0.74619	-0.970000|-0.970000	0.03810|0.03810	-0.448000|-0.448000	0.07128|0.07128	-0.378000|-0.378000	0.06908|0.06908	CGT|GTG		0.448	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268945.1			107	263	0	0	0	1	0	107	263				
TBC1D9B	23061	broad.mit.edu	37	5	179302050	179302050	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:179302050G>A	ENST00000356834.3	-	12	2075	c.2038C>T	c.(2038-2040)Ccc>Tcc	p.P680S	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.P680S	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	680	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTCGAAGGGCATGACGCTG	0.602																																						uc003mlh.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(2038-2040)Ccc>Tcc		Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.							101.0	92.0	95.0					5																	179302050		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding	g.chr5:179302050G>A	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2038C>T	5.37:g.179302050G>A	ENSP00000349291:p.Pro680Ser					TBC1D9B_uc003mli.3_Missense_Mutation_p.P680S|TBC1D9B_uc003mlj.3_Missense_Mutation_p.P680S|TBC1D9B_uc011dgv.2_5'Flank	p.P680S	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	2073	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	680			Rab-GAP TBC.		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.2038C>T	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629998	0.87660	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.28255	1.62;1.62	5.29	5.29	0.74685	Rab-GAP/TBC domain (4);	0.070373	0.64402	D	0.000016	T	0.54287	0.1849	L	0.60957	1.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.54207	-0.8328	10	0.56958	D	0.05	-31.5261	18.9378	0.92592	0.0:0.0:1.0:0.0	.	680;680;680	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	S	680	ENSP00000349291:P680S;ENSP00000347375:P680S	ENSP00000347375:P680S	P	-	1	0	TBC1D9B	179234656	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	9.771000	0.98977	2.469000	0.83416	0.491000	0.48974	CCC		0.602	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		4	130	0	0	0	1	0	4	130				
NCAPH2	29781	broad.mit.edu	37	22	50961303	50961303	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr22:50961303G>T	ENST00000420993.2	+	18	1601	c.1479G>T	c.(1477-1479)caG>caT	p.Q493H	NCAPH2_ENST00000395701.3_Missense_Mutation_p.Q493H|NCAPH2_ENST00000299821.11_Missense_Mutation_p.Q494H|CTA-384D8.36_ENST00000608319.1_RNA	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	493					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		AGCTGAGCCAGCGCATCAGGG	0.647																																						uc003blx.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24						c.(1480-1482)caG>caT		Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.							38.0	37.0	37.0					22																	50961303		2203	4300	6503	SO:0001583	missense	29781				chromosome condensation	chromosome|nucleus		g.chr22:50961303G>T	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1479G>T	22.37:g.50961303G>T	ENSP00000410088:p.Gln493His					NCAPH2_uc003blv.3_Missense_Mutation_p.Q493H|NCAPH2_uc003blr.4_Missense_Mutation_p.Q493H	p.Q494H	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	17	1604	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	493					B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	c.1482G>T	CCDS14094.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.19|18.19	3.568564|3.568564	0.65651|0.65651	.|.	.|.	ENSG00000025770|ENSG00000025770	ENST00000420993;ENST00000395701;ENST00000299821|ENST00000522304	.|.	.|.	.|.	5.24|5.24	3.1|3.1	0.35709|0.35709	.|.	0.381600|.	0.27198|.	N|.	0.020480|.	T|T	0.56572|0.56572	0.1994|0.1994	M|M	0.73598|0.73598	2.24|2.24	0.26950|0.26950	N|N	0.96605|0.96605	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.87578|.	0.997;0.997;0.998|.	T|T	0.49312|0.49312	-0.8953|-0.8953	9|5	0.52906|.	T|.	0.07|.	-20.0179|-20.0179	10.8482|10.8482	0.46754|0.46754	0.1577:0.0:0.8423:0.0|0.1577:0.0:0.8423:0.0	.|.	494;471;493|.	Q6IBW4-4;Q6IBW4-2;Q6IBW4|.	.;.;CNDH2_HUMAN|.	H|I	493;493;494|50	.|.	ENSP00000299821:Q494H|.	Q|S	+|+	3|2	2|0	NCAPH2|NCAPH2	49308169|49308169	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	0.803000|0.803000	0.27083|0.27083	0.576000|0.576000	0.29452|0.29452	0.650000|0.650000	0.86243|0.86243	CAG|AGC		0.647	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299		5	59	0	0	0	1	0	5	59				
SEC24B	10427	broad.mit.edu	37	4	110454843	110454843	+	Splice_Site	SNP	T	T	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:110454843T>A	ENST00000265175.5	+	22	3643		c.e22+2		SEC24B_ENST00000399100.2_Splice_Site|SEC24B_ENST00000504968.2_Splice_Site	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAGAAAATGGTCAGTAGATTT	0.284																																						uc011cfp.2																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.e23+2		Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.							144.0	131.0	135.0					4																	110454843		1809	4069	5878	SO:0001630	splice_region_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110454843T>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3588+2T>A	4.37:g.110454843T>A						SEC24B_uc003hzk.3_Splice_Site_p.M1196_splice|SEC24B_uc003hzl.3_Splice_Site_p.M1161_splice|SEC24B_uc011cfq.2_Splice_Site_p.M1195_splice|SEC24B_uc011cfr.2_Splice_Site_p.M1160_splice	p.M1226_splice	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	23	3733	+		Hepatocellular(203;0.217)	1196					B7ZKM8|B7ZKN4|Q0VG08	Splice_Site	SNP	ENST00000265175.5	37	c.3678_splice	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.397104	0.83120	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2322	0.82352	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEC24B	110674292	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.318000	0.79029	2.288000	0.76882	0.528000	0.53228	.		0.284	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2		Intron	27	188	0	0	0	1	0	27	188				
MAP3K1	4214	broad.mit.edu	37	5	56181836	56181836	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:56181836C>G	ENST00000399503.3	+	17	4060	c.4060C>G	c.(4060-4062)Ctc>Gtc	p.L1354V		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1354	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGAACAGTTACTCCGTGGCCT	0.338																																						uc003jqw.4																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(4060-4062)Ctc>Gtc		Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.							97.0	90.0	92.0					5																	56181836		1838	4086	5924	SO:0001583	missense	4214				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56181836C>G	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4060C>G	5.37:g.56181836C>G	ENSP00000382423:p.Leu1354Val						p.L1354V	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	16	4561	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1354			Protein kinase.			Missense_Mutation	SNP	ENST00000399503.3	37	c.4060C>G	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826812	0.71143	.	.	ENSG00000095015	ENST00000399503	T	0.27890	1.64	5.51	5.51	0.81932	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	0.64402	D	0.000003	T	0.47192	0.1432	M	0.68593	2.085	0.54753	D	0.999983	P	0.46952	0.887	P	0.54706	0.759	T	0.45205	-0.9277	10	0.72032	D	0.01	.	13.1533	0.59503	0.0:0.9171:0.0:0.0829	.	1354	Q13233	M3K1_HUMAN	V	1354	ENSP00000382423:L1354V	ENSP00000382423:L1354V	L	+	1	0	MAP3K1	56217593	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	3.802000	0.55553	2.591000	0.87537	0.655000	0.94253	CTC		0.338	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		3	139	0	0	0	1	0	3	139				
BDP1	55814	broad.mit.edu	37	5	70805633	70805633	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:70805633T>C	ENST00000358731.4	+	17	2977	c.2714T>C	c.(2713-2715)aTg>aCg	p.M905T	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	905	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CTGAAAGCAATGGGAAGAGAG	0.418																																						uc003kbp.1																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2713-2715)aTg>aCg		Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.							70.0	68.0	69.0					5																	70805633		1867	4097	5964	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70805633T>C	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2714T>C	5.37:g.70805633T>C	ENSP00000351575:p.Met905Thr					BDP1_uc003kbn.1_Missense_Mutation_p.M905T|BDP1_uc003kbo.3_Missense_Mutation_p.M905T	p.M905T	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	16	2977	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	905			9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.2714T>C	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.128732	0.00342	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.10005	2.92	3.97	-5.57	0.02521	.	1.146510	0.06665	N	0.765092	T	0.01558	0.0050	N	0.00128	-2.045	0.09310	N	0.999992	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.39840	-0.9594	10	0.13853	T	0.58	.	2.9655	0.05907	0.1041:0.3667:0.3123:0.2168	.	905;905;905	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	T	905;485	ENSP00000351575:M905T	ENSP00000351575:M905T	M	+	2	0	BDP1	70841389	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.599000	0.05700	-1.822000	0.01211	-3.626000	0.00027	ATG		0.418	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		32	86	0	0	0	1	0	32	86				
PPP2R1A	5518	broad.mit.edu	37	19	52719096	52719096	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr19:52719096T>A	ENST00000322088.6	+	7	930	c.872T>A	c.(871-873)aTg>aAg	p.M291K	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.M236K|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.M112K	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	291	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		cagaacCTGATGAAAGACTGT	0.612			Mis		clear cell ovarian carcinoma																																	uc002pyp.3				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(871-873)aTg>aAg		Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.							67.0	63.0	65.0					19																	52719096		2203	4300	6503	SO:0001583	missense	5518				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52719096T>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.872T>A	19.37:g.52719096T>A	ENSP00000324804:p.Met291Lys					PPP2R1A_uc010ydk.2_Missense_Mutation_p.M236K|PPP2R1A_uc010epm.1_Missense_Mutation_p.M331K|PPP2R1A_uc002pyq.3_Missense_Mutation_p.M112K	p.M291K	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	6	1167	+			291			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.872T>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589151	0.86851	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06528	3.29;3.29	4.67	4.67	0.58626	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.08582	0.0213	L	0.39898	1.24	0.51012	D	0.9999	D;P;P	0.54047	0.964;0.879;0.879	P;B;B	0.45474	0.482;0.329;0.329	T	0.05500	-1.0881	10	0.87932	D	0	-35.5917	12.4296	0.55567	0.0:0.0:0.0:1.0	.	236;291;291	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	K	281;211;291;236	ENSP00000324804:M291K;ENSP00000415067:M236K	ENSP00000324804:M291K	M	+	2	0	PPP2R1A	57410908	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.085000	0.76875	2.099000	0.63709	0.533000	0.62120	ATG		0.612	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		4	137	0	0	0	1	0	4	137				
PCDHB1	29930	broad.mit.edu	37	5	140433491	140433491	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:140433491G>T	ENST00000306549.3	+	1	2513	c.2436G>T	c.(2434-2436)caG>caT	p.Q812H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	812					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCATGACCAGGTATCTGATG	0.418																																						uc003lik.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(2434-2436)caG>caT		Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.							51.0	56.0	55.0					5																	140433491		2200	4299	6499	SO:0001583	missense	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140433491G>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.2436G>T	5.37:g.140433491G>T	ENSP00000307234:p.Gln812His						p.Q812H	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2513	+			812					Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.2436G>T	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726714	0.30593	.	.	ENSG00000171815	ENST00000306549	T	0.49432	0.78	5.75	3.55	0.40652	.	0.631179	0.13057	N	0.417229	T	0.27419	0.0673	N	0.08118	0	0.09310	N	1	B	0.28512	0.214	B	0.31751	0.135	T	0.17048	-1.0382	10	0.54805	T	0.06	.	5.8316	0.18584	0.5276:0.0:0.4724:0.0	.	812	Q9Y5F3	PCDB1_HUMAN	H	812	ENSP00000307234:Q812H	ENSP00000307234:Q812H	Q	+	3	2	PCDHB1	140413675	0.002000	0.14202	0.065000	0.19835	0.858000	0.48976	1.140000	0.31516	1.265000	0.44215	0.650000	0.86243	CAG		0.418	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		31	139	0	0	0	1	0	31	139				
MALSU1	115416	broad.mit.edu	37	7	23349054	23349054	+	Silent	SNP	T	T	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr7:23349054T>C	ENST00000466681.1	+	4	750	c.597T>C	c.(595-597)taT>taC	p.Y199Y		NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	199					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)											TACGTTCTTATGATGACCAGT	0.403																																						uc003swd.1																			0											c.(595-597)taT>taC		Homo sapiens chromosome 7 open reading frame 30 (C7orf30), mRNA.							140.0	131.0	134.0					7																	23349054		2203	4300	6503	SO:0001819	synonymous_variant	115416					mitochondrion		g.chr7:23349054T>C	BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"""chromosome 7 open reading frame 30"""	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.597T>C	7.37:g.23349054T>C						MALSU1_uc003swe.3_Non-coding_Transcript	p.Y199Y	NM_138446	NP_612455	Q96EH3	CG030_HUMAN			3	629	+			199					A4D154	Silent	SNP	ENST00000466681.1	37	c.597T>C	CCDS5381.1																																																																																				0.403	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250241.2	NM_138446		12	154	0	0	0	1	0	12	154				
TCEB3B	51224	broad.mit.edu	37	18	44560437	44560437	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr18:44560437C>T	ENST00000332567.4	-	1	1551	c.1199G>A	c.(1198-1200)gGa>gAa	p.G400E	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	400					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCAGATTTTCCAGTCTTTTT	0.478																																						uc002lcr.1																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1198-1200)gGa>gAa		Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.							114.0	102.0	106.0					18																	44560437		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560437C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1199G>A	18.37:g.44560437C>T	ENSP00000331302:p.Gly400Glu					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	p.G400E	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			0	1552	-			400					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.1199G>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	6.634	0.485375	0.12641	.	.	ENSG00000206181	ENST00000332567	T	0.06068	3.35	2.19	-0.409	0.12378	.	0.983616	0.08203	U	0.981964	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	P	0.39250	0.665	B	0.29598	0.104	T	0.46498	-0.9187	10	0.22706	T	0.39	.	6.8852	0.24195	0.4157:0.5843:0.0:0.0	.	400	Q8IYF1	ELOA2_HUMAN	E	400	ENSP00000331302:G400E	ENSP00000331302:G400E	G	-	2	0	TCEB3B	42814435	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.194000	0.09559	-0.070000	0.12908	-0.388000	0.06559	GGA		0.478	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		50	164	0	0	0	1	0	50	164				
RAP1GAP	5909	broad.mit.edu	37	1	21928276	21928276	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:21928276G>A	ENST00000374765.4	-	20	1753	c.1553C>T	c.(1552-1554)gCt>gTt	p.A518V	RAP1GAP_ENST00000290101.4_Missense_Mutation_p.A582V|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.A549V|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.A603V|RAP1GAP_ENST00000542643.2_Missense_Mutation_p.A544V	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	518					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CTTCTGACCAGCCGGAGGGCT	0.667																																						uc001bev.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(1807-1809)gCt>gTt		Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.							51.0	48.0	49.0					1																	21928276		2203	4300	6503	SO:0001583	missense	5909				regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity	g.chr1:21928276G>A	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1553C>T	1.37:g.21928276G>A	ENSP00000363897:p.Ala518Val					RAP1GAP_uc001bew.3_Missense_Mutation_p.A582V|RAP1GAP_uc001bey.3_Missense_Mutation_p.A544V|RAP1GAP_uc001bex.3_Missense_Mutation_p.A518V	p.A603V	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	17	1826	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	518					J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	c.1808C>T	CCDS218.1	.	.	.	.	.	.	.	.	.	.	g	14.53	2.564132	0.45694	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	D;D;D;D	0.89415	-2.48;-2.48;-2.51;-2.47	4.72	4.72	0.59763	.	0.398003	0.25394	N	0.030988	T	0.81494	0.4834	L	0.38175	1.15	0.25936	N	0.982931	P;P;B;P	0.39862	0.692;0.454;0.356;0.454	B;B;B;B	0.34536	0.117;0.038;0.185;0.038	T	0.75551	-0.3278	10	0.39692	T	0.17	-5.9044	10.971	0.47438	0.0:0.189:0.811:0.0	.	544;518;548;518	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	V	582;549;544;518;548;603	ENSP00000290101:A582V;ENSP00000363893:A549V;ENSP00000441661:A544V;ENSP00000363897:A518V	ENSP00000290101:A582V	A	-	2	0	RAP1GAP	21800863	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	3.163000	0.50763	2.452000	0.82932	0.556000	0.70494	GCT		0.667	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		12	65	0	0	0	1	0	12	65				
ZMYM1	79830	broad.mit.edu	37	1	35579878	35579878	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:35579878T>A	ENST00000373330.1	+	11	2621	c.2447T>A	c.(2446-2448)tTa>tAa	p.L816*	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Nonsense_Mutation_p.L816*			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	816						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GATCGTACATTACTATCTGTG	0.343																																						uc001bym.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(2446-2448)tTa>tAa		Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.							99.0	89.0	92.0					1																	35579878		1874	4119	5993	SO:0001587	stop_gained	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35579878T>A	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2447T>A	1.37:g.35579878T>A	ENSP00000362427:p.Leu816*					ZMYM1_uc001byn.3_Nonsense_Mutation_p.L816*|ZMYM1_uc010ohu.2_Nonsense_Mutation_p.L797*|ZMYM1_uc001byo.3_Nonsense_Mutation_p.L456*|ZMYM1_uc009vut.3_Nonsense_Mutation_p.L741*	p.L816*	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN			9	2593	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	816					D3DPR7|Q7Z3Q4	Nonsense_Mutation	SNP	ENST00000373330.1	37	c.2447T>A	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.883886	0.51908	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	.	.	.	3.91	3.91	0.45181	.	0.000000	0.37437	N	0.002089	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.3508	9.4269	0.38586	0.0:0.0:0.0:1.0	.	.	.	.	X	816;741;816	.	.	L	+	2	0	ZMYM1	35352465	0.002000	0.14202	0.003000	0.11579	0.014000	0.08584	1.321000	0.33678	2.006000	0.58801	0.374000	0.22700	TTA		0.343	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		4	121	0	0	0	1	0	4	121				
CFAP46	54777	broad.mit.edu	37	10	134648162	134648162	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr10:134648162C>T	ENST00000368586.5	-	48	6962	c.6862G>A	c.(6862-6864)Gcc>Acc	p.A2288T	TTC40_ENST00000263170.5_Missense_Mutation_p.A449T	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CAGTACCTGGCCTTGGAGAGG	0.637																																						uc021qbc.1																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(6862-6864)Gcc>Acc		Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.							39.0	39.0	39.0					10																	134648162		2203	4300	6503	SO:0001583	missense	54777							g.chr10:134648162C>T																												ENST00000368586.5:c.6862G>A	10.37:g.134648162C>T	ENSP00000357575:p.Ala2288Thr						p.A2288T	NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN			47	6963	-			449						Missense_Mutation	SNP	ENST00000368586.5	37	c.6862G>A	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	C	3.564	-0.089016	0.07097	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.10860	3.06;2.83	3.58	0.362	0.16113	.	1.685140	0.03597	N	0.232762	T	0.07593	0.0191	L	0.27053	0.805	0.09310	N	1	B	0.17268	0.021	B	0.14023	0.01	T	0.36016	-0.9765	10	0.12430	T	0.62	.	5.122	0.14865	0.0:0.4544:0.417:0.1286	.	449	Q8IYW2	CJ092_HUMAN	T	2288;449	ENSP00000357575:A2288T;ENSP00000263170:A449T	ENSP00000263170:A449T	A	-	1	0	C10orf93	134498152	0.000000	0.05858	0.021000	0.16686	0.044000	0.14063	-0.581000	0.05820	-0.032000	0.13758	0.462000	0.41574	GCC		0.637	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			4	20	0	0	0	1	0	4	20				
ADAM15	8751	broad.mit.edu	37	1	155029547	155029547	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:155029547C>T	ENST00000356955.2	+	11	1219	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	ADAM15_ENST00000368412.3_Missense_Mutation_p.A373V|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000359280.4_Missense_Mutation_p.A373V|ADAM15_ENST00000360674.4_Missense_Mutation_p.A373V|ADAM15_ENST00000271836.6_Missense_Mutation_p.A373V|ADAM15_ENST00000531455.1_Missense_Mutation_p.A383V|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000449910.2_Missense_Mutation_p.A373V|ADAM15_ENST00000447332.3_Missense_Mutation_p.A357V|ADAM15_ENST00000355956.2_Missense_Mutation_p.A373V|ADAM15_ENST00000368410.2_Intron	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	373	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCAGCCCCAGCCAAGACCTGC	0.642																																						uc001fgr.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(1117-1119)gCc>gTc		Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.							40.0	43.0	42.0					1																	155029547		2203	4300	6503	SO:0001583	missense	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding	g.chr1:155029547C>T	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1118C>T	1.37:g.155029547C>T	ENSP00000349436:p.Ala373Val					LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_Missense_Mutation_p.A58V|ADAM15_uc010pet.1_Missense_Mutation_p.A357V|ADAM15_uc010peu.1_Missense_Mutation_p.A390V|ADAM15_uc001fgx.1_Missense_Mutation_p.A373V|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Missense_Mutation_p.A373V|ADAM15_uc001fgs.1_Missense_Mutation_p.A373V|ADAM15_uc010pev.1_Missense_Mutation_p.A383V|ADAM15_uc001fgu.1_Missense_Mutation_p.A373V|ADAM15_uc001fgv.1_Missense_Mutation_p.A373V|ADAM15_uc001fgw.1_Missense_Mutation_p.A373V	p.A373V	NM_207197	NP_997080	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		10	1219	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		373			Peptidase M12B.		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.1118C>T	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422378	0.83559	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	4.76	3.85	0.44370	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.44688	D	0.000428	T	0.59649	0.2209	L	0.44542	1.39	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.76494	0.988;0.988;0.974;0.999;0.997;0.984;0.984;0.984;0.997;0.999;0.988	D;D;P;D;D;P;P;P;D;D;D	0.79108	0.909;0.909;0.688;0.986;0.984;0.853;0.853;0.853;0.984;0.992;0.909	T	0.63332	-0.6661	10	0.52906	T	0.07	.	8.6793	0.34198	0.0:0.8973:0.0:0.1027	.	383;390;357;373;373;373;373;373;373;373;370	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	V	373;373;373;373;373;373;373;383	ENSP00000349436:A373V;ENSP00000403843:A373V;ENSP00000352226:A373V;ENSP00000353892:A373V;ENSP00000357397:A373V;ENSP00000348227:A373V;ENSP00000271836:A373V;ENSP00000432927:A383V	ENSP00000271836:A373V	A	+	2	0	ADAM15	153296171	0.183000	0.23186	1.000000	0.80357	0.993000	0.82548	1.126000	0.31344	1.240000	0.43803	0.655000	0.94253	GCC		0.642	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		13	52	0	0	0	1	0	13	52				
PRKDC	5591	broad.mit.edu	37	8	48749054	48749054	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr8:48749054C>T	ENST00000314191.2	-	59	7849	c.7793G>A	c.(7792-7794)aGt>aAt	p.S2598N	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.S2598N	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2599	KIP-binding.		R -> Q (in dbSNP:rs55923149). {ECO:0000269|PubMed:17344846}.		B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GAGAACAGTACTTCGGAAACG	0.463								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(7792-7794)aGt>aAt	Non-homologous end-joining	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.							34.0	36.0	35.0					8																	48749054		1952	4145	6097	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48749054C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7793G>A	8.37:g.48749054C>T	ENSP00000313420:p.Ser2598Asn					PRKDC_uc003xqj.3_Missense_Mutation_p.S2598N	p.S2598N	NM_006904	NP_008835	P78527	PRKDC_HUMAN			58	7850	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2599		R -> Q (in dbSNP:rs55923149).	KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.7793G>A		.	.	.	.	.	.	.	.	.	.	C	19.01	3.743836	0.69418	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02140	4.51;4.43	5.67	5.67	0.87782	.	0.049104	0.85682	D	0.000000	T	0.07999	0.0200	L	0.46614	1.455	0.58432	D	0.999996	D;D	0.71674	0.972;0.998	P;P	0.62649	0.786;0.905	T	0.51601	-0.8685	10	0.20046	T	0.44	.	18.745	0.91789	0.0:1.0:0.0:0.0	.	2598;2599	E7EUY0;P78527	.;PRKDC_HUMAN	N	2598	ENSP00000313420:S2598N;ENSP00000345182:S2598N	ENSP00000313420:S2598N	S	-	2	0	PRKDC	48911607	1.000000	0.71417	0.992000	0.48379	0.426000	0.31534	3.604000	0.54081	2.671000	0.90904	0.585000	0.79938	AGT		0.463	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		3	26	0	0	0	1	0	3	26				
ENPP2	5168	broad.mit.edu	37	8	120575209	120575209	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr8:120575209C>T	ENST00000075322.6	-	24	2367	c.2309G>A	c.(2308-2310)aGc>aAc	p.S770N	ENPP2_ENST00000427067.2_Missense_Mutation_p.S791N|ENPP2_ENST00000259486.6_Missense_Mutation_p.S822N|ENPP2_ENST00000522167.1_Missense_Mutation_p.S405N|ENPP2_ENST00000522826.1_Missense_Mutation_p.S795N	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	770					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGTGATGATGCTGTAGTAGTG	0.507																																					Melanoma(20;305 879 2501 4818 31020)	uc003yos.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2464-2466)aGc>aAc		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.							141.0	118.0	126.0					8																	120575209		2203	4300	6503	SO:0001583	missense	5168				G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120575209C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2309G>A	8.37:g.120575209C>T	ENSP00000075322:p.Ser770Asn					ENPP2_uc011lic.2_Missense_Mutation_p.S308N|ENPP2_uc003yor.2_Missense_Mutation_p.S405N|ENPP2_uc010mdd.2_Missense_Mutation_p.S795N|ENPP2_uc003yot.2_Missense_Mutation_p.S770N	p.S822N	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		24	2551	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		770					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.2465G>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456081	0.63401	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.8	5.8	0.92144	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.460028	0.26895	N	0.021955	T	0.61311	0.2337	N	0.22421	0.69	0.29029	N	0.885805	P;P;B;B;P	0.38745	0.645;0.626;0.393;0.439;0.535	B;B;B;B;B	0.43838	0.433;0.403;0.223;0.195;0.223	T	0.64296	-0.6441	10	0.72032	D	0.01	.	16.532	0.84364	0.0:0.8609:0.139:0.0	.	308;795;770;822;405	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	N	822;791;405;795;770	ENSP00000259486:S822N;ENSP00000403315:S791N;ENSP00000429476:S405N;ENSP00000428291:S795N;ENSP00000075322:S770N	ENSP00000075322:S770N	S	-	2	0	ENPP2	120644390	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.408000	0.52651	2.732000	0.93576	0.650000	0.86243	AGC		0.507	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			8	68	0	0	0	1	0	8	68				
HEYL	26508	broad.mit.edu	37	1	40092678	40092678	+	Missense_Mutation	SNP	G	G	A	rs139668981	byFrequency	TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:40092678G>A	ENST00000372852.3	-	5	807	c.488C>T	c.(487-489)tCg>tTg	p.S163L	HEYL_ENST00000535435.1_Missense_Mutation_p.S135L	NM_014571.3	NP_055386	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	163	Pro-rich.				atrioventricular valve morphogenesis (GO:0003181)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to BMP stimulus (GO:0071773)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|glomerulus development (GO:0032835)|mesenchymal cell development (GO:0014031)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|pulmonary valve morphogenesis (GO:0003184)|skeletal muscle cell differentiation (GO:0035914)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-1 domain binding (GO:0050683)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGGCGTGGGCGAAGGCTCCAT	0.652																																						uc001cdp.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(487-489)tCg>tTg		Homo sapiens hairy/enhancer-of-split related with YRPW motif-like (HEYL), mRNA.		G	LEU/SER	3,4403	6.2+/-15.9	0,3,2200	67.0	60.0	63.0		488	2.0	0.1	1	dbSNP_134	63	0,8600		0,0,4300	yes	missense	HEYL	NM_014571.3	145	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	163/329	40092678	3,13003	2203	4300	6503	SO:0001583	missense	26508				Notch signaling pathway|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:40092678G>A	BC006087	CCDS439.1	1p34.3	2013-10-17	2013-10-17		ENSG00000163909	ENSG00000163909		"""Basic helix-loop-helix proteins"""	4882	protein-coding gene	gene with protein product	"""hairy/enhancer-of-split related with YRPW motif 3"""	609034	"""hairy/enhancer-of-split related with YRPW motif-like"""			10415358, 10860664	Standard	NM_014571		Approved	bHLHb33, HEY3, HESR3	uc001cdp.3	Q9NQ87	OTTHUMG00000000458	ENST00000372852.3:c.488C>T	1.37:g.40092678G>A	ENSP00000361943:p.Ser163Leu					HEYL_uc010oiw.2_Missense_Mutation_p.S135L	p.S163L	NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		4	539	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	163			Pro-rich.		Q5TG99	Missense_Mutation	SNP	ENST00000372852.3	37	c.488C>T	CCDS439.1	.	.	.	.	.	.	.	.	.	.	G	7.414	0.635416	0.14322	6.81E-4	0.0	ENSG00000163909	ENST00000372852;ENST00000535435	T;T	0.60040	0.23;0.22	5.02	2.02	0.26589	.	0.341096	0.30501	N	0.009484	T	0.49047	0.1534	L	0.58101	1.795	0.20196	N	0.999926	B	0.13145	0.007	B	0.08055	0.003	T	0.43653	-0.9378	10	0.49607	T	0.09	-16.095	8.0745	0.30708	0.1279:0.1326:0.7395:0.0	.	163	Q9NQ87	HEYL_HUMAN	L	163;135	ENSP00000361943:S163L;ENSP00000439071:S135L	ENSP00000361943:S163L	S	-	2	0	HEYL	39865265	0.002000	0.14202	0.083000	0.20561	0.107000	0.19398	0.847000	0.27696	0.131000	0.18576	0.462000	0.41574	TCG		0.652	HEYL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001179.2	NM_014571		40	51	0	0	0	1	0	40	51				
PTEN	5728	broad.mit.edu	37	10	89711928	89711928	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr10:89711928delA	ENST00000371953.3	+	6	1903	c.546delA	c.(544-546)ttafs	p.L182fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	182	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.L182fs*16(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.K183fs*7(1)|p.L182F(1)|p.V175fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCTACCTGTTAAAGAATCATC	0.388		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		60	Whole gene deletion(37)|Deletion - Frameshift(13)|Unknown(4)|Complex - frameshift(3)|Deletion - In frame(1)|Insertion - Frameshift(1)|Substitution - Missense(1)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.L182fs*16(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.L182F(2)|p.Y27_N212>Y(2)|p.L181fs*2(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.K183fs*7(1)|p.V175fs*3(1)|p.L182*(1)	prostate(16)|central_nervous_system(15)|skin(10)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)|pancreas(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(544-546)ttafs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							144.0	144.0	144.0					10																	89711928		2203	4300	6503	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711928delA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.546delA	10.37:g.89711928delA	ENSP00000361021:p.Leu182fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.L182fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1578	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	182			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.546delA	CCDS31238.1																																																																																				0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		87	77						87	77	---	---	---	---
