#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
CASZ1	54897	broad.mit.edu	37	1	10720504	10720504	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:10720504C>T	ENST00000377022.3	-	6	912	c.595G>A	c.(595-597)Gag>Aag	p.E199K	CASZ1_ENST00000344008.5_Missense_Mutation_p.E199K|CASZ1_ENST00000478728.2_5'Flank	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	199					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CTGGCCAGCTCGTCCCGCGTG	0.637																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(595-597)Gag>Aag		castor zinc finger 1							37.0	41.0	39.0					1																	10720504		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10720504C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.595G>A	1.37:g.10720504C>T	ENSP00000366221:p.Glu199Lys					CASZ1_ENST00000344008.5_Missense_Mutation_p.E199K	p.E199K	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	6	912	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	199					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.595G>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808422	0.90707	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	L	0.34521	1.04	0.52099	D	0.999949	P;D;P;D	0.89917	0.952;0.982;0.952;1.0	B;P;P;D	0.79108	0.274;0.721;0.487;0.992	T	0.67511	-0.5652	9	0.41790	T	0.15	-29.2558	17.3191	0.87231	0.0:1.0:0.0:0.0	.	223;199;199;199	B7Z1S3;B3KRV8;Q86V15-2;Q86V15	.;.;.;CASZ1_HUMAN	K	199	.	ENSP00000339445:E199K	E	-	1	0	CASZ1	10643091	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.372000	0.79612	2.160000	0.67779	0.491000	0.48974	GAG		0.637	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		5	42	0	0	0	1	0	5	42				
OSR1	130497	broad.mit.edu	37	2	19553234	19553234	+	Silent	SNP	G	G	C			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr2:19553234G>C	ENST00000272223.2	-	2	677	c.333C>G	c.(331-333)ctC>ctG	p.L111L	OSR1_ENST00000536433.1_Silent_p.L111L	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	111					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				GCTTGGTCTTGAGCGCTGGAA	0.637																																						ENST00000536433.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(331-333)ctC>ctG		odd-skipped related transciption factor 1							39.0	41.0	40.0					2																	19553234		2203	4300	6503	SO:0001819	synonymous_variant	130497				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding	g.chr2:19553234G>C	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.333C>G	2.37:g.19553234G>C						OSR1_ENST00000272223.2_Silent_p.L111L	p.L111L			Q8TAX0	OSR1_HUMAN			1	3443	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)	111					B3KV97|D6W521	Silent	SNP	ENST00000272223.2	37	c.333C>G	CCDS1694.1																																																																																				0.637	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	NM_145260		6	42	0	0	0	1	0	6	42				
RAI1	10743	broad.mit.edu	37	17	17697666	17697666	+	Silent	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr17:17697666C>T	ENST00000353383.1	+	3	1873	c.1404C>T	c.(1402-1404)ctC>ctT	p.L468L	RAI1_ENST00000261641.6_Silent_p.L468L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	468					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TCAAGAACCTCGTGTCCAGGA	0.627																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(1402-1404)ctC>ctT		retinoic acid induced 1							54.0	57.0	56.0					17																	17697666		2203	4299	6502	SO:0001819	synonymous_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17697666C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.1404C>T	17.37:g.17697666C>T						RAI1_ENST00000261641.6_Silent_p.L468L	p.L468L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	1873	+			468					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	c.1404C>T	CCDS11188.1																																																																																				0.627	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		5	64	0	0	0	1	0	5	64				
RCBTB2	1102	broad.mit.edu	37	13	49073886	49073886	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr13:49073886A>G	ENST00000344532.3	-	13	1678	c.1255T>C	c.(1255-1257)Ttt>Ctt	p.F419L	RCBTB2_ENST00000544492.1_Missense_Mutation_p.F145L|RCBTB2_ENST00000430805.2_Missense_Mutation_p.F424L	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	419	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GACGAACGAAAATGCTCACAT	0.458																																						ENST00000344532.3																			0				breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31						c.(1255-1257)Ttt>Ctt		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2							92.0	84.0	86.0					13																	49073886		2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49073886A>G	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1255T>C	13.37:g.49073886A>G	ENSP00000345144:p.Phe419Leu					RCBTB2_ENST00000544492.1_Missense_Mutation_p.F145L|RCBTB2_ENST00000430805.2_Missense_Mutation_p.F424L	p.F419L	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	13	1678	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	419			BTB 1.		B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.1255T>C	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.986499	0.53934	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.56776	0.44;0.44;0.44	5.24	5.24	0.73138	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.091750	0.85682	D	0.000000	T	0.70272	0.3205	M	0.69248	2.105	0.80722	D	1	P;P;D;P	0.63046	0.868;0.811;0.992;0.683	P;P;D;P	0.76071	0.803;0.88;0.987;0.755	T	0.71787	-0.4487	10	0.49607	T	0.09	.	15.4616	0.75363	1.0:0.0:0.0:0.0	.	145;424;371;419	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	L	419;371;424;424;145	ENSP00000345144:F419L;ENSP00000389910:F424L;ENSP00000443862:F145L	ENSP00000345144:F419L	F	-	1	0	RCBTB2	47971887	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	8.867000	0.92314	2.113000	0.64589	0.392000	0.25879	TTT		0.458	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		12	67	0	0	0	1	0	12	67				
GIMAP4	55303	broad.mit.edu	37	7	150269411	150269411	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr7:150269411G>C	ENST00000255945.2	+	3	428	c.253G>C	c.(253-255)Gac>Cac	p.D85H	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.D99H	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	85	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTCGTAGTTGACACACCAGG	0.498																																						ENST00000255945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(253-255)Gac>Cac		GTPase, IMAP family member 4							119.0	101.0	107.0					7																	150269411		2203	4300	6503	SO:0001583	missense	55303						GTP binding	g.chr7:150269411G>C	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.253G>C	7.37:g.150269411G>C	ENSP00000255945:p.Asp85His					GIMAP4_ENST00000461940.1_Missense_Mutation_p.D99H|GIMAP4_ENST00000494750.1_3'UTR	p.D85H	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	428	+			85						Missense_Mutation	SNP	ENST00000255945.2	37	c.253G>C	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893715	0.52121	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000479232	D;D;D	0.94092	-3.35;-3.35;-3.35	4.61	4.61	0.57282	AIG1 (1);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	H	0.98951	4.38	0.52099	D	0.999948	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98530	1.0627	10	0.87932	D	0	.	12.8024	0.57594	0.0:0.0:1.0:0.0	.	99;85	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	H	85;99;99	ENSP00000255945:D85H;ENSP00000419545:D99H;ENSP00000418615:D99H	ENSP00000255945:D85H	D	+	1	0	GIMAP4	149900344	1.000000	0.71417	0.617000	0.29091	0.050000	0.14768	7.035000	0.76517	2.416000	0.81992	0.655000	0.94253	GAC		0.498	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		3	54	0	0	0	1	0	3	54				
AP1AR	55435	broad.mit.edu	37	4	113189405	113189405	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr4:113189405C>T	ENST00000274000.5	+	10	1104	c.749C>T	c.(748-750)tCa>tTa	p.S250L	AP1AR_ENST00000309703.6_Missense_Mutation_p.S217L	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	250					cellular protein localization (GO:0034613)|negative regulation of cell motility (GO:2000146)|negative regulation of receptor recycling (GO:0001920)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|transport vesicle (GO:0030133)	AP-1 adaptor complex binding (GO:0035650)|kinesin binding (GO:0019894)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						AATCCTACATCAGCCTCTGAT	0.403																																						ENST00000274000.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						c.(748-750)tCa>tTa		adaptor-related protein complex 1 associated regulatory protein							104.0	99.0	101.0					4																	113189405		2203	4299	6502	SO:0001583	missense	55435				protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle		g.chr4:113189405C>T	AL136628	CCDS3696.1, CCDS47125.1	4q25	2009-09-28	2009-09-25	2009-09-25	ENSG00000138660	ENSG00000138660			28808	protein-coding gene	gene with protein product	"""gamma1-adaptin brefeldin A resistance"""	610851	"""chromosome 4 open reading frame 16"""	C4orf16		15775984	Standard	NM_018569		Approved	PRO0971, 2C18, gamma-BAR	uc003iaj.4	Q63HQ0	OTTHUMG00000132849	ENST00000274000.5:c.749C>T	4.37:g.113189405C>T	ENSP00000274000:p.Ser250Leu					AP1AR_ENST00000309703.6_Missense_Mutation_p.S217L	p.S250L	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN			10	1104	+			250					B2RCV7|Q96GG6|Q9H0V0|Q9P1L4	Missense_Mutation	SNP	ENST00000274000.5	37	c.749C>T	CCDS3696.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369667	0.82573	.	.	ENSG00000138660	ENST00000274000;ENST00000309703	T;T	0.61040	0.19;0.14	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.71126	0.3303	L	0.48362	1.52	0.58432	D	0.999995	D;D	0.67145	0.996;0.996	D;D	0.77557	0.99;0.99	T	0.73436	-0.3983	10	0.87932	D	0	-23.0168	17.3832	0.87409	0.0:1.0:0.0:0.0	.	217;250	Q63HQ0-2;Q63HQ0	.;AP1AR_HUMAN	L	250;217	ENSP00000274000:S250L;ENSP00000309023:S217L	ENSP00000274000:S250L	S	+	2	0	AP1AR	113408854	1.000000	0.71417	0.297000	0.24988	0.999000	0.98932	7.165000	0.77544	2.533000	0.85409	0.650000	0.86243	TCA		0.403	AP1AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256323.2	NM_018569		6	90	0	0	0	1	0	6	90				
FLG	2312	broad.mit.edu	37	1	152275878	152275878	+	Silent	SNP	C	C	T	rs370872906		TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:152275878C>T	ENST00000368799.1	-	3	11519	c.11484G>A	c.(11482-11484)tcG>tcA	p.S3828S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3828	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGTGACGCGACCCTGAGT	0.587									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11482-11484)tcG>tcA		filaggrin		C		0,4406		0,0,2203	287.0	286.0	286.0		11484	-4.6	0.0	1		286	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FLG	NM_002016.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		3828/4062	152275878	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275878C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11484G>A	1.37:g.152275878C>T						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S3828S	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11519	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3828			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11484G>A	CCDS30860.1																																																																																				0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		41	504	0	0	0	1	0	41	504				
IGKV1D-8	28904	broad.mit.edu	37	2	90260160	90260160	+	RNA	SNP	G	G	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr2:90260160G>T	ENST00000471857.1	+	0	444									immunoglobulin kappa variable 1D-8																		AGTGGCAGTGGATCTGGGACA	0.468																																						ENST00000471857.1																			0																				128.0	142.0	137.0					2																	90260160		1858	4102	5960			28904							g.chr2:90260160G>T	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90260160G>T														0	444	+									RNA	SNP	ENST00000471857.1	37																																																																																						0.468	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		33	178	1	0	3.90053e-15	1	4.10429e-15	33	178				
VPS33B	26276	broad.mit.edu	37	15	91557626	91557626	+	Nonsense_Mutation	SNP	G	G	A	rs368124813		TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr15:91557626G>A	ENST00000333371.3	-	4	630	c.277C>T	c.(277-279)Cga>Tga	p.R93*	VPS33B_ENST00000535906.1_Nonsense_Mutation_p.R66*|VPS33B_ENST00000535843.1_Nonsense_Mutation_p.R2*|VPS33B_ENST00000557358.1_5'UTR	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	93					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCAATGTATCGCATATTCTTG	0.418																																						ENST00000333371.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	GRCh37	CM065517	VPS33B	M		c.(277-279)Cga>Tga		vacuolar protein sorting 33 homolog B (yeast)		G	stop/ARG	0,4396		0,0,2198	220.0	210.0	213.0		277	5.1	1.0	15		213	1,8595	1.2+/-3.3	0,1,4297	no	stop-gained	VPS33B	NM_018668.3		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		93/618	91557626	1,12991	2198	4298	6496	SO:0001587	stop_gained	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91557626G>A	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.277C>T	15.37:g.91557626G>A	ENSP00000327650:p.Arg93*					VPS33B_ENST00000557358.1_5'UTR|VPS33B_ENST00000535843.1_Nonsense_Mutation_p.R2*|VPS33B_ENST00000535906.1_Nonsense_Mutation_p.R66*	p.R93*	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN			4	630	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		93					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Nonsense_Mutation	SNP	ENST00000333371.3	37	c.277C>T	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	G	40	8.159898	0.98683	0.0	1.16E-4	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	.	.	.	5.11	5.11	0.69529	.	0.065156	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-12.5918	12.3567	0.55180	0.0:0.0:0.8313:0.1687	.	.	.	.	X	93;66;2;48	.	ENSP00000327650:R93X	R	-	1	2	VPS33B	89358630	0.995000	0.38212	0.998000	0.56505	0.995000	0.86356	1.341000	0.33907	2.651000	0.90000	0.655000	0.94253	CGA		0.418	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		19	257	0	0	0	1	0	19	257				
ADAM29	11086	broad.mit.edu	37	4	175898456	175898456	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr4:175898456G>A	ENST00000359240.3	+	5	2450	c.1780G>A	c.(1780-1782)Gat>Aat	p.D594N	ADAM29_ENST00000404450.4_Missense_Mutation_p.D594N|ADAM29_ENST00000514159.1_Missense_Mutation_p.D594N|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.D594N	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	594	Cys-rich.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GAAGGGACCTGATATTGGTGA	0.418																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(1780-1782)Gat>Aat		ADAM metallopeptidase domain 29							200.0	181.0	187.0					4																	175898456		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898456G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1780G>A	4.37:g.175898456G>A	ENSP00000352177:p.Asp594Asn					ADAM29_ENST00000404450.4_Missense_Mutation_p.D594N|ADAM29_ENST00000445694.1_Missense_Mutation_p.D594N|ADAM29_ENST00000514159.1_Missense_Mutation_p.D594N	p.D594N	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2450	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	594			Cys-rich.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1780G>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212001	0.79240	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	3.69	3.69	0.42338	ADAM, cysteine-rich (2);	0.000000	0.37136	U	0.002230	T	0.60625	0.2283	H	0.94345	3.525	0.27452	N	0.953405	D	0.89917	1.0	D	0.97110	1.0	T	0.61884	-0.6971	9	.	.	.	.	13.721	0.62728	0.0:0.0:1.0:0.0	.	594	Q9UKF5	ADA29_HUMAN	N	594	ENSP00000352177:D594N;ENSP00000414544:D594N;ENSP00000384229:D594N;ENSP00000423517:D594N	.	D	+	1	0	ADAM29	176135031	1.000000	0.71417	0.721000	0.30653	0.201000	0.24016	6.387000	0.73191	2.351000	0.79841	0.643000	0.83706	GAT		0.418	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				12	202	0	0	0	1	0	12	202				
CCDC144NL	339184	broad.mit.edu	37	17	20799296	20799296	+	Missense_Mutation	SNP	C	C	T	rs148155806	byFrequency	TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr17:20799296C>T	ENST00000327925.5	-	1	157	c.38G>A	c.(37-39)gGg>gAg	p.G13E	RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RNU6-1178P_ENST00000516674.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000577537.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	13										large_intestine(3)|lung(3)|skin(1)	7						CGGAGACCCCCCAGCCCCTCC	0.647											OREG0024248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	t|||	2	0.000399361	0.0	0.0029	5008	,	,		15842	0.0		0.0	False		,,,				2504	0.0					ENST00000327925.5																			0				large_intestine(3)|lung(3)|skin(1)	7						c.(37-39)gGg>gAg		coiled-coil domain containing 144 family, N-terminal like		T	GLU/GLY	0,4406		0,0,2203	25.0	27.0	27.0		38	-1.7	0.0	17	dbSNP_134	27	5,8595	812.0+/-407.1	0,5,4295	no	missense	CCDC144NL	NM_001004306.1	98	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	13/222	20799296	5,13001	2203	4300	6503	SO:0001583	missense	339184							g.chr17:20799296C>T		CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.38G>A	17.37:g.20799296C>T	ENSP00000328054:p.Gly13Glu		OREG0024248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	743	RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA	p.G13E	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN			1	157	-			13						Missense_Mutation	SNP	ENST00000327925.5	37	c.38G>A	CCDS32591.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	t	0	-2.687072	0.00100	0.0	5.81E-4	ENSG00000205212	ENST00000327925	T	0.09817	2.94	0.87	-1.74	0.08056	.	.	.	.	.	T	0.01695	0.0054	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31724	-0.9933	9	0.02654	T	1	.	3.0089	0.06038	0.0:0.3807:0.2476:0.3717	.	13	Q6NUI1	C144L_HUMAN	E	13	ENSP00000328054:G13E	ENSP00000328054:G13E	G	-	2	0	CCDC144NL	20739888	0.006000	0.16342	0.000000	0.03702	0.031000	0.12232	-0.899000	0.04101	-2.094000	0.00854	-1.585000	0.00851	GGG		0.647	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306		3	8	0	0	0	1	0	3	8				
DMXL2	23312	broad.mit.edu	37	15	51773096	51773096	+	Silent	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr15:51773096G>A	ENST00000251076.5	-	24	6494	c.6207C>T	c.(6205-6207)ctC>ctT	p.L2069L	DMXL2_ENST00000449909.3_Silent_p.L1433L|DMXL2_ENST00000543779.2_Silent_p.L2069L|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2069						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTTGAAATCTGAGTTTTCCTC	0.333																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(6205-6207)ctC>ctT		Dmx-like 2							110.0	109.0	109.0					15																	51773096		2196	4293	6489	SO:0001819	synonymous_variant	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51773096G>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6207C>T	15.37:g.51773096G>A						DMXL2_ENST00000543779.2_Silent_p.L2069L|DMXL2_ENST00000449909.3_Silent_p.L1433L|RP11-707P17.1_ENST00000561007.1_RNA	p.L2069L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	24	6494	-			2069					B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	c.6207C>T	CCDS10141.1																																																																																				0.333	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		15	122	0	0	0	1	0	15	122				
SYTL5	94122	broad.mit.edu	37	X	37955445	37955445	+	Silent	SNP	T	T	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chrX:37955445T>A	ENST00000357972.5	+	9	1566	c.1020T>A	c.(1018-1020)acT>acA	p.T340T	SYTL5_ENST00000456733.2_Silent_p.T340T|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Silent_p.T340T			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	340					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CAGAGGATACTGTAAGCATAA	0.418																																						ENST00000357972.5																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(1018-1020)acT>acA		synaptotagmin-like 5							104.0	93.0	97.0					X																	37955445		2202	4300	6502	SO:0001819	synonymous_variant	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37955445T>A		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1020T>A	X.37:g.37955445T>A						TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Silent_p.T340T|SYTL5_ENST00000456733.2_Silent_p.T340T	p.T340T			Q8TDW5	SYTL5_HUMAN			9	1566	+			340					A2RRF2	Silent	SNP	ENST00000357972.5	37	c.1020T>A	CCDS14244.1																																																																																				0.418	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		30	49	0	0	0	1	0	30	49				
F9	2158	broad.mit.edu	37	X	138643737	138643737	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chrX:138643737G>A	ENST00000218099.2	+	8	900	c.893G>A	c.(892-894)cGa>cAa	p.R298Q	F9_ENST00000394090.2_Missense_Mutation_p.R260Q	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	298	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	AATGTGATTCGAATTATTCCT	0.353																																						ENST00000218099.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	GRCh37	CM940595	F9	M		c.(892-894)cGa>cAa		coagulation factor IX	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						168.0	143.0	152.0					X																	138643737		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138643737G>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.893G>A	X.37:g.138643737G>A	ENSP00000218099:p.Arg298Gln					F9_ENST00000394090.2_Missense_Mutation_p.R260Q	p.R298Q	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN			8	900	+	Acute lymphoblastic leukemia(192;0.000127)		298			Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.893G>A	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.668273	0.29604	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.93307	-3.2;-3.2	5.42	-1.27	0.09347	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.387908	0.28712	N	0.014391	D	0.83073	0.5175	N	0.12961	0.28	0.09310	N	1	B;B	0.26318	0.146;0.018	B;B	0.14023	0.01;0.002	T	0.69018	-0.5256	10	0.22706	T	0.39	.	12.1926	0.54280	0.5177:0.0:0.4823:0.0	.	260;298	Q5FBE1;P00740	.;FA9_HUMAN	Q	298;260	ENSP00000218099:R298Q;ENSP00000377650:R260Q	ENSP00000218099:R298Q	R	+	2	0	F9	138471403	0.125000	0.22332	0.036000	0.18154	0.960000	0.62799	1.054000	0.30455	-0.276000	0.09206	0.544000	0.68410	CGA		0.353	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			11	37	0	0	0	1	0	11	37				
FREM1	158326	broad.mit.edu	37	9	14813014	14813014	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr9:14813014G>A	ENST00000380880.3	-	16	3472	c.2689C>T	c.(2689-2691)Cct>Tct	p.P897S	FREM1_ENST00000422223.2_Missense_Mutation_p.P897S|FREM1_ENST00000380881.4_Missense_Mutation_p.P898S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	897					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTCATGACAGGCATGAGGTCA	0.413																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2692-2694)Cct>Tct		FRAS1 related extracellular matrix 1							137.0	128.0	131.0					9																	14813014		1968	4164	6132	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14813014G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2689C>T	9.37:g.14813014G>A	ENSP00000370262:p.Pro897Ser					FREM1_ENST00000422223.2_Missense_Mutation_p.P897S|FREM1_ENST00000380880.3_Missense_Mutation_p.P897S	p.P898S			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	17	3507	-			897					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.2692C>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	0.163	-1.079093	0.01903	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.28255	1.62;1.62;1.62	5.96	5.04	0.67666	.	0.257382	0.45361	D	0.000372	T	0.13798	0.0334	N	0.12853	0.265	0.32246	N	0.572079	B	0.24483	0.104	B	0.21708	0.036	T	0.21143	-1.0254	10	0.07990	T	0.79	-11.4976	6.8218	0.23861	0.0676:0.1288:0.6697:0.1339	.	897	Q5H8C1	FREM1_HUMAN	S	898;897;897	ENSP00000370263:P898S;ENSP00000412940:P897S;ENSP00000370262:P897S	ENSP00000370257:P900S	P	-	1	0	FREM1	14803014	1.000000	0.71417	0.553000	0.28255	0.003000	0.03518	3.565000	0.53798	1.491000	0.48482	0.655000	0.94253	CCT		0.413	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		15	112	0	0	0	1	0	15	112				
TSPYL5	85453	broad.mit.edu	37	8	98289558	98289558	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr8:98289558G>A	ENST00000322128.3	-	1	618	c.515C>T	c.(514-516)gCg>gTg	p.A172V		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	172					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CTCCCCTGCCGCCCCTTTCTT	0.652																																						ENST00000322128.3																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(514-516)gCg>gTg		TSPY-like 5							77.0	89.0	85.0					8																	98289558		2203	4300	6503	SO:0001583	missense	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98289558G>A	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.515C>T	8.37:g.98289558G>A	ENSP00000322802:p.Ala172Val						p.A172V	NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN			1	618	-	Breast(36;2.56e-06)		172					B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	37	c.515C>T	CCDS34927.1	.	.	.	.	.	.	.	.	.	.	G	9.484	1.098979	0.20552	.	.	ENSG00000180543	ENST00000322128	T	0.16743	2.32	4.03	1.25	0.21368	.	2.252930	0.02676	N	0.109077	T	0.11623	0.0283	N	0.19112	0.55	0.09310	N	1	B	0.22211	0.066	B	0.09377	0.004	T	0.24404	-1.0161	10	0.46703	T	0.11	0.6321	4.0406	0.09750	0.216:0.1971:0.5869:0.0	.	172	Q86VY4	TSYL5_HUMAN	V	172	ENSP00000322802:A172V	ENSP00000322802:A172V	A	-	2	0	TSPYL5	98358734	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.080000	0.14802	0.266000	0.21894	-0.253000	0.11424	GCG		0.652	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		6	101	0	0	0	1	0	6	101				
PTPRD	5789	broad.mit.edu	37	9	8341854	8341854	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr9:8341854C>A	ENST00000381196.4	-	37	5329	c.4786G>T	c.(4786-4788)Gtt>Ttt	p.V1596F	PTPRD_ENST00000537002.1_Missense_Mutation_p.V1186F|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1574F|PTPRD_ENST00000540109.1_Missense_Mutation_p.V1596F|PTPRD_ENST00000397611.3_Missense_Mutation_p.V1186F|PTPRD_ENST00000397617.3_Missense_Mutation_p.V1189F|PTPRD_ENST00000355233.5_Missense_Mutation_p.V1190F|PTPRD_ENST00000397606.3_Missense_Mutation_p.V1189F|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1583F|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1596F|PTPRD_ENST00000486161.1_Missense_Mutation_p.V1189F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1596	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTGTTTGAACCATATAGTTC	0.378										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(4786-4788)Gtt>Ttt		protein tyrosine phosphatase, receptor type, D							223.0	212.0	216.0					9																	8341854		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8341854C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4786G>T	9.37:g.8341854C>A	ENSP00000370593:p.Val1596Phe	TSP Lung(15;0.13)				PTPRD_ENST00000486161.1_Missense_Mutation_p.V1189F|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1574F|PTPRD_ENST00000355233.5_Missense_Mutation_p.V1190F|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1583F|PTPRD_ENST00000540109.1_Missense_Mutation_p.V1596F|PTPRD_ENST00000537002.1_Missense_Mutation_p.V1186F|PTPRD_ENST00000397606.3_Missense_Mutation_p.V1189F|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1596F|PTPRD_ENST00000397617.3_Missense_Mutation_p.V1189F|PTPRD_ENST00000397611.3_Missense_Mutation_p.V1186F	p.V1596F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	37	5329	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1596			Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4786G>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548361	0.86127	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.96629	0.8900	H	0.95224	3.64	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.993;0.993;0.993;0.993;1.0;0.987;1.0;1.0;0.999	D	0.96851	0.9625	9	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1189;1180;1189;1190;1186;1186;1583;1596;1596	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	F	1596;1596;1583;1574;1190;1189;1186;1186;1067;1596;1189;1189	ENSP00000370593:V1596F;ENSP00000348812:V1596F;ENSP00000353187:V1583F;ENSP00000351293:V1574F;ENSP00000347373:V1190F;ENSP00000380741:V1189F;ENSP00000380735:V1186F;ENSP00000440515:V1186F;ENSP00000438164:V1596F;ENSP00000417093:V1189F;ENSP00000380731:V1189F	.	V	-	1	0	PTPRD	8331854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	GTT		0.378	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			19	292	1	0	0.0383953	1	0.0383953	19	292				
BOC	91653	broad.mit.edu	37	3	112993426	112993426	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:112993426C>T	ENST00000495514.1	+	9	2143	c.1439C>T	c.(1438-1440)tCg>tTg	p.S480L	BOC_ENST00000355385.3_Missense_Mutation_p.S480L|BOC_ENST00000273395.4_Missense_Mutation_p.S480L|BOC_ENST00000497495.1_3'UTR			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	480	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			ATCCTCAGCTCGCCCCGCACC	0.662																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1438-1440)tCg>tTg		BOC cell adhesion associated, oncogene regulated							32.0	37.0	35.0					3																	112993426		2203	4298	6501	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112993426C>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1439C>T	3.37:g.112993426C>T	ENSP00000418663:p.Ser480Leu					BOC_ENST00000497495.1_3'UTR|BOC_ENST00000355385.3_Missense_Mutation_p.S480L|BOC_ENST00000273395.4_Missense_Mutation_p.S480L	p.S480L			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		9	2143	+			480			Fibronectin type-III 1.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.1439C>T	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404115	0.83230	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.26660	1.72;1.72;1.72	5.8	5.8	0.92144	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.145113	0.49305	D	0.000160	T	0.43055	0.1230	L	0.50333	1.59	0.44985	D	0.998006	D;D	0.71674	0.997;0.998	P;P	0.60415	0.8;0.874	T	0.02431	-1.1160	10	0.23302	T	0.38	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	480;480	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	L	480	ENSP00000418663:S480L;ENSP00000273395:S480L;ENSP00000347546:S480L	ENSP00000273395:S480L	S	+	2	0	BOC	114476116	0.998000	0.40836	0.966000	0.40874	0.773000	0.43773	3.789000	0.55454	2.758000	0.94735	0.563000	0.77884	TCG		0.662	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		6	80	0	0	0	1	0	6	80				
KLHL25	64410	broad.mit.edu	37	15	86312316	86312316	+	Silent	SNP	C	C	T	rs534171698		TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr15:86312316C>T	ENST00000337975.5	-	2	1000	c.726G>A	c.(724-726)ccG>ccA	p.P242P	MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000536947.1_Silent_p.P242P|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	242	BACK.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GGCAGTCGGACGGCAGCAAGG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		19196	0.0		0.0	False		,,,				2504	0.001					ENST00000337975.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(724-726)ccG>ccA		kelch-like family member 25							36.0	31.0	33.0					15																	86312316		2202	4299	6501	SO:0001819	synonymous_variant	64410					cytoplasm		g.chr15:86312316C>T		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.726G>A	15.37:g.86312316C>T						KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Silent_p.P242P	p.P242P	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN			2	1000	-			242					B2RDH2|B3KRT7	Silent	SNP	ENST00000337975.5	37	c.726G>A	CCDS10339.1																																																																																				0.652	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		5	30	0	0	0	1	0	5	30				
TREX1	11277	broad.mit.edu	37	3	48507918	48507918	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:48507918G>C	ENST00000422277.2	+	1	690	c.29G>C	c.(28-30)aGg>aCg	p.R10T	TREX1_ENST00000492235.1_Intron|TREX1_ENST00000436480.2_Intron|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000296443.9_Intron|TREX1_ENST00000433541.1_Intron|TREX1_ENST00000444177.1_Intron|TREX1_ENST00000456089.1_Intron	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	10					cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AGACAGGGCAGGATTGTGCAG	0.597																																						ENST00000422277.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9						c.(28-30)aGg>aCg		three prime repair exonuclease 1							63.0	72.0	69.0					3																	48507918		2100	4226	6326	SO:0001583	missense	11277				cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	g.chr3:48507918G>C	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"""Aicardi-Goutieres syndrome 1"""	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.29G>C	3.37:g.48507918G>C	ENSP00000390478:p.Arg10Thr					TREX1_ENST00000492235.1_Intron|TREX1_ENST00000456089.1_Intron|TREX1_ENST00000444177.1_Intron|TREX1_ENST00000433541.1_Intron|TREX1_ENST00000436480.2_Intron|TREX1_ENST00000296443.9_Intron	p.R10T	NM_016381.3	NP_057465.1	Q9NSU2	TREX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	1	690	+			10					B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Missense_Mutation	SNP	ENST00000422277.2	37	c.29G>C	CCDS43086.1	.	.	.	.	.	.	.	.	.	.	g	10.14	1.269005	0.23221	.	.	ENSG00000213689	ENST00000422277	T	0.37752	1.18	3.69	-1.99	0.07457	.	.	.	.	.	T	0.16854	0.0405	N	0.08118	0	0.18873	N	0.999989	B	0.19935	0.04	B	0.24155	0.051	T	0.26985	-1.0087	9	0.87932	D	0	.	4.377	0.11275	0.0:0.2346:0.4238:0.3416	.	10	Q9NSU2	TREX1_HUMAN	T	10	ENSP00000390478:R10T	ENSP00000390478:R10T	R	+	2	0	TREX1	48482922	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-1.234000	0.02931	-0.121000	0.11787	0.461000	0.40582	AGG		0.597	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		7	52	0	0	0	1	0	7	52				
TUFM	7284	broad.mit.edu	37	16	28854443	28854443	+	Silent	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr16:28854443C>T	ENST00000313511.3	-	10	1359	c.1221G>A	c.(1219-1221)ctG>ctA	p.L407L	MIR4721_ENST00000577590.1_RNA	NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	404					translational elongation (GO:0006414)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation elongation factor activity (GO:0003746)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						GGTTGAACTTCAGGTCCTCCC	0.537																																						ENST00000313511.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						c.(1219-1221)ctG>ctA		Tu translation elongation factor, mitochondrial							84.0	75.0	78.0					16																	28854443		2197	4300	6497	SO:0001819	synonymous_variant	7284					mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr16:28854443C>T	L38995	CCDS10642.1	16p11.2	2010-10-26			ENSG00000178952	ENSG00000178952			12420	protein-coding gene	gene with protein product		602389				9332382, 9545647	Standard	NM_003321		Approved	EFTu, EF-TuMT, EFTU	uc002drh.2	P49411	OTTHUMG00000097039	ENST00000313511.3:c.1221G>A	16.37:g.28854443C>T							p.L407L	NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN			10	1359	-			404					O15276	Silent	SNP	ENST00000313511.3	37	c.1221G>A	CCDS10642.1																																																																																				0.537	TUFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214140.1	NM_003321		8	66	0	0	0	1	0	8	66				
CAPZA2	830	broad.mit.edu	37	7	116546361	116546361	+	Silent	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr7:116546361C>T	ENST00000361183.3	+	6	610	c.471C>T	c.(469-471)tgC>tgT	p.C157C	CAPZA2_ENST00000458284.2_Intron	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	157					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			TTATTGCATGCATAGAAAGCC	0.338																																						ENST00000361183.2																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(469-471)tgC>tgT		capping protein (actin filament) muscle Z-line, alpha 2							81.0	84.0	83.0					7																	116546361		2203	4300	6503	SO:0001819	synonymous_variant	830				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex	actin binding	g.chr7:116546361C>T		CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"""F-actin capping protein alpha-2 subunit"""	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.471C>T	7.37:g.116546361C>T						CAPZA2_ENST00000458284.2_Intron	p.C157C	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)		6	610	+	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		157					B4DG50	Silent	SNP	ENST00000361183.3	37	c.471C>T	CCDS5768.1																																																																																				0.338	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059506.4	NM_006136		11	79	0	0	0	1	0	11	79				
PTGFRN	5738	broad.mit.edu	37	1	117484384	117484384	+	Nonsense_Mutation	SNP	C	C	T	rs537971311		TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:117484384C>T	ENST00000393203.2	+	2	244	c.97C>T	c.(97-99)Cga>Tga	p.R33*		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	33	Ig-like C2-type 1.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GACCCTGGTTCGAGTGGTGGG	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20052	0.0		0.0	False		,,,				2504	0.0					ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(97-99)Cga>Tga		prostaglandin F2 receptor inhibitor							73.0	71.0	72.0					1																	117484384		2203	4300	6503	SO:0001587	stop_gained	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117484384C>T	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.97C>T	1.37:g.117484384C>T	ENSP00000376899:p.Arg33*						p.R33*	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	2	244	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	33			Ig-like C2-type 1.		Q5VVU9|Q8N2K6	Nonsense_Mutation	SNP	ENST00000393203.2	37	c.97C>T	CCDS890.1	.	.	.	.	.	.	.	.	.	.	C	37	6.046831	0.97231	.	.	ENSG00000134247	ENST00000393203	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.6497	17.1689	0.86824	0.0:1.0:0.0:0.0	.	.	.	.	X	33	.	ENSP00000376899:R33X	R	+	1	2	PTGFRN	117285907	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	6.614000	0.74197	2.733000	0.93635	0.467000	0.42956	CGA		0.537	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		13	83	0	0	0	1	0	13	83				
SELENBP1	8991	broad.mit.edu	37	1	151345138	151345138	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:151345138G>C	ENST00000368868.5	-	0	71				SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000447402.3_De_novo_Start_OutOfFrame|SELENBP1_ENST00000426705.2_De_novo_Start_OutOfFrame|SELENBP1_ENST00000435071.1_De_novo_Start_OutOfFrame	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1						protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTACACTTTGATCCCGGCGG	0.577											OREG0003915	type=REGULATORY REGION|Gene=SELENBP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000435071.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20								selenium binding protein 1							110.0	98.0	102.0					1																	151345138		2203	4300	6503			8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151345138G>C	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.-21C>G	1.37:g.151345138G>C			OREG0003915	type=REGULATORY REGION|Gene=SELENBP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1739	SELENBP1_ENST00000447402.3_De_novo_Start_OutOfFrame|SELENBP1_ENST00000368868.5_De_novo_Start_OutOfFrame|SELENBP1_ENST00000426705.2_De_novo_Start_OutOfFrame|SELENBP1_ENST00000473693.1_5'UTR				Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		0	41	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)							A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Translation_Start_Site	SNP	ENST00000368868.5	37		CCDS995.1																																																																																				0.577	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			11	99	0	0	0	1	0	11	99				
CTNNB1	1499	broad.mit.edu	37	3	41274855	41274855	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:41274855C>T	ENST00000349496.5	+	8	1385	c.1105C>T	c.(1105-1107)Cac>Tac	p.H369Y	CTNNB1_ENST00000453024.1_Missense_Mutation_p.H362Y|CTNNB1_ENST00000396185.3_Missense_Mutation_p.H369Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.H369Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.H369Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	369					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TTTAGGACTTCACCTGACAGA	0.398		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(1105-1107)Cac>Tac		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						102.0	91.0	95.0					3																	41274855		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41274855C>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1105C>T	3.37:g.41274855C>T	ENSP00000344456:p.His369Tyr					CTNNB1_ENST00000396185.3_Missense_Mutation_p.H369Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.H369Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.H369Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.H362Y	p.H369Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	8	1385	+			369					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1105C>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548542	0.86127	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	5.72	5.72	0.89469	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74481	0.3722	M	0.79805	2.47	0.80722	D	1	B;P	0.38223	0.423;0.623	B;P	0.47346	0.441;0.544	T	0.70835	-0.4764	10	0.02654	T	1	-26.899	19.8737	0.96861	0.0:1.0:0.0:0.0	.	297;369	B4DSW9;P35222	.;CTNB1_HUMAN	Y	369;369;369;362;369	ENSP00000385604:H369Y;ENSP00000379486:H369Y;ENSP00000344456:H369Y;ENSP00000411226:H362Y;ENSP00000379488:H369Y	ENSP00000344456:H369Y	H	+	1	0	CTNNB1	41249859	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.687000	0.91594	0.655000	0.94253	CAC		0.398	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		7	85	0	0	0	1	0	7	85				
TMEM33	55161	broad.mit.edu	37	4	41951378	41951378	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr4:41951378C>T	ENST00000504986.1	+	6	955	c.590C>T	c.(589-591)tCg>tTg	p.S197L	TMEM33_ENST00000325094.5_Missense_Mutation_p.S197L|TMEM33_ENST00000513702.1_Missense_Mutation_p.S197L	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	197						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						CTTCGATATTCGTCTCGAAGA	0.313																																						ENST00000504986.1																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(589-591)tCg>tTg		transmembrane protein 33							122.0	126.0	125.0					4																	41951378		2203	4300	6503	SO:0001583	missense	55161					integral to membrane|melanosome	protein binding	g.chr4:41951378C>T	BC000948	CCDS3464.1	4p14	2008-02-05			ENSG00000109133	ENSG00000109133			25541	protein-coding gene	gene with protein product						12477932	Standard	NM_018126		Approved	FLJ10525	uc003gwi.2	P57088	OTTHUMG00000099381	ENST00000504986.1:c.590C>T	4.37:g.41951378C>T	ENSP00000422473:p.Ser197Leu					TMEM33_ENST00000325094.5_Missense_Mutation_p.S197L|TMEM33_ENST00000513702.1_Missense_Mutation_p.S197L	p.S197L	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN			6	955	+			197					B3KSS8|Q9H953	Missense_Mutation	SNP	ENST00000504986.1	37	c.590C>T	CCDS3464.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.17|17.17	3.321907|3.321907	0.60634|0.60634	.|.	.|.	ENSG00000109133|ENSG00000109133	ENST00000513558|ENST00000504986;ENST00000508448;ENST00000513702;ENST00000325094	.|.	.|.	.|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.052219	.|0.85682	.|D	.|0.000000	T|T	0.49898|0.49898	0.1584|0.1584	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	.|P	.|0.40144	.|0.704	.|B	.|0.29598	.|0.104	T|T	0.51379|0.51379	-0.8713|-0.8713	5|9	.|0.23891	.|T	.|0.37	-15.2221|-15.2221	18.9533|18.9533	0.92647|0.92647	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|197	.|P57088	.|TMM33_HUMAN	C|L	131|197	.|.	.|ENSP00000441455:S197L	R|S	+|+	1|2	0|0	TMEM33|TMEM33	41646135|41646135	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.627000|0.627000	0.37826|0.37826	7.270000|7.270000	0.78493|0.78493	2.473000|2.473000	0.83533|0.83533	0.591000|0.591000	0.81541|0.81541	CGT|TCG		0.313	TMEM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216834.2	NM_018126		10	83	0	0	0	1	0	10	83				
SLC7A8	23428	broad.mit.edu	37	14	23635568	23635568	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr14:23635568C>G	ENST00000316902.7	-	2	1058	c.333G>C	c.(331-333)aaG>aaC	p.K111N	SLC7A8_ENST00000469263.1_Missense_Mutation_p.K111N	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	111					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CGAAGATGTCCTTGACATAGG	0.512																																						ENST00000316902.7																			0				autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24						c.(331-333)aaG>aaC		solute carrier family 7 (amino acid transporter light chain, L system), member 8	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)						134.0	133.0	133.0					14																	23635568		2203	4300	6503	SO:0001583	missense	23428				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	g.chr14:23635568C>G	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.333G>C	14.37:g.23635568C>G	ENSP00000320378:p.Lys111Asn					SLC7A8_ENST00000469263.1_Missense_Mutation_p.K111N	p.K111N	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	2	1058	-	all_cancers(95;4.6e-05)		111					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	37	c.333G>C	CCDS9590.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467455	0.43839	.	.	ENSG00000092068	ENST00000316902;ENST00000469263	D;D	0.90788	-2.73;-2.73	5.49	4.6	0.57074	Amino acid permease domain (1);	0.045508	0.85682	D	0.000000	T	0.82111	0.4966	N	0.17312	0.475	0.80722	D	1	B;B	0.14012	0.005;0.009	B;B	0.23852	0.02;0.049	T	0.76992	-0.2753	10	0.51188	T	0.08	.	7.9638	0.30087	0.0:0.7591:0.0:0.2409	.	111;111	E9PLV9;Q9UHI5	.;LAT2_HUMAN	N	111	ENSP00000320378:K111N;ENSP00000435114:K111N	ENSP00000320378:K111N	K	-	3	2	SLC7A8	22705408	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.648000	0.24828	1.448000	0.47680	0.655000	0.94253	AAG		0.512	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			12	104	0	0	0	1	0	12	104				
OR8J3	81168	broad.mit.edu	37	11	55904917	55904917	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr11:55904917G>A	ENST00000301529.1	-	1	277	c.278C>T	c.(277-279)tCa>tTa	p.S93L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TTCATAGAATGAGGTAGTTTT	0.418																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(277-279)tCa>tTa		olfactory receptor, family 8, subfamily J, member 3							141.0	137.0	138.0					11																	55904917		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904917G>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.278C>T	11.37:g.55904917G>A	ENSP00000301529:p.Ser93Leu						p.S93L	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	277	-	Esophageal squamous(21;0.00693)		93					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.278C>T	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420487	0.25639	.	.	ENSG00000167822	ENST00000301529	T	0.00737	5.76	3.26	-0.73	0.11154	GPCR, rhodopsin-like superfamily (1);	0.735159	0.12612	N	0.453764	T	0.01765	0.0056	M	0.90309	3.105	0.09310	N	1	B	0.10296	0.003	B	0.14578	0.011	T	0.23762	-1.0179	10	0.59425	D	0.04	.	7.7418	0.28845	0.3523:0.0:0.6477:0.0	.	93	Q8NGG0	OR8J3_HUMAN	L	93	ENSP00000301529:S93L	ENSP00000301529:S93L	S	-	2	0	OR8J3	55661493	0.016000	0.18221	0.002000	0.10522	0.765000	0.43378	1.249000	0.32839	-0.483000	0.06772	0.289000	0.19496	TCA		0.418	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		9	145	0	0	0	1	0	9	145				
SAMD4B	55095	broad.mit.edu	37	19	39870669	39870669	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr19:39870669C>T	ENST00000314471.6	+	12	2629	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.R532W	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	532					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GAAGCTCCTCCGGACATTCCC	0.582																																						ENST00000314471.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15						c.(1594-1596)Cgg>Tgg		sterile alpha motif domain containing 4B							55.0	50.0	51.0					19																	39870669		2203	4300	6503	SO:0001583	missense	55095						protein binding	g.chr19:39870669C>T		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1594C>T	19.37:g.39870669C>T	ENSP00000317224:p.Arg532Trp					SAMD4B_ENST00000598913.1_Missense_Mutation_p.R532W|SAMD4B_ENST00000596368.1_Intron	p.R532W	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		12	2629	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		532					A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.1594C>T	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	C	31	5.073701	0.94000	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.76772	0.4034	M	0.65975	2.015	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.79291	-0.1864	9	0.87932	D	0	.	15.5942	0.76566	0.0:1.0:0.0:0.0	.	532;532	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	W	532	.	ENSP00000317224:R532W	R	+	1	2	SAMD4B	44562509	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.538000	0.67193	2.619000	0.88677	0.460000	0.39030	CGG		0.582	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		4	18	0	0	0	1	0	4	18				
MYH6	4624	broad.mit.edu	37	14	23874017	23874017	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr14:23874017G>A	ENST00000356287.3	-	6	574	c.545C>T	c.(544-546)gCg>gTg	p.A182V	MYH6_ENST00000405093.3_Missense_Mutation_p.A182V			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	182	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGTCTTCCCCGCCCCGGATTC	0.552																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(544-546)gCg>gTg		myosin, heavy chain 6, cardiac muscle, alpha							84.0	72.0	76.0					14																	23874017		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23874017G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.545C>T	14.37:g.23874017G>A	ENSP00000348634:p.Ala182Val					MYH6_ENST00000356287.3_Missense_Mutation_p.A182V	p.A182V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	7	615	-	all_cancers(95;2.54e-05)		182			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.545C>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	25.1	4.602222	0.87055	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.81996	-1.56;-1.56	3.31	3.31	0.37934	Myosin head, motor domain (3);	.	.	.	.	D	0.95233	0.8454	H	0.99969	5.11	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.65987	0.94;0.94	D	0.96838	0.9616	9	0.87932	D	0	.	13.6759	0.62454	0.0:0.0:1.0:0.0	.	182;182	D9YZU2;P13533	.;MYH6_HUMAN	V	182	ENSP00000386041:A182V;ENSP00000348634:A182V	ENSP00000348634:A182V	A	-	2	0	MYH6	22943857	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	9.220000	0.95180	1.848000	0.53677	0.549000	0.68633	GCG		0.552	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			10	69	0	0	0	1	0	10	69				
XIRP2	129446	broad.mit.edu	37	2	168102911	168102911	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr2:168102911A>T	ENST00000409195.1	+	9	5098	c.5009A>T	c.(5008-5010)gAa>gTa	p.E1670V	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1670V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1448V|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1495					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCTCTGAGGAAAGATCTGTA	0.313																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(5008-5010)gAa>gTa		xin actin-binding repeat containing 2							79.0	74.0	76.0					2																	168102911		1856	4086	5942	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102911A>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5009A>T	2.37:g.168102911A>T	ENSP00000386840:p.Glu1670Val					XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1670V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1448V	p.E1670V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	5098	+			1495					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.5009A>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.499889	0.44455	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03242	4.0;4.0;4.0	5.37	5.37	0.77165	.	0.222358	0.45867	D	0.000333	T	0.10766	0.0263	L	0.57536	1.79	0.41182	D	0.986247	D;D;D	0.57571	0.966;0.98;0.98	P;P;P	0.53649	0.543;0.731;0.731	T	0.00747	-1.1583	10	0.87932	D	0	-7.0429	14.3561	0.66738	1.0:0.0:0.0:0.0	.	1495;1495;1448	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	V	1670;1670;1448	ENSP00000386840:E1670V;ENSP00000295237:E1670V;ENSP00000387255:E1448V	ENSP00000295237:E1670V	E	+	2	0	XIRP2	167811157	0.995000	0.38212	0.831000	0.32960	0.782000	0.44232	5.975000	0.70475	2.041000	0.60428	0.528000	0.53228	GAA		0.313	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		5	74	0	0	0	1	0	5	74				
ARID2	196528	broad.mit.edu	37	12	46123887	46123887	+	Silent	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr12:46123887C>T	ENST00000334344.6	+	2	325	c.153C>T	c.(151-153)taC>taT	p.Y51Y	ARID2_ENST00000422737.1_5'UTR|LINC00938_ENST00000609803.1_lincRNA	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	51	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACGGTCTCTACACCAGAGTCA	0.532			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(151-153)taC>taT		AT rich interactive domain 2 (ARID, RFX-like)							85.0	86.0	85.0					12																	46123887		2203	4300	6503	SO:0001819	synonymous_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46123887C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.153C>T	12.37:g.46123887C>T						ARID2_ENST00000422737.1_5'UTR	p.Y51Y	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	2	325	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	51			ARID.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	c.153C>T	CCDS31783.1																																																																																				0.532	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		10	73	0	0	0	1	0	10	73				
PDZD2	23037	broad.mit.edu	37	5	31983706	31983706	+	Missense_Mutation	SNP	C	C	T	rs368272828		TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr5:31983706C>T	ENST00000438447.1	+	3	1310	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	PDZD2_ENST00000282493.3_Missense_Mutation_p.R308C			O15018	PDZD2_HUMAN	PDZ domain containing 2	308					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAATGACAAACGCCGCTTCTC	0.493																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(922-924)Cgc>Tgc		PDZ domain containing 2		C	CYS/ARG	0,4406		0,0,2203	97.0	102.0	100.0		922	0.7	1.0	5		100	1,8597	1.2+/-3.3	0,1,4298	no	missense	PDZD2	NM_178140.2	180	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	308/2840	31983706	1,13003	2203	4299	6502	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31983706C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.922C>T	5.37:g.31983706C>T	ENSP00000402033:p.Arg308Cys					PDZD2_ENST00000282493.3_Missense_Mutation_p.R308C	p.R308C			O15018	PDZD2_HUMAN			3	1310	+			308					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.922C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281999	0.40394	0.0	1.16E-4	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07908	3.15;3.15	5.68	0.671	0.17929	PDZ/DHR/GLGF (1);	0.511250	0.16985	N	0.191521	T	0.05181	0.0138	L	0.29908	0.895	0.36498	D	0.868821	B;B	0.26041	0.071;0.14	B;B	0.16289	0.005;0.015	T	0.31420	-0.9944	10	0.49607	T	0.09	.	4.5476	0.12088	0.0:0.5001:0.1547:0.3452	.	134;308	B4E3P2;O15018	.;PDZD2_HUMAN	C	308	ENSP00000402033:R308C;ENSP00000282493:R308C	ENSP00000282493:R308C	R	+	1	0	PDZD2	32019463	0.051000	0.20477	0.979000	0.43373	0.992000	0.81027	0.206000	0.17375	0.350000	0.24002	-0.142000	0.14014	CGC		0.493	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			36	88	0	0	0	1	0	36	88				
TCHH	7062	broad.mit.edu	37	1	152083634	152083634	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:152083634C>G	ENST00000368804.1	-	2	2058	c.2059G>C	c.(2059-2061)Gag>Cag	p.E687Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	687					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTCCTCCTCAGCTAGCTCC	0.637																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(2059-2061)Gag>Cag		trichohyalin							52.0	61.0	58.0					1																	152083634		2051	4188	6239	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083634C>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2059G>C	1.37:g.152083634C>G	ENSP00000357794:p.Glu687Gln						p.E687Q	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2058	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		687					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.2059G>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	14.81	2.645297	0.47258	.	.	ENSG00000159450	ENST00000368804	T	0.06218	3.33	5.16	2.09	0.27110	.	.	.	.	.	T	0.01387	0.0045	N	0.24115	0.695	0.22771	N	0.99876	P	0.47350	0.894	B	0.43950	0.437	T	0.31888	-0.9927	9	0.09084	T	0.74	.	6.2665	0.20930	0.0:0.6666:0.1558:0.1776	.	687	Q07283	TRHY_HUMAN	Q	687	ENSP00000357794:E687Q	ENSP00000357794:E687Q	E	-	1	0	TCHH	150350258	0.000000	0.05858	0.026000	0.17262	0.530000	0.34684	0.037000	0.13840	1.169000	0.42739	0.457000	0.33378	GAG		0.637	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		15	120	0	0	0	1	0	15	120				
PALM2	114299	broad.mit.edu	37	9	112705583	112705583	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr9:112705583G>A	ENST00000374531.2	+	7	1092	c.1018G>A	c.(1018-1020)Ggg>Agg	p.G340R	PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.G372R|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000448454.2_Missense_Mutation_p.G374R|AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.G338R	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	340					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						GCTTGTGTCCGGGAGGCCGGT	0.547																																						ENST00000448454.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						c.(1120-1122)Ggg>Agg		paralemmin 2							123.0	122.0	122.0					9																	112705583		2203	4300	6503	SO:0001583	missense	114299							g.chr9:112705583G>A	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.1018G>A	9.37:g.112705583G>A	ENSP00000363656:p.Gly340Arg					AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.G338R|PALM2_ENST00000314527.4_Missense_Mutation_p.G372R|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000374531.2_Missense_Mutation_p.G340R|PALM2-AKAP2_ENST00000374530.3_Intron	p.G374R							8	1120	+								A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	37	c.1120G>A	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998028	0.74818	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000413420	T;T;T;T;T	0.33654	1.68;1.74;1.66;1.74;1.4	5.86	5.86	0.93980	.	.	.	.	.	T	0.61464	0.2349	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61441	-0.7062	9	0.72032	D	0.01	.	19.1868	0.93647	0.0:0.0:1.0:0.0	.	340;374	Q8IXS6;D3YTA4	PALM2_HUMAN;.	R	340;374;338;372;372	ENSP00000363656:G340R;ENSP00000400206:G374R;ENSP00000417525:G338R;ENSP00000323805:G372R;ENSP00000397839:G372R	ENSP00000397839:G372R	G	+	1	0	PALM2-AKAP2;PALM2	111745404	1.000000	0.71417	0.983000	0.44433	0.816000	0.46133	9.476000	0.97823	2.781000	0.95711	0.650000	0.86243	GGG		0.547	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		7	91	0	0	0	1	0	7	91				
ZFP90	146198	broad.mit.edu	37	16	68598113	68598113	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr16:68598113G>C	ENST00000570495.1	+	5	1715	c.1423G>C	c.(1423-1425)Gag>Cag	p.E475Q	ZFP90_ENST00000398253.2_Missense_Mutation_p.E475Q|ZFP90_ENST00000563169.2_Missense_Mutation_p.E475Q			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	475					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CCATACTGCAGAGAACCCCTA	0.418																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1423-1425)Gag>Cag		ZFP90 zinc finger protein							117.0	114.0	115.0					16																	68598113		2026	4217	6243	SO:0001583	missense	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598113G>C	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1423G>C	16.37:g.68598113G>C	ENSP00000460547:p.Glu475Gln					RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Missense_Mutation_p.E475Q|ZFP90_ENST00000398253.2_Missense_Mutation_p.E475Q	p.E475Q			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	1715	+		Ovarian(137;0.192)	475					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	c.1423G>C	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760619	0.31137	.	.	ENSG00000184939	ENST00000398253	T	0.20200	2.09	4.87	2.87	0.33458	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30916	0.0780	M	0.82517	2.595	0.28743	N	0.901849	B	0.15719	0.014	B	0.17433	0.018	T	0.29971	-0.9994	9	0.72032	D	0.01	-6.7662	13.2859	0.60243	0.0:0.3224:0.6776:0.0	.	475	Q8TF47	ZFP90_HUMAN	Q	475	ENSP00000381304:E475Q	ENSP00000381304:E475Q	E	+	1	0	ZFP90	67155614	0.999000	0.42202	0.448000	0.26945	0.946000	0.59487	3.595000	0.54016	0.729000	0.32403	0.655000	0.94253	GAG		0.418	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		10	140	0	0	0	1	0	10	140				
SLC35A4	113829	broad.mit.edu	37	5	139947502	139947502	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr5:139947502T>G	ENST00000514199.1	+	2	2434	c.748T>G	c.(748-750)Tca>Gca	p.S250A	SLC35A4_ENST00000323146.3_Missense_Mutation_p.S250A|APBB3_ENST00000507279.1_Intron			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	250	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGGTTTCTCAGGATGGGC	0.562																																						ENST00000514199.1																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(748-750)Tca>Gca		solute carrier family 35, member A4							55.0	57.0	56.0					5																	139947502		2203	4300	6503	SO:0001583	missense	113829					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity	g.chr5:139947502T>G	AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"""Solute carriers"""	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.748T>G	5.37:g.139947502T>G	ENSP00000424566:p.Ser250Ala					SLC35A4_ENST00000323146.3_Missense_Mutation_p.S250A|APBB3_ENST00000507279.1_Intron	p.S250A			Q96G79	S35A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	2434	+			250			Leu-rich.		A8K013	Missense_Mutation	SNP	ENST00000514199.1	37	c.748T>G	CCDS4231.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.60|18.60	3.659100|3.659100	0.67586|0.67586	.|.	.|.	ENSG00000176087|ENSG00000176087	ENST00000432254|ENST00000323146;ENST00000514199	.|T;T	.|0.44083	.|0.93;0.93	5.05|5.05	3.9|3.9	0.45041|0.45041	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.58163|0.58163	0.2103|0.2103	M|M	0.76170|0.76170	2.325|2.325	0.50467|0.50467	D|D	0.999872|0.999872	.|D	.|0.60575	.|0.988	.|P	.|0.62298	.|0.9	T|T	0.58662|0.58662	-0.7597|-0.7597	5|9	.|.	.|.	.|.	-5.9782|-5.9782	10.2371|10.2371	0.43290|0.43290	0.0:0.0785:0.0:0.9215|0.0:0.0785:0.0:0.9215	.|.	.|250	.|Q96G79	.|S35A4_HUMAN	R|A	70|250	.|ENSP00000327133:S250A;ENSP00000424566:S250A	.|.	L|S	+|+	2|1	0|0	SLC35A4|SLC35A4	139927686|139927686	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	7.522000|7.522000	0.81844|0.81844	0.947000|0.947000	0.37659|0.37659	0.459000|0.459000	0.35465|0.35465	CTC|TCA		0.562	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	NM_080670		8	65	0	0	0	1	0	8	65				
PCDHA13	56136	broad.mit.edu	37	5	140262058	140262058	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr5:140262058A>G	ENST00000289272.2	+	1	205	c.205A>G	c.(205-207)Aaa>Gaa	p.K69E	PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.K69E|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	69	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCGTCCAAAAGACACGG	0.627																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(205-207)Aaa>Gaa									52.0	62.0	59.0					5																	140262058		2200	4276	6476	SO:0001583	missense	56136							g.chr5:140262058A>G	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.205A>G	5.37:g.140262058A>G	ENSP00000289272:p.Lys69Glu					PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.K69E|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron	p.K69E	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	205	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.205A>G	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	A	7.085	0.571059	0.13623	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.36699	1.24;1.24	5.54	3.03	0.35002	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.20495	0.0493	L	0.37697	1.125	0.20074	N	0.999931	P;B;B	0.40660	0.726;0.153;0.426	B;B;B	0.34779	0.142;0.189;0.087	T	0.11518	-1.0584	9	0.28530	T	0.3	.	1.2131	0.01908	0.456:0.2485:0.1613:0.1342	.	69;69;69	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	E	69	ENSP00000386821:K69E;ENSP00000289272:K69E	ENSP00000289272:K69E	K	+	1	0	PCDHA13	140242242	0.000000	0.05858	0.870000	0.34147	0.276000	0.26787	0.290000	0.18975	0.953000	0.37825	0.454000	0.30748	AAA		0.627	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		13	198	0	0	0	1	0	13	198				
CD97	976	broad.mit.edu	37	19	14501807	14501807	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr19:14501807A>T	ENST00000242786.5	+	4	342	c.262A>T	c.(262-264)Agc>Tgc	p.S88C	CD97_ENST00000357355.3_Missense_Mutation_p.S88C|CD97_ENST00000358600.3_Missense_Mutation_p.S88C|CD97_ENST00000587728.1_3'UTR	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	88	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CACAGAGGGGAGCTACGACTG	0.527																																						ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(262-264)Agc>Tgc		CD97 molecule							149.0	117.0	128.0					19																	14501807		2203	4300	6503	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14501807A>T		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.262A>T	19.37:g.14501807A>T	ENSP00000242786:p.Ser88Cys					CD97_ENST00000587728.1_3'UTR|CD97_ENST00000358600.3_Missense_Mutation_p.S88C|CD97_ENST00000357355.3_Missense_Mutation_p.S88C	p.S88C	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			4	342	+			88			EGF-like 2; calcium-binding (Potential).		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.262A>T	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.330417	0.60743	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	D;D;D	0.95377	-3.69;-3.69;-3.69	4.39	0.988	0.19796	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.98009	0.9344	H	0.97415	4	0.35587	D	0.806779	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.74023	0.945;0.982;0.975	D	0.96452	0.9335	9	0.72032	D	0.01	.	6.1736	0.20431	0.6429:0.0:0.3571:0.0	.	88;88;88	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	C	88;88;88;87	ENSP00000242786:S88C;ENSP00000349918:S88C;ENSP00000351413:S88C	ENSP00000242786:S88C	S	+	1	0	CD97	14362807	0.999000	0.42202	0.554000	0.28268	0.028000	0.11728	1.046000	0.30354	-0.049000	0.13379	0.460000	0.39030	AGC		0.527	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		9	69	0	0	0	1	0	9	69				
NDUFB8	4714	broad.mit.edu	37	10	102289582	102289582	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr10:102289582C>G	ENST00000299166.4	-	1	39	c.27G>C	c.(25-27)ttG>ttC	p.L9F	NDUFB8_ENST00000370320.4_Missense_Mutation_p.L9F|SEC31B_ENST00000535773.1_5'UTR|NDUFB8_ENST00000370322.1_Intron|NDUFB8_ENST00000531258.1_Missense_Mutation_p.L9F|NDUFB8_ENST00000557395.1_Missense_Mutation_p.L9F	NM_005004.2	NP_004995.1	O95169	NDUB8_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa	9					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(2)|lung(2)	4		Colorectal(252;0.234)		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)		ACTGGACTCCCAAGACCCCGG	0.652																																						ENST00000531258.1																			0				endometrium(2)|lung(2)	4						c.(25-27)ttG>ttC		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa	NADH(DB00157)						35.0	39.0	38.0					10																	102289582		2203	4300	6503	SO:0001583	missense	4714				mitochondrial electron transport, NADH to ubiquinone|transport	endoplasmic reticulum|integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr10:102289582C>G	AF044958	CCDS7497.1, CCDS65916.1, CCDS65917.1	10q24.31	2011-07-04	2002-08-29		ENSG00000166136	ENSG00000166136		"""Mitochondrial respiratory chain complex / Complex I"""	7703	protein-coding gene	gene with protein product	"""complex I ASHI subunit"""	602140	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8 (19kD, ASHI)"""			9763676	Standard	NM_001284368		Approved	ASHI, CI-ASHI	uc001kri.1	O95169	OTTHUMG00000019346	ENST00000299166.4:c.27G>C	10.37:g.102289582C>G	ENSP00000299166:p.Leu9Phe					NDUFB8_ENST00000370320.4_Missense_Mutation_p.L9F|NDUFB8_ENST00000370322.1_Intron|SEC31B_ENST00000535773.1_5'UTR|NDUFB8_ENST00000557395.1_Missense_Mutation_p.L9F|NDUFB8_ENST00000299166.4_Missense_Mutation_p.L9F	p.L9F			O95169	NDUB8_HUMAN		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)	1	56	-		Colorectal(252;0.234)	9					A8K0L4|Q5W143|Q5W144|Q5W145|Q9UG53|Q9UJR4|Q9UQF3	Missense_Mutation	SNP	ENST00000299166.4	37	c.27G>C	CCDS7497.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638987	0.29157	.	.	ENSG00000166136	ENST00000531258;ENST00000299166;ENST00000370320	.	.	.	5.04	5.04	0.67666	.	0.623927	0.13744	N	0.365766	T	0.42787	0.1218	N	0.21097	0.63	0.80722	D	1	B	0.13145	0.007	B	0.14578	0.011	T	0.21245	-1.0251	9	0.08837	T	0.75	-19.9775	15.2417	0.73476	0.0:1.0:0.0:0.0	.	9	O95169	NDUB8_HUMAN	F	9	.	ENSP00000299166:L9F	L	-	3	2	NDUFB8	102279572	0.226000	0.23696	1.000000	0.80357	0.054000	0.15201	0.681000	0.25320	2.621000	0.88768	0.462000	0.41574	TTG		0.652	NDUFB8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051225.1	NM_005004		3	29	0	0	0	1	0	3	29				
TAF1L	138474	broad.mit.edu	37	9	32630547	32630547	+	Silent	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr9:32630547C>T	ENST00000242310.4	-	1	5120	c.5031G>A	c.(5029-5031)acG>acA	p.T1677T	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1677					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CATCTCGAGACGTACTGAGGG	0.488																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(5029-5031)acG>acA		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							214.0	196.0	202.0					9																	32630547		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32630547C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.5031G>A	9.37:g.32630547C>T							p.T1677T	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	5120	-			1677					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.5031G>A	CCDS35003.1																																																																																				0.488	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			18	197	0	0	0	1	0	18	197				
CWH43	80157	broad.mit.edu	37	4	49009244	49009244	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr4:49009244A>G	ENST00000226432.4	+	8	1270	c.1087A>G	c.(1087-1089)Aat>Gat	p.N363D	CWH43_ENST00000513409.1_Missense_Mutation_p.N336D	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	363					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TATCGGGCTGAATATGCTATT	0.333																																						ENST00000226432.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(1087-1089)Aat>Gat		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							102.0	104.0	103.0					4																	49009244		2203	4299	6502	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49009244A>G		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1087A>G	4.37:g.49009244A>G	ENSP00000226432:p.Asn363Asp					CWH43_ENST00000513409.1_Missense_Mutation_p.N336D	p.N363D	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN			8	1270	+			363					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.1087A>G	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	A	6.348	0.432294	0.12045	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.41758	1.57;0.99	4.65	2.31	0.28768	.	0.441981	0.21484	N	0.073790	T	0.21841	0.0526	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13683	-1.0500	9	.	.	.	.	6.4066	0.21668	0.735:0.0:0.265:0.0	.	363	Q9H720	PG2IP_HUMAN	D	363;336	ENSP00000226432:N363D;ENSP00000422802:N336D	.	N	+	1	0	CWH43	48704001	0.067000	0.21026	0.970000	0.41538	0.093000	0.18481	1.789000	0.38724	0.926000	0.37118	0.528000	0.53228	AAT		0.333	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		4	36	0	0	0	1	0	4	36				
MROH2B	133558	broad.mit.edu	37	5	41065521	41065521	+	Silent	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr5:41065521C>T	ENST00000399564.4	-	4	723	c.273G>A	c.(271-273)gtG>gtA	p.V91V		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	91																	CTTCATACATCACAGAGTTGA	0.423																																						ENST00000399564.4																			0											c.(271-273)gtG>gtA		maestro heat-like repeat family member 2B							91.0	85.0	87.0					5																	41065521		1927	4141	6068	SO:0001819	synonymous_variant	133558							g.chr5:41065521C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.273G>A	5.37:g.41065521C>T							p.V91V	NM_173489.4	NP_775760.3					4	723	-								Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.273G>A	CCDS47202.1																																																																																				0.423	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		14	41	0	0	0	1	0	14	41				
SLITRK5	26050	broad.mit.edu	37	13	88329213	88329213	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr13:88329213G>A	ENST00000325089.6	+	2	1789	c.1570G>A	c.(1570-1572)Gtc>Atc	p.V524I	SLITRK5_ENST00000400028.3_Missense_Mutation_p.V283I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	524					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCCCTCAGGCGTCTTCTCTGG	0.527																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1570-1572)Gtc>Atc		SLIT and NTRK-like family, member 5							69.0	71.0	70.0					13																	88329213		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329213G>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1570G>A	13.37:g.88329213G>A	ENSP00000366283:p.Val524Ile					SLITRK5_ENST00000400028.3_Missense_Mutation_p.V283I	p.V524I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1789	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		524					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1570G>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.427210	0.01117	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.57595	0.39;0.39	5.23	2.1	0.27182	.	0.277370	0.33813	N	0.004523	T	0.31420	0.0796	N	0.20483	0.58	0.29567	N	0.850182	B;B	0.13145	0.007;0.003	B;B	0.15052	0.009;0.012	T	0.16247	-1.0409	9	.	.	.	-10.3674	7.5665	0.27881	0.383:0.0:0.617:0.0	.	283;524	B4DSH5;O94991	.;SLIK5_HUMAN	I	524;283	ENSP00000366283:V524I;ENSP00000442244:V283I	.	V	+	1	0	SLITRK5	87127214	0.995000	0.38212	0.986000	0.45419	0.944000	0.59088	2.828000	0.48120	0.595000	0.29777	0.561000	0.74099	GTC		0.527	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			9	98	0	0	0	1	0	9	98				
POLQ	10721	broad.mit.edu	37	3	121208192	121208192	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:121208192G>C	ENST00000264233.5	-	16	3714	c.3586C>G	c.(3586-3588)Ctg>Gtg	p.L1196V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1196					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGCTTTCGCAGGTACTGGTTA	0.348								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3586-3588)Ctg>Gtg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							218.0	223.0	221.0					3																	121208192		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208192G>C	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3586C>G	3.37:g.121208192G>C	ENSP00000264233:p.Leu1196Val						p.L1196V	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	3714	-			1196					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.3586C>G	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	0.279	-0.987799	0.02162	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.49720	0.77	5.45	1.1	0.20463	.	1.718400	0.03259	N	0.182974	T	0.31949	0.0813	L	0.27053	0.805	0.09310	N	1	B;P	0.35272	0.181;0.493	B;B	0.32289	0.028;0.143	T	0.12915	-1.0529	10	0.31617	T	0.26	.	3.0071	0.06032	0.0993:0.1445:0.4577:0.2984	.	1196;368	O75417;O75417-2	DPOLQ_HUMAN;.	V	819;1196;1332	ENSP00000264233:L1196V	ENSP00000264233:L1196V	L	-	1	2	POLQ	122690882	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.221000	0.09202	0.005000	0.14708	0.563000	0.77884	CTG		0.348	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		14	360	0	0	0	1	0	14	360				
ARMC8	25852	broad.mit.edu	37	3	137940804	137940804	+	Silent	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:137940804G>A	ENST00000469044.1	+	3	430	c.159G>A	c.(157-159)caG>caA	p.Q53Q	ARMC8_ENST00000485396.1_Silent_p.Q11Q|ARMC8_ENST00000538260.1_Silent_p.Q53Q|ARMC8_ENST00000481646.1_Silent_p.Q39Q|ARMC8_ENST00000491704.1_Silent_p.Q11Q|ARMC8_ENST00000461822.1_Silent_p.Q53Q|ARMC8_ENST00000470821.1_Silent_p.Q53Q|ARMC8_ENST00000393058.3_Silent_p.Q43Q|ARMC8_ENST00000471453.1_Silent_p.Q39Q|ARMC8_ENST00000358441.2_Silent_p.Q39Q|ARMC8_ENST00000489213.1_Silent_p.Q11Q	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	53										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ACAACAAGCAGAAAGCCAATC	0.353																																						ENST00000469044.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.(157-159)caG>caA		armadillo repeat containing 8							176.0	155.0	162.0					3																	137940804		2203	4300	6503	SO:0001819	synonymous_variant	25852						binding	g.chr3:137940804G>A		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.159G>A	3.37:g.137940804G>A						ARMC8_ENST00000461822.1_Silent_p.Q53Q|ARMC8_ENST00000393058.3_Silent_p.Q43Q|ARMC8_ENST00000485396.1_Silent_p.Q11Q|ARMC8_ENST00000538260.1_Silent_p.Q53Q|ARMC8_ENST00000471453.1_Silent_p.Q39Q|ARMC8_ENST00000491704.1_Silent_p.Q11Q|ARMC8_ENST00000489213.1_Silent_p.Q11Q|ARMC8_ENST00000470821.1_Silent_p.Q53Q|ARMC8_ENST00000358441.2_Silent_p.Q39Q|ARMC8_ENST00000481646.1_Silent_p.Q39Q	p.Q53Q	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN			3	430	+			53					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Silent	SNP	ENST00000469044.1	37	c.159G>A		.	.	.	.	.	.	.	.	.	.	G	16.67	3.187786	0.57909	.	.	ENSG00000114098	ENST00000463485	.	.	.	5.84	2.97	0.34412	.	.	.	.	.	T	0.59715	0.2214	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59810	-0.7384	5	0.49607	T	0.09	-6.6796	6.7668	0.23571	0.1556:0.0:0.6998:0.1446	.	.	.	.	K	28	.	ENSP00000417403:E28K	E	+	1	0	ARMC8	139423494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.166000	0.50785	1.488000	0.48433	0.591000	0.81541	GAA		0.353	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		6	136	0	0	0	1	0	6	136				
COIL	8161	broad.mit.edu	37	17	55027263	55027263	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr17:55027263G>C	ENST00000240316.4	-	2	1374	c.1340C>G	c.(1339-1341)tCt>tGt	p.S447C		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	447	2 X 4 AA repeats of S-L-P-A.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					GATAATAGTAGATGAATTTTT	0.408																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(1339-1341)tCt>tGt		coilin							83.0	91.0	88.0					17																	55027263		2201	4300	6501	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55027263G>C	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.1340C>G	17.37:g.55027263G>C	ENSP00000240316:p.Ser447Cys						p.S447C	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			2	1374	-	Breast(9;6.15e-08)		447			2 X 4 AA repeats of S-L-P-A.		B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.1340C>G	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953671	0.53293	.	.	ENSG00000121058	ENST00000240316	.	.	.	6.04	6.04	0.98038	.	0.250497	0.41294	D	0.000910	T	0.77818	0.4187	M	0.72894	2.215	0.51482	D	0.999922	D	0.89917	1.0	D	0.87578	0.998	T	0.79004	-0.1980	9	0.87932	D	0	-16.0009	13.9527	0.64129	0.0714:0.0:0.9286:0.0	.	447	P38432	COIL_HUMAN	C	447	.	ENSP00000240316:S447C	S	-	2	0	COIL	52382262	0.998000	0.40836	0.958000	0.39756	0.545000	0.35147	3.958000	0.56737	2.873000	0.98535	0.563000	0.77884	TCT		0.408	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			15	90	0	0	0	1	0	15	90				
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18907	0.0		0.0	False		,,,				2504	0.0					ENST00000355349.3																			3	Substitution - coding silent(3)	p.S1335S(3)	central_nervous_system(2)|lung(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4003-4005)tcG>tcA		myosin, heavy chain 7, cardiac muscle, beta		C		9,4397	15.5+/-35.6	0,9,2194	35.0	34.0	34.0		4005	-9.9	0.2	14	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous	MYH7	NM_000257.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		1335/1936	23887583	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887583C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4005G>A	14.37:g.23887583C>T							p.S1335S	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4167	-	all_cancers(95;2.54e-05)		1335					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4005G>A	CCDS9601.1																																																																																				0.662	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		4	53	0	0	0	1	0	4	53				
PKHD1	5314	broad.mit.edu	37	6	51524139	51524139	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr6:51524139G>C	ENST00000371117.3	-	61	11060	c.10785C>G	c.(10783-10785)atC>atG	p.I3595M		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3595					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAATAAACCTGATTTGGTTTT	0.428																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(10783-10785)atC>atG		polycystic kidney and hepatic disease 1 (autosomal recessive)							106.0	108.0	107.0					6																	51524139		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51524139G>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10785C>G	6.37:g.51524139G>C	ENSP00000360158:p.Ile3595Met						p.I3595M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			61	11060	-	Lung NSC(77;0.0605)		3595					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.10785C>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532606	0.27387	.	.	ENSG00000170927	ENST00000371117	D	0.92858	-3.12	5.92	-0.604	0.11626	.	0.168986	0.41823	D	0.000811	D	0.88876	0.6556	M	0.64997	1.995	0.58432	D	0.999999	D	0.60160	0.987	P	0.56916	0.809	D	0.86026	0.1510	10	0.87932	D	0	.	4.8494	0.13530	0.3876:0.0:0.3963:0.2161	.	3595	P08F94	PKHD1_HUMAN	M	3595	ENSP00000360158:I3595M	ENSP00000360158:I3595M	I	-	3	3	PKHD1	51632098	0.957000	0.32711	0.675000	0.29917	0.085000	0.17905	0.335000	0.19806	-0.130000	0.11599	-0.188000	0.12872	ATC		0.428	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		7	153	0	0	0	1	0	7	153				
PXDNL	137902	broad.mit.edu	37	8	52387662	52387662	+	Silent	SNP	C	C	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr8:52387662C>A	ENST00000356297.4	-	7	664	c.564G>T	c.(562-564)ctG>ctT	p.L188L	PXDNL_ENST00000543296.1_Silent_p.L188L	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	188	LRRCT.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.L188L(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCAGCCACATCAGATCACAGT	0.517																																						ENST00000356297.4																			1	Substitution - coding silent(1)	p.L188L(1)	lung(1)	NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(562-564)ctG>ctT		peroxidasin homolog (Drosophila)-like							49.0	51.0	50.0					8																	52387662		1910	4144	6054	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52387662C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.564G>T	8.37:g.52387662C>A						PXDNL_ENST00000543296.1_Silent_p.L188L	p.L188L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			7	664	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	188			LRRCT.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.564G>T	CCDS47855.1																																																																																				0.517	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		4	34	1	0	0.000602214	1	0.000610879	4	34				
CFAP44	55779	broad.mit.edu	37	3	113084971	113084971	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:113084971C>T	ENST00000295868.2	-	19	2792	c.2630G>A	c.(2629-2631)gGa>gAa	p.G877E	WDR52_ENST00000393845.2_Missense_Mutation_p.G877E	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GCCATCTGCTCCAGCAGTCAC	0.353																																						ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(2629-2631)gGa>gAa		WD repeat domain 52							95.0	97.0	97.0					3																	113084971		2203	4300	6503	SO:0001583	missense	55779							g.chr3:113084971C>T																												ENST00000295868.2:c.2630G>A	3.37:g.113084971C>T	ENSP00000295868:p.Gly877Glu					WDR52_ENST00000295868.2_Missense_Mutation_p.G877E	p.G877E	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			19	2696	-			877						Missense_Mutation	SNP	ENST00000295868.2	37	c.2630G>A	CCDS2972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.93|15.93	2.978722|2.978722	0.53720|0.53720	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000393845;ENST00000295868|ENST00000465636	T;T|.	0.20598|.	2.06;2.06|.	5.59|5.59	5.59|5.59	0.84812|0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	4.669030|.	0.01034|.	U|.	0.004189|.	T|.	0.79323|.	0.4426|.	M|M	0.83012|0.83012	2.62|2.62	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|.	0.79952|.	-0.1586|.	10|.	0.87932|.	D|.	0|.	-1.5663|-1.5663	17.733|17.733	0.88384|0.88384	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	877;877|.	Q96MT7;Q96MT7-2|.	WDR52_HUMAN;.|.	E|X	877|13	ENSP00000377428:G877E;ENSP00000295868:G877E|.	ENSP00000295868:G877E|.	G|W	-|-	2|3	0|0	WDR52|WDR52	114567661|114567661	1.000000|1.000000	0.71417|0.71417	0.565000|0.565000	0.28409|0.28409	0.043000|0.043000	0.13939|0.13939	5.523000|5.523000	0.67099|0.67099	2.793000|2.793000	0.96121|0.96121	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.353	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			9	157	0	0	0	1	0	9	157				
SCN1A	6323	broad.mit.edu	37	2	166850813	166850813	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr2:166850813C>G	ENST00000303395.4	-	25	4694	c.4695G>C	c.(4693-4695)caG>caC	p.Q1565H	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.Q1537H|SCN1A_ENST00000375405.3_Missense_Mutation_p.Q1554H|SCN1A_ENST00000423058.2_Missense_Mutation_p.Q1565H|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1565					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATATTCACTCTGGTCATCTG	0.393																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(4693-4695)caG>caC		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						148.0	120.0	130.0					2																	166850813		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166850813C>G	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4695G>C	2.37:g.166850813C>G	ENSP00000303540:p.Gln1565His					AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.Q1565H|SCN1A_ENST00000409050.1_Missense_Mutation_p.Q1537H|SCN1A_ENST00000375405.3_Missense_Mutation_p.Q1554H	p.Q1565H	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			25	4712	-			1565					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4695G>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495884	0.64186	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45	5.9	2.14	0.27477	.	0.000000	0.64402	D	0.000001	D	0.98588	0.9528	H	0.94222	3.51	0.45261	D	0.998265	D	0.89917	1.0	D	0.83275	0.996	D	0.98387	1.0561	10	0.87932	D	0	.	10.2358	0.43282	0.0:0.6778:0.0:0.3222	.	1554	P35498-2	.	H	1565;1565;1554;1537	ENSP00000407030:Q1565H;ENSP00000303540:Q1565H;ENSP00000364554:Q1554H;ENSP00000386312:Q1537H	ENSP00000303540:Q1565H	Q	-	3	2	SCN1A	166559059	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	0.423000	0.21313	0.417000	0.25871	0.650000	0.86243	CAG		0.393	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		10	83	0	0	0	1	0	10	83				
GJC3	349149	broad.mit.edu	37	7	99527091	99527091	+	Silent	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr7:99527091G>A	ENST00000312891.2	-	1	152	c.153C>T	c.(151-153)ttC>ttT	p.F51F	RP4-604G5.1_ENST00000456499.1_RNA	NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	51					cell communication (GO:0007154)|myelination (GO:0042552)|sensory perception of sound (GO:0007605)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGTGACACACGAATTCACTCT	0.637																																						ENST00000312891.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(151-153)ttC>ttT		gap junction protein, gamma 3, 30.2kDa							54.0	53.0	54.0					7																	99527091		2203	4300	6503	SO:0001819	synonymous_variant	349149					connexon complex|integral to membrane		g.chr7:99527091G>A	AF503615	CCDS34697.1	7q22.1	2008-09-04	2007-11-06	2007-11-06	ENSG00000176402	ENSG00000176402		"""Ion channels / Gap junction proteins (connexins)"""	17495	protein-coding gene	gene with protein product	"""connexin 30.2"""	611925	"""gap junction protein, epsilon 1, 29kDa"""	GJE1			Standard	NM_181538		Approved	CX30.2	uc011kjd.2	Q8NFK1	OTTHUMG00000156649	ENST00000312891.2:c.153C>T	7.37:g.99527091G>A						RP4-604G5.1_ENST00000456499.1_RNA	p.F51F	NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN			1	152	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		51					A4D296|Q86XI9	Silent	SNP	ENST00000312891.2	37	c.153C>T	CCDS34697.1																																																																																				0.637	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345052.1	NM_181538		7	87	0	0	0	1	0	7	87				
CHSY3	337876	broad.mit.edu	37	5	129521409	129521409	+	Silent	SNP	C	C	T	rs148231534		TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr5:129521409C>T	ENST00000305031.4	+	3	2932	c.2574C>T	c.(2572-2574)ttC>ttT	p.F858F		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	858					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAAGTACTTTCGCCTCAACCA	0.443																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(2572-2574)ttC>ttT		chondroitin sulfate synthase 3		C		1,4405	2.1+/-5.4	0,1,2202	77.0	74.0	75.0		2574	2.8	1.0	5	dbSNP_134	75	0,8600		0,0,4300	no	coding-synonymous	CHSY3	NM_175856.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		858/883	129521409	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129521409C>T	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2574C>T	5.37:g.129521409C>T							p.F858F	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	2932	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	858					B2RP97|Q76L22|Q86Y52	Silent	SNP	ENST00000305031.4	37	c.2574C>T	CCDS34223.1																																																																																				0.443	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		13	82	0	0	0	1	0	13	82				
SLCO1A2	6579	broad.mit.edu	37	12	21450358	21450358	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr12:21450358G>T	ENST00000307378.6	-	10	1775	c.1055C>A	c.(1054-1056)tCa>tAa	p.S352*	SLCO1A2_ENST00000390670.3_Nonsense_Mutation_p.S350*|SLCO1A2_ENST00000537524.1_Nonsense_Mutation_p.S220*|SLCO1A2_ENST00000458504.1_Nonsense_Mutation_p.S220*|SLCO1A2_ENST00000452078.1_Nonsense_Mutation_p.S352*	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	352					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	GATTGCATCTGAAGATGATAT	0.403																																						ENST00000307378.6																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1054-1056)tCa>tAa		solute carrier organic anion transporter family, member 1A2							140.0	134.0	136.0					12																	21450358		2203	4300	6503	SO:0001587	stop_gained	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21450358G>T		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1055C>A	12.37:g.21450358G>T	ENSP00000305974:p.Ser352*					SLCO1A2_ENST00000452078.1_Nonsense_Mutation_p.S352*|SLCO1A2_ENST00000390670.3_Nonsense_Mutation_p.S350*|SLCO1A2_ENST00000537524.1_Nonsense_Mutation_p.S220*|SLCO1A2_ENST00000458504.1_Nonsense_Mutation_p.S220*	p.S352*	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN			10	1775	-			352					Q9UGP7|Q9UL38	Nonsense_Mutation	SNP	ENST00000307378.6	37	c.1055C>A	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	G	39	7.648290	0.98409	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	.	.	.	4.49	4.49	0.54785	.	0.355268	0.30492	N	0.009520	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9105	0.79470	0.0:0.0:1.0:0.0	.	.	.	.	X	352;352;220;220;350	.	ENSP00000305974:S352X	S	-	2	0	SLCO1A2	21341625	1.000000	0.71417	0.128000	0.21923	0.991000	0.79684	8.817000	0.91985	2.497000	0.84241	0.655000	0.94253	TCA		0.403	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		4	47	1	0	0.00024832	1	0.000253718	4	47				
RIOK1	83732	broad.mit.edu	37	6	7405510	7405510	+	Silent	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr6:7405510C>T	ENST00000379834.2	+	12	1632	c.1125C>T	c.(1123-1125)gtC>gtT	p.V375V		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	375	Protein kinase.		V -> I (in dbSNP:rs56067778).				ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GTGTTGCTGTCATGACTGTGC	0.393																																						ENST00000379834.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1123-1125)gtC>gtT		RIO kinase 1							90.0	80.0	83.0					6																	7405510		2203	4300	6503	SO:0001819	synonymous_variant	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7405510C>T	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.1125C>T	6.37:g.7405510C>T							p.V375V	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			12	1632	+	Ovarian(93;0.0418)		375		V -> I (in dbSNP:rs56067778).	Protein kinase.		B2RB28|Q8NDC8|Q96NV9	Silent	SNP	ENST00000379834.2	37	c.1125C>T	CCDS4500.1																																																																																				0.393	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		5	87	0	0	0	1	0	5	87				
C4BPA	722	broad.mit.edu	37	1	207287510	207287510	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:207287510C>T	ENST00000367070.3	+	3	402	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	70	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GACTGAGACACGCTTCAAAAC	0.473																																						ENST00000367070.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(208-210)Cgc>Tgc		complement component 4 binding protein, alpha							188.0	167.0	174.0					1																	207287510		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207287510C>T	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.208C>T	1.37:g.207287510C>T	ENSP00000356037:p.Arg70Cys						p.R70C	NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN			3	402	+			70			Sushi 1.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.208C>T	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962760	0.53507	.	.	ENSG00000123838	ENST00000367070;ENST00000421786	T;T	0.65732	-0.17;-0.17	4.98	-6.96	0.01622	Complement control module (2);Sushi/SCR/CCP (3);	2.304150	0.01312	N	0.010650	T	0.64516	0.2605	L	0.42245	1.32	0.09310	N	1	P	0.39883	0.693	P	0.54312	0.748	T	0.63269	-0.6675	10	0.36615	T	0.2	.	7.7274	0.28767	0.4033:0.427:0.1697:0.0	.	70	P04003	C4BPA_HUMAN	C	70	ENSP00000356037:R70C;ENSP00000403386:R70C	ENSP00000356037:R70C	R	+	1	0	C4BPA	205354133	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.480000	0.06559	-1.345000	0.02214	-0.165000	0.13383	CGC		0.473	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			9	155	0	0	0	1	0	9	155				
MTR	4548	broad.mit.edu	37	1	237037072	237037072	+	Splice_Site	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:237037072G>A	ENST00000366577.5	+	23	2799		c.e23-1		MTR_ENST00000535889.1_Splice_Site	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CTGTGCCTCAGAGTTATTGAT	0.358																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.e23-1		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						145.0	132.0	136.0					1																	237037072		2203	4300	6503	SO:0001630	splice_region_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237037072G>A	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2406-1G>A	1.37:g.237037072G>A						MTR_ENST00000535889.1_Splice_Site		NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	23	2799	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)						A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Splice_Site	SNP	ENST00000366577.5	37		CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326749	0.81690	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1899	0.93660	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTR	235103695	1.000000	0.71417	0.996000	0.52242	0.894000	0.52154	8.792000	0.91856	2.760000	0.94817	0.655000	0.94253	.		0.358	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254	Intron	4	56	0	0	0	1	0	4	56				
TUBB8P7	197331	broad.mit.edu	37	16	90161609	90161609	+	RNA	SNP	A	A	G	rs371305733		TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr16:90161609A>G	ENST00000564451.1	+	0	962				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TGATGGAGTCAGTGATGGACG	0.617																																						ENST00000567960.1																			0																																																			197331							g.chr16:90161609A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161609A>G						TUBB8P7_ENST00000564451.1_RNA								0	345	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.617	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	58	0	0	0	1	0	4	58				
RFX1	5989	broad.mit.edu	37	19	14076339	14076339	+	Silent	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr19:14076339G>A	ENST00000254325.4	-	16	2367	c.2133C>T	c.(2131-2133)atC>atT	p.I711I		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	711					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CAAAGTTCCGGATCGCTTGGG	0.662																																						ENST00000254325.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(2131-2133)atC>atT		regulatory factor X, 1 (influences HLA class II expression)							103.0	109.0	107.0					19																	14076339		2203	4300	6503	SO:0001819	synonymous_variant	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14076339G>A		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.2133C>T	19.37:g.14076339G>A							p.I711I	NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		16	2367	-			711						Silent	SNP	ENST00000254325.4	37	c.2133C>T	CCDS12301.1																																																																																				0.662	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		10	93	0	0	0	1	0	10	93				
SEMA5A	9037	broad.mit.edu	37	5	9202132	9202132	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr5:9202132G>C	ENST00000382496.5	-	9	1532	c.867C>G	c.(865-867)aaC>aaG	p.N289K		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	289	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCTGCAATTCGTTGTAGTAAA	0.478																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(865-867)aaC>aaG		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							75.0	72.0	73.0					5																	9202132		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9202132G>C	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.867C>G	5.37:g.9202132G>C	ENSP00000371936:p.Asn289Lys						p.N289K	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			9	1532	-			289			Sema.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.867C>G	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636750	0.67130	.	.	ENSG00000112902	ENST00000382496	T	0.16743	2.32	5.84	-2.87	0.05700	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.242496	0.47455	D	0.000237	T	0.42268	0.1195	M	0.92555	3.32	0.53005	D	0.999969	P	0.52316	0.952	P	0.62560	0.904	T	0.55496	-0.8132	10	0.87932	D	0	.	11.846	0.52385	0.6073:0.0:0.3927:0.0	.	289	Q13591	SEM5A_HUMAN	K	289	ENSP00000371936:N289K	ENSP00000371936:N289K	N	-	3	2	SEMA5A	9255132	0.451000	0.25705	0.863000	0.33907	0.873000	0.50193	-0.202000	0.09451	-0.410000	0.07542	-0.140000	0.14226	AAC		0.478	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			4	71	0	0	0	1	0	4	71				
PIK3CG	5294	broad.mit.edu	37	7	106509636	106509636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr7:106509636C>T	ENST00000359195.3	+	2	1940	c.1630C>T	c.(1630-1632)Cga>Tga	p.R544*	PIK3CG_ENST00000440650.2_Nonsense_Mutation_p.R544*|PIK3CG_ENST00000496166.1_Nonsense_Mutation_p.R544*	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	544	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGACCGGGTTCGAGCAGAAAT	0.542																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1630-1632)Cga>Tga		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							85.0	82.0	83.0					7																	106509636		2203	4300	6503	SO:0001587	stop_gained	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509636C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1630C>T	7.37:g.106509636C>T	ENSP00000352121:p.Arg544*					PIK3CG_ENST00000496166.1_Nonsense_Mutation_p.R544*|PIK3CG_ENST00000440650.2_Nonsense_Mutation_p.R544*	p.R544*	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	1940	+			544					A4D0Q6|Q8IV23|Q9BZC8	Nonsense_Mutation	SNP	ENST00000359195.3	37	c.1630C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	38	6.904157	0.97924	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	.	.	.	5.81	2.86	0.33363	.	0.127310	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-12.7755	15.3584	0.74448	0.5961:0.4039:0.0:0.0	.	.	.	.	X	544	.	ENSP00000352121:R544X	R	+	1	2	PIK3CG	106296872	0.725000	0.28048	0.943000	0.38184	0.989000	0.77384	1.384000	0.34396	0.766000	0.33244	0.655000	0.94253	CGA		0.542	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			13	61	0	0	0	1	0	13	61				
ZNF440	126070	broad.mit.edu	37	19	11943646	11943646	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr19:11943646C>T	ENST00000304060.5	+	4	1819	c.1655C>T	c.(1654-1656)tCa>tTa	p.S552L		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	552					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAAAGCCTTCAGATCTGCCC	0.493																																						ENST00000304060.5																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1654-1656)tCa>tTa		zinc finger protein 440							62.0	65.0	64.0					19																	11943646		2197	4294	6491	SO:0001583	missense	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11943646C>T	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1655C>T	19.37:g.11943646C>T	ENSP00000305373:p.Ser552Leu						p.S552L	NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN			4	1819	+			552					Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	c.1655C>T	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.069716	0.00382	.	.	ENSG00000171295	ENST00000304060	T	0.04317	3.65	0.658	-0.568	0.11760	.	.	.	.	.	T	0.04137	0.0115	L	0.33668	1.02	0.19775	N	0.99996	B	0.16396	0.017	B	0.19666	0.026	T	0.41034	-0.9531	9	0.87932	D	0	.	4.8682	0.13618	0.0:0.5851:0.0:0.4148	.	552	Q8IYI8	ZN440_HUMAN	L	552	ENSP00000305373:S552L	ENSP00000305373:S552L	S	+	2	0	ZNF440	11804646	0.024000	0.19004	0.003000	0.11579	0.003000	0.03518	0.134000	0.15932	-0.186000	0.10533	-1.054000	0.02325	TCA		0.493	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		10	61	0	0	0	1	0	10	61				
UBN2	254048	broad.mit.edu	37	7	138957170	138957170	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr7:138957170C>T	ENST00000473989.3	+	9	1699	c.1699C>T	c.(1699-1701)Caa>Taa	p.Q567*	UBN2_ENST00000288561.8_Nonsense_Mutation_p.Q484*	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	567						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GGCTCGTAGTCAAGCTAAGTG	0.393																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(1450-1452)Caa>Taa		ubinuclein 2							156.0	150.0	152.0					7																	138957170		1964	4148	6112	SO:0001587	stop_gained	254048							g.chr7:138957170C>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1699C>T	7.37:g.138957170C>T	ENSP00000418648:p.Gln567*					UBN2_ENST00000473989.2_Nonsense_Mutation_p.Q567*	p.Q484*	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			9	1699	+			567					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Nonsense_Mutation	SNP	ENST00000473989.3	37	c.1450C>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	40	8.399265	0.98794	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	.	.	.	5.65	5.65	0.86999	.	0.400420	0.27922	N	0.017313	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-7.6642	19.7202	0.96139	0.0:1.0:0.0:0.0	.	.	.	.	X	567;484	.	ENSP00000288561:Q484X	Q	+	1	0	UBN2	138607710	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.622000	0.61240	2.660000	0.90430	0.555000	0.69702	CAA		0.393	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		9	157	0	0	0	1	0	9	157				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			2679							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		4	33	0	0	0	1	0	4	33				
STK11	6794	broad.mit.edu	37	19	1218445	1218445	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr19:1218445A>T	ENST00000326873.7	+	2	1493	c.320A>T	c.(319-321)cAc>cTc	p.H107L	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	107	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)|p.H107R(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTTACGGCACAAAAATGTC	0.547		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												ENST00000326873.7		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	"""D, Mis, N, F, S"""	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		"""jejunal harmartoma, ovarian, testicular, pancreatic"""	"""NSCLC, pancreatic"""		24	Whole gene deletion(20)|Unknown(2)|Substitution - Missense(1)|Deletion - Frameshift(1)	p.0?(20)|p.?(3)|p.H107R(1)	cervix(16)|lung(4)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328						c.(319-321)cAc>cTc		serine/threonine kinase 11							171.0	176.0	174.0					19																	1218445		1990	4160	6150	SO:0001583	missense	6794	Peutz-Jeghers syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1218445A>T	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.320A>T	19.37:g.1218445A>T	ENSP00000324856:p.His107Leu	TSP Lung(3;<1E-08)				STK11_ENST00000585748.1_3'UTR	p.H107L	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1493	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	107			Protein kinase.		B2RBX7|E7EW76	Missense_Mutation	SNP	ENST00000326873.7	37	c.320A>T	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.279940	0.80692	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	T	0.78481	-1.18	4.1	4.1	0.47936	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91576	0.7339	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93640	0.6964	10	0.87932	D	0	-40.5079	12.2854	0.54789	1.0:0.0:0.0:0.0	.	107	Q15831	STK11_HUMAN	L	107	ENSP00000324856:H107L	ENSP00000324856:H107L	H	+	2	0	STK11	1169445	1.000000	0.71417	0.479000	0.27329	0.809000	0.45718	9.097000	0.94193	1.506000	0.48736	0.402000	0.26972	CAC		0.547	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		19	192	0	0	0	1	0	19	192				
SATB2	23314	broad.mit.edu	37	2	200188670	200188670	+	Silent	SNP	C	C	T	rs377059710		TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr2:200188670C>T	ENST00000417098.1	-	9	2214	c.1398G>A	c.(1396-1398)tcG>tcA	p.S466S	RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000428695.1_Silent_p.S348S|SATB2_ENST00000260926.5_Silent_p.S466S|SATB2_ENST00000457245.1_Silent_p.S466S|SATB2_ENST00000443023.1_Silent_p.S407S	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	466					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGTCGGTGTCGAGGTTTTGG	0.458																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1219-1221)tcG>tcA		SATB homeobox 2		C	,,	0,4406		0,0,2203	126.0	125.0	125.0		1398,1398,1398	4.1	1.0	2		125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SATB2	NM_001172509.1,NM_001172517.1,NM_015265.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	466/734,466/734,466/734	200188670	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200188670C>T	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1398G>A	2.37:g.200188670C>T						SATB2_ENST00000260926.5_Silent_p.S466S|SATB2_ENST00000428695.1_Silent_p.S348S|SATB2_ENST00000457245.1_Silent_p.S466S|SATB2_ENST00000417098.1_Silent_p.S466S	p.S407S			Q9UPW6	SATB2_HUMAN			8	2686	-			466					A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	c.1221G>A	CCDS2327.1																																																																																				0.458	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		17	104	0	0	0	1	0	17	104				
HIST1H3C	8352	broad.mit.edu	37	6	26045649	26045649	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr6:26045649C>T	ENST00000540144.1	+	1	11	c.11C>T	c.(10-12)aCg>aTg	p.T4M	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	4					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						ATGGCTCGTACGAAGCAAACA	0.507																																						ENST00000540144.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						c.(10-12)aCg>aTg		histone cluster 1, H3c							49.0	52.0	51.0					6																	26045649		2203	4298	6501	SO:0001583	missense	8352				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26045649C>T	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.11C>T	6.37:g.26045649C>T	ENSP00000439493:p.Thr4Met						p.T4M	NM_003531.2	NP_003522.1	P68431	H31_HUMAN			1	11	+			4					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000540144.1	37	c.11C>T	CCDS4576.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.003109	0.35320	.	.	ENSG00000196532	ENST00000540144	T	0.46063	0.88	4.67	4.67	0.58626	.	.	.	.	.	T	0.55000	0.1893	.	.	.	0.45662	D	0.998582	.	.	.	.	.	.	T	0.60885	-0.7174	6	0.87932	D	0	.	17.4292	0.87534	0.0:1.0:0.0:0.0	.	.	.	.	M	4	ENSP00000439493:T4M	ENSP00000439493:T4M	T	+	2	0	HIST1H3C	26153628	1.000000	0.71417	0.790000	0.31976	0.127000	0.20565	7.685000	0.84117	2.529000	0.85273	0.591000	0.81541	ACG		0.507	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		4	121	0	0	0	1	0	4	121				
CREBRF	153222	broad.mit.edu	37	5	172517753	172517753	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr5:172517753C>G	ENST00000296953.2	+	4	890	c.571C>G	c.(571-573)Ctg>Gtg	p.L191V	CREBRF_ENST00000520420.1_Missense_Mutation_p.L191V|CREBRF_ENST00000540014.1_Missense_Mutation_p.L191V|CREBRF_ENST00000522692.1_Missense_Mutation_p.L191V	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	191					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTCTAAGACTCTGCAGGCTGA	0.428																																						ENST00000540014.1																			0											c.(571-573)Ctg>Gtg		CREB3 regulatory factor							48.0	46.0	47.0					5																	172517753		2203	4300	6503	SO:0001583	missense	153222						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:172517753C>G	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.571C>G	5.37:g.172517753C>G	ENSP00000296953:p.Leu191Val					CREBRF_ENST00000296953.2_Missense_Mutation_p.L191V|CREBRF_ENST00000520420.1_Missense_Mutation_p.L191V|CREBRF_ENST00000522692.1_Missense_Mutation_p.L191V	p.L191V			Q8IUR6	CE041_HUMAN			4	890	+			191					B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	37	c.571C>G	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.476452	0.01035	.	.	ENSG00000164463	ENST00000522692;ENST00000296953;ENST00000540014;ENST00000520420;ENST00000538538;ENST00000393776	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.83	1.82	0.25136	.	0.507581	0.22411	N	0.060403	T	0.40595	0.1123	N	0.03608	-0.345	0.28357	N	0.920611	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.22417	-1.0217	10	0.24483	T	0.36	.	6.0719	0.19893	0.1786:0.3621:0.391:0.0683	.	191;191	Q8IUR6;Q8IUR6-2	CE041_HUMAN;.	V	191	ENSP00000431107:L191V;ENSP00000296953:L191V;ENSP00000440075:L191V;ENSP00000428290:L191V	ENSP00000296953:L191V	L	+	1	2	C5orf41	172450359	0.414000	0.25408	0.994000	0.49952	0.925000	0.55904	-0.005000	0.12855	0.793000	0.33875	-0.121000	0.15023	CTG		0.428	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607		10	44	0	0	0	1	0	10	44				
TMCC2	9911	broad.mit.edu	37	1	205238090	205238090	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:205238090G>A	ENST00000358024.3	+	3	1149	c.760G>A	c.(760-762)Gac>Aac	p.D254N	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.D176N|TMCC2_ENST00000330675.7_Missense_Mutation_p.D29N|TMCC2_ENST00000329800.7_Missense_Mutation_p.D14N	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	254						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGATAAGGGAGACCTGGTGGC	0.647																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(760-762)Gac>Aac		transmembrane and coiled-coil domain family 2							42.0	49.0	47.0					1																	205238090		2187	4262	6449	SO:0001583	missense	9911					integral to membrane	protein binding	g.chr1:205238090G>A	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.760G>A	1.37:g.205238090G>A	ENSP00000350718:p.Asp254Asn					TMCC2_ENST00000545499.1_Missense_Mutation_p.D176N|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000329800.7_Missense_Mutation_p.D14N|TMCC2_ENST00000330675.7_Missense_Mutation_p.D29N	p.D254N	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		3	1149	+	Breast(84;0.0871)		254					A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	37	c.760G>A	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587321	0.46110	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000367159;ENST00000330675;ENST00000329800	T;T;T;T	0.52057	1.22;1.26;0.68;0.69	5.39	5.39	0.77823	.	0.195514	0.52532	D	0.000067	T	0.64713	0.2623	L	0.57536	1.79	0.58432	D	0.999997	P;B;B;D	0.71674	0.546;0.039;0.079;0.998	B;B;B;D	0.65987	0.136;0.034;0.032;0.94	T	0.61544	-0.7041	10	0.37606	T	0.19	-17.1381	18.7486	0.91804	0.0:0.0:1.0:0.0	.	50;14;29;254	Q8IW47;G5E963;B2RAX5;O75069	.;.;.;TMCC2_HUMAN	N	254;176;58;29;14	ENSP00000350718:D254N;ENSP00000437943:D176N;ENSP00000331842:D29N;ENSP00000329436:D14N	ENSP00000329436:D14N	D	+	1	0	TMCC2	203504713	1.000000	0.71417	0.787000	0.31911	0.096000	0.18686	6.770000	0.74990	2.537000	0.85549	0.462000	0.41574	GAC		0.647	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		5	97	0	0	0	1	0	5	97				
CRISP2	7180	broad.mit.edu	37	6	49660582	49660582	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr6:49660582A>C	ENST00000339139.4	-	10	872	c.636T>G	c.(634-636)agT>agG	p.S212R		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	212	ShKT. {ECO:0000255|PROSITE- ProRule:PRU01005}.				single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AATCACAGTTACTTAGGAGAT	0.363																																						ENST00000339139.4																			0				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19						c.(634-636)agT>agG		cysteine-rich secretory protein 2							121.0	109.0	113.0					6																	49660582		2203	4300	6503	SO:0001583	missense	7180					extracellular space		g.chr6:49660582A>C	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"""cancer/testis antigen 36"""	187430	"""testis specific protein 1 (probe H4-1 p3-1)"""	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.636T>G	6.37:g.49660582A>C	ENSP00000339155:p.Ser212Arg						p.S212R	NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		10	872	-	Lung NSC(77;0.0161)		212					A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	c.636T>G	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.464522	0.43736	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.08896	3.04	5.14	0.74	0.18330	Cysteine-rich secretory protein (1);	0.398125	0.27563	N	0.018802	T	0.14614	0.0353	M	0.87682	2.9	0.41549	D	0.98856	D;D	0.76494	0.999;0.994	D;D	0.77004	0.989;0.976	T	0.01988	-1.1234	10	0.59425	D	0.04	.	3.1606	0.06518	0.4844:0.0:0.296:0.2196	.	247;212	Q7Z7B2;P16562	.;CRIS2_HUMAN	R	212;247	ENSP00000339155:S212R	ENSP00000211238:S247R	S	-	3	2	CRISP2	49768541	0.999000	0.42202	1.000000	0.80357	0.186000	0.23388	0.446000	0.21694	0.377000	0.24735	0.528000	0.53228	AGT		0.363	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		9	93	0	0	0	1	0	9	93				
SYNE1	23345	broad.mit.edu	37	6	152675908	152675908	+	Silent	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr6:152675908C>T	ENST00000367255.5	-	67	11413	c.10812G>A	c.(10810-10812)gaG>gaA	p.E3604E	SYNE1_ENST00000341594.5_Silent_p.E3575E|SYNE1_ENST00000448038.1_Silent_p.E3611E|SYNE1_ENST00000423061.1_Silent_p.E3611E|SYNE1_ENST00000265368.4_Silent_p.E3604E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3604					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAAACTTTTGCTCCATTAGCC	0.478										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(10810-10812)gaG>gaA		spectrin repeat containing, nuclear envelope 1							205.0	181.0	189.0					6																	152675908		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152675908C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10812G>A	6.37:g.152675908C>T		HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Silent_p.E3575E|SYNE1_ENST00000423061.1_Silent_p.E3611E|SYNE1_ENST00000265368.4_Silent_p.E3604E|SYNE1_ENST00000448038.1_Silent_p.E3611E	p.E3604E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	67	11413	-		Ovarian(120;0.0955)	3604					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.10812G>A	CCDS5236.2																																																																																				0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		10	97	0	0	0	1	0	10	97				
TSC2	7249	broad.mit.edu	37	16	2096334	2096334	+	5'Flank	SNP	G	G	A	rs139165943	byFrequency	TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr16:2096334G>A	ENST00000219476.3	+	0	0				TSC2_ENST00000401874.2_5'Flank|TSC2_ENST00000568454.1_5'Flank|TSC2_ENST00000350773.4_5'Flank|TSC2_ENST00000439673.2_5'Flank|NTHL1_ENST00000219066.1_Missense_Mutation_p.P58L|NTHL1_ENST00000562951.1_5'Flank|TSC2_ENST00000382538.6_5'Flank|TSC2_ENST00000353929.4_5'Flank	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGCTTTCCGCGGACGCTTCAC	0.632			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				G|||	2	0.000399361	0.0015	0.0	5008	,	,		19442	0.0		0.0	False		,,,				2504	0.0					ENST00000219066.1			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249		tuberous sclerosis 2 gene			"""E, O"""					0				lung(1)	1						c.(172-174)cCg>cTg	Base excision repair (BER), DNA glycosylases	nth endonuclease III-like 1 (E. coli)		G	LEU/PRO	3,4393	6.2+/-15.9	0,3,2195	76.0	78.0	78.0		173	-3.1	0.0	16	dbSNP_134	78	0,8598		0,0,4299	yes	missense	NTHL1	NM_002528.5	98	0,3,6494	AA,AG,GG		0.0,0.0682,0.0231	benign	58/313	2096334	3,12991	2198	4299	6497	SO:0001631	upstream_gene_variant	4913		Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding	g.chr16:2096334G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745		16.37:g.2096334G>A	Exception_encountered						p.P58L	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN			2	191	-			58					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.173C>T	CCDS10458.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.13	1.547561	0.27652	6.82E-4	0.0	ENSG00000065057	ENST00000219066	T	0.14516	2.5	4.55	-3.09	0.05331	.	1.441670	0.04699	N	0.415492	T	0.07908	0.0198	L	0.29908	0.895	0.09310	N	1	P;P	0.34587	0.458;0.458	B;B	0.21917	0.037;0.037	T	0.25745	-1.0123	10	0.32370	T	0.25	-0.9843	5.6153	0.17428	0.0:0.2465:0.3347:0.4188	.	58;58	E5KTI5;P78549	.;NTHL1_HUMAN	L	58	ENSP00000219066:P58L	ENSP00000219066:P58L	P	-	2	0	NTHL1	2036335	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.680000	0.05197	-1.039000	0.03275	-1.463000	0.01021	CCG		0.632	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		14	66	0	0	0	1	0	14	66				
ZNF470	388566	broad.mit.edu	37	19	57086066	57086066	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr19:57086066G>T	ENST00000330619.8	+	5	933	c.247G>T	c.(247-249)Gtg>Ttg	p.V83L	ZNF470_ENST00000601902.1_Missense_Mutation_p.V83L|ZNF470_ENST00000391709.3_Missense_Mutation_p.V83L	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	83	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AGACCCTTGGGTGATAAAAGG	0.428																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(247-249)Gtg>Ttg		zinc finger protein 470							73.0	72.0	72.0					19																	57086066		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57086066G>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.247G>T	19.37:g.57086066G>T	ENSP00000333223:p.Val83Leu					ZNF470_ENST00000601902.1_Missense_Mutation_p.V83L|ZNF470_ENST00000391709.3_Missense_Mutation_p.V83L	p.V83L	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	5	933	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	83			KRAB.		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.247G>T	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	9.657	1.143026	0.21205	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.06068	3.35;3.35	3.73	-4.07	0.03975	Krueppel-associated box (2);	.	.	.	.	T	0.02807	0.0084	N	0.10664	0.02	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.48456	-0.9034	9	0.17369	T	0.5	.	9.0697	0.36484	0.5027:0.0:0.4973:0.0	.	83	Q6ECI4	ZN470_HUMAN	L	83	ENSP00000375590:V83L;ENSP00000333223:V83L	ENSP00000333223:V83L	V	+	1	0	ZNF470	61777878	0.001000	0.12720	0.004000	0.12327	0.089000	0.18198	-0.523000	0.06230	-0.747000	0.04759	-0.140000	0.14226	GTG		0.428	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		4	45	1	0	0.0215528	1	0.0217067	4	45				
PLXNB1	5364	broad.mit.edu	37	3	48454538	48454538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:48454538G>A	ENST00000358536.4	-	24	4845	c.4576C>T	c.(4576-4578)Cag>Tag	p.Q1526*	PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000448774.2_Nonsense_Mutation_p.Q137*|PLXNB1_ENST00000358459.4_Nonsense_Mutation_p.Q1343*|PLXNB1_ENST00000296440.6_Nonsense_Mutation_p.Q1526*|PLXNB1_ENST00000456774.1_Nonsense_Mutation_p.Q1343*	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1526					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCTGGATCTGAACCTTCTTA	0.607																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(4576-4578)Cag>Tag		plexin B1							153.0	146.0	148.0					3																	48454538		2203	4300	6503	SO:0001587	stop_gained	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48454538G>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4576C>T	3.37:g.48454538G>A	ENSP00000351338:p.Gln1526*					PLXNB1_ENST00000456774.1_Nonsense_Mutation_p.Q1343*|PLXNB1_ENST00000358459.4_Nonsense_Mutation_p.Q1343*|PLXNB1_ENST00000296440.6_Nonsense_Mutation_p.Q1526*|PLXNB1_ENST00000448774.2_Nonsense_Mutation_p.Q137*	p.Q1526*	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	24	4845	-			1526					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Nonsense_Mutation	SNP	ENST00000358536.4	37	c.4576C>T	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	46	12.386872	0.99663	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	18.01	0.89220	0.0:0.0:1.0:0.0	.	.	.	.	X	1526;1343;1526;137;1343	.	ENSP00000296440:Q1526X	Q	-	1	0	PLXNB1	48429542	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.799000	0.99117	2.483000	0.83821	0.563000	0.77884	CAG		0.607	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		6	104	0	0	0	1	0	6	104				
CLEC4F	165530	broad.mit.edu	37	2	71044037	71044037	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr2:71044037G>A	ENST00000272367.2	-	4	552	c.476C>T	c.(475-477)gCc>gTc	p.A159V	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A159V	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	159					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAATGTAGTGGCATCCTTTAG	0.483																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2																			0				endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						c.(475-477)gCc>gTc		C-type lectin domain family 4, member F							130.0	107.0	115.0					2																	71044037		2203	4300	6503	SO:0001583	missense	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71044037G>A	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.476C>T	2.37:g.71044037G>A	ENSP00000272367:p.Ala159Val					CLEC4F_ENST00000426626.1_Missense_Mutation_p.A159V	p.A159V	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN			4	552	-			159					A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	c.476C>T	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	G	4.627	0.116499	0.08881	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.50277	0.75;0.75	3.97	1.19	0.21007	.	0.343112	0.21255	N	0.077576	T	0.33206	0.0855	L	0.50333	1.59	0.09310	N	1	P;P	0.34864	0.473;0.473	B;B	0.28553	0.091;0.091	T	0.12553	-1.0543	10	0.36615	T	0.2	.	6.243	0.20801	0.3232:0.0:0.6768:0.0	.	159;159	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	V	159	ENSP00000272367:A159V;ENSP00000390581:A159V	ENSP00000272367:A159V	A	-	2	0	CLEC4F	70897545	0.031000	0.19500	0.001000	0.08648	0.052000	0.14988	2.573000	0.46007	0.256000	0.21614	-0.373000	0.07131	GCC		0.483	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		24	81	0	0	0	1	0	24	81				
PCMTD1	115294	broad.mit.edu	37	8	52732960	52732960	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr8:52732960G>A	ENST00000360540.5	-	7	1431	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.P266L|PCMTD1_ENST00000522514.1_Missense_Mutation_p.P342L	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	342						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.P342L(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TTCAGGGAGGGGCAGCTTCAT	0.353																																						ENST00000360540.5																			2	Substitution - Missense(2)	p.P342L(2)	prostate(1)|skin(1)	NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(1024-1026)cCc>cTc		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1							70.0	68.0	69.0					8																	52732960		2203	4300	6503	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52732960G>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.1025C>T	8.37:g.52732960G>A	ENSP00000353739:p.Pro342Leu					PCMTD1_ENST00000522514.1_Missense_Mutation_p.P342L|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.P266L	p.P342L	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN			7	1431	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	342					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.1025C>T	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679697	0.88542	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.71461	0.24;-0.57;0.24	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.84835	0.5560	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.999	P;D;D	0.91635	0.769;0.999;0.981	D	0.84761	0.0762	10	0.87932	D	0	-0.0352	20.6593	0.99626	0.0:0.0:1.0:0.0	.	212;266;342	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	L	342;266;342	ENSP00000353739:P342L;ENSP00000444026:P266L;ENSP00000428099:P342L	ENSP00000353739:P342L	P	-	2	0	PCMTD1	52895513	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.903000	0.92573	2.885000	0.99019	0.655000	0.94253	CCC		0.353	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		4	137	0	0	0	1	0	4	137				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170174	20170174	+	RNA	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr15:20170174G>A	ENST00000338912.5	-	0	97									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		TGAGGCCCCAGGCTTCTTCAC	0.582																																						ENST00000338912.5																			0																				70.0	68.0	69.0					15																	20170174		1907	4114	6021			390531							g.chr15:20170174G>A	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170174G>A														0	97	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.582	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			8	83	0	0	0	1	0	8	83				
POLG	5428	broad.mit.edu	37	15	89867078	89867078	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr15:89867078G>A	ENST00000268124.5	-	12	2458	c.2125C>T	c.(2125-2127)Cga>Tga	p.R709*	POLG_ENST00000442287.2_Nonsense_Mutation_p.R709*	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	709					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ACTGCAGCTCGCAAGTTCTCC	0.572								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	GRCh37	CM033444	POLG	M		c.(2125-2127)Cga>Tga	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							130.0	122.0	124.0					15																	89867078		2200	4299	6499	SO:0001587	stop_gained	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89867078G>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2125C>T	15.37:g.89867078G>A	ENSP00000268124:p.Arg709*					POLG_ENST00000442287.2_Nonsense_Mutation_p.R709*	p.R709*	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		12	2458	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		709					Q8NFM2|Q92515	Nonsense_Mutation	SNP	ENST00000268124.5	37	c.2125C>T	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	G	38	7.168190	0.98111	.	.	ENSG00000140521	ENST00000268124;ENST00000442287;ENST00000526314	.	.	.	3.98	-4.15	0.03881	.	1.795170	0.02955	N	0.142230	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	17.4278	11.8961	0.52658	0.0:0.6461:0.1585:0.1953	.	.	.	.	X	709;709;165	.	ENSP00000268124:R709X	R	-	1	2	POLG	87668082	0.000000	0.05858	0.000000	0.03702	0.332000	0.28634	0.080000	0.14802	-0.764000	0.04651	-0.169000	0.13324	CGA		0.572	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		7	37	0	0	0	1	0	7	37				
JOSD2	126119	broad.mit.edu	37	19	51010853	51010853	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr19:51010853C>T	ENST00000598418.1	-	3	503	c.250G>A	c.(250-252)Gcc>Acc	p.A84T	JOSD2_ENST00000595669.1_Intron|JOSD2_ENST00000601423.1_Missense_Mutation_p.A84T|JOSD2_ENST00000391815.3_Missense_Mutation_p.A84T	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	84	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)	cytoplasm (GO:0005737)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		CACCACACGGCGGCCAGGCCC	0.667																																						ENST00000598418.1																			0				kidney(1)|lung(3)|prostate(1)	5						c.(250-252)Gcc>Acc		Josephin domain containing 2							75.0	83.0	81.0					19																	51010853		2203	4298	6501	SO:0001583	missense	126119				protein deubiquitination		ubiquitin-specific protease activity	g.chr19:51010853C>T	AF247787	CCDS12797.1, CCDS59413.1	19q13.33	2008-02-05				ENSG00000161677			28853	protein-coding gene	gene with protein product		615324					Standard	NM_138334		Approved	SBBI54	uc031rmi.1	Q8TAC2		ENST00000598418.1:c.250G>A	19.37:g.51010853C>T	ENSP00000468956:p.Ala84Thr					JOSD2_ENST00000391815.3_Missense_Mutation_p.A84T|JOSD2_ENST00000595669.1_Intron|JOSD2_ENST00000601423.1_Missense_Mutation_p.A84T	p.A84T	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)	3	503	-		all_neural(266;0.131)	84			Josephin.		M0QX25	Missense_Mutation	SNP	ENST00000598418.1	37	c.250G>A	CCDS12797.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108181	0.77096	.	.	ENSG00000161677	ENST00000293431;ENST00000391815	T	0.42131	0.98	3.42	2.34	0.29019	.	0.072221	0.53938	N	0.000053	T	0.57125	0.2032	M	0.71036	2.16	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.54609	-0.8268	10	0.45353	T	0.12	-6.3226	7.9904	0.30237	0.0:0.866:0.0:0.134	.	84	Q8TAC2	JOS2_HUMAN	T	104;84	ENSP00000375691:A84T	ENSP00000293431:A104T	A	-	1	0	JOSD2	55702665	1.000000	0.71417	0.961000	0.40146	0.986000	0.74619	5.446000	0.66600	0.726000	0.32339	0.549000	0.68633	GCC		0.667	JOSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464902.1	NM_138334		8	139	0	0	0	1	0	8	139				
TRIM10	10107	broad.mit.edu	37	6	30126364	30126364	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr6:30126364C>T	ENST00000449742.2	-	3	643	c.568G>A	c.(568-570)Gca>Aca	p.A190T	TRIM10_ENST00000376704.3_Missense_Mutation_p.A190T	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	190					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.A190T(1)		ovary(1)	1						CTCAGGTGTGCGAACTCAGAA	0.512																																						ENST00000449742.2																			1	Substitution - Missense(1)	p.A190T(1)	prostate(1)	ovary(1)	1						c.(568-570)Gca>Aca		tripartite motif containing 10							262.0	283.0	276.0					6																	30126364		1511	2709	4220	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30126364C>T	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.568G>A	6.37:g.30126364C>T	ENSP00000397073:p.Ala190Thr					TRIM10_ENST00000376704.3_Missense_Mutation_p.A190T	p.A190T	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN			3	643	-			190					A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.568G>A	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	C	6.673	0.492709	0.12702	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.04758	3.56;3.56	5.68	0.586	0.17434	.	0.376195	0.22913	N	0.054107	T	0.01835	0.0058	M	0.71581	2.175	0.18873	N	0.999986	B;B	0.28971	0.147;0.229	B;B	0.28709	0.035;0.093	T	0.40701	-0.9549	10	0.49607	T	0.09	.	2.9036	0.05713	0.2355:0.5001:0.121:0.1434	.	190;190	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	T	190	ENSP00000397073:A190T;ENSP00000365894:A190T	ENSP00000365894:A190T	A	-	1	0	TRIM10	30234343	0.001000	0.12720	0.124000	0.21820	0.005000	0.04900	-0.436000	0.06922	0.072000	0.16694	-2.526000	0.00183	GCA		0.512	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			6	348	0	0	0	1	0	6	348				
ABHD6	57406	broad.mit.edu	37	3	58252993	58252993	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:58252993G>A	ENST00000478253.1	+	4	698	c.197G>A	c.(196-198)gGc>gAc	p.G66D	ABHD6_ENST00000295962.4_Missense_Mutation_p.G66D			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	66					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		TCCTTCCGGGGCAGGCCTGGG	0.517																																						ENST00000478253.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16						c.(196-198)gGc>gAc		abhydrolase domain containing 6							161.0	137.0	145.0					3																	58252993		2203	4300	6503	SO:0001583	missense	57406					integral to membrane	acylglycerol lipase activity	g.chr3:58252993G>A	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.197G>A	3.37:g.58252993G>A	ENSP00000420315:p.Gly66Asp					ABHD6_ENST00000295962.4_Missense_Mutation_p.G66D	p.G66D			Q9BV23	ABHD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)	4	698	+			66					B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	c.197G>A	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204701	0.95033	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756;ENST00000485900	D;D;D;D	0.89939	-1.79;-1.79;-2.59;-2.59	5.27	5.27	0.74061	.	0.103284	0.64402	D	0.000002	D	0.94272	0.8160	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	D	0.94520	0.7726	10	0.62326	D	0.03	-22.0906	18.5428	0.91035	0.0:0.0:1.0:0.0	.	66;66	Q9BV23;F5H7L1	ABHD6_HUMAN;.	D	66	ENSP00000420315:G66D;ENSP00000295962:G66D;ENSP00000420408:G66D;ENSP00000418934:G66D	ENSP00000295962:G66D	G	+	2	0	ABHD6	58228033	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.371000	0.97162	2.468000	0.83385	0.555000	0.69702	GGC		0.517	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		4	73	0	0	0	1	0	4	73				
KIAA1683	80726	broad.mit.edu	37	19	18368439	18368439	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr19:18368439G>A	ENST00000600328.3	-	4	3287	c.3094C>T	c.(3094-3096)Cgc>Tgc	p.R1032C	KIAA1683_ENST00000600359.3_Missense_Mutation_p.R986C|PDE4C_ENST00000596647.1_5'Flank|PDE4C_ENST00000355502.3_5'Flank|KIAA1683_ENST00000392413.4_Missense_Mutation_p.R1219C			Q9H0B3	K1683_HUMAN	KIAA1683	1032						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGGAAGCAGCGATGGTCAGAT	0.662																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3655-3657)Cgc>Tgc		KIAA1683							28.0	30.0	29.0					19																	18368439		2192	4284	6476	SO:0001583	missense	80726					mitochondrion		g.chr19:18368439G>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.3094C>T	19.37:g.18368439G>A	ENSP00000470780:p.Arg1032Cys					KIAA1683_ENST00000600328.2_Missense_Mutation_p.R1032C|KIAA1683_ENST00000600359.2_Missense_Mutation_p.R986C	p.R1219C	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			4	3870	-			0					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.3655C>T	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290732	0.40494	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000392412;ENST00000411671	T;T;T	0.04083	3.76;3.85;3.71	4.26	3.22	0.36961	.	0.000000	0.33005	N	0.005389	T	0.09291	0.0229	L	0.34521	1.04	0.25140	N	0.990501	D;D	0.89917	0.999;1.0	P;D	0.69654	0.791;0.965	T	0.13124	-1.0521	10	0.34782	T	0.22	-25.3622	7.0663	0.25154	0.124:0.0:0.876:0.0	.	1219;1032	E9PDE0;Q9H0B3	.;K1683_HUMAN	C	1219;1032;986;296;646	ENSP00000376213:R1219C;ENSP00000352774:R1032C;ENSP00000404501:R986C	ENSP00000352774:R1032C	R	-	1	0	KIAA1683	18229439	1.000000	0.71417	0.999000	0.59377	0.070000	0.16714	1.601000	0.36773	1.935000	0.56089	0.313000	0.20887	CGC		0.662	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			12	49	0	0	0	1	0	12	49				
SULF1	23213	broad.mit.edu	37	8	70514051	70514051	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr8:70514051G>A	ENST00000260128.4	+	10	1765	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	SULF1_ENST00000419716.3_Missense_Mutation_p.E350K|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.E350K|SULF1_ENST00000458141.2_Missense_Mutation_p.E350K	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	350					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TCCAAGTGTAGAACCAGGATC	0.408																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1048-1050)Gaa>Aaa		sulfatase 1							352.0	307.0	322.0					8																	70514051		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70514051G>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1048G>A	8.37:g.70514051G>A	ENSP00000260128:p.Glu350Lys					SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.E350K|SULF1_ENST00000458141.2_Missense_Mutation_p.E350K|SULF1_ENST00000402687.4_Missense_Mutation_p.E350K	p.E350K	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		10	1765	+	Breast(64;0.0654)		350					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1048G>A	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988271	0.74589	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8	6.16	5.27	0.74061	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.042450	0.85682	D	0.000000	D	0.91395	0.7285	N	0.21142	0.635	0.80722	D	1	B	0.17852	0.024	B	0.16289	0.015	D	0.87125	0.2193	10	0.30854	T	0.27	.	17.4014	0.87460	0.0:0.1247:0.8753:0.0	.	350	Q8IWU6	SULF1_HUMAN	K	350	ENSP00000403040:E350K;ENSP00000260128:E350K;ENSP00000385704:E350K;ENSP00000390315:E350K	ENSP00000260128:E350K	E	+	1	0	SULF1	70676605	1.000000	0.71417	0.932000	0.37286	0.900000	0.52787	7.921000	0.87530	1.582000	0.49881	0.650000	0.86243	GAA		0.408	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		15	169	0	0	0	1	0	15	169				
CTNNB1	1499	broad.mit.edu	37	3	41266471	41266471	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:41266471C>T	ENST00000349496.5	+	4	548	c.268C>T	c.(268-270)Cga>Tga	p.R90*	CTNNB1_ENST00000453024.1_Nonsense_Mutation_p.R83*|CTNNB1_ENST00000396185.3_Nonsense_Mutation_p.R90*|CTNNB1_ENST00000405570.1_Nonsense_Mutation_p.R90*|CTNNB1_ENST00000396183.3_Nonsense_Mutation_p.R90*	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	90					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(3)|p.T3_A126del(2)|p.?(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.M5_N141>D(2)|p.M1_V173del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.A20_S111del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.E15_I140>V(1)|p.V22_T102del(1)|p.H24_M131del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P16_K133del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGCAATGACTCGAGCTCAGAG	0.428		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	37	Deletion - In frame(28)|Complex - deletion inframe(7)|Unknown(2)	p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(3)|p.T3_A126del(2)|p.?(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.M5_N141>D(2)|p.M1_V173del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.A20_S111del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.E15_I140>V(1)|p.V22_T102del(1)|p.H24_M131del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P16_K133del(1)	liver(30)|stomach(5)|adrenal_gland(1)|skin(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(268-270)Cga>Tga		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						190.0	168.0	175.0					3																	41266471		2203	4300	6503	SO:0001587	stop_gained	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266471C>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.268C>T	3.37:g.41266471C>T	ENSP00000344456:p.Arg90*					CTNNB1_ENST00000396185.3_Nonsense_Mutation_p.R90*|CTNNB1_ENST00000396183.3_Nonsense_Mutation_p.R90*|CTNNB1_ENST00000405570.1_Nonsense_Mutation_p.R90*|CTNNB1_ENST00000453024.1_Nonsense_Mutation_p.R83*	p.R90*	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	4	548	+			90					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Nonsense_Mutation	SNP	ENST00000349496.5	37	c.268C>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	35	5.497684	0.96355	.	.	ENSG00000168036	ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	.	.	.	5.7	3.72	0.42706	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3016	13.7188	0.62714	0.4178:0.5822:0.0:0.0	.	.	.	.	X	90;90;90;90;83;90;90;90	.	ENSP00000344456:R90X	R	+	1	2	CTNNB1	41241475	0.985000	0.35326	0.983000	0.44433	0.995000	0.86356	2.707000	0.47143	1.385000	0.46445	0.655000	0.94253	CGA		0.428	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		13	153	0	0	0	1	0	13	153				
OR2T6	254879	broad.mit.edu	37	1	248550957	248550957	+	Silent	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:248550957G>A	ENST00000355728.2	+	1	48	c.48G>A	c.(46-48)ggG>ggA	p.G16G		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G16G(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTCATGGGGCTCTTCACTC	0.423																																						ENST00000355728.2																			1	Substitution - coding silent(1)	p.G16G(1)	lung(1)	endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(46-48)ggG>ggA		olfactory receptor, family 2, subfamily T, member 6							135.0	132.0	133.0					1																	248550957		2203	4300	6503	SO:0001819	synonymous_variant	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248550957G>A	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.48G>A	1.37:g.248550957G>A							p.G16G	NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	48	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		16					A6NE36	Silent	SNP	ENST00000355728.2	37	c.48G>A	CCDS31114.1																																																																																				0.423	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		4	101	0	0	0	1	0	4	101				
CRISP1	167	broad.mit.edu	37	6	49814367	49814367	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr6:49814367C>G	ENST00000335847.4	-	5	402	c.301G>C	c.(301-303)Gaa>Caa	p.E101Q	CRISP1_ENST00000505118.1_Missense_Mutation_p.E101Q|CRISP1_ENST00000536021.1_Missense_Mutation_p.E101Q|CRISP1_ENST00000355791.2_Missense_Mutation_p.E101Q|CRISP1_ENST00000507853.1_Missense_Mutation_p.E101Q|CRISP1_ENST00000329411.5_Missense_Mutation_p.E101Q	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	101	SCP.				binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TGCATATTTTCTCCACAAAAG	0.363																																						ENST00000335847.4																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27						c.(301-303)Gaa>Caa		cysteine-rich secretory protein 1							158.0	138.0	144.0					6																	49814367		2203	4300	6503	SO:0001583	missense	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49814367C>G	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.301G>C	6.37:g.49814367C>G	ENSP00000338276:p.Glu101Gln					CRISP1_ENST00000536021.1_Missense_Mutation_p.E101Q|CRISP1_ENST00000507853.1_Missense_Mutation_p.E101Q|CRISP1_ENST00000505118.1_Missense_Mutation_p.E101Q|CRISP1_ENST00000355791.2_Missense_Mutation_p.E101Q|CRISP1_ENST00000329411.5_Missense_Mutation_p.E101Q	p.E101Q	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN			5	402	-	Lung NSC(77;0.0358)		101					B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	c.301G>C	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283815	0.40394	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62	5.34	4.48	0.54585	CAP domain (3);	0.053826	0.64402	D	0.000001	T	0.19846	0.0477	M	0.62209	1.925	0.38950	D	0.958331	D;D	0.89917	0.998;1.0	P;D	0.79108	0.874;0.992	T	0.01512	-1.1336	9	.	.	.	.	9.8488	0.41043	0.0:0.9058:0.0:0.0942	.	101;101	P54107-2;P54107	.;CRIS1_HUMAN	Q	101	ENSP00000425020:E101Q;ENSP00000338276:E101Q;ENSP00000348044:E101Q;ENSP00000331317:E101Q;ENSP00000427589:E101Q;ENSP00000441798:E101Q	.	E	-	1	0	CRISP1	49922326	1.000000	0.71417	0.998000	0.56505	0.061000	0.15899	3.752000	0.55172	1.258000	0.44101	0.650000	0.86243	GAA		0.363	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		15	76	0	0	0	1	0	15	76				
STK33	65975	broad.mit.edu	37	11	8457627	8457627	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr11:8457627C>T	ENST00000447869.1	-	9	1925	c.1007G>A	c.(1006-1008)aGa>aAa	p.R336K	STK33_ENST00000534493.1_Missense_Mutation_p.R295K|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Missense_Mutation_p.R149K|STK33_ENST00000396672.1_Missense_Mutation_p.R336K|STK33_ENST00000396673.1_Missense_Mutation_p.R336K|STK33_ENST00000315204.1_Missense_Mutation_p.R336K			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	336	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTCTCCTTTTCTTATTAACTC	0.318																																						ENST00000447869.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23						c.(1006-1008)aGa>aAa		serine/threonine kinase 33							52.0	49.0	50.0					11																	8457627		2201	4295	6496	SO:0001583	missense	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8457627C>T	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1007G>A	11.37:g.8457627C>T	ENSP00000416750:p.Arg336Lys					STK33_ENST00000315204.1_Missense_Mutation_p.R336K|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Missense_Mutation_p.R149K|STK33_ENST00000534493.1_Missense_Mutation_p.R295K|STK33_ENST00000396672.1_Missense_Mutation_p.R336K|STK33_ENST00000396673.1_Missense_Mutation_p.R336K	p.R336K			Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	9	1925	-			336			Protein kinase.		Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	c.1007G>A	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	C	7.106	0.575004	0.13623	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493	T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.86	-1.78	0.07957	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.693204	0.15488	N	0.259705	T	0.32971	0.0847	N	0.02876	-0.465	0.25202	N	0.990047	B;B	0.02656	0.0;0.0	B;B	0.09377	0.003;0.004	T	0.18999	-1.0319	10	0.28530	T	0.3	.	12.1493	0.54042	0.0:0.5048:0.0:0.4952	.	295;336	B4DDH2;Q9BYT3	.;STK33_HUMAN	K	336;336;336;149;336;91;295	ENSP00000416750:R336K;ENSP00000320754:R336K;ENSP00000379905:R336K;ENSP00000351743:R149K;ENSP00000379906:R336K;ENSP00000415688:R91K;ENSP00000436418:R295K	ENSP00000320754:R336K	R	-	2	0	STK33	8414203	0.248000	0.23930	0.942000	0.38095	0.963000	0.63663	0.196000	0.17176	-0.250000	0.09555	-0.157000	0.13467	AGA		0.318	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		9	110	0	0	0	1	0	9	110				
ATG7	10533	broad.mit.edu	37	3	11600092	11600092	+	IGR	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:11600092G>A	ENST00000354449.3	+	0	4959				VGLL4_ENST00000404339.1_Nonsense_Mutation_p.Q276*|VGLL4_ENST00000430365.2_Nonsense_Mutation_p.Q277*|VGLL4_ENST00000424529.2_Nonsense_Mutation_p.Q187*|VGLL4_ENST00000451674.2_Nonsense_Mutation_p.Q191*|VGLL4_ENST00000413604.1_Nonsense_Mutation_p.Q212*|VGLL4_ENST00000273038.3_Nonsense_Mutation_p.Q271*	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7						adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CTGGCGGGCTGGCCCCTGCGA	0.642																																						ENST00000273038.3																			0				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(811-813)Cag>Tag		vestigial like 4 (Drosophila)							47.0	55.0	52.0					3																	11600092		2203	4300	6503	SO:0001628	intergenic_variant	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11600092G>A	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740		3.37:g.11600092G>A						VGLL4_ENST00000404339.1_Nonsense_Mutation_p.Q276*|VGLL4_ENST00000424529.2_Nonsense_Mutation_p.Q187*|VGLL4_ENST00000451674.2_Nonsense_Mutation_p.Q191*|VGLL4_ENST00000413604.1_Nonsense_Mutation_p.Q212*|VGLL4_ENST00000430365.2_Nonsense_Mutation_p.Q277*	p.Q271*	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	6	1176	-			271					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Nonsense_Mutation	SNP	ENST00000354449.3	37	c.811C>T	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	G	37	6.529596	0.97641	.	.	ENSG00000144560	ENST00000273038;ENST00000413604;ENST00000451674;ENST00000424529;ENST00000430365;ENST00000404339	.	.	.	5.01	5.01	0.66863	.	0.064020	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-37.1129	18.3059	0.90180	0.0:0.0:1.0:0.0	.	.	.	.	X	271;212;191;187;277;276	.	ENSP00000273038:Q271X	Q	-	1	0	VGLL4	11575092	0.951000	0.32395	1.000000	0.80357	0.786000	0.44442	0.082000	0.14847	2.321000	0.78463	0.563000	0.77884	CAG		0.642	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		13	69	0	0	0	1	0	13	69				
CCDC39	339829	broad.mit.edu	37	3	180334096	180334096	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:180334096G>C	ENST00000442201.2	-	19	2761	c.2642C>G	c.(2641-2643)tCt>tGt	p.S881C	CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	881	Ser-rich.				axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATGTGAAGGAGATCTAGAGCT	0.413																																						ENST00000442201.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(2641-2643)tCt>tGt		coiled-coil domain containing 39							123.0	114.0	117.0					3																	180334096		1890	4116	6006	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180334096G>C	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2642C>G	3.37:g.180334096G>C	ENSP00000405708:p.Ser881Cys					CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron	p.S881C	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		19	2761	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		881			Ser-rich.		B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.2642C>G	CCDS46964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.14|11.14	1.551008|1.551008	0.27739|0.27739	.|.	.|.	ENSG00000145075|ENSG00000145075	ENST00000473854|ENST00000489868;ENST00000442201	.|.	.|.	.|.	5.23|5.23	4.36|4.36	0.52297|0.52297	.|.	.|.	.|.	.|.	.|.	T|T	0.67429|0.67429	0.2892|0.2892	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|D	.|0.57257	.|0.979	.|P	.|0.53062	.|0.717	T|T	0.71490|0.71490	-0.4577|-0.4577	5|8	.|0.54805	.|T	.|0.06	.|.	14.3481|14.3481	0.66680|0.66680	0.0:0.0:0.8506:0.1494|0.0:0.0:0.8506:0.1494	.|.	.|881	.|Q9UFE4	.|CCD39_HUMAN	V|C	65|53;881	.|.	.|ENSP00000405708:S881C	L|S	-|-	1|2	0|0	CCDC39|CCDC39	181816790|181816790	0.996000|0.996000	0.38824|0.38824	0.931000|0.931000	0.37212|0.37212	0.221000|0.221000	0.24807|0.24807	3.273000|3.273000	0.51623|0.51623	1.331000|1.331000	0.45412|0.45412	-0.493000|-0.493000	0.04662|0.04662	CTC|TCT		0.413	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		4	80	0	0	0	1	0	4	80				
LRP1B	53353	broad.mit.edu	37	2	141283496	141283496	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr2:141283496G>A	ENST00000389484.3	-	49	8914	c.7943C>T	c.(7942-7944)tCt>tTt	p.S2648F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2648	LDL-receptor class A 14. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTGAGGTAGAATTACATCT	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(7942-7944)tCt>tTt		low density lipoprotein receptor-related protein 1B							120.0	113.0	116.0					2																	141283496		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141283496G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7943C>T	2.37:g.141283496G>A	ENSP00000374135:p.Ser2648Phe	TSP Lung(27;0.18)					p.S2648F	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	49	8914	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2648			LDL-receptor class A 14.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7943C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279191	0.40294	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.92149	-2.98	5.04	5.04	0.67666	.	0.070107	0.64402	D	0.000016	D	0.90635	0.7063	M	0.71036	2.16	0.43642	D	0.996047	B	0.10296	0.003	B	0.14578	0.011	D	0.86852	0.2024	10	0.42905	T	0.14	.	13.2649	0.60128	0.0761:0.0:0.9238:0.0	.	2648	Q9NZR2	LRP1B_HUMAN	F	2648;2586	ENSP00000374135:S2648F	ENSP00000374135:S2648F	S	-	2	0	LRP1B	140999966	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.416000	0.66417	2.781000	0.95711	0.650000	0.86243	TCT		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		5	60	0	0	0	1	0	5	60				
PTPRF	5792	broad.mit.edu	37	1	44086606	44086606	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:44086606A>T	ENST00000359947.4	+	32	5802	c.5462A>T	c.(5461-5463)cAg>cTg	p.Q1821L	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.Q1180L|PTPRF_ENST00000372413.3_Missense_Mutation_p.Q1812L|PTPRF_ENST00000372414.3_Missense_Mutation_p.Q1821L|PTPRF_ENST00000438120.1_Missense_Mutation_p.Q1812L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1821	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTCATCGGGCAGGTGCATAAG	0.612																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(5461-5463)cAg>cTg		protein tyrosine phosphatase, receptor type, F							93.0	80.0	85.0					1																	44086606		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44086606A>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5462A>T	1.37:g.44086606A>T	ENSP00000353030:p.Gln1821Leu					PTPRF_ENST00000372413.3_Missense_Mutation_p.Q1812L|PTPRF_ENST00000372414.3_Missense_Mutation_p.Q1821L|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.Q1180L|PTPRF_ENST00000438120.1_Missense_Mutation_p.Q1812L	p.Q1821L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			32	5802	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1821			Tyrosine-protein phosphatase 2.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.5462A>T	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.9|27.9	4.876829|4.876829	0.91664|0.91664	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000429895	D;D;D;D;D;D|.	0.83914|.	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78|.	5.13|5.13	5.13|5.13	0.70059|0.70059	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);|.	.|.	.|.	.|.	.|.	T|T	0.60130|0.60130	0.2245|0.2245	L|L	0.41632|0.41632	1.29|1.29	0.80722|0.80722	D|D	1|1	B;D;D;D;D|.	0.89917|.	0.359;1.0;0.962;0.988;0.999|.	B;D;P;D;D|.	0.87578|.	0.155;0.991;0.889;0.953;0.998|.	T|T	0.57004|0.57004	-0.7885|-0.7885	9|5	0.59425|.	D|.	0.04|.	.|.	15.655|15.655	0.77126|0.77126	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1466;1180;1398;1812;1821|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	L|W	1821;1812;1821;1812;1180;893|1467	ENSP00000353030:Q1821L;ENSP00000398822:Q1812L;ENSP00000361491:Q1821L;ENSP00000361490:Q1812L;ENSP00000387885:Q1180L;ENSP00000361484:Q893L|.	ENSP00000353030:Q1821L|.	Q|R	+|+	2|1	0|2	PTPRF|PTPRF	43859193|43859193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.877000|0.877000	0.50540|0.50540	7.271000|7.271000	0.78506|0.78506	2.239000|2.239000	0.73571|0.73571	0.528000|0.528000	0.53228|0.53228	CAG|AGG		0.612	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			6	45	0	0	0	1	0	6	45				
SLFN13	146857	broad.mit.edu	37	17	33771680	33771680	+	Silent	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr17:33771680G>A	ENST00000285013.6	-	3	1295	c.1020C>T	c.(1018-1020)ccC>ccT	p.P340P	SLFN13_ENST00000360502.2_Silent_p.P22P|SLFN13_ENST00000533791.1_Silent_p.P340P|SLFN13_ENST00000526861.1_Silent_p.P340P|SLFN13_ENST00000542635.1_Silent_p.P340P|SLFN13_ENST00000534689.1_Silent_p.P22P	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	340						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAGTTGTCAAGGGGCGGATGT	0.488																																						ENST00000285013.6																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(1018-1020)ccC>ccT		schlafen family member 13							130.0	118.0	122.0					17																	33771680		2203	4300	6503	SO:0001819	synonymous_variant	146857					intracellular	ATP binding	g.chr17:33771680G>A	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1020C>T	17.37:g.33771680G>A						SLFN13_ENST00000360502.2_Silent_p.P22P|SLFN13_ENST00000542635.1_Silent_p.P340P|SLFN13_ENST00000526861.1_Silent_p.P340P|SLFN13_ENST00000534689.1_Silent_p.P22P|SLFN13_ENST00000533791.1_Silent_p.P340P	p.P340P	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	3	1295	-			340					E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP	ENST00000285013.6	37	c.1020C>T	CCDS32620.1																																																																																				0.488	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		8	102	0	0	0	1	0	8	102				
DCAF5	8816	broad.mit.edu	37	14	69522198	69522198	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr14:69522198T>A	ENST00000341516.5	-	9	1352	c.1205A>T	c.(1204-1206)cAt>cTt	p.H402L	DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000557386.1_Missense_Mutation_p.H401L|DCAF5_ENST00000556847.1_Missense_Mutation_p.H320L|DCAF5_ENST00000554215.1_Missense_Mutation_p.H320L	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	402					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GGCGTAGTCATGCGACAGGCC	0.577																																						ENST00000341516.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(1204-1206)cAt>cTt		DDB1 and CUL4 associated factor 5							138.0	130.0	133.0					14																	69522198		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69522198T>A	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1205A>T	14.37:g.69522198T>A	ENSP00000341351:p.His402Leu					DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000554215.1_Missense_Mutation_p.H320L|DCAF5_ENST00000557386.1_Missense_Mutation_p.H401L|DCAF5_ENST00000556847.1_Missense_Mutation_p.H320L	p.H402L	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN			9	1352	-			402					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.1205A>T	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.003967	0.74932	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.72725	-0.68;-0.51;-0.51;-0.01	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.77552	0.4147	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.957	T	0.79475	-0.1788	10	0.59425	D	0.04	-15.1288	15.938	0.79729	0.0:0.0:0.0:1.0	.	401;402	G3V4J7;Q96JK2	.;DCAF5_HUMAN	L	402;320;320;401	ENSP00000341351:H402L;ENSP00000451551:H320L;ENSP00000452052:H320L;ENSP00000451845:H401L	ENSP00000341351:H402L	H	-	2	0	DCAF5	68591951	1.000000	0.71417	0.536000	0.28039	0.994000	0.84299	7.542000	0.82095	2.167000	0.68274	0.459000	0.35465	CAT		0.577	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		33	154	0	0	0	1	0	33	154				
ILDR1	286676	broad.mit.edu	37	3	121712219	121712219	+	Silent	SNP	G	G	A	rs201105694		TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:121712219G>A	ENST00000344209.5	-	7	1503	c.1377C>T	c.(1375-1377)caC>caT	p.H459H	ILDR1_ENST00000393631.1_Silent_p.H370H|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Silent_p.H427H|ILDR1_ENST00000273691.3_Silent_p.H415H	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	459	Arg-rich.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GTCGTCTCCCGTGCCTCTGAG	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		15983	0.0		0.001	False		,,,				2504	0.0					ENST00000273691.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1243-1245)caC>caT		immunoglobulin-like domain containing receptor 1		G	,,	1,4403	2.1+/-5.4	0,1,2201	21.0	24.0	23.0		1377,1110,1245	1.6	0.0	3		23	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ILDR1	NM_001199799.1,NM_001199800.1,NM_175924.3	,,	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	,,	459/547,370/458,415/503	121712219	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121712219G>A	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.1377C>T	3.37:g.121712219G>A						ILDR1_ENST00000344209.5_Silent_p.H459H|ILDR1_ENST00000462014.1_Silent_p.H427H|ILDR1_ENST00000393631.1_Silent_p.H370H|ILDR1_ENST00000460554.1_5'UTR	p.H415H	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	6	1350	-			459					Q6ZP61|Q7Z578	Silent	SNP	ENST00000344209.5	37	c.1245C>T	CCDS56271.1																																																																																				0.687	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		12	33	0	0	0	1	0	12	33				
TAS2R31	259290	broad.mit.edu	37	12	11183305	11183305	+	Missense_Mutation	SNP	C	C	G	rs200367513		TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr12:11183305C>G	ENST00000390675.2	-	1	701	c.630G>C	c.(628-630)caG>caC	p.Q210H	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	210					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						TACCATGGAGCTGCATCTTCT	0.428																																						ENST00000390675.2																			0				kidney(1)|lung(6)	7						c.(628-630)caG>caC		taste receptor, type 2, member 31							146.0	150.0	149.0					12																	11183305		2203	4300	6503	SO:0001583	missense	259290				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11183305C>G	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.630G>C	12.37:g.11183305C>G	ENSP00000375093:p.Gln210His					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.Q210H	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN			1	701	-			210					P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	c.630G>C	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	.	7.207	0.594731	0.13875	.	.	ENSG00000256436	ENST00000390675	T	0.00966	5.49	2.62	-2.78	0.05859	.	.	.	.	.	T	0.01695	0.0054	M	0.81614	2.55	0.09310	N	1	B	0.24132	0.098	B	0.35688	0.208	T	0.48222	-0.9054	9	0.56958	D	0.05	.	0.2746	0.00236	0.2058:0.2981:0.2036:0.2925	.	210	P59538	T2R31_HUMAN	H	210	ENSP00000375093:Q210H	ENSP00000375093:Q210H	Q	-	3	2	TAS2R31	11074572	0.000000	0.05858	0.005000	0.12908	0.063000	0.16089	-2.259000	0.01178	-0.320000	0.08640	0.194000	0.17425	CAG		0.428	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		4	215	0	0	0	1	0	4	215				
MACF1	23499	broad.mit.edu	37	1	39806219	39806219	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:39806219G>T	ENST00000372915.3	+	38	10363	c.10276G>T	c.(10276-10278)Gag>Tag	p.E3426*	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Nonsense_Mutation_p.E3458*|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000564288.1_Nonsense_Mutation_p.E3421*|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Nonsense_Mutation_p.E1861*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3426					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGTCAGTCAGGAGCTGGAGTG	0.443																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(10261-10263)Gag>Tag		microtubule-actin crosslinking factor 1							84.0	81.0	82.0					1																	39806219		2203	4300	6503	SO:0001587	stop_gained	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39806219G>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.10276G>T	1.37:g.39806219G>T	ENSP00000362006:p.Glu3426*					MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Nonsense_Mutation_p.E3426*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.E1861*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.E3458*|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron	p.E3421*			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		39	11038	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3426					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	ENST00000372915.3	37	c.10261G>T		.	.	.	.	.	.	.	.	.	.	G	45	12.005610	0.99626	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	.	.	.	5.34	4.42	0.53409	.	0.452873	0.20517	N	0.090775	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	16.0972	0.81135	0.0:0.1341:0.8659:0.0	.	.	.	.	X	3426;1861	.	ENSP00000289893:E1861X	E	+	1	0	MACF1	39578806	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	5.750000	0.68712	1.237000	0.43756	0.467000	0.42956	GAG		0.443	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		5	45	1	0	8.12818e-05	1	8.3655e-05	5	45				
GRIA4	2893	broad.mit.edu	37	11	105845108	105845108	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr11:105845108G>C	ENST00000530497.1	+	15	2481	c.2481G>C	c.(2479-2481)ttG>ttC	p.L827F	GRIA4_ENST00000393127.2_Missense_Mutation_p.L827F|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000282499.5_Missense_Mutation_p.L827F|RNU6-277P_ENST00000516272.1_RNA|GRIA4_ENST00000525187.1_Missense_Mutation_p.L827F			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	827					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GCTTGGGCTTGGCAATGCTGG	0.498																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(2479-2481)ttG>ttC		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						167.0	150.0	156.0					11																	105845108		2201	4299	6500	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105845108G>C	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2481G>C	11.37:g.105845108G>C	ENSP00000435775:p.Leu827Phe					GRIA4_ENST00000282499.5_Missense_Mutation_p.L827F|GRIA4_ENST00000525187.1_Missense_Mutation_p.L827F|GRIA4_ENST00000530497.1_Missense_Mutation_p.L827F|GRIA4_ENST00000533094.1_3'UTR	p.L827F	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	16	2927	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	827					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.2481G>C	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730426	0.89390	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.18810	2.31;2.19;2.31;2.19	5.71	5.71	0.89125	.	0.000000	0.53938	D	0.000052	T	0.55513	0.1925	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.91635	0.677;0.999	T	0.61501	-0.7050	10	0.87932	D	0	.	19.8576	0.96767	0.0:0.0:1.0:0.0	.	827;827	P48058;G3V164	GRIA4_HUMAN;.	F	827	ENSP00000282499:L827F;ENSP00000376835:L827F;ENSP00000435775:L827F;ENSP00000432180:L827F	ENSP00000282499:L827F	L	+	3	2	GRIA4	105350318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.985000	0.88162	2.696000	0.92011	0.655000	0.94253	TTG		0.498	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			12	76	0	0	0	1	0	12	76				
XIRP2	129446	broad.mit.edu	37	2	168104131	168104131	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr2:168104131G>A	ENST00000409195.1	+	9	6318	c.6229G>A	c.(6229-6231)Gaa>Aaa	p.E2077K	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2077K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1855K|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1902					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTTAGAGATGAATATATGAG	0.373																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(6229-6231)Gaa>Aaa		xin actin-binding repeat containing 2							66.0	60.0	62.0					2																	168104131		1897	4121	6018	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104131G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6229G>A	2.37:g.168104131G>A	ENSP00000386840:p.Glu2077Lys					XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2077K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1855K	p.E2077K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	6318	+			1902					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.6229G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	7.650	0.682667	0.14907	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.21543	2.0;2.0;2.0	5.83	3.05	0.35203	.	0.869072	0.10176	N	0.706499	T	0.11965	0.0291	N	0.22421	0.69	0.09310	N	1	B;B;B	0.15141	0.001;0.012;0.012	B;B;B	0.16722	0.001;0.016;0.016	T	0.39981	-0.9587	10	0.20046	T	0.44	-0.34	2.7034	0.05155	0.1578:0.1379:0.5465:0.1578	.	1902;1902;1855	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	2077;2077;1855	ENSP00000386840:E2077K;ENSP00000295237:E2077K;ENSP00000387255:E1855K	ENSP00000295237:E2077K	E	+	1	0	XIRP2	167812377	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	-0.132000	0.10467	0.378000	0.24764	0.650000	0.86243	GAA		0.373	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		4	58	0	0	0	1	0	4	58				
PLA2G4B	100137049	broad.mit.edu	37	15	42133427	42133427	+	Splice_Site	SNP	A	A	G			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr15:42133427A>G	ENST00000452633.1	+	7	744		c.e7-1		JMJD7-PLA2G4B_ENST00000342159.4_Splice_Site|JMJD7-PLA2G4B_ENST00000382448.4_Splice_Site|PLA2G4B_ENST00000542534.2_Splice_Site|PLA2G4B_ENST00000458483.1_Splice_Site			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GGCTCTTTCCAGGGCTGACCG	0.657																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.e11-1									85.0	101.0	96.0					15																	42133427		2203	4300	6503	SO:0001630	splice_region_variant	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42133427A>G	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.393-1A>G	15.37:g.42133427A>G						JMJD7-PLA2G4B_ENST00000458483.1_Splice_Site|PLA2G4B_ENST00000452633.1_Splice_Site|JMJD7-PLA2G4B_ENST00000342159.4_Splice_Site		NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			11	1094	+								B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Splice_Site	SNP	ENST00000452633.1	37		CCDS45241.1	.	.	.	.	.	.	.	.	.	.	a	12.37	1.917430	0.33815	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1161	0.42591	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	JMJD7-PLA2G4B;PLA2G4B	39920719	1.000000	0.71417	0.619000	0.29118	0.035000	0.12851	4.372000	0.59530	2.164000	0.68074	0.533000	0.62120	.		0.657	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633	Intron	5	132	0	0	0	1	0	5	132				
LAMA5	3911	broad.mit.edu	37	20	60895805	60895805	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr20:60895805G>A	ENST00000252999.3	-	49	6704	c.6638C>T	c.(6637-6639)gCt>gTt	p.A2213V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2213	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTGCAGGTCAGCGATGGAGGC	0.687																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(6637-6639)gCt>gTt		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						42.0	37.0	39.0					20																	60895805		2183	4278	6461	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60895805G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6638C>T	20.37:g.60895805G>A	ENSP00000252999:p.Ala2213Val						p.A2213V	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		49	6704	-	Breast(26;1.57e-08)		2213			Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.6638C>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	-	6.599	0.478916	0.12581	.	.	ENSG00000130702	ENST00000252999	T	0.10288	2.89	4.23	2.27	0.28462	Laminin I (1);	0.565431	0.18257	N	0.146776	T	0.05640	0.0148	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.34153	-0.9840	10	0.32370	T	0.25	.	5.995	0.19489	0.2336:0.0:0.6203:0.146	.	2213	O15230	LAMA5_HUMAN	V	2213	ENSP00000252999:A2213V	ENSP00000252999:A2213V	A	-	2	0	LAMA5	60329200	0.003000	0.15002	0.002000	0.10522	0.182000	0.23217	1.086000	0.30853	1.129000	0.42072	0.537000	0.68136	GCT		0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		5	22	0	0	0	1	0	5	22				
TMEM131	23505	broad.mit.edu	37	2	98421912	98421912	+	Silent	SNP	A	A	G			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr2:98421912A>G	ENST00000186436.5	-	21	2439	c.2211T>C	c.(2209-2211)atT>atC	p.I737I		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	737						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AAATGTTTGCAATCTATAAAG	0.373																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(2209-2211)atT>atC		transmembrane protein 131							75.0	77.0	76.0					2																	98421912		1880	4114	5994	SO:0001819	synonymous_variant	23505					integral to membrane		g.chr2:98421912A>G	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2211T>C	2.37:g.98421912A>G							p.I737I	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			21	2439	-			737						Silent	SNP	ENST00000186436.5	37	c.2211T>C	CCDS46368.1																																																																																				0.373	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		5	56	0	0	0	1	0	5	56				
MMP21	118856	broad.mit.edu	37	10	127458964	127458964	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr10:127458964G>T	ENST00000368808.3	-	5	1175	c.1176C>A	c.(1174-1176)caC>caA	p.H392Q		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	392					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	CATCTATGTTGTGTGTTGGGA	0.418																																						ENST00000368808.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(1174-1176)caC>caA		matrix metallopeptidase 21							236.0	222.0	227.0					10																	127458964		2203	4300	6503	SO:0001583	missense	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127458964G>T	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.1176C>A	10.37:g.127458964G>T	ENSP00000357798:p.His392Gln						p.H392Q	NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN			5	1175	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	392					Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	c.1176C>A	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	G	0.236	-1.016942	0.02078	.	.	ENSG00000154485	ENST00000368808	T	0.07216	3.21	5.62	-11.2	0.00127	Hemopexin/matrixin (2);	0.510905	0.21518	N	0.073273	T	0.01905	0.0060	N	0.02403	-0.565	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.35599	-0.9782	10	0.17832	T	0.49	-20.476	9.3156	0.37932	0.0786:0.523:0.2866:0.1117	.	392	Q8N119	MMP21_HUMAN	Q	392	ENSP00000357798:H392Q	ENSP00000357798:H392Q	H	-	3	2	MMP21	127448954	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.504000	0.00964	-1.870000	0.01139	-1.193000	0.01689	CAC		0.418	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			11	114	1	0	1.61879e-10	1	1.69074e-10	11	114				
MLLT3	4300	broad.mit.edu	37	9	20414313	20414313	+	Silent	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr9:20414313G>A	ENST00000380338.4	-	5	817	c.531C>T	c.(529-531)agC>agT	p.S177S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S174S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	177	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(529-531)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							22.0	31.0	28.0					9																	20414313		2066	3973	6039	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414313G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.531C>T	9.37:g.20414313G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S174S	p.S177S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	817	-			177			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.531C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	113	0	0	0	1	0	5	113				
FAM135B	51059	broad.mit.edu	37	8	139380215	139380215	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr8:139380215T>C	ENST00000395297.1	-	2	182	c.12A>G	c.(10-12)atA>atG	p.I4M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	4										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCGTTCCTTGTATTTCAGACA	0.368										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(10-12)atA>atG		family with sequence similarity 135, member B							149.0	141.0	143.0					8																	139380215		1872	4105	5977	SO:0001583	missense	51059							g.chr8:139380215T>C	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.12A>G	8.37:g.139380215T>C	ENSP00000378710:p.Ile4Met	HNSCC(54;0.14)					p.I4M	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		2	182	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		4					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.12A>G	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	14.13	2.444061	0.43429	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.17054	2.3	5.54	1.77	0.24775	.	0.118551	0.31963	U	0.006795	T	0.08846	0.0219	N	0.19112	0.55	0.21579	N	0.999631	B	0.23540	0.087	B	0.21151	0.033	T	0.22695	-1.0209	10	0.72032	D	0.01	-4.3852	3.1472	0.06475	0.1304:0.0741:0.2705:0.525	.	4	Q49AJ0	F135B_HUMAN	M	4	ENSP00000378710:I4M	ENSP00000160713:I4M	I	-	3	3	FAM135B	139449397	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.033000	0.30191	0.435000	0.26365	0.459000	0.35465	ATA		0.368	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		8	75	0	0	0	1	0	8	75				
CTNND2	1501	broad.mit.edu	37	5	11117603	11117603	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr5:11117603C>T	ENST00000304623.8	-	13	2425	c.2236G>A	c.(2236-2238)Gtg>Atg	p.V746M	CTNND2_ENST00000359640.2_Missense_Mutation_p.V746M|CTNND2_ENST00000511377.1_Missense_Mutation_p.V655M|CTNND2_ENST00000503622.1_Missense_Mutation_p.V409M|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.V313M	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	746					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GACTGGATCACGTACAGCAAG	0.517																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(2236-2238)Gtg>Atg		catenin (cadherin-associated protein), delta 2							204.0	171.0	182.0					5																	11117603		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11117603C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2236G>A	5.37:g.11117603C>T	ENSP00000307134:p.Val746Met					CTNND2_ENST00000511377.1_Missense_Mutation_p.V655M|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.V409M|CTNND2_ENST00000458100.2_Missense_Mutation_p.V313M|CTNND2_ENST00000359640.2_Missense_Mutation_p.V746M	p.V746M	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			13	2425	-			746					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2236G>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995624	0.93167	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89908	0.6851	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.991	D	0.90341	0.4359	10	0.72032	D	0.01	-19.4998	19.6126	0.95616	0.0:1.0:0.0:0.0	.	409;313;746	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	M	746;746;655;313;409	ENSP00000307134:V746M;ENSP00000352661:V746M;ENSP00000426510:V655M;ENSP00000391155:V313M;ENSP00000426887:V409M	ENSP00000307134:V746M	V	-	1	0	CTNND2	11170603	1.000000	0.71417	0.996000	0.52242	0.938000	0.57974	7.407000	0.80029	2.647000	0.89833	0.650000	0.86243	GTG		0.517	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		37	136	0	0	0	1	0	37	136				
ERAP1	51752	broad.mit.edu	37	5	96121525	96121525	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr5:96121525G>A	ENST00000443439.2	-	13	1976	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V	ERAP1_ENST00000296754.3_Missense_Mutation_p.A637V|ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA|CTD-2260A17.1_ENST00000602972.1_RNA	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	637					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		AATGAGACTCGCCCGATCATT	0.418																																						ENST00000296754.3																			0				endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19						c.(1909-1911)gCg>gTg		endoplasmic reticulum aminopeptidase 1							152.0	120.0	130.0					5																	96121525		2203	4300	6503	SO:0001583	missense	51752				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding	g.chr5:96121525G>A	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.1910C>T	5.37:g.96121525G>A	ENSP00000406304:p.Ala637Val					ERAP1_ENST00000443439.2_Missense_Mutation_p.A637V|CTD-2260A17.1_ENST00000602972.1_RNA|ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA	p.A637V	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)	13	2167	-		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)	637					O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	37	c.1910C>T	CCDS47250.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749613	0.89753	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.06528	3.29;3.29	5.77	5.77	0.91146	.	0.049931	0.85682	D	0.000000	T	0.26268	0.0641	M	0.76838	2.35	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;D;P	0.63597	0.871;0.916;0.896	T	0.00143	-1.1996	10	0.45353	T	0.12	.	19.5934	0.95525	0.0:0.0:1.0:0.0	.	637;637;637	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	V	637	ENSP00000296754:A637V;ENSP00000406304:A637V	ENSP00000296754:A637V	A	-	2	0	ERAP1	96147281	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	9.324000	0.96373	2.724000	0.93272	0.561000	0.74099	GCG		0.418	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		4	60	0	0	0	1	0	4	60				
SLC8A3	6547	broad.mit.edu	37	14	70634946	70634946	+	Missense_Mutation	SNP	G	G	A	rs141504535		TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr14:70634946G>A	ENST00000381269.2	-	2	947	c.194C>T	c.(193-195)cCg>cTg	p.P65L	SLC8A3_ENST00000357887.3_Missense_Mutation_p.P65L|SLC8A3_ENST00000356921.2_Missense_Mutation_p.P65L|SLC8A3_ENST00000534137.1_Missense_Mutation_p.P65L|SLC8A3_ENST00000528359.1_Missense_Mutation_p.P65L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	65					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGGGTTCTCCGGGTACCAGAT	0.552																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(193-195)cCg>cTg		solute carrier family 8 (sodium/calcium exchanger), member 3		G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	70.0	60.0	64.0		194,194,194,194	4.8	1.0	14	dbSNP_134	64	0,8600		0,0,4300	no	missense,missense,missense,missense	SLC8A3	NM_033262.3,NM_058240.2,NM_182932.1,NM_183002.1	98,98,98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	65/926,65/925,65/922,65/928	70634946	1,13005	2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634946G>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.194C>T	14.37:g.70634946G>A	ENSP00000370669:p.Pro65Leu					SLC8A3_ENST00000534137.1_Missense_Mutation_p.P65L|SLC8A3_ENST00000356921.2_Missense_Mutation_p.P65L|SLC8A3_ENST00000357887.3_Missense_Mutation_p.P65L|SLC8A3_ENST00000528359.1_Missense_Mutation_p.P65L	p.P65L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	947	-			65					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.194C>T	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.450866	0.63290	2.27E-4	0.0	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.46819	1.0;0.86;1.0;0.94;1.0	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.72236	0.3435	M	0.83012	2.62	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.988;0.992	T	0.77395	-0.2604	10	0.87932	D	0	.	18.1311	0.89602	0.0:0.0:1.0:0.0	.	65;65;65;65	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	L	65	ENSP00000349392:P65L;ENSP00000370669:P65L;ENSP00000350560:P65L;ENSP00000436688:P65L;ENSP00000433531:P65L	ENSP00000349392:P65L	P	-	2	0	SLC8A3	69704699	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.648000	0.98483	2.509000	0.84616	0.563000	0.77884	CCG		0.552	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			9	39	0	0	0	1	0	9	39				
ANKRD16	54522	broad.mit.edu	37	10	5925970	5925970	+	Missense_Mutation	SNP	G	G	A	rs530793145		TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr10:5925970G>A	ENST00000380094.5	-	4	1192	c.649C>T	c.(649-651)Cac>Tac	p.H217Y	ANKRD16_ENST00000191063.8_Missense_Mutation_p.H217Y|ANKRD16_ENST00000380092.4_Missense_Mutation_p.H217Y	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	217										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						ACGTCGATGTGCCCACACTGG	0.463													G|||	1	0.000199681	0.0	0.0014	5008	,	,		22700	0.0		0.0	False		,,,				2504	0.0					ENST00000380094.5																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						c.(649-651)Cac>Tac		ankyrin repeat domain 16							136.0	110.0	119.0					10																	5925970		2203	4300	6503	SO:0001583	missense	54522							g.chr10:5925970G>A	AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"""Ankyrin repeat domain containing"""	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.649C>T	10.37:g.5925970G>A	ENSP00000369436:p.His217Tyr					ANKRD16_ENST00000191063.8_Missense_Mutation_p.H217Y|ANKRD16_ENST00000380092.4_Missense_Mutation_p.H217Y	p.H217Y	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN			4	1192	-			217					A6NEF0|F8WEI4|Q9NT01	Missense_Mutation	SNP	ENST00000380094.5	37	c.649C>T	CCDS31136.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688625	0.48097	.	.	ENSG00000134461	ENST00000380094;ENST00000380092;ENST00000191063	T;T;T	0.66995	-0.24;-0.24;-0.24	4.84	4.84	0.62591	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.79992	0.4542	M	0.69185	2.1	0.58432	D	0.999994	D;D;D	0.89917	0.957;1.0;1.0	P;D;D	0.79784	0.615;0.993;0.982	T	0.82030	-0.0659	10	0.62326	D	0.03	-16.3465	15.777	0.78228	0.0:0.0:1.0:0.0	.	217;217;217	Q6P6B7;C9JP28;F8WEI4	ANR16_HUMAN;.;.	Y	217	ENSP00000369436:H217Y;ENSP00000369434:H217Y;ENSP00000352361:H217Y	ENSP00000352361:H217Y	H	-	1	0	ANKRD16	5965976	1.000000	0.71417	0.120000	0.21714	0.090000	0.18270	7.896000	0.87350	2.246000	0.74042	0.306000	0.20318	CAC		0.463	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046611.2	XM_166138		6	48	0	0	0	1	0	6	48				
TRIO	7204	broad.mit.edu	37	5	14492732	14492732	+	Silent	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr5:14492732G>A	ENST00000344204.4	+	49	7713	c.7689G>A	c.(7687-7689)acG>acA	p.T2563T	TRIO_ENST00000344135.5_Silent_p.T62T|TRIO_ENST00000537187.1_Silent_p.T2387T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2563	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.		T -> M. {ECO:0000269|PubMed:23033978}.		apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACGATTACACGGCAGTGAAGG	0.522																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(7687-7689)acG>acA		trio Rho guanine nucleotide exchange factor							111.0	88.0	96.0					5																	14492732		2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14492732G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.7689G>A	5.37:g.14492732G>A						TRIO_ENST00000537187.1_Silent_p.T2387T|TRIO_ENST00000344135.5_Silent_p.T62T	p.T2563T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			49	7713	+	Lung NSC(4;0.000742)		2563			SH3 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.7689G>A	CCDS3883.1																																																																																				0.522	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		5	41	0	0	0	1	0	5	41				
SOX3	6658	broad.mit.edu	37	X	139586659	139586659	+	Silent	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chrX:139586659G>A	ENST00000370536.2	-	1	566	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	189					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					TGGCCTCGTCGATGAATGGTC	0.567																																						ENST00000370536.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10						c.(565-567)atC>atT		SRY (sex determining region Y)-box 3							76.0	69.0	71.0					X																	139586659		2203	4300	6503	SO:0001819	synonymous_variant	6658				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139586659G>A		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.567C>T	X.37:g.139586659G>A							p.I189I	NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN			1	566	-	Acute lymphoblastic leukemia(192;7.65e-05)		189					P35714|Q5JWI3|Q9NP49	Silent	SNP	ENST00000370536.2	37	c.567C>T	CCDS14669.1																																																																																				0.567	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			9	38	0	0	0	1	0	9	38				
OVGP1	5016	broad.mit.edu	37	1	111965617	111965617	+	Silent	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:111965617C>T	ENST00000369732.3	-	6	595	c.540G>A	c.(538-540)ctG>ctA	p.L180L	OVGP1_ENST00000481495.1_5'UTR|OVGP1_ENST00000540696.1_Silent_p.L120L	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	180					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CAGCAGACAGCAGCAGCCTCG	0.537																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(538-540)ctG>ctA		oviductal glycoprotein 1, 120kDa							147.0	142.0	144.0					1																	111965617		2203	4300	6503	SO:0001819	synonymous_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111965617C>T	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.540G>A	1.37:g.111965617C>T						OVGP1_ENST00000540696.1_Silent_p.L120L|OVGP1_ENST00000481495.1_5'UTR	p.L180L	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	6	595	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	180					A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	c.540G>A	CCDS834.1																																																																																				0.537	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		16	180	0	0	0	1	0	16	180				
C19orf40	91442	broad.mit.edu	37	19	33464993	33464993	+	Missense_Mutation	SNP	G	G	A	rs562557952		TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr19:33464993G>A	ENST00000588258.1	+	4	381	c.271G>A	c.(271-273)Gtt>Att	p.V91I	CEP89_ENST00000591863.1_5'Flank|CEP89_ENST00000305768.5_5'Flank|C19orf40_ENST00000589646.1_De_novo_Start_OutOfFrame|C19orf40_ENST00000590281.1_Missense_Mutation_p.V91I|CEP89_ENST00000590597.2_5'Flank|C19orf40_ENST00000590179.1_De_novo_Start_OutOfFrame	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	91					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					AATTGTAGTCGTTGAAAAAAC	0.418								Direct reversal of damage																														ENST00000589646.1																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7							Direct reversal of damage	chromosome 19 open reading frame 40							77.0	73.0	74.0					19																	33464993		2203	4300	6503	SO:0001583	missense	91442				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr19:33464993G>A	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 24kDa"""	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.271G>A	19.37:g.33464993G>A	ENSP00000466121:p.Val91Ile					C19orf40_ENST00000588258.1_Missense_Mutation_p.V91I|C19orf40_ENST00000590179.1_De_novo_Start_OutOfFrame|C19orf40_ENST00000590281.1_Missense_Mutation_p.V91I				Q9BTP7	FAP24_HUMAN			0	291	+	Esophageal squamous(110;0.137)							B3KY46|Q8WUJ7|Q96FX6	Translation_Start_Site	SNP	ENST00000588258.1	37		CCDS12426.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379589	0.61845	.	.	ENSG00000131944	ENST00000254262	.	.	.	4.81	3.75	0.43078	.	0.056799	0.64402	D	0.000001	T	0.44435	0.1293	M	0.69823	2.125	0.35104	D	0.76554	P	0.52316	0.952	B	0.35413	0.202	T	0.58578	-0.7612	9	0.11485	T	0.65	-8.0328	14.2423	0.65966	0.0:0.0:0.8495:0.1505	.	91	Q9BTP7	FAP24_HUMAN	I	91	.	ENSP00000254262:V91I	V	+	1	0	C19orf40	38156833	1.000000	0.71417	0.773000	0.31616	0.644000	0.38419	9.004000	0.93583	1.125000	0.41998	0.467000	0.42956	GTT		0.418	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	NM_152266		7	85	0	0	0	1	0	7	85				
RSPH1	89765	broad.mit.edu	37	21	43912900	43912900	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr21:43912900G>A	ENST00000291536.3	-	3	409	c.242C>T	c.(241-243)aCt>aTt	p.T81I	RSPH1_ENST00000398352.3_Missense_Mutation_p.T43I	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	81					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						ATATATAAAAGTGCCTTGACC	0.323																																					Esophageal Squamous(23;63 706 6286 10288 12913)	ENST00000291536.3																			0				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						c.(241-243)aCt>aTt		radial spoke head 1 homolog (Chlamydomonas)							155.0	156.0	155.0					21																	43912900		2203	4300	6503	SO:0001583	missense	89765				meiosis	cytosol|nucleus		g.chr21:43912900G>A	AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.242C>T	21.37:g.43912900G>A	ENSP00000291536:p.Thr81Ile					RSPH1_ENST00000398352.3_Missense_Mutation_p.T43I	p.T81I	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN			3	409	-			81					A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP	ENST00000291536.3	37	c.242C>T	CCDS13688.1	.	.	.	.	.	.	.	.	.	.	G	8.373	0.835843	0.16820	.	.	ENSG00000160188	ENST00000291536;ENST00000398352	T;T	0.56776	0.44;0.44	4.47	1.6	0.23607	.	0.189830	0.30901	N	0.008657	T	0.31857	0.0810	N	0.16066	0.365	0.28276	N	0.924198	B	0.15141	0.012	B	0.16722	0.016	T	0.18304	-1.0341	10	0.28530	T	0.3	.	10.4326	0.44417	0.2967:0.0:0.7033:0.0	.	81	Q8WYR4	RSPH1_HUMAN	I	81;43	ENSP00000291536:T81I;ENSP00000381395:T43I	ENSP00000291536:T81I	T	-	2	0	RSPH1	42785969	0.127000	0.22367	0.568000	0.28447	0.958000	0.62258	0.351000	0.20096	0.448000	0.26722	-0.379000	0.06801	ACT		0.323	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1			6	128	0	0	0	1	0	6	128				
IGSF11	152404	broad.mit.edu	37	3	118621617	118621617	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:118621617G>C	ENST00000393775.2	-	7	1351	c.1046C>G	c.(1045-1047)tCa>tGa	p.S349*	IGSF11_ENST00000441144.2_Nonsense_Mutation_p.S324*|IGSF11_ENST00000491903.1_Nonsense_Mutation_p.S321*|IGSF11_ENST00000489689.1_Nonsense_Mutation_p.S325*|IGSF11_ENST00000425327.2_Nonsense_Mutation_p.S348*|IGSF11_ENST00000354673.2_Nonsense_Mutation_p.S348*	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	349					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCATTGCCTGAGTGGAAAGA	0.478																																						ENST00000354673.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1042-1044)tCa>tGa		immunoglobulin superfamily, member 11							155.0	153.0	154.0					3																	118621617		2203	4300	6503	SO:0001587	stop_gained	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118621617G>C	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.1046C>G	3.37:g.118621617G>C	ENSP00000377370:p.Ser349*					IGSF11_ENST00000489689.1_Nonsense_Mutation_p.S325*|IGSF11_ENST00000491903.1_Nonsense_Mutation_p.S321*|IGSF11_ENST00000425327.2_Nonsense_Mutation_p.S348*|IGSF11_ENST00000441144.2_Nonsense_Mutation_p.S324*|IGSF11_ENST00000393775.2_Nonsense_Mutation_p.S349*	p.S348*	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN			9	1423	-			349					C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Nonsense_Mutation	SNP	ENST00000393775.2	37	c.1043C>G	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339836	0.81911	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	.	.	.	4.9	4.9	0.64082	.	0.614368	0.16979	N	0.191781	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	17.2505	0.87041	0.0:0.0:1.0:0.0	.	.	.	.	X	348;349;325;348;324;321	.	ENSP00000346700:S348X	S	-	2	0	IGSF11	120104307	1.000000	0.71417	0.931000	0.37212	0.276000	0.26787	5.048000	0.64238	2.560000	0.86352	0.655000	0.94253	TCA		0.478	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			6	198	0	0	0	1	0	6	198				
SLC3A1	6519	broad.mit.edu	37	2	44547744	44547744	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr2:44547744C>T	ENST00000260649.6	+	10	2100	c.2024C>T	c.(2023-2025)tCc>tTc	p.S675F	PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000541738.1_3'UTR|SLC3A1_ENST00000409740.3_Missense_Mutation_p.S306F|SLC3A1_ENST00000409380.1_Missense_Mutation_p.S397F	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	675					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GCATGCTATTCCAGTGTACTG	0.418																																						ENST00000260649.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(2023-2025)tCc>tTc		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)						82.0	69.0	73.0					2																	44547744		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44547744C>T		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.2024C>T	2.37:g.44547744C>T	ENSP00000260649:p.Ser675Phe					SLC3A1_ENST00000409740.3_Missense_Mutation_p.S306F|SLC3A1_ENST00000409380.1_Missense_Mutation_p.S397F|PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409957.1_3'UTR	p.S675F	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN			10	2100	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	675					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.2024C>T	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571479	0.86542	.	.	ENSG00000138079	ENST00000260649;ENST00000540334;ENST00000409380;ENST00000409740	D;D;D	0.99176	-5.52;-4.91;-4.57	5.99	5.99	0.97316	.	0.131918	0.56097	D	0.000025	D	0.99048	0.9674	M	0.78223	2.4	0.80722	D	1	D	0.57899	0.981	P	0.54706	0.759	D	0.99831	1.1054	10	0.72032	D	0.01	-27.5825	20.4777	0.99188	0.0:1.0:0.0:0.0	.	675	Q07837	SLC31_HUMAN	F	675;611;397;306	ENSP00000260649:S675F;ENSP00000386709:S397F;ENSP00000386677:S306F	ENSP00000260649:S675F	S	+	2	0	SLC3A1	44401248	1.000000	0.71417	0.974000	0.42286	0.828000	0.46876	2.717000	0.47227	2.840000	0.97914	0.655000	0.94253	TCC		0.418	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		9	68	0	0	0	1	0	9	68				
IL37	27178	broad.mit.edu	37	2	113676262	113676262	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr2:113676262G>A	ENST00000263326.3	+	5	575	c.533G>A	c.(532-534)tGc>tAc	p.C178Y	IL37_ENST00000311328.2_Missense_Mutation_p.C152Y|IL37_ENST00000349806.3_Missense_Mutation_p.C117Y|IL37_ENST00000353225.3_Missense_Mutation_p.C138Y|IL37_ENST00000352179.3_Missense_Mutation_p.C157Y	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	178					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						TGGTTCATCTGCACCTCCTGC	0.493																																						ENST00000263326.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						c.(532-534)tGc>tAc		interleukin 37							70.0	76.0	74.0					2																	113676262		2203	4300	6503	SO:0001583	missense	27178				immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding	g.chr2:113676262G>A	AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"""Interleukins and interleukin receptors"""	15563	protein-coding gene	gene with protein product	"""interleukin 1, zeta"", ""interleukin-1 homolog 4"", ""interleukin-1-related protein"""	605510	"""interleukin 1 family, member 7 (zeta)"""	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.533G>A	2.37:g.113676262G>A	ENSP00000263326:p.Cys178Tyr					IL37_ENST00000352179.3_Missense_Mutation_p.C157Y|IL37_ENST00000349806.3_Missense_Mutation_p.C117Y|IL37_ENST00000311328.2_Missense_Mutation_p.C152Y|IL37_ENST00000353225.3_Missense_Mutation_p.C138Y	p.C178Y	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN			5	575	+			178					B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Missense_Mutation	SNP	ENST00000263326.3	37	c.533G>A	CCDS2103.1	.	.	.	.	.	.	.	.	.	.	g	13.89	2.371241	0.42003	.	.	ENSG00000125571	ENST00000263326;ENST00000352179;ENST00000349806;ENST00000353225;ENST00000311328	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	3.81	2.93	0.34026	.	0.171581	0.28332	N	0.015731	T	0.23611	0.0571	M	0.73962	2.25	0.09310	N	1	P;P;B;B;B	0.47191	0.891;0.627;0.22;0.22;0.261	B;B;B;B;B	0.41510	0.359;0.14;0.093;0.093;0.151	T	0.19910	-1.0291	10	0.87932	D	0	-5.1174	7.1996	0.25873	0.1264:0.0:0.8736:0.0	.	152;117;138;157;178	Q9NZH6-2;Q9NZH6-5;Q9NZH6-3;Q9NZH6-4;Q9NZH6	.;.;.;.;IL37_HUMAN	Y	178;157;117;138;152	ENSP00000263326:C178Y;ENSP00000263327:C157Y;ENSP00000263328:C117Y;ENSP00000309208:C138Y;ENSP00000309883:C152Y	ENSP00000263326:C178Y	C	+	2	0	IL37	113392733	0.001000	0.12720	0.139000	0.22197	0.199000	0.23934	-0.177000	0.09796	0.943000	0.37553	0.556000	0.70494	TGC		0.493	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254126.1	NM_014439		4	69	0	0	0	1	0	4	69				
ZZEF1	23140	broad.mit.edu	37	17	3920783	3920783	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr17:3920783G>A	ENST00000381638.2	-	48	8007	c.7883C>T	c.(7882-7884)gCc>gTc	p.A2628V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2628							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGGCCACTCGGCGAGCAGGGA	0.582																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(7882-7884)gCc>gTc		zinc finger, ZZ-type with EF-hand domain 1							57.0	50.0	53.0					17																	3920783		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3920783G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7883C>T	17.37:g.3920783G>A	ENSP00000371051:p.Ala2628Val						p.A2628V	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			48	8007	-			2628					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.7883C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834703	0.71373	.	.	ENSG00000074755	ENST00000381638	T	0.29397	1.57	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.48169	0.1485	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.48091	-0.9065	10	0.87932	D	0	-12.6512	19.4618	0.94920	0.0:0.0:1.0:0.0	.	2628	O43149	ZZEF1_HUMAN	V	2628	ENSP00000371051:A2628V	ENSP00000371051:A2628V	A	-	2	0	ZZEF1	3867532	1.000000	0.71417	0.248000	0.24265	0.797000	0.45037	9.411000	0.97342	2.598000	0.87819	0.650000	0.86243	GCC		0.582	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		4	38	0	0	0	1	0	4	38				
PWWP2B	170394	broad.mit.edu	37	10	134218307	134218307	+	Silent	SNP	A	A	C			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr10:134218307A>C	ENST00000305233.5	+	2	362	c.303A>C	c.(301-303)ccA>ccC	p.P101P	PWWP2B_ENST00000368609.4_Silent_p.P101P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	101	Pro-rich.							p.P101P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCCCCGAGCCACCCCCGCCCC	0.756																																						ENST00000305233.5																			1	Substitution - coding silent(1)	p.P101P(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(301-303)ccA>ccC		PWWP domain containing 2B																																				SO:0001819	synonymous_variant	170394							g.chr10:134218307A>C	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.303A>C	10.37:g.134218307A>C						PWWP2B_ENST00000368609.4_Silent_p.P101P	p.P101P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	362	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	101			Pro-rich.		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	c.303A>C	CCDS7667.2																																																																																				0.756	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		6	11	0	0	0	1	0	6	11				
BRPF3	27154	broad.mit.edu	37	6	36182028	36182028	+	Missense_Mutation	SNP	G	G	A	rs566788021		TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr6:36182028G>A	ENST00000357641.6	+	8	3107	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.E952K|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000534694.1_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	952					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GGAGAATGGCGAGGACCATGG	0.602																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(2854-2856)Gag>Aag		bromodomain and PHD finger containing, 3							42.0	45.0	44.0					6																	36182028		2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36182028G>A	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2854G>A	6.37:g.36182028G>A	ENSP00000350267:p.Glu952Lys					BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.E952K	p.E952K	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			8	3107	+			952					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.2854G>A	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816602	0.50633	.	.	ENSG00000096070	ENST00000357641;ENST00000534400;ENST00000394572	T;T	0.18174	2.4;2.23	5.71	4.84	0.62591	.	0.455087	0.24014	N	0.042348	T	0.14485	0.0350	L	0.45581	1.43	0.80722	D	1	D	0.69078	0.997	P	0.59012	0.85	T	0.06445	-1.0826	10	0.11182	T	0.66	.	12.8792	0.58008	0.0757:0.0:0.9243:0.0	.	952	Q9ULD4	BRPF3_HUMAN	K	952;952;366	ENSP00000350267:E952K;ENSP00000436504:E952K	ENSP00000350267:E952K	E	+	1	0	BRPF3	36290006	1.000000	0.71417	0.979000	0.43373	0.603000	0.37013	5.480000	0.66820	1.402000	0.46780	0.455000	0.32223	GAG		0.602	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		9	79	0	0	0	1	0	9	79				
ZNF318	24149	broad.mit.edu	37	6	43305922	43305922	+	Silent	SNP	G	G	C			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr6:43305922G>C	ENST00000361428.2	-	10	5891	c.5814C>G	c.(5812-5814)ctC>ctG	p.L1938L	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1938					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCTTGAGTTTGAGACTTCTGT	0.438																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(5812-5814)ctC>ctG		zinc finger protein 318							80.0	81.0	81.0					6																	43305922		2203	4300	6503	SO:0001819	synonymous_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305922G>C	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5814C>G	6.37:g.43305922G>C						ZNF318_ENST00000318149.3_Intron	p.L1938L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	5891	-			1938					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	c.5814C>G	CCDS4895.2																																																																																				0.438	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		9	185	0	0	0	1	0	9	185				
LRRN3	54674	broad.mit.edu	37	7	110763381	110763381	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr7:110763381G>A	ENST00000422987.3	+	2	1384	c.553G>A	c.(553-555)Gat>Aat	p.D185N	IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.D185N|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.D185N|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	185					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TAAGTGGTTTGATGCTCTTCC	0.378																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(553-555)Gat>Aat		leucine rich repeat neuronal 3							68.0	71.0	70.0					7																	110763381		2203	4299	6502	SO:0001583	missense	54674					integral to membrane		g.chr7:110763381G>A	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.553G>A	7.37:g.110763381G>A	ENSP00000412417:p.Asp185Asn					LRRN3_ENST00000308478.5_Missense_Mutation_p.D185N|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.D185N|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron	p.D185N	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1599	+			185					O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.553G>A	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878549	0.51801	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.24350	1.86;1.86;1.86;4.33	6.16	6.16	0.99307	.	0.298040	0.28284	N	0.015903	T	0.29945	0.0749	L	0.39898	1.24	0.44570	D	0.997532	B	0.25048	0.117	B	0.30716	0.119	T	0.02668	-1.1126	10	0.51188	T	0.08	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	185	Q9H3W5	LRRN3_HUMAN	N	185	ENSP00000312001:D185N;ENSP00000397312:D185N;ENSP00000412417:D185N;ENSP00000407927:D185N	ENSP00000312001:D185N	D	+	1	0	LRRN3	110550617	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.884000	0.87274	2.937000	0.99478	0.650000	0.86243	GAT		0.378	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		8	90	0	0	0	1	0	8	90				
VPS13B	157680	broad.mit.edu	37	8	100523442	100523442	+	Silent	SNP	G	G	A			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr8:100523442G>A	ENST00000358544.2	+	29	4521	c.4410G>A	c.(4408-4410)gaG>gaA	p.E1470E	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.E1445E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1470					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAGAAATGAGCGAAGAAGTT	0.373																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(4408-4410)gaG>gaA		vacuolar protein sorting 13 homolog B (yeast)							136.0	137.0	136.0					8																	100523442		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100523442G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4410G>A	8.37:g.100523442G>A						VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.E1445E	p.E1470E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		29	4521	+	Breast(36;3.73e-07)		1470					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.4410G>A	CCDS6280.1																																																																																				0.373	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		21	104	0	0	0	1	0	21	104				
LMNA	4000	broad.mit.edu	37	1	156100425	156100425	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:156100425G>C	ENST00000368300.4	+	2	586	c.374G>C	c.(373-375)gGt>gCt	p.G125A	LMNA_ENST00000368301.2_Missense_Mutation_p.G125A|LMNA_ENST00000347559.2_Missense_Mutation_p.G125A|LMNA_ENST00000368299.3_Missense_Mutation_p.G125A|LMNA_ENST00000361308.4_Missense_Mutation_p.G125A|LMNA_ENST00000473598.2_Missense_Mutation_p.G26A|LMNA_ENST00000448611.2_Missense_Mutation_p.G13A|LMNA_ENST00000368297.1_Missense_Mutation_p.G44A|LMNA_ENST00000392353.3_Missense_Mutation_p.G44A	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	125	Coil 1B.|Interaction with MLIP.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					AAGAAGGAGGGTGACCTGATA	0.567									Werner syndrome;Hutchinson-Gilford Progeria Syndrome		OREG0013866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368300.4																			0				NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	GRCh37	CM078079	LMNA	M		c.(373-375)gGt>gCt		lamin A/C							47.0	46.0	46.0					1																	156100425		2203	4300	6503	SO:0001583	missense	4000	Werner syndrome;Hutchinson-Gilford Progeria Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr1:156100425G>C	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.374G>C	1.37:g.156100425G>C	ENSP00000357283:p.Gly125Ala		OREG0013866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1775	LMNA_ENST00000448611.2_Missense_Mutation_p.G13A|LMNA_ENST00000368301.2_Missense_Mutation_p.G125A|LMNA_ENST00000473598.2_Missense_Mutation_p.G26A|LMNA_ENST00000392353.3_Missense_Mutation_p.G44A|LMNA_ENST00000368297.1_Missense_Mutation_p.G44A|LMNA_ENST00000368299.3_Missense_Mutation_p.G125A|LMNA_ENST00000361308.4_Missense_Mutation_p.G125A|LMNA_ENST00000347559.2_Missense_Mutation_p.G125A	p.G125A	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN			2	586	+	Hepatocellular(266;0.158)		125			Coil 1B.|Interaction with MLIP.|Rod.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Missense_Mutation	SNP	ENST00000368300.4	37	c.374G>C	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979901	0.34942	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000392355;ENST00000448611;ENST00000368297;ENST00000504687;ENST00000473598;ENST00000392353	D;D;D;D;D;D;D;D;D;D	0.82167	-1.57;-1.58;-1.57;-1.57;-1.57;-1.58;-1.58;-1.58;-1.58;-1.58	5.59	5.59	0.84812	Filament (1);	0.107097	0.41396	D	0.000888	T	0.49847	0.1581	N	0.02129	-0.67	0.31379	N	0.67926	B;B;B;B;B;B;B	0.19817	0.039;0.0;0.008;0.004;0.0;0.001;0.0	B;B;B;B;B;B;B	0.29785	0.107;0.006;0.044;0.009;0.006;0.011;0.003	T	0.39921	-0.9590	10	0.18710	T	0.47	.	17.0835	0.86604	0.0:0.0:1.0:0.0	.	13;125;26;44;125;125;125	E7EUI9;Q6UYC3;D6RAQ3;Q5TCI8;P02545;P02545-3;P02545-2	.;.;.;.;LMNA_HUMAN;.;.	A	125;125;125;125;125;125;125;13;44;42;26;44	ENSP00000357284:G125A;ENSP00000292304:G125A;ENSP00000355292:G125A;ENSP00000357283:G125A;ENSP00000357282:G125A;ENSP00000395597:G13A;ENSP00000357280:G44A;ENSP00000426535:G42A;ENSP00000421821:G26A;ENSP00000376164:G44A	ENSP00000292302:G125A	G	+	2	0	LMNA	154367049	0.984000	0.35163	0.991000	0.47740	0.906000	0.53458	2.096000	0.41738	2.635000	0.89317	0.655000	0.94253	GGT		0.567	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		12	91	0	0	0	1	0	12	91				
CACNG4	27092	broad.mit.edu	37	17	64961156	64961156	+	Silent	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr17:64961156C>T	ENST00000262138.3	+	1	131	c.129C>T	c.(127-129)ggC>ggT	p.G43G		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	43					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TCTGCAACGGCACCAACCTGA	0.692																																						ENST00000262138.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19						c.(127-129)ggC>ggT		calcium channel, voltage-dependent, gamma subunit 4							32.0	29.0	30.0					17																	64961156		2203	4300	6503	SO:0001819	synonymous_variant	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:64961156C>T	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.129C>T	17.37:g.64961156C>T							p.G43G	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		1	131	+	all_cancers(12;9.86e-11)		43					B2RCK0	Silent	SNP	ENST00000262138.3	37	c.129C>T	CCDS11667.1																																																																																				0.692	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		3	10	0	0	0	1	0	3	10				
ZBTB20	26137	broad.mit.edu	37	3	114070207	114070207	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr3:114070207C>T	ENST00000474710.1	-	4	896	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000393785.2_Missense_Mutation_p.V167M|ZBTB20_ENST00000462705.1_Missense_Mutation_p.V167M|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.V167M|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Missense_Mutation_p.V167M|ZBTB20_ENST00000464560.1_Missense_Mutation_p.V167M|ZBTB20_ENST00000471418.1_Missense_Mutation_p.V167M	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	240						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ATCCTGTCCACGCTGTGCTGT	0.662																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(499-501)Gtg>Atg		zinc finger and BTB domain containing 20							88.0	79.0	82.0					3																	114070207		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070207C>T	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.718G>A	3.37:g.114070207C>T	ENSP00000419153:p.Val240Met					ZBTB20_ENST00000471418.1_Missense_Mutation_p.V167M|ZBTB20_ENST00000474710.1_Missense_Mutation_p.V240M|ZBTB20_ENST00000481632.1_Missense_Mutation_p.V167M|ZBTB20_ENST00000357258.3_Missense_Mutation_p.V167M|ZBTB20_ENST00000464560.1_Missense_Mutation_p.V167M|ZBTB20_ENST00000393785.2_Missense_Mutation_p.V167M	p.V167M	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1320	-			240			BTB.		Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.499G>A	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039660	0.55003	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.10288	2.92;2.92;2.92;2.92;2.89;2.92;2.92	5.52	5.52	0.82312	.	0.285984	0.38005	N	0.001851	T	0.07863	0.0197	N	0.19112	0.55	0.52099	D	0.999946	P	0.35628	0.513	B	0.17433	0.018	T	0.28202	-1.0051	10	0.42905	T	0.14	.	19.6361	0.95733	0.0:1.0:0.0:0.0	.	240	Q9HC78	ZBT20_HUMAN	M	167;167;167;167;240;167;167	ENSP00000420324:V167M;ENSP00000377375:V167M;ENSP00000418092:V167M;ENSP00000419902:V167M;ENSP00000419153:V240M;ENSP00000349803:V167M;ENSP00000417307:V167M	ENSP00000349803:V167M	V	-	1	0	ZBTB20	115552897	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	2.260000	0.43267	2.878000	0.98634	0.650000	0.86243	GTG		0.662	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		8	123	0	0	0	1	0	8	123				
RC3H1	149041	broad.mit.edu	37	1	173952700	173952702	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr1:173952700_173952702delCTT	ENST00000367696.2	-	4	797_799	c.446_448delAAG	c.(445-450)gaaggc>ggc	p.E149del	RC3H1_ENST00000367694.2_In_Frame_Del_p.E149del|RC3H1_ENST00000258349.4_In_Frame_Del_p.E149del			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	149					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CGAATCCTGCCTTCTTCTTCTAC	0.483																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(445-450)ggc>g		ring finger and CCCH-type domains 1																																				SO:0001651	inframe_deletion	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173952700_173952702delCTT	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.446_448delAAG	1.37:g.173952706_173952708delCTT	ENSP00000356669:p.Glu149del					RC3H1_ENST00000367694.2_In_Frame_Del_p.EG149del|RC3H1_ENST00000258349.4_In_Frame_Del_p.EG149del	p.EG149del			Q5TC82	RC3H1_HUMAN			4	797_799	-			149					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	In_Frame_Del	DEL	ENST00000367696.2	37	c.446_448delAAG	CCDS30940.1																																																																																				0.483	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		28	87						28	87	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(1918-1920)aafs		transmembrane protein 131							277.0	265.0	269.0					2																	98427639		1831	4095	5926	SO:0001589	frameshift_variant	23505					integral to membrane		g.chr2:98427639delT	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1920delA	2.37:g.98427639delT	ENSP00000186436:p.Lys640fs						p.K640fs	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			18	2148	-			640						Frame_Shift_Del	DEL	ENST00000186436.5	37	c.1920delA	CCDS46368.1																																																																																				0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		7	272						7	272	---	---	---	---
DBN1	1627	broad.mit.edu	37	5	176894605	176894605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr5:176894605delG	ENST00000309007.5	-	5	573	c.354delC	c.(352-354)gccfs	p.A118fs	DBN1_ENST00000292385.5_Frame_Shift_Del_p.A120fs|DBN1_ENST00000393565.1_Frame_Shift_Del_p.A118fs	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	118	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACGCTGCTGGCGTTCACGA	0.677																																						ENST00000292385.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25						c.(358-360)gcfs		drebrin 1							18.0	18.0	18.0					5																	176894605		2193	4276	6469	SO:0001589	frameshift_variant	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176894605delG		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.354delC	5.37:g.176894605delG	ENSP00000308532:p.Ala118fs					DBN1_ENST00000393565.1_Frame_Shift_Del_p.A118fs|DBN1_ENST00000309007.5_Frame_Shift_Del_p.A118fs	p.A120fs	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	969	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	118			ADF-H.		A8MV58|B2RBG0|Q9UFZ5	Frame_Shift_Del	DEL	ENST00000309007.5	37	c.360delC	CCDS4420.1																																																																																				0.677	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		2	4						2	4	---	---	---	---
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs11468351|rs5839847|rs6147263	byFrequency	TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr20:278688_278690delCGG	ENST00000382352.3	+	1	952_954	c.461_463delCGG	c.(460-465)ccggcg>ccg	p.A159del		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	159	Poly-Ala.						poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A159delA(3)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768														4335	0.865615	0.8343	0.9395	5008	,	,		8937	0.8065		0.9423	False		,,,				2504	0.8374					ENST00000382352.3																			3	Deletion - In frame(3)	p.A159delA(3)	prostate(2)|large_intestine(1)	endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(460-465)ccg>c		zinc finger, CCHC domain containing 3																																				SO:0001651	inframe_deletion	85364						nucleic acid binding|zinc ion binding	g.chr20:278688_278690delCGG	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.461_463delCGG	20.37:g.278697_278699delCGG	ENSP00000371789:p.Ala159del						p.PA154del	NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	952_954	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	154					Q3B7J3|Q6NT79	In_Frame_Del	DEL	ENST00000382352.3	37	c.461_463delCGG	CCDS42844.1																																																																																				0.768	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			4	2						4	2	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33060662	33060663	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P3-A6SW-01A-11D-A34J-08	TCGA-P3-A6SW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa1f6c7-5def-4e59-b997-2cc47a32e7a5	8e2894fc-b325-49e8-afd3-b9c2b10ec1e2	g.chr21:33060662_33060663insG	ENST00000286835.7	-	16	2382_2383	c.2000_2001insC	c.(1999-2001)cctfs	p.P667fs	SCAF4_ENST00000434667.3_Frame_Shift_Ins_p.P652fs|SCAF4_ENST00000399804.1_Frame_Shift_Ins_p.P667fs	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	667						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CAGGAATAGGAGGGACAGGCAC	0.45																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1999-2001)cccfs		SR-related CTD-associated factor 4																																				SO:0001589	frameshift_variant	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33060662_33060663insG	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2001dupC	21.37:g.33060665_33060665dupG	ENSP00000286835:p.Pro667fs					SCAF4_ENST00000399804.1_Frame_Shift_Ins_p.P667fs|SCAF4_ENST00000434667.3_Frame_Shift_Ins_p.P652fs	p.P667fs	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			16	2382_2383	-			667					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Frame_Shift_Ins	INS	ENST00000286835.7	37	c.2000_2001insC	CCDS33537.1																																																																																				0.450	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		42	132						42	132	---	---	---	---
