#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
EMC1	23065	broad.mit.edu	37	1	19577911	19577911	+	Silent	SNP	A	A	G			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr1:19577911A>G	ENST00000477853.1	-	1	135	c.93T>C	c.(91-93)gaT>gaC	p.D31D	EMC1_ENST00000375208.3_Silent_p.D31D|MRTO4_ENST00000330263.4_5'Flank|EMC1_ENST00000375199.3_Silent_p.D31D|EMC1_ENST00000356068.2_Silent_p.D31D	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	31						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GTACGCACCAATCAAACTTGC	0.537																																						uc001bbo.2		NA																	0				ovary(1)	1						c.(91-93)GAT>GAC		hypothetical protein LOC23065 precursor							147.0	112.0	124.0					1																	19577911		2203	4300	6503	SO:0001819	synonymous_variant	23065					integral to membrane	protein binding	g.chr1:19577911A>G		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.93T>C	1.37:g.19577911A>G						KIAA0090_uc001bbp.2_Silent_p.D31D|KIAA0090_uc001bbq.2_Silent_p.D31D|KIAA0090_uc001bbr.2_Silent_p.D31D|MRTO4_uc001bbs.2_5'Flank	p.D31D	NM_015047	NP_055862	Q8N766	K0090_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)	1	136	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)	31			Extracellular (Potential).		A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	c.93T>C	CCDS190.1																																																																																				0.537	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		9	48	0	0	0	0	9	48				
ZNF362	149076	broad.mit.edu	37	1	33745847	33745847	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr1:33745847G>A	ENST00000539719.1	+	5	642	c.472G>A	c.(472-474)Gcc>Acc	p.A158T	ZNF362_ENST00000373428.5_Missense_Mutation_p.A158T	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCGCCTCATCGCCTCGTCCCC	0.682																																					Pancreas(162;1431 2676 35353 38425)	uc001bxc.1		NA																	0					0						c.(472-474)GCC>ACC		zinc finger protein 362							79.0	75.0	77.0					1																	33745847		2203	4300	6503	SO:0001583	missense	149076				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33745847G>A		CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"""Zinc fingers, C2H2-type"""	18079	protein-coding gene	gene with protein product	"""rotund homolog (Drosophila)"""						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.472G>A	1.37:g.33745847G>A	ENSP00000446335:p.Ala158Thr						p.A158T	NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN			5	642	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	158					Q8WYU4	Missense_Mutation	SNP	ENST00000539719.1	37	c.472G>A	CCDS377.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156995	0.78114	.	.	ENSG00000160094	ENST00000483388;ENST00000539719;ENST00000373428	T;T	0.08634	3.07;3.07	6.03	6.03	0.97812	.	0.674746	0.13002	N	0.421606	T	0.06645	0.0170	N	0.16478	0.41	0.45139	D	0.99815	B	0.21147	0.052	B	0.08055	0.003	T	0.45190	-0.9278	10	0.14656	T	0.56	-30.6895	16.0569	0.80812	0.0:0.0:1.0:0.0	.	158	Q5T0B9	ZN362_HUMAN	T	145;158;158	ENSP00000446335:A158T;ENSP00000362527:A158T	ENSP00000362527:A158T	A	+	1	0	ZNF362	33518434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.510000	0.67018	2.861000	0.98227	0.655000	0.94253	GCC		0.682	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493		8	124	0	0	0	0	8	124				
DBT	1629	broad.mit.edu	37	1	100672165	100672165	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr1:100672165C>G	ENST00000370132.4	-	9	1058	c.1045G>C	c.(1045-1047)Gat>Cat	p.D349H		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	349					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TGCTCAGTATCCATTGCTATC	0.388																																						uc001dta.2		NA																	0				pancreas(1)	1						c.(1045-1047)GAT>CAT		dihydrolipoamide branched chain transacylase							168.0	176.0	173.0					1																	100672165		2203	4300	6503	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100672165C>G	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.1045G>C	1.37:g.100672165C>G	ENSP00000359151:p.Asp349His					DBT_uc010oug.1_Missense_Mutation_p.D168H	p.D349H	NM_001918	NP_001909	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	9	1078	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	349					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.1045G>C	CCDS767.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995248	0.93167	.	.	ENSG00000137992	ENST00000543138;ENST00000370132	T	0.49720	0.77	5.74	5.74	0.90152	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.74397	0.3711	H	0.95114	3.625	0.80722	D	1	D;D	0.61697	0.987;0.99	P;P	0.62184	0.838;0.899	T	0.81752	-0.0789	10	0.66056	D	0.02	-26.9012	19.9185	0.97074	0.0:1.0:0.0:0.0	.	168;349	F5H1F9;P11182	.;ODB2_HUMAN	H	168;349	ENSP00000359151:D349H	ENSP00000359151:D349H	D	-	1	0	DBT	100444753	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.400000	0.79949	2.711000	0.92665	0.561000	0.74099	GAT		0.388	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		33	252	0	0	0	0	33	252				
PSMB4	5692	broad.mit.edu	37	1	151373293	151373293	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr1:151373293C>T	ENST00000290541.6	+	4	602	c.548C>T	c.(547-549)gCc>gTc	p.A183V		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	183					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	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)			CCTTCGCTGGCCACTGGTTAT	0.463																																						uc001eyc.1		NA																	0				ovary(2)	2						c.(547-549)GCC>GTC		proteasome beta 4 subunit							222.0	217.0	219.0					1																	151373293		2203	4300	6503	SO:0001583	missense	5692				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr1:151373293C>T	D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"""Proteasome (prosome, macropain) subunits"""	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.548C>T	1.37:g.151373293C>T	ENSP00000290541:p.Ala183Val					PSMB4_uc010pda.1_3'UTR|PSMB4_uc001eyb.1_3'UTR	p.A183V	NM_002796	NP_002787	P28070	PSB4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		4	571	+	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		183					B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Missense_Mutation	SNP	ENST00000290541.6	37	c.548C>T	CCDS996.1	.	.	.	.	.	.	.	.	.	.	C	36	5.726537	0.96847	.	.	ENSG00000159377	ENST00000290541	T	0.44482	0.92	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	M	0.83852	2.665	0.80722	D	1	D	0.67145	0.996	D	0.63488	0.915	T	0.65874	-0.6062	10	0.87932	D	0	-16.3869	16.302	0.82825	0.0:1.0:0.0:0.0	.	183	P28070	PSB4_HUMAN	V	183	ENSP00000290541:A183V	ENSP00000290541:A183V	A	+	2	0	PSMB4	149639917	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.748000	0.85085	2.640000	0.89533	0.563000	0.77884	GCC		0.463	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		35	302	0	0	0	0	35	302				
NID1	4811	broad.mit.edu	37	1	236175241	236175241	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr1:236175241C>T	ENST00000264187.6	-	12	2589	c.2507G>A	c.(2506-2508)gGc>gAc	p.G836D	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	836	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GCAACGGAAGCCGTCTCCCTG	0.577																																						uc001hxo.2		NA																	0				large_intestine(1)|pancreas(1)	2						c.(2506-2508)GGC>GAC		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						145.0	115.0	125.0					1																	236175241		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236175241C>T	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2507G>A	1.37:g.236175241C>T	ENSP00000264187:p.Gly836Asp					NID1_uc009xgd.2_Intron|NID1_uc009xgc.2_5'UTR	p.G836D	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		12	2609	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	836			EGF-like 5; calcium-binding (Potential).		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.2507G>A	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952207	0.92660	.	.	ENSG00000116962	ENST00000264187	D	0.99909	-7.85	5.77	5.77	0.91146	Thyroglobulin type-1 (1);EGF domain, merozoite surface protein 1-like (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99928	0.9967	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96255	0.9186	10	0.87932	D	0	.	18.7638	0.91864	0.0:1.0:0.0:0.0	.	836	P14543	NID1_HUMAN	D	836	ENSP00000264187:G836D	ENSP00000264187:G836D	G	-	2	0	NID1	234241864	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	7.070000	0.76763	2.701000	0.92244	0.650000	0.86243	GGC		0.577	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		8	89	0	0	0	0	8	89				
RYR2	6262	broad.mit.edu	37	1	237961367	237961367	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr1:237961367C>T	ENST00000366574.2	+	97	14304	c.13987C>T	c.(13987-13989)Cga>Tga	p.R4663*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.R4647*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.R4669*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4663					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTCTACGGCCGAGACAGAAT	0.408																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(13987-13989)CGA>TGA		cardiac muscle ryanodine receptor							87.0	88.0	88.0					1																	237961367		1879	4108	5987	SO:0001587	stop_gained	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237961367C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13987C>T	1.37:g.237961367C>T	ENSP00000355533:p.Arg4663*					RYR2_uc010pyb.1_Nonsense_Mutation_p.R96*	p.R4663*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		97	14107	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4663					Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.13987C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	55	24.538174	0.99961	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	.	.	.	5.72	3.77	0.43336	.	0.100578	0.40144	U	0.001168	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	14.1239	0.65208	0.4015:0.5985:0.0:0.0	.	.	.	.	X	4663;4669;4647;96	.	ENSP00000353174:R4669X	R	+	1	2	RYR2	236027990	0.008000	0.16893	0.990000	0.47175	0.876000	0.50452	0.622000	0.24433	0.690000	0.31570	0.650000	0.86243	CGA		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		3	17	0	0	0	0	3	17				
C1orf101	257044	broad.mit.edu	37	1	244735832	244735832	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr1:244735832C>G	ENST00000366534.4	+	11	1762	c.1708C>G	c.(1708-1710)Ctg>Gtg	p.L570V	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.L570V|C1orf101_ENST00000366531.3_Missense_Mutation_p.L419V	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	570						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TCCCTTACATCTGGAAGCACA	0.363																																						uc001iam.2		NA																	0				ovary(1)|breast(1)	2						c.(1708-1710)CTG>GTG		hypothetical protein LOC257044 isoform 1							129.0	116.0	120.0					1																	244735832		2203	4300	6503	SO:0001583	missense	257044					integral to membrane		g.chr1:244735832C>G	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1708C>G	1.37:g.244735832C>G	ENSP00000355492:p.Leu570Val					C1orf101_uc001iak.1_Missense_Mutation_p.L124V|C1orf101_uc001ial.2_Missense_Mutation_p.L570V|C1orf101_uc010pym.1_Missense_Mutation_p.L419V|C1orf101_uc010pyn.1_Missense_Mutation_p.L503V	p.L570V	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		11	1767	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		570			Extracellular (Potential).		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	c.1708C>G	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626295	0.46840	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.06	2.91	0.33838	.	0.000000	0.43747	D	0.000524	T	0.41305	0.1153	L	0.61218	1.895	0.22954	N	0.998518	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.85130	0.994;0.997;0.997;0.996	T	0.08186	-1.0734	10	0.41790	T	0.15	.	6.6328	0.22867	0.0:0.744:0.0:0.256	.	490;570;570;419	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	V	570;570;570;490;419	ENSP00000355492:L570V;ENSP00000355491:L570V;ENSP00000395796:L490V;ENSP00000355489:L419V	ENSP00000355489:L419V	L	+	1	2	C1orf101	242802455	0.023000	0.18921	0.796000	0.32109	0.006000	0.05464	-0.052000	0.11865	1.105000	0.41606	0.557000	0.71058	CTG		0.363	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		8	70	0	0	0	0	8	70				
MYO3A	53904	broad.mit.edu	37	10	26463239	26463239	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr10:26463239C>A	ENST00000265944.5	+	30	4212	c.4046C>A	c.(4045-4047)gCa>gAa	p.A1349E	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1349	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAGATAAAGCAGCGGTATTC	0.488																																						uc001isn.2		NA																	0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(4045-4047)GCA>GAA		myosin IIIA							127.0	125.0	126.0					10																	26463239		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26463239C>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4046C>A	10.37:g.26463239C>A	ENSP00000265944:p.Ala1349Glu					MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	p.A1349E	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			30	4406	+			1349			IQ 3.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4046C>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	35	5.573821	0.96553	.	.	ENSG00000095777	ENST00000265944	D	0.82344	-1.6	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.87970	0.6312	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88015	0.2765	10	0.52906	T	0.07	.	19.4796	0.95003	0.0:1.0:0.0:0.0	.	1349	Q8NEV4	MYO3A_HUMAN	E	1349	ENSP00000265944:A1349E	ENSP00000265944:A1349E	A	+	2	0	MYO3A	26503245	1.000000	0.71417	0.126000	0.21872	0.724000	0.41520	6.690000	0.74567	2.599000	0.87857	0.563000	0.77884	GCA		0.488	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		11	89	1	0	0.00829132	0.00858224	11	89				
CSGALNACT2	55454	broad.mit.edu	37	10	43650731	43650731	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr10:43650731C>T	ENST00000374466.3	+	2	469	c.134C>T	c.(133-135)cCt>cTt	p.P45L	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.P45L	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	45					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCATCTCTTCCTGGTGTTGTT	0.463																																						uc001jan.2		NA																	0				ovary(1)	1						c.(133-135)CCT>CTT		chondroitin sulfate							97.0	87.0	90.0					10																	43650731		2203	4300	6503	SO:0001583	missense	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43650731C>T	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.134C>T	10.37:g.43650731C>T	ENSP00000363590:p.Pro45Leu					CSGALNACT2_uc001jam.1_Missense_Mutation_p.P45L	p.P45L	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN			2	469	+			45			Lumenal (Potential).		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	c.134C>T	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761968	0.31228	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.27256	1.74;1.68	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.11767	-1.0574	10	0.18710	T	0.47	-12.5522	19.9019	0.96988	0.0:1.0:0.0:0.0	.	45;45	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	L	45	ENSP00000363590:P45L;ENSP00000363588:P45L	ENSP00000363588:P45L	P	+	2	0	CSGALNACT2	42970737	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.414000	0.80117	2.781000	0.95711	0.650000	0.86243	CCT		0.463	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		8	64	0	0	0	0	8	64				
RHOBTB1	9886	broad.mit.edu	37	10	62648571	62648571	+	Silent	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr10:62648571G>A	ENST00000337910.5	-	6	1192	c.855C>T	c.(853-855)ctC>ctT	p.L285L	RHOBTB1_ENST00000357917.4_Silent_p.L285L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	285	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AAGAGGTAGCGAGGTAAATTC	0.438																																						uc001jli.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(853-855)CTC>CTT		Rho-related BTB domain containing 1							92.0	96.0	95.0					10																	62648571		2203	4300	6503	SO:0001819	synonymous_variant	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62648571G>A	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.855C>T	10.37:g.62648571G>A						RHOBTB1_uc001jlh.2_Silent_p.L285L|RHOBTB1_uc001jlj.2_Silent_p.L285L|RHOBTB1_uc001jlk.2_Silent_p.L285L|RHOBTB1_uc009xpe.1_Silent_p.L223L|RHOBTB1_uc001jll.2_Silent_p.L35L	p.L285L	NM_014836	NP_055651	O94844	RHBT1_HUMAN			7	1293	-	Prostate(12;0.0112)		285			BTB 1.			Silent	SNP	ENST00000337910.5	37	c.855C>T	CCDS7261.1																																																																																				0.438	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			13	92	0	0	0	0	13	92				
SEC23IP	11196	broad.mit.edu	37	10	121685734	121685734	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr10:121685734G>A	ENST00000369075.3	+	13	2380	c.2308G>A	c.(2308-2310)Gga>Aga	p.G770R	SEC23IP_ENST00000543134.1_Missense_Mutation_p.G559R	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	770					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G770R(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AGTTGGCGCCGGACAGGTGAG	0.393																																						uc001leu.1		NA																	1	Substitution - Missense(1)	p.G770R(1)	ovary(1)	ovary(3)	3						c.(2308-2310)GGA>AGA		Sec23-interacting protein p125							135.0	139.0	138.0					10																	121685734		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121685734G>A	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2308G>A	10.37:g.121685734G>A	ENSP00000358071:p.Gly770Arg					SEC23IP_uc010qtc.1_Missense_Mutation_p.G559R|SEC23IP_uc009xzk.1_RNA	p.G770R	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	13	2380	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	770					D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.2308G>A	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109062	0.77096	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.43688	0.94;1.09	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66272	-0.5965	10	0.66056	D	0.02	-20.9074	19.8472	0.96713	0.0:0.0:1.0:0.0	.	559;770	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	R	770;559	ENSP00000358071:G770R;ENSP00000438773:G559R	ENSP00000358071:G770R	G	+	1	0	SEC23IP	121675724	1.000000	0.71417	0.934000	0.37439	0.310000	0.27922	9.148000	0.94652	2.701000	0.92244	0.591000	0.81541	GGA		0.393	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			19	137	0	0	0	0	19	137				
HRAS	3265	broad.mit.edu	37	11	534289	534289	+	Missense_Mutation	SNP	C	C	T	rs104894229		TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr11:534289C>T	ENST00000451590.1	-	2	221	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000417302.1_Missense_Mutation_p.G12S|HRAS_ENST00000311189.7_Missense_Mutation_p.G12S	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in CSTLO). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854}.|G -> C (in CSTLO). {ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:18039947}.|G -> D (in CSTLO; severe mutation). {ECO:0000269|PubMed:18039947}.|G -> E (in CSTLO). {ECO:0000269|PubMed:16443854}.|G -> S (in CSTLO, OSCC and CMEMS). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:17054105, ECO:0000269|PubMed:17412879}.|G -> V (in CSTLO, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:17412879}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCACACCGCCGGCGCCCACC	0.647		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.2		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		rhadomyosarcoma|ganglioneuroblastoma|bladder	infrequent sarcomas|rare other types		95	Substitution - Missense(95)	p.G12V(250)|p.G12S(54)|p.G12D(39)|p.G12C(23)|p.G12R(12)|p.G12A(7)|p.G12_G13insAG(1)	upper_aerodigestive_tract(33)|urinary_tract(15)|skin(11)|thyroid(10)|cervix(7)|soft_tissue(5)|salivary_gland(5)|pituitary(3)|large_intestine(2)|lung(1)|penis(1)|prostate(1)|bone(1)	urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749	GRCh37	CM053283|CM061797	HRAS	M	rs104894229	c.(34-36)GGC>AGC		v-Ha-ras Harvey rat sarcoma viral oncogene	Sulindac(DB00605)						78.0	74.0	76.0					11																	534289		2202	4300	6502	SO:0001583	missense	3265	Costello_syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534289C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.34G>A	11.37:g.534289C>T	ENSP00000407586:p.Gly12Ser	HNSCC(11;0.0054)				HRAS_uc010qvw.1_Missense_Mutation_p.G12S|HRAS_uc010qvx.1_Missense_Mutation_p.G12S|HRAS_uc010qvy.1_RNA	p.G12S	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	222	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	12		G -> S (in FCSS, OSCC and CMEMS).|G -> E (in FCSS).|G -> C (in FCSS).|G -> A (in FCSS).	GTP.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.34G>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492705	0.64074	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74329	0.3702	L	0.48935	1.535	0.80722	D	1	P;P	0.44281	0.797;0.831	B;P	0.44359	0.319;0.447	T	0.79598	-0.1737	10	0.72032	D	0.01	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	12;12	P01112-2;P01112	.;RASH_HUMAN	S	12	ENSP00000380722:G12S;ENSP00000380723:G12S;ENSP00000407586:G12S;ENSP00000388246:G12S;ENSP00000309845:G12S	ENSP00000309845:G12S	G	-	1	0	HRAS	524289	1.000000	0.71417	0.332000	0.25469	0.311000	0.27955	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGC		0.647	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		56	46	0	0	0	0	56	46				
DDB1	1642	broad.mit.edu	37	11	61089130	61089130	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr11:61089130G>A	ENST00000301764.7	-	10	1559	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	388	Interaction with CDT1.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CGGATGATCCGCAAAGAACCT	0.473								Nucleotide excision repair (NER)																														uc001nrc.3		NA																	0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1162-1164)CGG>TGG	NER	damage-specific DNA binding protein 1							234.0	224.0	228.0					11																	61089130		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61089130G>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1162C>T	11.37:g.61089130G>A	ENSP00000301764:p.Arg388Trp					DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.R388W|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Missense_Mutation_p.R388W|DDB1_uc009ynl.1_Missense_Mutation_p.R275W	p.R388W	NM_001923	NP_001914	Q16531	DDB1_HUMAN			10	1388	-			388			Interaction with CDT1.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.1162C>T	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177862	0.78564	.	.	ENSG00000167986	ENST00000301764;ENST00000535967;ENST00000539739;ENST00000535174	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.52	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.75273	0.3827	M	0.93720	3.45	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.81389	-0.0955	10	0.87932	D	0	-18.5243	13.7621	0.62973	0.0:0.0:0.4718:0.5282	.	388;388;388	F5GY55;B7Z2A1;Q16531	.;.;DDB1_HUMAN	W	388;39;107;171	ENSP00000301764:R388W;ENSP00000437713:R39W;ENSP00000445563:R107W;ENSP00000446044:R171W	ENSP00000301764:R388W	R	-	1	2	DDB1	60845706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.313000	0.43735	0.658000	0.30925	0.591000	0.81541	CGG		0.473	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		19	235	0	0	0	0	19	235				
DDB1	1642	broad.mit.edu	37	11	61090509	61090509	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr11:61090509G>A	ENST00000301764.7	-	8	1376	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	327	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TCACCCAGGCGAGACCCGACA	0.438								Nucleotide excision repair (NER)																														uc001nrc.3		NA																	0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(979-981)CGC>TGC	NER	damage-specific DNA binding protein 1							99.0	82.0	88.0					11																	61090509		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61090509G>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.979C>T	11.37:g.61090509G>A	ENSP00000301764:p.Arg327Cys					DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.R327C|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Missense_Mutation_p.R327C|DDB1_uc009ynl.1_Missense_Mutation_p.R214C	p.R327C	NM_001923	NP_001914	Q16531	DDB1_HUMAN			8	1205	-			327			Interaction with CDT1.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.979C>T	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324832	0.81580	.	.	ENSG00000167986	ENST00000301764;ENST00000539739;ENST00000535174;ENST00000541513	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.66	5.66	0.87406	.	0.049184	0.85682	D	0.000000	T	0.69142	0.3078	M	0.86573	2.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73708	0.968;0.981;0.981	T	0.74182	-0.3748	10	0.72032	D	0.01	-19.5814	16.0468	0.80725	0.0:0.0:0.8654:0.1346	.	327;327;327	F5GY55;B7Z2A1;Q16531	.;.;DDB1_HUMAN	C	327;46;110;142	ENSP00000301764:R327C;ENSP00000445563:R46C;ENSP00000446044:R110C;ENSP00000442660:R142C	ENSP00000301764:R327C	R	-	1	0	DDB1	60847085	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.910000	0.63321	2.682000	0.91365	0.655000	0.94253	CGC		0.438	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		3	31	0	0	0	0	3	31				
DDX10	1662	broad.mit.edu	37	11	108546344	108546344	+	Missense_Mutation	SNP	G	G	A	rs145766863	byFrequency	TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr11:108546344G>A	ENST00000322536.3	+	3	398	c.269G>A	c.(268-270)cGt>cAt	p.R90H	DDX10_ENST00000526794.1_Missense_Mutation_p.R90H	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	90					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GCTCAGTACCGTTTGGTGACT	0.458			T	NUP98	AML*																																	uc001pkm.2		NA		Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|lung(1)|prostate(1)	4						c.(268-270)CGT>CAT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		G	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	125.0	115.0	119.0		269	5.8	1.0	11	dbSNP_134	119	1,8595	1.2+/-3.3	0,1,4297	no	missense	DDX10	NM_004398.2	29	0,2,6497	AA,AG,GG		0.0116,0.0227,0.0154	benign	90/876	108546344	2,12996	2201	4298	6499	SO:0001583	missense	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108546344G>A	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.269G>A	11.37:g.108546344G>A	ENSP00000314348:p.Arg90His					DDX10_uc001pkl.1_Missense_Mutation_p.R90H	p.R90H	NM_004398	NP_004389	Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	3	334	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	90			Q motif.|ATP.		B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	c.269G>A	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313417	0.60414	2.27E-4	1.16E-4	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.41065	1.01;1.01	5.82	5.82	0.92795	RNA helicase, DEAD-box type, Q motif (1);DEAD-like helicase (1);	0.048888	0.85682	D	0.000000	T	0.39306	0.1073	L	0.40543	1.245	0.80722	D	1	B;B	0.22346	0.039;0.068	B;B	0.11329	0.006;0.006	T	0.08617	-1.0713	10	0.39692	T	0.17	-4.5674	20.1566	0.98115	0.0:0.0:1.0:0.0	.	90;90	Q13206;E9PIF2	DDX10_HUMAN;.	H	90	ENSP00000314348:R90H;ENSP00000432032:R90H	ENSP00000314348:R90H	R	+	2	0	DDX10	108051554	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.413000	0.97351	2.779000	0.95612	0.603000	0.83216	CGT		0.458	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		8	92	0	0	0	0	8	92				
OR6M1	390261	broad.mit.edu	37	11	123676267	123676267	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr11:123676267G>A	ENST00000309154.2	-	1	828	c.791C>T	c.(790-792)tCa>tTa	p.S264L		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		ATAATCCAGTGAGGAGTTCTG	0.488																																						uc010rzz.1		NA																	0				skin(2)	2						c.(790-792)TCA>TTA		olfactory receptor, family 6, subfamily M,							115.0	107.0	109.0					11																	123676267		2202	4299	6501	SO:0001583	missense	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676267G>A	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.791C>T	11.37:g.123676267G>A	ENSP00000311038:p.Ser264Leu						p.S264L	NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	791	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	264			Extracellular (Potential).		B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	c.791C>T	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	G	2.638	-0.284708	0.05605	.	.	ENSG00000196099	ENST00000309154	T	0.00267	8.38	3.48	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29205	U	0.012835	T	0.00241	0.0007	M	0.79258	2.445	0.09310	N	1	B	0.15473	0.013	B	0.23275	0.045	T	0.31971	-0.9924	10	0.38643	T	0.18	.	8.2822	0.31906	0.1223:0.0:0.8777:0.0	.	264	Q8NGM8	OR6M1_HUMAN	L	264	ENSP00000311038:S264L	ENSP00000311038:S264L	S	-	2	0	OR6M1	123181477	0.002000	0.14202	0.001000	0.08648	0.180000	0.23129	1.177000	0.31969	0.642000	0.30620	0.655000	0.94253	TCA		0.488	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		8	66	0	0	0	0	8	66				
PRB3	5544	broad.mit.edu	37	12	11420574	11420574	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr12:11420574C>A	ENST00000279573.7	-	3	744	c.609G>T	c.(607-609)aaG>aaT	p.K203N	PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Missense_Mutation_p.K182N|PRB3_ENST00000381842.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	203	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GTCCTTCTGGCTTTCCCGGAC	0.627																																						uc001qzs.2		NA																	0				skin(1)	1						c.(607-609)AAG>AAT		proline-rich protein BstNI subfamily 3							70.0	97.0	89.0					12																	11420574		1601	3639	5240	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420574C>A			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.609G>T	12.37:g.11420574C>A	ENSP00000279573:p.Lys203Asn					PRB4_uc001qzf.1_Intron	p.K203N	NM_006249	NP_006240	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		3	647	-			203		Missing (in allele S).	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|8.|Pro-rich.		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000279573.7	37	c.609G>T		.	.	.	.	.	.	.	.	.	.	.	3.652	-0.071279	0.07228	.	.	ENSG00000197870	ENST00000538488	T	0.05447	3.44	1.19	-2.39	0.06602	.	1.892490	0.04753	N	0.424899	T	0.03178	0.0093	.	.	.	0.09310	N	1	P	0.39809	0.689	B	0.32022	0.139	T	0.37731	-0.9693	9	0.20519	T	0.43	.	4.4581	0.11652	0.0:0.4848:0.3397:0.1755	.	203	Q04118	PRB3_HUMAN	N	182	ENSP00000442626:K182N	ENSP00000279573:K203N	K	-	3	2	PRB3	11311841	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-2.093000	0.01353	-1.024000	0.03338	0.134000	0.15878	AAG		0.627	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		10	272	1	0	1.4e-16	1.51e-16	10	272				
PRB3	5544	broad.mit.edu	37	12	11420826	11420826	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr12:11420826C>A	ENST00000279573.7	-	3	492	c.357G>T	c.(355-357)aaG>aaT	p.K119N	PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Intron|PRB3_ENST00000381842.3_Missense_Mutation_p.K119N			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	119	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.			K -> E (in Ref. 1; CAA30728). {ECO:0000305}.	defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GTCCTTCTGGCTTTCCCGGAC	0.632																																						uc001qzs.2		NA																	0				skin(1)	1						c.(355-357)AAG>AAT		proline-rich protein BstNI subfamily 3							87.0	105.0	99.0					12																	11420826		1434	3248	4682	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420826C>A			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.357G>T	12.37:g.11420826C>A	ENSP00000279573:p.Lys119Asn					PRB4_uc001qzf.1_Intron	p.K119N	NM_006249	NP_006240	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		3	395	-			119	K -> E (in Ref. 1; CAA30728).		4.|10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000279573.7	37	c.357G>T		.	.	.	.	.	.	.	.	.	.	.	4.484	0.089806	0.08632	.	.	ENSG00000197870	ENST00000381842	T	0.04275	3.66	0.52	-1.04	0.10068	.	.	.	.	.	T	0.02929	0.0087	.	.	.	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.46721	-0.9171	8	0.24483	T	0.36	.	5.9776	0.19389	0.0:0.6737:0.3262:0.0	.	119	Q04118	PRB3_HUMAN	N	119	ENSP00000371264:K119N	ENSP00000279573:K119N	K	-	3	2	PRB3	11312093	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.528000	0.06193	-0.424000	0.07382	0.134000	0.15878	AAG		0.632	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		18	195	1	0	5.77e-19	6.24e-19	18	195				
PUS7L	83448	broad.mit.edu	37	12	44148576	44148576	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr12:44148576G>A	ENST00000416848.2	-	2	961	c.473C>T	c.(472-474)cCt>cTt	p.P158L	PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Missense_Mutation_p.P158L|PUS7L_ENST00000551923.1_Missense_Mutation_p.P158L|PUS7L_ENST00000344862.5_Missense_Mutation_p.P158L	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	158					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GAATTCAGGAGGTAGTCCAAT	0.368																																						uc001rnq.3		NA																	0				pancreas(1)	1						c.(472-474)CCT>CTT		pseudouridylate synthase 7 homolog (S.							110.0	109.0	109.0					12																	44148576		2203	4300	6503	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148576G>A	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.473C>T	12.37:g.44148576G>A	ENSP00000415899:p.Pro158Leu					PUS7L_uc001rnr.3_Missense_Mutation_p.P158L|PUS7L_uc001rns.3_Missense_Mutation_p.P158L|PUS7L_uc009zkb.2_Intron	p.P158L	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	962	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	158					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.473C>T	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	G	3.562	-0.089387	0.07053	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.06	3.2	0.36748	Pseudouridine synthase, catalytic domain (1);	0.675558	0.14911	N	0.291237	T	0.07773	0.0195	N	0.02539	-0.55	0.39230	D	0.963656	B	0.06786	0.001	B	0.04013	0.001	T	0.16867	-1.0388	10	0.33141	T	0.24	-4.9664	6.0024	0.19527	0.0732:0.136:0.6498:0.141	.	158	Q9H0K6	PUS7L_HUMAN	L	158	ENSP00000415899:P158L;ENSP00000343081:P158L;ENSP00000447706:P158L;ENSP00000446865:P158L	ENSP00000343081:P158L	P	-	2	0	PUS7L	42434843	.	.	0.263000	0.24496	0.037000	0.13140	.	.	0.775000	0.33450	0.591000	0.81541	CCT		0.368	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		10	120	0	0	0	0	10	120				
ARHGAP9	64333	broad.mit.edu	37	12	57867414	57867414	+	Missense_Mutation	SNP	G	G	C	rs367941405		TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr12:57867414G>C	ENST00000356411.2	-	17	2191	c.2053C>G	c.(2053-2055)Cta>Gta	p.L685V	ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.L666V|ARHGAP9_ENST00000424809.2_Intron|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.L482V|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.L756V|ARHGAP9_ENST00000550454.1_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	685	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGGTACCGTAGAGTGTCATGG	0.507																																						uc001sod.2		NA																	0				lung(1)	1						c.(2266-2268)CTA>GTA		Rho GTPase activating protein 9 isoform 1							197.0	170.0	179.0					12																	57867414		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57867414G>C	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.2053C>G	12.37:g.57867414G>C	ENSP00000348782:p.Leu685Val					ARHGAP9_uc001sny.2_RNA|ARHGAP9_uc001snz.2_Missense_Mutation_p.L482V|ARHGAP9_uc001soa.2_Missense_Mutation_p.L355V|ARHGAP9_uc001sob.2_Intron|ARHGAP9_uc001soc.2_Missense_Mutation_p.L666V	p.L756V	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		20	2459	-			685			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.2266C>G		.	.	.	.	.	.	.	.	.	.	G	16.45	3.125800	0.56721	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000423291;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000550130	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	4.0	3.11	0.35812	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000011	T	0.57021	0.2025	M	0.66439	2.03	0.43439	D	0.995612	D;D;P	0.76494	0.999;0.998;0.707	D;D;P	0.80764	0.994;0.99;0.897	T	0.58137	-0.7689	10	0.87932	D	0	.	7.5303	0.27679	0.1174:0.0:0.8826:0.0	.	685;666;482	Q9BRR9;Q9BRR9-2;B4DVI3	RHG09_HUMAN;.;.	V	666;685;291;756;708;482;155	ENSP00000377380:L666V;ENSP00000348782:L685V;ENSP00000377386:L756V;ENSP00000397950:L482V;ENSP00000448423:L155V	ENSP00000344852:L708V	L	-	1	2	ARHGAP9	56153681	0.993000	0.37304	0.988000	0.46212	0.730000	0.41778	2.092000	0.41700	1.046000	0.40249	0.655000	0.94253	CTA		0.507	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		12	109	0	0	0	0	12	109				
ARHGAP9	64333	broad.mit.edu	37	12	57867440	57867440	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr12:57867440G>C	ENST00000356411.2	-	17	2165	c.2027C>G	c.(2026-2028)tCa>tGa	p.S676*	ARHGAP9_ENST00000550288.1_Silent_p.L730L|ARHGAP9_ENST00000393791.3_Nonsense_Mutation_p.S657*|ARHGAP9_ENST00000424809.2_Intron|ARHGAP9_ENST00000430041.2_Nonsense_Mutation_p.S473*|ARHGAP9_ENST00000393797.2_Nonsense_Mutation_p.S747*|ARHGAP9_ENST00000550454.1_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	676	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CTTTGGCATTGAGCCTATTAA	0.488																																						uc001sod.2		NA																	0				lung(1)	1						c.(2239-2241)TCA>TGA		Rho GTPase activating protein 9 isoform 1							200.0	172.0	181.0					12																	57867440		2203	4300	6503	SO:0001587	stop_gained	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57867440G>C	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.2027C>G	12.37:g.57867440G>C	ENSP00000348782:p.Ser676*					ARHGAP9_uc001sny.2_RNA|ARHGAP9_uc001snz.2_Nonsense_Mutation_p.S473*|ARHGAP9_uc001soa.2_Nonsense_Mutation_p.S346*|ARHGAP9_uc001sob.2_Intron|ARHGAP9_uc001soc.2_Nonsense_Mutation_p.S657*	p.S747*	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		20	2433	-			676			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Nonsense_Mutation	SNP	ENST00000356411.2	37	c.2240C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.169551|6.169551	0.97343|0.97343	.|.	.|.	ENSG00000123329|ENSG00000123329	ENST00000550399|ENST00000393791;ENST00000356411;ENST00000423291;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000550130	.|.	.|.	.|.	4.0|4.0	4.0|4.0	0.46444|0.46444	.|.	.|0.219793	.|0.36268	.|N	.|0.002690	T|.	0.66548|.	0.2800|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.77672|.	-0.2500|.	3|.	.|0.72032	.|D	.|0.01	.|.	11.8451|11.8451	0.52378|0.52378	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	82|657;676;282;747;699;473;146	.|.	.|ENSP00000344852:S699X	Q|S	-|-	1|2	0|0	ARHGAP9|ARHGAP9	56153707|56153707	0.355000|0.355000	0.24921|0.24921	0.549000|0.549000	0.28204|0.28204	0.532000|0.532000	0.34746|0.34746	2.483000|2.483000	0.45233|0.45233	2.247000|2.247000	0.74100|0.74100	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.488	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		10	92	0	0	0	0	10	92				
GNS	2799	broad.mit.edu	37	12	65130831	65130831	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr12:65130831G>A	ENST00000258145.3	-	9	1221	c.1051C>T	c.(1051-1053)Cca>Tca	p.P351S	GNS_ENST00000418919.2_Missense_Mutation_p.P295S|GNS_ENST00000543646.1_Missense_Mutation_p.P383S|GNS_ENST00000542058.1_Missense_Mutation_p.P331S	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	351					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ACCAACAGTGGAACTTTGATA	0.458																																						uc001ssg.3		NA																	0				central_nervous_system(1)	1						c.(1051-1053)CCA>TCA		glucosamine (N-acetyl)-6-sulfatase precursor							138.0	131.0	133.0					12																	65130831		2203	4300	6503	SO:0001583	missense	2799					lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding	g.chr12:65130831G>A		CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1051C>T	12.37:g.65130831G>A	ENSP00000258145:p.Pro351Ser					GNS_uc001ssf.2_Missense_Mutation_p.P295S|GNS_uc010ssq.1_Missense_Mutation_p.P383S|GNS_uc010ssr.1_Missense_Mutation_p.P331S	p.P351S	NM_002076	NP_002067	P15586	GNS_HUMAN	LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)	9	1221	-	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		351					B4DYH8|Q53F05	Missense_Mutation	SNP	ENST00000258145.3	37	c.1051C>T	CCDS8970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.244378|5.244378	0.95272|0.95272	.|.	.|.	ENSG00000135677|ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825;ENST00000545471|ENST00000540196	D;D;D;D|.	0.99660|.	-6.32;-6.32;-6.32;-6.32|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91099|0.91099	0.7198|0.7198	H|H	0.98559|0.98559	4.265|4.265	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.94071|0.94071	0.7335|0.7335	9|5	.|.	.|.	.|.	-12.9544|-12.9544	19.7699|19.7699	0.96359|0.96359	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	331;383;351;295|.	B4DYH8;F6S8M0;P15586;Q7Z3X3|.	.;.;GNS_HUMAN;.|.	S|F	295;351;383;331;268;288|170	ENSP00000413130:P295S;ENSP00000258145:P351S;ENSP00000438497:P383S;ENSP00000444819:P331S|.	.|.	P|S	-|-	1|2	0|0	GNS|GNS	63417098|63417098	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	9.645000|9.645000	0.98471|0.98471	2.759000|2.759000	0.94783|0.94783	0.555000|0.555000	0.69702|0.69702	CCA|TCC		0.458	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2			5	73	0	0	0	0	5	73				
ATP11A	23250	broad.mit.edu	37	13	113508638	113508638	+	Silent	SNP	C	C	T	rs144429120		TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr13:113508638C>T	ENST00000487903.1	+	19	2125	c.2037C>T	c.(2035-2037)gcC>gcT	p.A679A	ATP11A_ENST00000283558.8_Silent_p.A679A|ATP11A_ENST00000375645.3_Silent_p.A679A|ATP11A_ENST00000375630.2_Silent_p.A679A			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	679					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGCAGAAGGCCGGGATCAAAG	0.592																																						uc001vsi.3		NA																	0				large_intestine(2)|ovary(2)	4						c.(2035-2037)GCC>GCT		ATPase, class VI, type 11A isoform a		C	,	1,4405	2.1+/-5.4	0,1,2202	61.0	63.0	62.0		2037,2037	-10.0	0.0	13	dbSNP_134	62	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ATP11A	NM_015205.2,NM_032189.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	679/1135,679/1192	113508638	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113508638C>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2037C>T	13.37:g.113508638C>T						ATP11A_uc001vsj.3_Silent_p.A679A|ATP11A_uc001vsm.1_Silent_p.A555A|ATP11A_uc010ago.2_RNA	p.A679A	NM_015205	NP_056020	P98196	AT11A_HUMAN			19	2125	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	679			Cytoplasmic (Potential).		Q5VXT2	Silent	SNP	ENST00000487903.1	37	c.2037C>T	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	2.039	-0.420442	0.04734	2.27E-4	0.0	ENSG00000068650	ENST00000418678	.	.	.	5.0	-9.99	0.00435	.	.	.	.	.	T	0.32852	0.0843	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53570	-0.8420	4	.	.	.	.	1.1292	0.01742	0.4118:0.1237:0.1784:0.2862	.	.	.	.	L	654	.	.	P	+	2	0	ATP11A	112556639	0.000000	0.05858	0.003000	0.11579	0.299000	0.27559	-3.362000	0.00497	-4.629000	0.00039	-1.036000	0.02392	CCG		0.592	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		5	57	0	0	0	0	5	57				
FSIP1	161835	broad.mit.edu	37	15	40068654	40068654	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr15:40068654G>T	ENST00000350221.3	-	2	281	c.72C>A	c.(70-72)agC>agA	p.S24R	RP11-37C7.1_ENST00000558616.1_RNA	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	24										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TTGAACTTCTGCTCCCAGGGC	0.368																																						uc001zki.2		NA																	0				ovary(2)|skin(1)	3						c.(70-72)AGC>AGA		fibrous sheath interacting protein 1							139.0	135.0	136.0					15																	40068654		2203	4300	6503	SO:0001583	missense	161835							g.chr15:40068654G>T	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.72C>A	15.37:g.40068654G>T	ENSP00000280236:p.Ser24Arg						p.S24R	NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)	2	290	-		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)	24					Q6X2C8|Q86Y89	Missense_Mutation	SNP	ENST00000350221.3	37	c.72C>A	CCDS10050.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884212	0.51908	.	.	ENSG00000150667	ENST00000350221	T	0.31769	1.48	4.99	3.11	0.35812	.	0.061993	0.64402	D	0.000014	T	0.45337	0.1337	L	0.55103	1.725	0.38651	D	0.951834	D	0.76494	0.999	D	0.76575	0.988	T	0.38993	-0.9635	9	.	.	.	-11.2266	9.0034	0.36097	0.175:0.0:0.825:0.0	.	24	Q8NA03	FSIP1_HUMAN	R	24	ENSP00000280236:S24R	.	S	-	3	2	FSIP1	37855946	0.960000	0.32886	0.976000	0.42696	0.992000	0.81027	0.708000	0.25719	0.804000	0.34136	0.603000	0.83216	AGC		0.368	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		10	146	1	0	4.69e-08	5.03e-08	10	146				
B2M	567	broad.mit.edu	37	15	45003745	45003745	+	Start_Codon_SNP	SNP	A	A	G			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr15:45003745A>G	ENST00000558401.1	+	1	71	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	B2M_ENST00000544417.1_Start_Codon_SNP_p.M1V|PATL2_ENST00000558573.1_5'Flank|B2M_ENST00000559916.1_Start_Codon_SNP_p.M1V	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	1					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.M1L(3)|p.M1V(2)|p.?(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TCGGGCCGAGATGTCTCGCTC	0.612																																						uc001zuc.2		NA																	6	Substitution - Missense(5)|Unknown(1)	p.M1V(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(2)|lung(1)|large_intestine(1)	ovary(2)|skin(1)	3						c.(1-3)ATG>GTG		beta-2-microglobulin precursor							126.0	92.0	104.0					15																	45003745		2198	4298	6496	SO:0001582	initiator_codon_variant	567				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	g.chr15:45003745A>G	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.1A>G	15.37:g.45003745A>G	ENSP00000452780:p.Met1Val					B2M_uc010uek.1_Missense_Mutation_p.M1V|B2M_uc010bdx.1_Missense_Mutation_p.M1V	p.M1V	NM_004048	NP_004039	P61769	B2MG_HUMAN		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)	1	61	+		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	1					P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	ENST00000558401.1	37	c.1A>G	CCDS10113.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.836331	0.71373	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.01228	5.14	5.35	5.35	0.76521	.	.	.	.	.	T	0.02119	0.0066	.	.	.	0.80722	D	1	P;P;P	0.48407	0.86;0.91;0.78	B;B;B	0.41271	0.352;0.294;0.192	T	0.58912	-0.7552	8	0.87932	D	0	.	11.9	0.52678	1.0:0.0:0.0:0.0	.	1;1;1	F5H6I0;A6XMH4;P61769	.;.;B2MG_HUMAN	V	1	ENSP00000437604:M1V	ENSP00000340858:M1V	M	+	1	0	B2M	42791037	0.891000	0.30450	0.406000	0.26421	0.024000	0.10985	1.849000	0.39318	2.371000	0.80710	0.533000	0.62120	ATG		0.612	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048	Missense_Mutation	5	74	0	0	0	0	5	74				
HERC1	8925	broad.mit.edu	37	15	63942010	63942010	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr15:63942010C>T	ENST00000443617.2	-	54	10748	c.10661G>A	c.(10660-10662)cGg>cAg	p.R3554Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3554					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCCATCCATCCGTCCCACCAA	0.512																																						uc002amp.2		NA																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(10660-10662)CGG>CAG		hect domain and RCC1-like domain 1							124.0	109.0	114.0					15																	63942010		1994	4182	6176	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63942010C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.10661G>A	15.37:g.63942010C>T	ENSP00000390158:p.Arg3554Gln						p.R3554Q	NM_003922	NP_003913	Q15751	HERC1_HUMAN			54	10809	-			3554			WD 6.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.10661G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	37	6.334138	0.97485	.	.	ENSG00000103657	ENST00000443617	T	0.62639	0.01	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	U	0.000002	T	0.71567	0.3355	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.70872	-0.4754	10	0.48119	T	0.1	.	20.2019	0.98263	0.0:1.0:0.0:0.0	.	3554	Q15751	HERC1_HUMAN	Q	3554	ENSP00000390158:R3554Q	ENSP00000390158:R3554Q	R	-	2	0	HERC1	61729063	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.605000	0.82844	2.776000	0.95493	0.655000	0.94253	CGG		0.512	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		7	23	0	0	0	0	7	23				
SKOR1	390598	broad.mit.edu	37	15	68118861	68118861	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr15:68118861C>T	ENST00000380035.2	+	2	753	c.695C>T	c.(694-696)gCc>gTc	p.A232V	SKOR1_ENST00000341418.5_Missense_Mutation_p.A418V|SKOR1_ENST00000554054.1_Missense_Mutation_p.A204V|SKOR1_ENST00000389002.1_Missense_Mutation_p.A223V|SKOR1_ENST00000554240.1_Missense_Mutation_p.A193V			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	232					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						ACACCCGACGCCAAGTACACG	0.567																																						uc002aqy.1		NA																	0					0						c.(667-669)GCC>GTC		transcriptional corepressor Corl1							106.0	84.0	92.0					15																	68118861		2200	4298	6498	SO:0001583	missense	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68118861C>T		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.695C>T	15.37:g.68118861C>T	ENSP00000369374:p.Ala232Val						p.A223V	NM_001031807	NP_001026977	P84550	SKOR1_HUMAN			2	668	+			232					A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	ENST00000380035.2	37	c.668C>T		.	.	.	.	.	.	.	.	.	.	C	26.6	4.750910	0.89753	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T;T	0.73363	-0.74;-0.73;-0.73;-0.73;-0.74	4.48	4.48	0.54585	.	0.125660	0.53938	D	0.000044	T	0.77110	0.4082	L	0.35414	1.06	0.45676	D	0.998599	D	0.58268	0.982	P	0.60345	0.873	T	0.78969	-0.1994	10	0.52906	T	0.07	-20.1595	15.0234	0.71650	0.0:1.0:0.0:0.0	.	223	P84550-3	.	V	418;193;204;232;223	ENSP00000343200:A418V;ENSP00000451193:A193V;ENSP00000452361:A204V;ENSP00000369374:A232V;ENSP00000373654:A223V	ENSP00000343200:A418V	A	+	2	0	SKOR1	65905915	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.684000	0.84104	2.198000	0.70561	0.462000	0.41574	GCC		0.567	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		7	57	0	0	0	0	7	57				
CHD2	1106	broad.mit.edu	37	15	93518123	93518123	+	Silent	SNP	C	C	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr15:93518123C>A	ENST00000394196.4	+	20	3588	c.2520C>A	c.(2518-2520)tcC>tcA	p.S840S	CHD2_ENST00000557381.1_Silent_p.S840S	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	840	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGGATGGTTCCATCAAGGGAG	0.433																																						uc002bsp.2		NA																	0				ovary(1)|skin(1)	2						c.(2518-2520)TCC>TCA		chromodomain helicase DNA binding protein 2							157.0	133.0	141.0					15																	93518123		2197	4298	6495	SO:0001819	synonymous_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93518123C>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2520C>A	15.37:g.93518123C>A						CHD2_uc002bso.1_Silent_p.S840S|CHD2_uc010bog.1_Silent_p.S85S|CHD2_uc010boh.1_Silent_p.S34S	p.S840S	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		20	3095	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		840			Helicase C-terminal.		C6G482|Q96IP5	Silent	SNP	ENST00000394196.4	37	c.2520C>A	CCDS10374.2																																																																																				0.433	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		11	62	1	0	0.000308642	0.000325176	11	62				
RHBDL1	9028	broad.mit.edu	37	16	727018	727019	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr16:727018_727019GC>AA	ENST00000219551.2	+	3	696_697	c.669_670GC>AA	c.(667-672)ctGCag>ctAAag	p.Q224K	RHBDL1_ENST00000352681.3_Missense_Mutation_p.Q159K|LA16c-313D11.9_ENST00000567091.1_RNA|LA16c-313D11.9_ENST00000571933.1_RNA			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	224					signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				AGTGGGTGCTGCAGACCTACCA	0.639																																						uc002cis.1		NA																	0					0						c.(667-672)CTGCAG>CTAAAG		rhomboid protease 1																																				SO:0001583	missense	9028				proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	g.chr16:727018_727019GC>AA	Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"""rhomboid (veinlet, Drosophila)-like"""	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141	Exception_encountered	16.37:g.727018_727019delinsAA	ENSP00000219551:p.Gln224Lys					RHBDL1_uc002cir.1_Missense_Mutation_p.Q159K|RHBDL1_uc010uun.1_Missense_Mutation_p.Q159K	p.Q224K	NM_003961	NP_003952	O75783	RHBL1_HUMAN			3	696_697	+		Hepatocellular(780;0.0218)	224					A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Missense_Mutation	DNP	ENST00000219551.2	37	c.669_670GC>AA	CCDS10418.1																																																																																				0.639	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241619.1	NM_003961		8	63	0	0	0	0	8	63				
PLEKHG4	25894	broad.mit.edu	37	16	67318871	67318871	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr16:67318871C>A	ENST00000360461.5	+	12	4483	c.1948C>A	c.(1948-1950)Cca>Aca	p.P650T	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.P650T|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.P569T|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.P650T	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	650							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		ACTGAAGCTACCACCGGTGGG	0.667																																						uc002eso.3		NA																	0				skin(1)|pancreas(1)	2						c.(1948-1950)CCA>ACA		pleckstrin homology domain containing, family G							21.0	21.0	21.0					16																	67318871		2196	4294	6490	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67318871C>A	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1948C>A	16.37:g.67318871C>A	ENSP00000353646:p.Pro650Thr					PLEKHG4_uc002esp.3_Missense_Mutation_p.P457T|PLEKHG4_uc002esq.3_Missense_Mutation_p.P650T|PLEKHG4_uc010cef.2_Missense_Mutation_p.P650T|PLEKHG4_uc002ess.3_Missense_Mutation_p.P650T|PLEKHG4_uc010ceg.2_Missense_Mutation_p.P569T	p.P650T	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	12	4483	+			650					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.1948C>A	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	C	2.624	-0.287907	0.05605	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.09073	3.02;3.02;3.02;3.03	3.9	-0.563	0.11778	.	.	.	.	.	T	0.04634	0.0126	L	0.29908	0.895	0.09310	N	1	B;B	0.24426	0.103;0.035	B;B	0.25140	0.058;0.018	T	0.46233	-0.9206	9	0.13853	T	0.58	.	1.2676	0.02014	0.143:0.4206:0.161:0.2754	.	569;650	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	T	650;650;650;569	ENSP00000353646:P650T;ENSP00000401118:P650T;ENSP00000368649:P650T;ENSP00000398030:P569T	ENSP00000353646:P650T	P	+	1	0	PLEKHG4	65876372	0.000000	0.05858	0.017000	0.16124	0.062000	0.15995	-0.081000	0.11321	-0.257000	0.09459	-0.793000	0.03317	CCA		0.667	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		6	28	1	0	0.00198382	0.00207527	6	28				
CTCF	10664	broad.mit.edu	37	16	67650717	67650717	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr16:67650717G>A	ENST00000264010.4	+	5	1466	c.1022G>A	c.(1021-1023)cGt>cAt	p.R341H	CTCF_ENST00000401394.1_Missense_Mutation_p.R13H|AC009095.4_ENST00000388909.4_RNA	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	341					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GTTCGGCATCGTCGTTACAAA	0.488																																					Colon(175;1200 1966 6945 23069 27405)	uc002etl.2		NA																	0				ovary(1)	1						c.(1021-1023)CGT>CAT		CCCTC-binding factor							336.0	274.0	295.0					16																	67650717		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67650717G>A	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1022G>A	16.37:g.67650717G>A	ENSP00000264010:p.Arg341His					CTCF_uc010cek.2_Missense_Mutation_p.R13H	p.R341H	NM_006565	NP_006556	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	5	1312	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	341			C2H2-type 3.		B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1022G>A	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388993	0.82902	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.18502	2.21;2.21	4.89	4.89	0.63831	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.097133	0.43260	D	0.000599	T	0.35008	0.0917	L	0.41415	1.275	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.07462	-1.0771	10	0.72032	D	0.01	.	18.3148	0.90217	0.0:0.0:1.0:0.0	.	341	P49711	CTCF_HUMAN	H	341;13	ENSP00000264010:R341H;ENSP00000384707:R13H	ENSP00000264010:R341H	R	+	2	0	CTCF	66208218	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.397000	0.97276	2.553000	0.86117	0.558000	0.71614	CGT		0.488	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		26	276	0	0	0	0	26	276				
PRMT7	54496	broad.mit.edu	37	16	68382250	68382250	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr16:68382250C>G	ENST00000339507.5	+	14	2159	c.1329C>G	c.(1327-1329)ttC>ttG	p.F443L	PRMT7_ENST00000441236.1_Missense_Mutation_p.F393L|PRMT7_ENST00000449359.3_Missense_Mutation_p.F393L|PRMT7_ENST00000348497.4_Intron			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	443	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CTAAGATCTTCAAGGCTAACC	0.373																																						uc002evy.1		NA																	0					0						c.(1327-1329)TTC>TTG		protein arginine methyltransferase 7							71.0	73.0	72.0					16																	68382250		2198	4300	6498	SO:0001583	missense	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68382250C>G	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.1329C>G	16.37:g.68382250C>G	ENSP00000343103:p.Phe443Leu					PRMT7_uc002evx.1_Intron|PRMT7_uc010vlg.1_Missense_Mutation_p.F393L|PRMT7_uc002evz.1_Intron	p.F443L	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	14	1605	+		Ovarian(137;0.192)	443					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	c.1329C>G	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485628	0.26686	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000339507	T;T;T	0.20069	2.1;2.1;2.1	6.06	3.94	0.45596	.	0.054506	0.85682	D	0.000000	T	0.09818	0.0241	N	0.11341	0.13	0.80722	D	1	B;B	0.16802	0.019;0.001	B;B	0.14023	0.01;0.002	T	0.14309	-1.0477	10	0.31617	T	0.26	-20.4252	6.151	0.20313	0.0:0.7553:0.0:0.2447	.	393;443	Q9NVM4-3;Q9NVM4	.;ANM7_HUMAN	L	393;393;443	ENSP00000414716:F393L;ENSP00000409324:F393L;ENSP00000343103:F443L	ENSP00000343103:F443L	F	+	3	2	PRMT7	66939751	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.807000	0.27140	1.572000	0.49736	0.650000	0.86243	TTC		0.373	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		8	84	0	0	0	0	8	84				
ZNF594	84622	broad.mit.edu	37	17	5085805	5085805	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr17:5085805G>C	ENST00000399604.4	-	1	1887	c.1747C>G	c.(1747-1749)Ctc>Gtc	p.L583V	ZNF594_ENST00000575779.1_Missense_Mutation_p.L583V			Q96JF6	ZN594_HUMAN	zinc finger protein 594	583					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)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGTCTGATGAGGTCTGAGCTG	0.458																																						uc010cla.1		NA																	0				ovary(2)|skin(1)	3						c.(1747-1749)CTC>GTC		zinc finger protein 594							149.0	144.0	146.0					17																	5085805		2008	4204	6212	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5085805G>C	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1747C>G	17.37:g.5085805G>C	ENSP00000382513:p.Leu583Val						p.L583V	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	1903	-			583			C2H2-type 17.		Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.1747C>G	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	g	6.216	0.408006	0.11754	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.52983	0.64	1.04	1.04	0.20106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64821	0.2633	M	0.83692	2.655	0.09310	N	1	B	0.29232	0.238	P	0.50708	0.648	T	0.64339	-0.6431	9	0.66056	D	0.02	.	7.5491	0.27786	0.0:0.0:1.0:0.0	.	583	Q96JF6	ZN594_HUMAN	V	583;178	ENSP00000382513:L583V	ENSP00000373874:L178V	L	-	1	0	ZNF594	5026529	0.002000	0.14202	0.002000	0.10522	0.130000	0.20726	0.739000	0.26173	0.496000	0.27904	0.298000	0.19748	CTC		0.458	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		17	198	0	0	0	0	17	198				
MYH4	4622	broad.mit.edu	37	17	10354168	10354168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr17:10354168G>A	ENST00000255381.2	-	29	4020	c.3910C>T	c.(3910-3912)Cag>Tag	p.Q1304*	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1304					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CGGGATAGCTGAGAAACCATA	0.383																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(3910-3912)CAG>TAG		myosin, heavy polypeptide 4, skeletal muscle							162.0	148.0	152.0					17																	10354168		2203	4300	6503	SO:0001587	stop_gained	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10354168G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3910C>T	17.37:g.10354168G>A	ENSP00000255381:p.Gln1304*					uc002gml.1_Intron	p.Q1304*	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			29	4021	-			1304			Potential.			Nonsense_Mutation	SNP	ENST00000255381.2	37	c.3910C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	43	10.281467	0.99375	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.71	5.71	0.89125	.	0.000000	0.35772	U	0.002987	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9878	0.92779	0.0:0.0:1.0:0.0	.	.	.	.	X	1304	.	ENSP00000255381:Q1304X	Q	-	1	0	MYH4	10294893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.810000	0.99221	2.850000	0.98022	0.655000	0.94253	CAG		0.383	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		20	110	0	0	0	0	20	110				
STAT5B	6777	broad.mit.edu	37	17	40359614	40359614	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr17:40359614G>A	ENST00000293328.3	-	16	2207	c.2039C>T	c.(2038-2040)tCc>tTc	p.S680F		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	680	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GTAGTATTTGGAGTATACTTC	0.463																																						uc002hzh.2		NA																	0				ovary(3)|lung(2)|skin(1)	6						c.(2038-2040)TCC>TTC		signal transducer and activator of transcription	Dasatinib(DB01254)						184.0	164.0	171.0					17																	40359614		2203	4300	6503	SO:0001583	missense	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40359614G>A	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.2039C>T	17.37:g.40359614G>A	ENSP00000293328:p.Ser680Phe						p.S680F	NM_012448	NP_036580	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	16	2208	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	680			SH2.		Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	c.2039C>T	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747755	0.89663	.	.	ENSG00000173757	ENST00000293328	D	0.96885	-4.16	5.17	5.17	0.71159	SH2 motif (3);	0.145323	0.64402	D	0.000004	D	0.97077	0.9045	M	0.64404	1.975	0.80722	D	1	P	0.48089	0.905	P	0.54706	0.759	D	0.97504	1.0062	10	0.72032	D	0.01	0.0692	18.8692	0.92306	0.0:0.0:1.0:0.0	.	680	P51692	STA5B_HUMAN	F	680	ENSP00000293328:S680F	ENSP00000293328:S680F	S	-	2	0	STAT5B	37613140	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	9.580000	0.98207	2.692000	0.91855	0.655000	0.94253	TCC		0.463	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		18	145	0	0	0	0	18	145				
EZH1	2145	broad.mit.edu	37	17	40854917	40854917	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr17:40854917C>T	ENST00000428826.2	-	20	2282	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K	EZH1_ENST00000590783.1_5'Flank|EZH1_ENST00000585893.1_Missense_Mutation_p.E681K|EZH1_ENST00000415827.2_Missense_Mutation_p.E712K|EZH1_ENST00000435174.1_Missense_Mutation_p.E582K|EZH1_ENST00000592743.1_Missense_Mutation_p.E721K|EZH1_ENST00000590078.1_Missense_Mutation_p.E651K			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	721	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.			VVMVNGDHRIGIFAKRAIQAGEELFFDYRYSQADALKYVGI ERETDVL -> GESQ (in Ref. 2; BAA25019). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)	p.E721K(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		AAGAGCTCTTCGCCAGCTTGA	0.512																																						uc002iaz.2		NA																	1	Substitution - Missense(1)	p.E721K(1)	ovary(1)	ovary(3)	3						c.(2161-2163)GAA>AAA		enhancer of zeste homolog 1							184.0	177.0	179.0					17																	40854917		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40854917C>T		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.2161G>A	17.37:g.40854917C>T	ENSP00000404658:p.Glu721Lys					EZH1_uc002iba.2_Missense_Mutation_p.E712K|EZH1_uc010wgt.1_Missense_Mutation_p.E651K|EZH1_uc010wgu.1_Missense_Mutation_p.E727K|EZH1_uc010wgv.1_Missense_Mutation_p.E681K|EZH1_uc010wgw.1_Missense_Mutation_p.E582K	p.E721K	NM_001991	NP_001982	Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	20	2306	-		Breast(137;0.00104)	721	VVMVNGDHRIGIFAKRAIQAGEELFFDYRYSQADALKYVGI ERETDVL -> GESQ (in Ref. 2; BAA25019).		SET.		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.2161G>A	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	C	36	5.932485	0.97116	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.87334	-2.24;-2.24	5.38	5.38	0.77491	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.94879	0.8345	M	0.90309	3.105	0.80722	D	1	D;D;D;D	0.89917	1.0;0.989;0.989;0.991	D;P;P;P	0.77004	0.989;0.864;0.823;0.889	D	0.95156	0.8277	10	0.66056	D	0.02	.	19.3294	0.94280	0.0:1.0:0.0:0.0	.	582;681;727;721	Q92800-5;Q92800-3;Q92800-2;Q92800	.;.;.;EZH1_HUMAN	K	724;721;681;582	ENSP00000404658:E721K;ENSP00000404071:E582K	ENSP00000264646:E724K	E	-	1	0	EZH1	38108443	1.000000	0.71417	0.969000	0.41365	0.979000	0.70002	7.651000	0.83577	2.804000	0.96469	0.462000	0.41574	GAA		0.512	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		20	196	0	0	0	0	20	196				
OTOP2	92736	broad.mit.edu	37	17	72926892	72926892	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr17:72926892G>A	ENST00000580223.1	+	5	1192	c.1162G>A	c.(1162-1164)Gtg>Atg	p.V388M	OTOP2_ENST00000331427.4_Missense_Mutation_p.V388M			Q7RTS6	OTOP2_HUMAN	otopetrin 2	388						integral component of membrane (GO:0016021)		p.V388L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CTACTCCATCGTGGCTGTGGT	0.617																																						uc010wrp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1162-1164)GTG>ATG		otopetrin 2							67.0	58.0	61.0					17																	72926892		2203	4300	6503	SO:0001583	missense	92736					integral to membrane		g.chr17:72926892G>A	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1162G>A	17.37:g.72926892G>A	ENSP00000463837:p.Val388Met						p.V388M	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN			7	1251	+	all_lung(278;0.172)|Lung NSC(278;0.207)		388			Helical; (Potential).			Missense_Mutation	SNP	ENST00000580223.1	37	c.1162G>A	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541901	0.65198	.	.	ENSG00000183034	ENST00000331427	T	0.25912	1.77	5.47	5.47	0.80525	.	0.135123	0.50627	D	0.000103	T	0.50240	0.1604	M	0.76170	2.325	0.53005	D	0.999967	D	0.89917	1.0	D	0.85130	0.997	T	0.51293	-0.8724	10	0.66056	D	0.02	-16.1359	12.6937	0.56990	0.0755:0.0:0.9245:0.0	.	388	Q7RTS6	OTOP2_HUMAN	M	388	ENSP00000332528:V388M	ENSP00000332528:V388M	V	+	1	0	OTOP2	70438487	1.000000	0.71417	0.995000	0.50966	0.887000	0.51463	5.754000	0.68743	2.581000	0.87130	0.456000	0.33151	GTG		0.617	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		6	63	0	0	0	0	6	63				
EPB41L3	23136	broad.mit.edu	37	18	5489117	5489117	+	Silent	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr18:5489117C>T	ENST00000341928.2	-	2	406	c.66G>A	c.(64-66)gcG>gcA	p.A22A	EPB41L3_ENST00000540638.2_Silent_p.A22A|EPB41L3_ENST00000544123.1_Silent_p.A22A|EPB41L3_ENST00000342933.3_Silent_p.A22A|EPB41L3_ENST00000400111.3_Silent_p.A22A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	22					apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						gcgcccccgccgccTCCTGGG	0.682																																						uc002kmt.1		NA																	0				ovary(5)	5						c.(64-66)GCG>GCA		erythrocyte membrane protein band 4.1-like 3							19.0	22.0	21.0					18																	5489117		2145	4169	6314	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5489117C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.66G>A	18.37:g.5489117C>T						EPB41L3_uc010wzh.1_Silent_p.A22A|EPB41L3_uc002kmu.1_Silent_p.A22A|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Silent_p.A44A|EPB41L3_uc002kmv.1_5'UTR	p.A22A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			2	152	-			22					B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.66G>A	CCDS11838.1																																																																																				0.682	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		3	27	0	0	0	0	3	27				
ANKRD12	23253	broad.mit.edu	37	18	9255584	9255584	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr18:9255584G>C	ENST00000262126.4	+	9	2559	c.2319G>C	c.(2317-2319)gaG>gaC	p.E773D	ANKRD12_ENST00000400020.3_Missense_Mutation_p.E750D|ANKRD12_ENST00000383440.2_Missense_Mutation_p.E750D	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	773						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TAAAAGAAGAGAGAGAAAACA	0.348																																						uc002knv.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2317-2319)GAG>GAC		ankyrin repeat domain 12 isoform 1							71.0	75.0	74.0					18																	9255584		2199	4292	6491	SO:0001583	missense	23253					nucleus		g.chr18:9255584G>C	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2319G>C	18.37:g.9255584G>C	ENSP00000262126:p.Glu773Asp					ANKRD12_uc002knw.2_Missense_Mutation_p.E750D|ANKRD12_uc002knx.2_Missense_Mutation_p.E750D|ANKRD12_uc010dkx.1_Missense_Mutation_p.E480D	p.E773D	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			9	2576	+			773					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.2319G>C	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	9.625	1.134760	0.21123	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.52526	0.66;0.66	5.0	-0.271	0.12922	.	0.121118	0.53938	N	0.000046	T	0.38746	0.1052	M	0.62723	1.935	0.45515	D	0.998476	B;B;B	0.18863	0.011;0.031;0.018	B;B;B	0.16722	0.01;0.016;0.007	T	0.18398	-1.0338	10	0.59425	D	0.04	-12.0597	5.8558	0.18718	0.6323:0.1299:0.2378:0.0	.	400;750;773	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	D	750;773	ENSP00000372932:E750D;ENSP00000262126:E773D	ENSP00000262126:E773D	E	+	3	2	ANKRD12	9245584	0.950000	0.32346	0.996000	0.52242	0.970000	0.65996	0.325000	0.19628	0.019000	0.15079	0.460000	0.39030	GAG		0.348	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		7	64	0	0	0	0	7	64				
SMAD4	4089	broad.mit.edu	37	18	48573554	48573554	+	Silent	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr18:48573554G>A	ENST00000342988.3	+	2	676	c.138G>A	c.(136-138)aaG>aaA	p.K46K	SMAD4_ENST00000452201.2_Silent_p.K46K|SMAD4_ENST00000398417.2_Silent_p.K46K|SMAD4_ENST00000588745.1_Silent_p.K46K|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	46	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(5)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGTAAAGAAGCTGAAGGAGA	0.368																																						uc010xdp.1		NA																	41	Whole gene deletion(36)|Unknown(5)	p.0?(35)|p.?(5)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|oesophagus(1)|NS(1)	pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369						c.(136-138)AAG>AAA		mothers against decapentaplegic homolog 4							127.0	128.0	128.0					18																	48573554		2203	4300	6503	SO:0001819	synonymous_variant	4089	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48573554G>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.138G>A	18.37:g.48573554G>A						SMAD4_uc010xdo.1_RNA	p.K46K	NM_005359	NP_005350	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	2	676	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	46			MH1.		A8K405	Silent	SNP	ENST00000342988.3	37	c.138G>A	CCDS11950.1																																																																																				0.368	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		7	86	0	0	0	0	7	86				
DSEL	92126	broad.mit.edu	37	18	65178325	65178325	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr18:65178325A>G	ENST00000310045.7	-	2	5024	c.3551T>C	c.(3550-3552)aTa>aCa	p.I1184T	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1174					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AGTTGGTGATATTTCCCCTTC	0.363																																						uc002lke.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(3550-3552)ATA>ACA		dermatan sulfate epimerase-like							95.0	94.0	94.0					18																	65178325		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178325A>G	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3551T>C	18.37:g.65178325A>G	ENSP00000310565:p.Ile1184Thr						p.I1184T	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	4775	-		Esophageal squamous(42;0.129)	1174					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.3551T>C	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.160454	0.57368	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	D	0.83250	-1.7	4.82	3.67	0.42095	Sulfotransferase domain (1);	0.066462	0.56097	U	0.000036	T	0.80380	0.4612	M	0.66939	2.045	0.43234	D	0.995134	B	0.02656	0.0	B	0.10450	0.005	T	0.76666	-0.2875	10	0.87932	D	0	-17.0729	10.4829	0.44704	0.9227:0.0:0.0773:0.0	.	1174	Q8IZU8	DSEL_HUMAN	T	1184;1174	ENSP00000310565:I1184T	ENSP00000310565:I1184T	I	-	2	0	DSEL	63329305	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.163000	0.94750	0.801000	0.34066	0.533000	0.62120	ATA		0.363	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		10	66	0	0	0	0	10	66				
ZNF407	55628	broad.mit.edu	37	18	72344099	72344099	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr18:72344099C>A	ENST00000299687.5	+	1	1124	c.1124C>A	c.(1123-1125)cCt>cAt	p.P375H	ZNF407_ENST00000582337.1_Missense_Mutation_p.P375H|ZNF407_ENST00000577538.1_Missense_Mutation_p.P375H|ZNF407_ENST00000309902.6_Missense_Mutation_p.P375H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCTCAGAATCCTGAAAACCAG	0.413																																						uc002llw.2		NA																	0				ovary(2)	2						c.(1123-1125)CCT>CAT		zinc finger protein 407 isoform 1							72.0	72.0	72.0					18																	72344099		1842	4097	5939	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72344099C>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.1124C>A	18.37:g.72344099C>A	ENSP00000299687:p.Pro375His					ZNF407_uc010xfc.1_Missense_Mutation_p.P375H|ZNF407_uc010dqu.1_Missense_Mutation_p.P375H|ZNF407_uc002llu.2_Missense_Mutation_p.P374H	p.P375H	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	1181	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	375					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.1124C>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019772	0.75275	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.09723	2.95;3.39	5.53	2.62	0.31277	.	2.319520	0.05540	U	0.565642	T	0.17746	0.0426	L	0.46157	1.445	0.09310	N	1	D;D;P	0.67145	0.996;0.969;0.855	P;P;P	0.56216	0.794;0.719;0.533	T	0.17379	-1.0371	10	0.51188	T	0.08	.	1.7532	0.02976	0.1592:0.4275:0.2417:0.1716	.	375;375;375	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	H	375	ENSP00000299687:P375H;ENSP00000310359:P375H	ENSP00000299687:P375H	P	+	2	0	ZNF407	70473087	0.002000	0.14202	0.515000	0.27774	0.746000	0.42486	-0.165000	0.09968	1.037000	0.40024	0.528000	0.53228	CCT		0.413	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		6	82	1	0	0.000157383	0.000166409	6	82				
ATCAY	85300	broad.mit.edu	37	19	3920766	3920766	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr19:3920766C>G	ENST00000450849.2	+	12	1543	c.1076C>G	c.(1075-1077)tCt>tGt	p.S359C	RN7SL202P_ENST00000584410.1_RNA|ATCAY_ENST00000301260.6_Missense_Mutation_p.S359C|ATCAY_ENST00000398448.3_Missense_Mutation_p.S365C|ATCAY_ENST00000600960.1_Missense_Mutation_p.S359C	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	359	Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CTCCACAGGTCTGCTCTGGTC	0.418																																						uc002lyy.3		NA																	0				breast(1)	1						c.(1075-1077)TCT>TGT		caytaxin							84.0	93.0	90.0					19																	3920766		1961	4137	6098	SO:0001583	missense	85300				transport		protein binding	g.chr19:3920766C>G		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.1076C>G	19.37:g.3920766C>G	ENSP00000390941:p.Ser359Cys					ATCAY_uc010xhz.1_Missense_Mutation_p.S365C|ATCAY_uc010dts.2_Missense_Mutation_p.S116C	p.S359C	NM_033064	NP_149053	Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	12	1506	+		Hepatocellular(1079;0.137)	359					Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	c.1076C>G	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	c	7.377	0.627985	0.14257	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.39229	1.15;1.13;1.09	3.5	3.5	0.40072	.	4.390260	0.00649	U	0.000552	T	0.36880	0.0983	N	0.24115	0.695	0.23030	N	0.998404	P;B;P	0.45283	0.855;0.32;0.698	B;B;B	0.40285	0.258;0.325;0.112	T	0.46748	-0.9169	10	0.54805	T	0.06	.	12.1488	0.54038	0.0:1.0:0.0:0.0	.	365;359;359	B4DS11;Q86WG3-3;Q86WG3	.;.;ATCAY_HUMAN	C	359;359;359;365;337	ENSP00000390941:S359C;ENSP00000301260:S359C;ENSP00000381466:S365C	ENSP00000301260:S359C	S	+	2	0	ATCAY	3871766	0.536000	0.26378	0.929000	0.37066	0.053000	0.15095	1.369000	0.34227	1.694000	0.51137	0.580000	0.79431	TCT		0.418	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			4	34	0	0	0	0	4	34				
PLIN3	10226	broad.mit.edu	37	19	4847853	4847853	+	Silent	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr19:4847853C>T	ENST00000221957.4	-	6	860	c.684G>A	c.(682-684)caG>caA	p.Q228Q	PLIN3_ENST00000592528.1_Silent_p.Q216Q|PLIN3_ENST00000585479.1_Silent_p.Q228Q	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	228					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CCTGCCGCTGCTGCTGCACGG	0.617																																						uc002mbj.2		NA																	0					0						c.(682-684)CAG>CAA		mannose 6 phosphate receptor binding protein 1	Galsulfase(DB01279)|Idursulfase(DB01271)						45.0	36.0	39.0					19																	4847853		2203	4300	6503	SO:0001819	synonymous_variant	10226				vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	g.chr19:4847853C>T	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"""Perilipins"""	16893	protein-coding gene	gene with protein product	"""cargo selection protein (mannose 6 phosphate receptor binding protein)"", ""placental protein 17"", ""MPR-BINDING PROTEIN, 47-KD"""	602702	"""mannose-6-phosphate receptor binding protein 1"""	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.684G>A	19.37:g.4847853C>T						PLIN3_uc002mbk.2_Silent_p.Q216Q|PLIN3_uc002mbl.3_Silent_p.Q228Q	p.Q228Q	NM_005817	NP_005808	O60664	PLIN3_HUMAN			6	861	-			228					A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Silent	SNP	ENST00000221957.4	37	c.684G>A	CCDS12137.1																																																																																				0.617	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		3	23	0	0	0	0	3	23				
HNRNPM	4670	broad.mit.edu	37	19	8551952	8551952	+	Silent	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr19:8551952C>T	ENST00000325495.4	+	15	2063	c.2022C>T	c.(2020-2022)aaC>aaT	p.N674N	HNRNPM_ENST00000348943.3_Silent_p.N635N	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	674	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						ACAAATTCAACGAGTGCGGTA	0.517																																						uc010dwe.2		NA																	0					0						c.(2020-2022)AAC>AAT		heterogeneous nuclear ribonucleoprotein M							277.0	219.0	238.0					19																	8551952		2203	4300	6503	SO:0001819	synonymous_variant	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8551952C>T	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.2022C>T	19.37:g.8551952C>T						HNRNPM_uc010dwd.2_Silent_p.N635N|HNRNPM_uc002mka.2_Silent_p.N539N|HNRNPM_uc002mkb.1_5'Flank	p.N674N	NM_005968	NP_005959	P52272	HNRPM_HUMAN			15	2102	+			674			RRM 3.		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Silent	SNP	ENST00000325495.4	37	c.2022C>T	CCDS12203.1																																																																																				0.517	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			18	142	0	0	0	0	18	142				
CACNA1A	773	broad.mit.edu	37	19	13414687	13414687	+	Silent	SNP	G	G	A	rs373695561		TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr19:13414687G>A	ENST00000360228.5	-	16	1997	c.1998C>T	c.(1996-1998)ggC>ggT	p.G666G	CACNA1A_ENST00000573710.2_Silent_p.G667G	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	667			T -> M (in FHM1 and EA2; dbSNP:rs121908212). {ECO:0000269|PubMed:11439943, ECO:0000269|PubMed:14718690, ECO:0000269|PubMed:8898206}.		adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCAGTCTTCGCCCGTCAGGA	0.592																																						uc010dze.2		NA																	0				large_intestine(2)	2						c.(1999-2001)GGC>GGT		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	G	,,,,	1,4019		0,1,2009	128.0	131.0	130.0		2001,2001,1998,2001,2001	-6.3	0.9	19		130	1,8339		0,1,4169	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	0,2,6178	AA,AG,GG		0.012,0.0249,0.0162	,,,,	667/2267,667/2262,666/2507,667/2264,667/2513	13414687	2,12358	2010	4170	6180	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13414687G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1998C>T	19.37:g.13414687G>A						CACNA1A_uc010dzc.2_Silent_p.G192G|CACNA1A_uc002mwy.3_Silent_p.G666G|CACNA1A_uc010xne.1_Silent_p.G192G	p.G667G	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		16	2237	-			667			Extracellular (Potential).|II.		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.2001C>T	CCDS45998.1																																																																																				0.592	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		18	159	0	0	0	0	18	159				
ZNF302	55900	broad.mit.edu	37	19	35173684	35173684	+	Silent	SNP	G	G	A	rs149807567	byFrequency	TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr19:35173684G>A	ENST00000446502.2	+	4	352	c.144G>A	c.(142-144)gtG>gtA	p.V48V	ZNF302_ENST00000509528.1_Intron|ZNF302_ENST00000457781.2_Silent_p.V4V|ZNF302_ENST00000507959.1_Silent_p.V4V|ZNF302_ENST00000423823.2_Silent_p.V4V|ZNF302_ENST00000505365.2_Silent_p.V4V|ZNF302_ENST00000505242.1_Silent_p.V4V			Q9NR11	ZN302_HUMAN	zinc finger protein 302	4	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)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TATTTCAGGTGACATTTAGTG	0.433																																						uc002nvr.1		NA																	0					0						c.(142-144)GTG>GTA		zinc finger protein 302							57.0	51.0	53.0					19																	35173684		1833	4079	5912	SO:0001819	synonymous_variant	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35173684G>A	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.144G>A	19.37:g.35173684G>A						ZNF302_uc010xrz.1_Silent_p.V4V|ZNF302_uc002nvp.1_Silent_p.V4V|ZNF302_uc002nvq.1_Silent_p.V4V|ZNF302_uc002nvs.1_Silent_p.V4V	p.V48V	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	407	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		Error:Variant_position_missing_in_Q9NR11_after_alignment					Q658J3|Q9BZD8|Q9P0J4	Silent	SNP	ENST00000446502.2	37	c.144G>A																																																																																					0.433	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			7	64	0	0	0	0	7	64				
TRAPPC6A	79090	broad.mit.edu	37	19	45681407	45681407	+	Missense_Mutation	SNP	C	C	G	rs377546640		TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr19:45681407C>G	ENST00000585934.1	-	1	88	c.70G>C	c.(70-72)Gac>Cac	p.D24H	BLOC1S3_ENST00000433642.2_5'Flank|TRAPPC6A_ENST00000588062.1_Missense_Mutation_p.D24H|TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.D24H|AC005779.2_ENST00000593083.1_5'Flank|TRAPPC6A_ENST00000006275.4_Missense_Mutation_p.D24H|BLOC1S3_ENST00000587722.1_5'Flank	NM_001270891.1	NP_001257820.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	24					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		GGGCCGGGGTCGGGGTCGTGA	0.682																																						uc002paw.2		NA																	0					0						c.(70-72)GAC>CAC		SubName: Full=TRAPPC6Adelta29-42; SubName: Full=Trafficking protein particle complex 6A, isoform CRA_a;		C	HIS/ASP	1,4401		0,1,2200	37.0	37.0	37.0		70	3.9	0.9	19		37	0,8592		0,0,4296	no	missense	TRAPPC6A	NM_024108.1	81	0,1,6496	GG,GC,CC		0.0,0.0227,0.0077	benign	24/174	45681407	1,12993	2201	4296	6497	SO:0001583	missense	79090				vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	g.chr19:45681407C>G	AF161407	CCDS12655.1, CCDS59395.1, CCDS59396.1, CCDS59397.1	19q13.32	2012-10-02				ENSG00000007255		"""Trafficking protein particle complex"""	23069	protein-coding gene	gene with protein product		610396					Standard	NM_024108		Approved	TRS33, MGC2650, HSPC289	uc002pav.4	O75865		ENST00000585934.1:c.70G>C	19.37:g.45681407C>G	ENSP00000468612:p.Asp24His					TRAPPC6A_uc002pav.2_Missense_Mutation_p.D24H|BLOC1S3_uc002pax.3_5'Flank	p.D24H			O75865	TPC6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)	1	89	-		all_neural(266;0.224)|Ovarian(192;0.231)	24					K7ERB1|K7ERQ4|Q9BQ45|Q9P092	Missense_Mutation	SNP	ENST00000585934.1	37	c.70G>C	CCDS59397.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641336	0.67244	2.27E-4	0.0	ENSG00000007255	ENST00000006275	.	.	.	4.92	3.86	0.44501	NO signalling/Golgi transport  ligand-binding domain (1);	0.557184	0.18429	N	0.141502	T	0.52597	0.1744	M	0.74647	2.275	0.26253	N	0.978698	B;B	0.33919	0.009;0.432	B;B	0.39904	0.012;0.313	T	0.52719	-0.8538	9	0.56958	D	0.05	-18.8924	11.7236	0.51696	0.0:0.8209:0.1791:0.0	.	24;24	O75865;O75865-2	TPC6A_HUMAN;.	H	24	.	ENSP00000006275:D24H	D	-	1	0	TRAPPC6A	50373247	0.968000	0.33430	0.925000	0.36789	0.899000	0.52679	3.327000	0.52045	1.350000	0.45770	0.491000	0.48974	GAC		0.682	TRAPPC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457556.1	NM_024108		5	43	0	0	0	0	5	43				
PPP2R1A	5518	broad.mit.edu	37	19	52715983	52715983	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr19:52715983G>A	ENST00000322088.6	+	5	606	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128Q|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4Q	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R183Q(10)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ATGGTGCGGCGGGCCGCAGCC	0.617			Mis		clear cell ovarian carcinoma																																	uc002pyp.2		NA		Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		10	Substitution - Missense(10)	p.R183W(16)|p.R183Q(7)|p.R183G(2)	ovary(6)|endometrium(2)|prostate(1)|large_intestine(1)	endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(547-549)CGG>CAG		alpha isoform of regulatory subunit A, protein							75.0	60.0	65.0					19																	52715983		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52715983G>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.548G>A	19.37:g.52715983G>A	ENSP00000324804:p.Arg183Gln					PPP2R1A_uc010ydk.1_Missense_Mutation_p.R128Q|PPP2R1A_uc010epm.1_Missense_Mutation_p.R223Q|PPP2R1A_uc002pyq.2_Missense_Mutation_p.R4Q	p.R183Q	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	707	+			183			PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 5.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.548G>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	36	5.603708	0.96626	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06294	3.32;3.32	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.114427	0.37136	N	0.002231	T	0.36690	0.0976	H	0.96333	3.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.72982	0.979;0.859;0.859	T	0.55218	-0.8175	10	0.87932	D	0	-15.4468	15.1188	0.72426	0.0:0.0:1.0:0.0	.	128;183;183	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	Q	173;103;183;128	ENSP00000324804:R183Q;ENSP00000415067:R128Q	ENSP00000324804:R183Q	R	+	2	0	PPP2R1A	57407795	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.489000	0.90461	2.503000	0.84419	0.655000	0.94253	CGG		0.617	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		15	66	0	0	0	0	15	66				
NLRP5	126206	broad.mit.edu	37	19	56539838	56539838	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr19:56539838G>C	ENST00000390649.3	+	7	2239	c.2239G>C	c.(2239-2241)Gat>Cat	p.D747H		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	747					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTTCCCAAGAGATGAGTCCGC	0.517																																						uc002qmj.2		NA																	0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(2239-2241)GAT>CAT		NACHT, LRR and PYD containing protein 5							149.0	150.0	150.0					19																	56539838		2030	4195	6225	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539838G>C	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2239G>C	19.37:g.56539838G>C	ENSP00000375063:p.Asp747His					NLRP5_uc002qmi.2_Missense_Mutation_p.D728H	p.D747H	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	2239	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	747			LRR 2.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2239G>C	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784324	0.31593	.	.	ENSG00000171487	ENST00000390649	D	0.88201	-2.35	2.98	0.791	0.18619	.	0.199136	0.25124	N	0.032941	D	0.89989	0.6875	M	0.64404	1.975	0.09310	N	1	D	0.61080	0.989	D	0.63192	0.912	T	0.80690	-0.1270	10	0.66056	D	0.02	.	4.3934	0.11351	0.1334:0.2324:0.6342:0.0	.	747	P59047	NALP5_HUMAN	H	747	ENSP00000375063:D747H	ENSP00000375063:D747H	D	+	1	0	NLRP5	61231650	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.237000	0.17985	0.297000	0.22615	0.561000	0.74099	GAT		0.517	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		20	209	0	0	0	0	20	209				
PLEKHH2	130271	broad.mit.edu	37	2	43984289	43984289	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr2:43984289C>T	ENST00000282406.4	+	26	3937	c.3827C>T	c.(3826-3828)tCa>tTa	p.S1276L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1276	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGACCTTTCTCAACTCCAGCA	0.333																																						uc010yny.1		NA																	0				skin(2)|central_nervous_system(1)	3						c.(3826-3828)TCA>TTA		pleckstrin homology domain containing, family H							67.0	74.0	71.0					2																	43984289		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43984289C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3827C>T	2.37:g.43984289C>T	ENSP00000282406:p.Ser1276Leu						p.S1276L	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			26	3910	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1276			FERM.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.3827C>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860286	0.71834	.	.	ENSG00000152527	ENST00000282406	T	0.71222	-0.55	4.89	4.89	0.63831	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.214390	0.41712	D	0.000834	T	0.57814	0.2079	N	0.16903	0.455	0.58432	D	0.999997	B	0.19583	0.037	B	0.29077	0.098	T	0.57763	-0.7755	10	0.51188	T	0.08	-14.3693	13.1468	0.59467	0.1599:0.8401:0.0:0.0	.	1276	Q8IVE3	PKHH2_HUMAN	L	1276	ENSP00000282406:S1276L	ENSP00000282406:S1276L	S	+	2	0	PLEKHH2	43837793	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.500000	0.53318	2.266000	0.75297	0.650000	0.86243	TCA		0.333	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		6	84	0	0	0	0	6	84				
SCTR	6344	broad.mit.edu	37	2	120194495	120194495	+	IGR	SNP	C	C	T	rs141678483	byFrequency	TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr2:120194495C>T	ENST00000019103.5	-	0	1865				TMEM37_ENST00000409826.1_Missense_Mutation_p.R30C|TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000306406.4_Missense_Mutation_p.R18C	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AAGGCAGCCCCGCCGGTCCTT	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		15890	0.001		0.0	False		,,,				2504	0.001					uc002tly.2		NA																	0				breast(1)	1						c.(52-54)CGC>TGC		transmembrane protein 37		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	47.0	50.0	49.0		52	3.1	0.9	2	dbSNP_134	49	0,8600		0,0,4300	no	missense	TMEM37	NM_183240.2	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	18/191	120194495	2,13004	2203	4300	6503	SO:0001628	intergenic_variant	140738					integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr2:120194495C>T		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194495C>T							p.R18C	NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN			2	86	+			18					Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	c.52C>T	CCDS2127.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.830	0.939589	0.18281	4.54E-4	0.0	ENSG00000171227	ENST00000409826;ENST00000306406	.	.	.	4.93	3.06	0.35304	.	1.223480	0.05613	N	0.578383	T	0.17746	0.0426	N	0.02011	-0.69	0.23926	N	0.996448	B	0.16396	0.017	B	0.06405	0.002	T	0.12785	-1.0534	9	0.52906	T	0.07	-7.4281	9.2108	0.37318	0.1437:0.7791:0.0:0.0772	.	18	Q8WXS4	CCGL_HUMAN	C	30;18	.	ENSP00000303148:R18C	R	+	1	0	TMEM37	119910965	0.000000	0.05858	0.852000	0.33557	0.346000	0.29079	0.025000	0.13577	1.304000	0.44892	-0.137000	0.14449	CGC		0.612	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			12	73	0	0	0	0	12	73				
MYO7B	4648	broad.mit.edu	37	2	128389183	128389183	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr2:128389183C>T	ENST00000409816.2	+	36	5058	c.5026C>T	c.(5026-5028)Cgg>Tgg	p.R1676W	MYO7B_ENST00000389524.4_Missense_Mutation_p.R1677W|MYO7B_ENST00000428314.1_Missense_Mutation_p.R1676W|MYO7B_ENST00000409090.1_Missense_Mutation_p.R529W			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1676	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACCCATCCTCCGGTACATGGG	0.677																																						uc002top.2		NA																	0				ovary(1)|pancreas(1)	2						c.(5026-5028)CGG>TGG		myosin VIIB							44.0	50.0	48.0					2																	128389183		2202	4300	6502	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128389183C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5026C>T	2.37:g.128389183C>T	ENSP00000386461:p.Arg1676Trp					MYO7B_uc002tos.1_5'Flank|MYO7B_uc002tot.2_5'Flank	p.R1676W	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	37	5079	+	Colorectal(110;0.1)		1676			MyTH4 2.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.5026C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	c	19.76	3.887468	0.72410	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	D;D;D;D	0.88431	-2.38;-2.37;-2.37;-2.2	5.45	3.09	0.35607	MyTH4 domain (2);	0.630931	0.15811	N	0.243485	D	0.91116	0.7203	M	0.86864	2.845	0.31588	N	0.654296	D	0.69078	0.997	P	0.46452	0.517	D	0.90111	0.4192	10	0.87932	D	0	.	12.4248	0.55540	0.7045:0.2955:0.0:0.0	.	1676	Q6PIF6	MYO7B_HUMAN	W	1677;1676;772;1676;529	ENSP00000374175:R1677W;ENSP00000415090:R1676W;ENSP00000386461:R1676W;ENSP00000386850:R529W	ENSP00000272666:R772W	R	+	1	2	MYO7B	128105653	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	4.128000	0.57951	0.373000	0.24621	-0.457000	0.05445	CGG		0.677	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		7	34	0	0	0	0	7	34				
PKP4	8502	broad.mit.edu	37	2	159535144	159535144	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr2:159535144G>C	ENST00000389759.3	+	21	3420	c.3308G>C	c.(3307-3309)aGa>aCa	p.R1103T	AC005042.4_ENST00000342892.4_RNA|AC005042.4_ENST00000442666.1_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.R1060T	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1103					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TCACCAGCAAGAGAACAAAAT	0.383										HNSCC(62;0.18)																												uc002tzv.2		NA																	0				ovary(5)|skin(2)	7						c.(3307-3309)AGA>ACA		plakophilin 4 isoform a							49.0	49.0	49.0					2																	159535144		2203	4298	6501	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159535144G>C	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3308G>C	2.37:g.159535144G>C	ENSP00000374409:p.Arg1103Thr	HNSCC(62;0.18)				PKP4_uc002tzw.2_Missense_Mutation_p.R1060T|PKP4_uc002tzx.2_Missense_Mutation_p.R760T|PKP4_uc002uaa.2_Missense_Mutation_p.R912T|uc002uab.1_Intron|PKP4_uc002uac.2_Missense_Mutation_p.R284T|PKP4_uc002uad.2_RNA	p.R1103T	NM_003628	NP_003619	Q99569	PKP4_HUMAN			21	3568	+			1103					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.3308G>C	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999612	0.54147	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.74315	-0.83;-0.83	5.83	5.83	0.93111	.	0.182257	0.50627	D	0.000104	T	0.62696	0.2449	N	0.19112	0.55	0.58432	D	0.999991	B;B;B	0.18741	0.03;0.019;0.03	B;B;B	0.12156	0.007;0.007;0.007	T	0.56774	-0.7923	10	0.15952	T	0.53	-13.0107	20.1184	0.97949	0.0:0.0:1.0:0.0	.	1058;1060;1103	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	T	1060;1103	ENSP00000374407:R1060T;ENSP00000374409:R1103T	ENSP00000374407:R1060T	R	+	2	0	PKP4	159243390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.971000	0.76105	2.769000	0.95229	0.655000	0.94253	AGA		0.383	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			18	71	0	0	0	0	18	71				
CASP8	841	broad.mit.edu	37	2	202149644	202149644	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr2:202149644A>G	ENST00000432109.2	+	9	1097	c.908A>G	c.(907-909)gAc>gGc	p.D303G	CASP8_ENST00000264274.9_Missense_Mutation_p.D219G|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.D320G|CASP8_ENST00000323492.7_Missense_Mutation_p.D288G|CASP8_ENST00000358485.4_Missense_Mutation_p.D362G	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	303					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CAACTCATGGACCACAGTAAC	0.473										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(907-909)GAC>GGC		caspase 8 isoform B precursor							168.0	145.0	153.0					2																	202149644		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202149644A>G	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.908A>G	2.37:g.202149644A>G	ENSP00000412523:p.Asp303Gly	HNSCC(4;0.00038)				CASP8_uc002uxp.1_Missense_Mutation_p.D320G|CASP8_uc002uxq.1_Missense_Mutation_p.D288G|CASP8_uc002uxt.1_Missense_Mutation_p.D362G|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Missense_Mutation_p.D288G|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Missense_Mutation_p.D219G	p.D303G	NM_033355	NP_203519	Q14790	CASP8_HUMAN			9	1117	+			303					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.908A>G	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.918443	0.73098	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0	5.68	4.48	0.54585	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.253869	0.45606	D	0.000360	T	0.81688	0.4875	M	0.91140	3.18	0.80722	D	1	D;P;D;B;P	0.61080	0.985;0.943;0.989;0.247;0.943	P;P;D;B;P	0.70487	0.881;0.716;0.969;0.445;0.716	D	0.85704	0.1315	10	0.72032	D	0.01	.	12.9753	0.58534	0.8655:0.1345:0.0:0.0	.	219;362;303;288;320	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	G	288;219;303;320;362;288;82	ENSP00000376091:D288G;ENSP00000264274:D219G;ENSP00000412523:D303G;ENSP00000264275:D320G;ENSP00000351273:D362G;ENSP00000325722:D288G;ENSP00000394434:D82G	ENSP00000264274:D219G	D	+	2	0	CASP8	201857889	1.000000	0.71417	0.930000	0.37139	0.494000	0.33585	4.822000	0.62686	2.170000	0.68504	0.459000	0.35465	GAC		0.473	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		30	136	0	0	0	0	30	136				
AGAP1	116987	broad.mit.edu	37	2	237032621	237032621	+	Missense_Mutation	SNP	G	G	A	rs150891900		TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr2:237032621G>A	ENST00000304032.8	+	18	3009	c.2429G>A	c.(2428-2430)cGg>cAg	p.R810Q	AGAP1_ENST00000409538.1_Missense_Mutation_p.R1022Q|AGAP1_ENST00000428334.2_Missense_Mutation_p.R649Q|AGAP1_ENST00000336665.5_Missense_Mutation_p.R757Q	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	810					protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GCCTACGCCCGGCAGGCCTCC	0.637																																						uc002vvs.2		NA																	0				ovary(2)|skin(1)	3						c.(2428-2430)CGG>CAG		centaurin, gamma 2 isoform 1		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	53.0	56.0	55.0		2429,2270	4.3	1.0	2	dbSNP_134	55	0,8600		0,0,4300	no	missense,missense	AGAP1	NM_001037131.2,NM_014914.4	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	810/858,757/805	237032621	1,13005	2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:237032621G>A	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.2429G>A	2.37:g.237032621G>A	ENSP00000307634:p.Arg810Gln					AGAP1_uc002vvt.2_Missense_Mutation_p.R757Q	p.R810Q	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN			18	3024	+			810			ANK 2.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.2429G>A	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790435	0.70337	2.27E-4	0.0	ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	4.3	4.3	0.51218	Ankyrin repeat-containing domain (4);	0.203630	0.40222	N	0.001144	T	0.45276	0.1334	N	0.17474	0.49	0.58432	D	0.999993	B;P	0.42757	0.324;0.789	B;B	0.40864	0.057;0.342	T	0.46484	-0.9188	10	0.42905	T	0.14	.	10.466	0.44607	0.0909:0.0:0.9091:0.0	.	757;810	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	Q	810;757;1022;649	ENSP00000307634:R810Q;ENSP00000338378:R757Q;ENSP00000386897:R1022Q;ENSP00000411824:R649Q	ENSP00000307634:R810Q	R	+	2	0	AGAP1	236697360	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.775000	0.85489	1.950000	0.56595	0.655000	0.94253	CGG		0.637	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		6	71	0	0	0	0	6	71				
SLX4IP	128710	broad.mit.edu	37	20	10604013	10604013	+	Missense_Mutation	SNP	G	G	A	rs373901401		TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr20:10604013G>A	ENST00000334534.5	+	8	1393	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	405								p.E405*(1)									AAAGAAATACGAAAGAGGCCA	0.448																																						uc010zre.1		NA																	1	Substitution - Nonsense(1)		kidney(1)		0						c.(1213-1215)GAA>AAA		hypothetical protein LOC128710		G	LYS/GLU	1,4403		0,1,2201	40.0	42.0	41.0		1213	-0.8	0.0	20		41	0,8594		0,0,4297	no	missense	C20orf94	NM_001009608.1	56	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign	405/409	10604013	1,12997	2202	4297	6499	SO:0001583	missense	128710						protein binding	g.chr20:10604013G>A	AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"""chromosome 20 open reading frame 94"""	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.1213G>A	20.37:g.10604013G>A	ENSP00000335557:p.Glu405Lys						p.E405K	NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN			8	1393	+			405					Q05CG2|Q05CT9	Missense_Mutation	SNP	ENST00000334534.5	37	c.1213G>A	CCDS33439.1	.	.	.	.	.	.	.	.	.	.	G	9.332	1.060712	0.19987	2.27E-4	0.0	ENSG00000149346	ENST00000334534	T	0.47177	0.85	3.49	-0.832	0.10785	.	2.149940	0.02129	N	0.056225	T	0.27489	0.0675	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.06770	-1.0808	10	0.22706	T	0.39	0.4618	2.3964	0.04391	0.3357:0.0:0.207:0.4573	.	405	Q5VYV7	CT094_HUMAN	K	405	ENSP00000335557:E405K	ENSP00000335557:E405K	E	+	1	0	C20orf94	10552013	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.249000	0.08842	-0.092000	0.12417	0.650000	0.86243	GAA		0.448	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3	NM_001009608		6	63	0	0	0	0	6	63				
SEC23B	10483	broad.mit.edu	37	20	18491571	18491571	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr20:18491571C>T	ENST00000336714.3	+	2	524	c.92C>T	c.(91-93)gCt>gTt	p.A31V	SEC23B_ENST00000377465.1_Missense_Mutation_p.A31V|SEC23B_ENST00000262544.2_Missense_Mutation_p.A31V|SEC23B_ENST00000377475.3_Missense_Mutation_p.A31V	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	31					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CGGCTGGAGGCTACAAGAATG	0.502																																						uc002wqz.1		NA																	0				ovary(1)	1						c.(91-93)GCT>GTT		Sec23 homolog B							165.0	143.0	151.0					20																	18491571		2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18491571C>T	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.92C>T	20.37:g.18491571C>T	ENSP00000338844:p.Ala31Val					SEC23B_uc002wra.1_Missense_Mutation_p.A31V|SEC23B_uc002wrb.1_Missense_Mutation_p.A31V|SEC23B_uc010zsb.1_Missense_Mutation_p.A31V|SEC23B_uc002wrc.1_Missense_Mutation_p.A31V	p.A31V	NM_006363	NP_006354	Q15437	SC23B_HUMAN			2	535	+			31					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.92C>T	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242803	0.95272	.	.	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.92821	0.7717	M	0.84433	2.695	0.80722	D	1	D;D	0.71674	0.998;0.981	D;D	0.68765	0.96;0.917	D	0.93744	0.7053	10	0.87932	D	0	-17.8438	17.6495	0.88159	0.0:1.0:0.0:0.0	.	31;31	B4DJW8;Q15437	.;SC23B_HUMAN	V	31	ENSP00000403971:A31V;ENSP00000338844:A31V;ENSP00000262544:A31V;ENSP00000366695:A31V;ENSP00000366685:A31V	ENSP00000262544:A31V	A	+	2	0	SEC23B	18439571	1.000000	0.71417	0.990000	0.47175	0.664000	0.39144	7.609000	0.82925	2.657000	0.90304	0.655000	0.94253	GCT		0.502	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			8	103	0	0	0	0	8	103				
ATP9A	10079	broad.mit.edu	37	20	50255990	50255990	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr20:50255990G>C	ENST00000338821.5	-	15	1824	c.1560C>G	c.(1558-1560)gaC>gaG	p.D520E	ATP9A_ENST00000311637.5_Missense_Mutation_p.D384E|ATP9A_ENST00000402822.1_Missense_Mutation_p.D399E	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	520					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGGAAGACTGGTCTCGGCCCA	0.542											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xwg.1		NA																	0				ovary(4)	4						c.(1558-1560)GAC>GAG		ATPase, class II, type 9A							135.0	108.0	117.0					20																	50255990		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50255990G>C	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1560C>G	20.37:g.50255990G>C	ENSP00000342481:p.Asp520Glu		OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	ATP9A_uc010gih.1_Missense_Mutation_p.D384E|ATP9A_uc002xwf.1_Intron	p.D520E	NM_006045	NP_006036	O75110	ATP9A_HUMAN			15	1560	-			520			Cytoplasmic (Potential).		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.1560C>G	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070801	0.55539	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.64991	-0.13;-0.13;-0.13	5.26	3.08	0.35506	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.72252	0.3437	M	0.64567	1.98	0.80722	D	1	D;B	0.61697	0.99;0.2	D;B	0.73380	0.98;0.323	T	0.73350	-0.4010	10	0.87932	D	0	-42.7099	8.4656	0.32953	0.2948:0.0:0.7052:0.0	.	399;520	O75110-2;O75110	.;ATP9A_HUMAN	E	384;520;399	ENSP00000309086:D384E;ENSP00000342481:D520E;ENSP00000385875:D399E	ENSP00000309086:D384E	D	-	3	2	ATP9A	49689397	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.734000	0.55037	1.209000	0.43321	0.609000	0.83330	GAC		0.542	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		7	89	0	0	0	0	7	89				
MOV10L1	54456	broad.mit.edu	37	22	50580618	50580618	+	Splice_Site	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr22:50580618G>A	ENST00000262794.5	+	16	2262	c.2179G>A	c.(2179-2181)Gta>Ata	p.V727I	MOV10L1_ENST00000540615.1_Splice_Site_p.V707I|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Splice_Site_p.V727I|MOV10L1_ENST00000545383.1_Splice_Site_p.V727I	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	727					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GAGCGATTGGGGTATGTGCTC	0.547											OREG0026672	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003bjj.2		NA																	0				ovary(2)|skin(1)	3						c.(2179-2181)GTA>ATA		MOV10-like 1 isoform 1							77.0	60.0	65.0					22																	50580618		2203	4300	6503	SO:0001630	splice_region_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50580618G>A	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2179+1G>A	22.37:g.50580618G>A			OREG0026672	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	970	MOV10L1_uc003bjk.3_Missense_Mutation_p.V727I|MOV10L1_uc011arp.1_Missense_Mutation_p.V707I|MOV10L1_uc011arq.1_Missense_Mutation_p.V488I|MOV10L1_uc010hao.1_RNA	p.V727I	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	16	2262	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	727					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.2179G>A	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379895	0.24944	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.85955	-1.86;-1.86;-1.46;-2.05	3.56	2.52	0.30459	.	0.724108	0.13569	N	0.378227	T	0.71937	0.3399	N	0.17082	0.46	0.80722	D	1	B;B;B;B	0.21071	0.051;0.001;0.0;0.001	B;B;B;B	0.16289	0.015;0.004;0.002;0.002	T	0.64939	-0.6289	10	0.36615	T	0.2	-0.4485	8.5253	0.33302	0.0:0.0:0.7712:0.2288	.	488;707;727;727	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	I	727;727;727;707	ENSP00000438978:V727I;ENSP00000262794:V727I;ENSP00000379199:V727I;ENSP00000438542:V707I	ENSP00000262794:V727I	V	+	1	0	MOV10L1	48922745	0.360000	0.24964	0.008000	0.14137	0.015000	0.08874	0.688000	0.25422	1.062000	0.40625	0.591000	0.81541	GTA		0.547	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	Missense_Mutation	8	36	0	0	0	0	8	36				
TRIM71	131405	broad.mit.edu	37	3	32933083	32933083	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr3:32933083G>A	ENST00000383763.5	+	4	2450	c.2387G>A	c.(2386-2388)cGc>cAc	p.R796H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	796					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGTTCCTGCGCCCACAAGGG	0.592																																						uc003cff.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(2386-2388)CGC>CAC		tripartite motif-containing 71							64.0	69.0	67.0					3																	32933083		2029	4199	6228	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32933083G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2387G>A	3.37:g.32933083G>A	ENSP00000373272:p.Arg796His						p.R796H	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			4	2450	+			796			NHL 5.			Missense_Mutation	SNP	ENST00000383763.5	37	c.2387G>A	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118301	0.56505	.	.	ENSG00000206557	ENST00000383763	T	0.72282	-0.64	5.81	5.81	0.92471	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.73011	-0.4117	10	0.15952	T	0.53	-25.8896	18.6466	0.91413	0.0:0.0:1.0:0.0	.	796	Q2Q1W2	LIN41_HUMAN	H	796	ENSP00000373272:R796H	ENSP00000373272:R796H	R	+	2	0	TRIM71	32908087	1.000000	0.71417	0.965000	0.40720	0.119000	0.20118	9.762000	0.98944	2.744000	0.94065	0.655000	0.94253	CGC		0.592	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		9	74	0	0	0	0	9	74				
FAM107A	11170	broad.mit.edu	37	3	58555543	58555543	+	Silent	SNP	C	C	G			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr3:58555543C>G	ENST00000394481.1	-	3	603	c.45G>C	c.(43-45)ctG>ctC	p.L15L	RP11-475O23.2_ENST00000472513.1_RNA|FAM107A_ENST00000360997.2_Silent_p.L15L|FAM107A_ENST00000464064.1_Silent_p.L15L|FAM107A_ENST00000474531.1_Silent_p.L46L|FAM107A_ENST00000447756.2_Silent_p.L43L	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	15			L -> M (in ovarian cancer and renal cell carcinoma cell lines). {ECO:0000269|PubMed:10564580}.		regulation of cell growth (GO:0001558)	neuron projection (GO:0043005)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		GCCGGGCCATCAGGCCCCCAA	0.597																																						uc003dkm.2		NA																	0					0						c.(43-45)CTG>CTC		downregulated in renal cell carcinoma							70.0	73.0	72.0					3																	58555543		2203	4300	6503	SO:0001819	synonymous_variant	11170				regulation of cell growth	nucleus	protein binding	g.chr3:58555543C>G	AF089854	CCDS2892.1, CCDS63672.1, CCDS63673.1	3p14.2	2006-02-03			ENSG00000168309	ENSG00000168309			30827	protein-coding gene	gene with protein product		608295				10564580, 10702698	Standard	XM_005264835		Approved	DRR1, TU3A	uc003dkn.3	O95990	OTTHUMG00000159159	ENST00000394481.1:c.45G>C	3.37:g.58555543C>G						FAM107A_uc003dko.2_Silent_p.L46L|FAM107A_uc003dkn.2_Silent_p.L15L|FAM107A_uc010hnm.2_Silent_p.L43L|FAM107A_uc003dkp.1_Silent_p.L15L	p.L15L	NM_007177	NP_009108	O95990	F107A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)	3	604	-			15		L -> M (in ovarian cancer and renal cell carcinoma cell lines).			B3KNQ4|B7ZAY5|J3KR61|Q96NH4	Silent	SNP	ENST00000394481.1	37	c.45G>C	CCDS2892.1																																																																																				0.597	FAM107A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353585.1	NM_007177		12	95	0	0	0	0	12	95				
PVRL3	25945	broad.mit.edu	37	3	110852576	110852576	+	Silent	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr3:110852576C>T	ENST00000485303.1	+	6	1439	c.1164C>T	c.(1162-1164)ccC>ccT	p.P388P	PVRL3_ENST00000319792.3_3'UTR|PVRL3_ENST00000493615.1_Intron	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	388					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						AAAAATTGCCCTTCCCATTGT	0.443																																						uc003dxt.1		NA																	0				upper_aerodigestive_tract(2)	2						c.(1162-1164)CCC>CCT		poliovirus receptor-related 3 precursor							135.0	129.0	131.0					3																	110852576		2203	4300	6503	SO:0001819	synonymous_variant	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110852576C>T	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.1164C>T	3.37:g.110852576C>T						PVRL3_uc003dxu.1_Intron	p.P388P	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN			6	1164	+			388			Extracellular (Potential).		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Silent	SNP	ENST00000485303.1	37	c.1164C>T	CCDS2957.1																																																																																				0.443	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		5	111	0	0	0	0	5	111				
MFN1	55669	broad.mit.edu	37	3	179076745	179076745	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr3:179076745A>C	ENST00000471841.1	+	4	492	c.366A>C	c.(364-366)aaA>aaC	p.K122N	MFN1_ENST00000263969.5_Missense_Mutation_p.K122N|MFN1_ENST00000280653.7_Missense_Mutation_p.K122N	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	122	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ATGGAGATAAAGCCTATCTTA	0.373																																						uc003fjs.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(364-366)AAA>AAC		mitofusin 1							142.0	132.0	135.0					3																	179076745		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179076745A>C	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.366A>C	3.37:g.179076745A>C	ENSP00000420617:p.Lys122Asn					MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.K150N	p.K122N	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		4	492	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		122			Cytoplasmic (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.366A>C	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123331	0.56613	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15	5.86	5.86	0.93980	Dynamin, GTPase domain (1);	0.133613	0.64402	D	0.000002	D	0.93429	0.7904	N	0.17474	0.49	0.50813	D	0.999892	P;P	0.49307	0.922;0.909	P;P	0.52031	0.614;0.688	D	0.92220	0.5783	10	0.41790	T	0.15	-18.444	8.5386	0.33379	0.8533:0.0:0.1467:0.0	.	150;122	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	N	122	ENSP00000420617:K122N;ENSP00000280653:K122N;ENSP00000419134:K122N;ENSP00000263969:K122N	ENSP00000263969:K122N	K	+	3	2	MFN1	180559439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.369000	0.44231	2.367000	0.80283	0.528000	0.53228	AAA		0.373	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		10	79	0	0	0	0	10	79				
HGFAC	3083	broad.mit.edu	37	4	3445789	3445789	+	Missense_Mutation	SNP	G	G	A	rs200907783		TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr4:3445789G>A	ENST00000382774.3	+	5	614	c.499G>A	c.(499-501)Ggc>Agc	p.G167S	HGFAC_ENST00000511533.1_Missense_Mutation_p.G167S	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	167	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTGTGCCTCCGGCCCCTGCCT	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16088	0.0		0.0	False		,,,				2504	0.0					uc003ghc.2		NA																	0				central_nervous_system(2)	2						c.(499-501)GGC>AGC		HGF activator preproprotein		G	SER/GLY	0,4404		0,0,2202	31.0	34.0	33.0		499	-5.9	0.0	4		33	1,8589		0,1,4294	yes	missense	HGFAC	NM_001528.2	56	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	167/656	3445789	1,12993	2202	4295	6497	SO:0001583	missense	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3445789G>A	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.499G>A	4.37:g.3445789G>A	ENSP00000372224:p.Gly167Ser					HGFAC_uc010icw.2_Missense_Mutation_p.G167S	p.G167S	NM_001528	NP_001519	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	5	502	+			167			EGF-like 1.		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	c.499G>A	CCDS3369.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.565	-0.843729	0.02671	0.0	1.16E-4	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.92446	-3.04;-3.04	3.68	-5.94	0.02247	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.615141	0.15074	N	0.282026	T	0.69287	0.3094	N	0.00960	-1.095	0.09310	N	1	B;B	0.13594	0.008;0.0	B;B	0.12837	0.008;0.002	T	0.65755	-0.6091	10	0.02654	T	1	.	12.1071	0.53818	0.8239:0.0:0.1761:0.0	.	167;167	D6RAR4;Q04756	.;HGFA_HUMAN	S	167	ENSP00000372224:G167S;ENSP00000421801:G167S	ENSP00000372224:G167S	G	+	1	0	HGFAC	3415587	0.000000	0.05858	0.042000	0.18584	0.130000	0.20726	-0.467000	0.06664	-1.511000	0.01794	-1.305000	0.01319	GGC		0.662	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			9	59	0	0	0	0	9	59				
SORCS2	57537	broad.mit.edu	37	4	7726911	7726911	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr4:7726911T>C	ENST00000507866.2	+	20	2751	c.2642T>C	c.(2641-2643)gTt>gCt	p.V881A	SORCS2_ENST00000329016.9_Missense_Mutation_p.V709A	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	881					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CTGGAGGTGGTTCCTGTCATT	0.577																																						uc003gkb.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2641-2643)GTT>GCT		VPS10 domain receptor protein SORCS 2 precursor							87.0	91.0	90.0					4																	7726911		1969	4146	6115	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7726911T>C	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2642T>C	4.37:g.7726911T>C	ENSP00000422185:p.Val881Ala					SORCS2_uc011bwi.1_Missense_Mutation_p.V709A	p.V881A	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN			20	2642	+			881			Lumenal (Potential).		Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.2642T>C	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	T	7.940	0.742672	0.15642	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.13778	2.56;2.61	3.41	2.19	0.27852	.	0.089700	0.44483	U	0.000456	T	0.12092	0.0294	L	0.51422	1.61	0.48288	D	0.999621	B;B	0.16166	0.008;0.016	B;B	0.13407	0.006;0.009	T	0.09037	-1.0693	10	0.36615	T	0.2	.	8.1053	0.30881	0.0:0.1009:0.0:0.8991	.	709;881	B5MED8;Q96PQ0	.;SORC2_HUMAN	A	881;709	ENSP00000422185:V881A;ENSP00000329124:V709A	ENSP00000329124:V709A	V	+	2	0	SORCS2	7777811	1.000000	0.71417	0.966000	0.40874	0.508000	0.34012	4.105000	0.57797	0.246000	0.21394	0.372000	0.22366	GTT		0.577	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		18	61	0	0	0	0	18	61				
SCLT1	132320	broad.mit.edu	37	4	129864211	129864211	+	Silent	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr4:129864211C>T	ENST00000281142.5	-	17	2075	c.1572G>A	c.(1570-1572)cgG>cgA	p.R524R	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	524					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CAGTCTCTTTCCGTAACTGTT	0.363																																						uc003igp.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(1570-1572)CGG>CGA		sodium channel associated protein 1							126.0	128.0	127.0					4																	129864211		2203	4299	6502	SO:0001819	synonymous_variant	132320					centrosome		g.chr4:129864211C>T	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1572G>A	4.37:g.129864211C>T						SCLT1_uc003ign.2_Silent_p.R188R|SCLT1_uc003igo.2_Silent_p.R134R|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	p.R524R	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN			17	2078	-			524			Potential.		A4QN04|Q0VAH2|Q6P2M4	Silent	SNP	ENST00000281142.5	37	c.1572G>A	CCDS3740.1																																																																																				0.363	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		8	92	0	0	0	0	8	92				
SCLT1	132320	broad.mit.edu	37	4	129873944	129873944	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr4:129873944C>A	ENST00000281142.5	-	14	1701	c.1198G>T	c.(1198-1200)Gaa>Taa	p.E400*	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	400					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GCTGAAAGTTCTTCTGTTAAT	0.279																																						uc003igp.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(1198-1200)GAA>TAA		sodium channel associated protein 1							124.0	128.0	127.0					4																	129873944		2200	4295	6495	SO:0001587	stop_gained	132320					centrosome		g.chr4:129873944C>A	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1198G>T	4.37:g.129873944C>A	ENSP00000281142:p.Glu400*					SCLT1_uc003ign.2_Nonsense_Mutation_p.E64*|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	p.E400*	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN			14	1704	-			400			Potential.		A4QN04|Q0VAH2|Q6P2M4	Nonsense_Mutation	SNP	ENST00000281142.5	37	c.1198G>T	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	C	42	9.386073	0.99156	.	.	ENSG00000151466	ENST00000281142	.	.	.	4.49	3.63	0.41609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.4867	13.3531	0.60613	0.0:0.8398:0.1602:0.0	.	.	.	.	X	400	.	.	E	-	1	0	SCLT1	130093394	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	5.459000	0.66685	1.084000	0.41184	0.655000	0.94253	GAA		0.279	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		8	90	1	0	0.000157383	0.000166409	8	90				
ZNF827	152485	broad.mit.edu	37	4	146767142	146767142	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr4:146767142G>A	ENST00000508784.1	-	7	2472	c.2245C>T	c.(2245-2247)Cat>Tat	p.H749Y	ZNF827_ENST00000379448.4_Missense_Mutation_p.H749Y|ZNF827_ENST00000513320.1_Missense_Mutation_p.H399Y			Q17R98	ZN827_HUMAN	zinc finger protein 827	749					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)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCTTTTGTATGATTGTGCTCT	0.463																																						uc003ikn.2		NA																	0					0						c.(2245-2247)CAT>TAT		zinc finger protein 827							254.0	228.0	237.0					4																	146767142		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146767142G>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.2245C>T	4.37:g.146767142G>A	ENSP00000421863:p.His749Tyr					ZNF827_uc003ikm.2_Missense_Mutation_p.H749Y|ZNF827_uc010iox.2_Missense_Mutation_p.H399Y	p.H749Y	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			7	2293	-	all_hematologic(180;0.151)		749					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.2245C>T		.	.	.	.	.	.	.	.	.	.	G	19.23	3.787835	0.70337	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.08370	3.16;3.1;3.19	6.17	6.17	0.99709	.	0.084011	0.85682	D	0.000000	T	0.20536	0.0494	L	0.27053	0.805	0.48341	D	0.999633	D;D;D	0.61080	0.989;0.981;0.989	D;D;D	0.72982	0.979;0.954;0.979	T	0.00405	-1.1760	10	0.46703	T	0.11	-14.3033	20.8794	0.99867	0.0:0.0:1.0:0.0	.	399;749;749	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	Y	749;399;749;748;399	ENSP00000421863:H749Y;ENSP00000423130:H399Y;ENSP00000368761:H749Y	ENSP00000281318:H748Y	H	-	1	0	ZNF827	146986592	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.552000	0.82192	2.941000	0.99782	0.655000	0.94253	CAT		0.463	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		4	48	0	0	0	0	4	48				
FAT1	2195	broad.mit.edu	37	4	187541184	187541184	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr4:187541184A>C	ENST00000441802.2	-	10	6765	c.6556T>G	c.(6556-6558)Ttc>Gtc	p.F2186V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2186	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCACTGTAGAAAGGTTTTTCA	0.507										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(6556-6558)TTC>GTC		FAT tumor suppressor 1 precursor							80.0	79.0	79.0					4																	187541184		1977	4153	6130	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541184A>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6556T>G	4.37:g.187541184A>C	ENSP00000406229:p.Phe2186Val	HNSCC(5;0.00058)					p.F2186V	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	6744	-			2186			Extracellular (Potential).|Cadherin 20.			Missense_Mutation	SNP	ENST00000441802.2	37	c.6556T>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.723238	0.48728	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.03212	4.01	5.05	5.05	0.67936	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.07143	0.0181	N	0.12746	0.255	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59375	-0.7466	10	0.16420	T	0.52	.	14.9534	0.71091	1.0:0.0:0.0:0.0	.	2186	Q14517	FAT1_HUMAN	V	2186;2188	ENSP00000406229:F2186V	ENSP00000260147:F2188V	F	-	1	0	FAT1	187778178	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	9.139000	0.94554	2.116000	0.64780	0.533000	0.62120	TTC		0.507	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		6	75	0	0	0	0	6	75				
ADAMTS12	81792	broad.mit.edu	37	5	33624346	33624346	+	Silent	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr5:33624346C>T	ENST00000504830.1	-	14	2468	c.2133G>A	c.(2131-2133)aaG>aaA	p.K711K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	711	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CAGATCCTTCCTTCTGCTTAA	0.453										HNSCC(64;0.19)																												uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2131-2133)AAG>AAA		ADAM metallopeptidase with thrombospondin type 1							71.0	70.0	70.0					5																	33624346		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33624346C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2133G>A	5.37:g.33624346C>T		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Intron	p.K711K	NM_030955	NP_112217	P58397	ATS12_HUMAN			14	2296	-			711			Spacer 1.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.2133G>A	CCDS34140.1																																																																																				0.453	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		6	104	0	0	0	0	6	104				
MROH2B	133558	broad.mit.edu	37	5	41008749	41008749	+	Silent	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr5:41008749C>T	ENST00000399564.4	-	33	4017	c.3567G>A	c.(3565-3567)gtG>gtA	p.V1189V	MROH2B_ENST00000506092.2_Silent_p.V744V	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1189																	CCTGCTGCATCACATGCCGCC	0.567																																						uc003jmj.3		NA																	0				ovary(6)|central_nervous_system(2)	8						c.(3565-3567)GTG>GTA		HEAT repeat family member 7B2							88.0	90.0	89.0					5																	41008749		2078	4206	6284	SO:0001819	synonymous_variant	133558						binding	g.chr5:41008749C>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.3567G>A	5.37:g.41008749C>T						HEATR7B2_uc003jmi.3_Silent_p.V744V	p.V1189V	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			33	4057	-			1189			HEAT 13.		Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.3567G>A	CCDS47202.1																																																																																				0.567	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		5	39	0	0	0	0	5	39				
DDX4	54514	broad.mit.edu	37	5	55082475	55082475	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr5:55082475G>A	ENST00000505374.1	+	14	1086	c.994G>A	c.(994-996)Gct>Act	p.A332T	DDX4_ENST00000353507.5_Missense_Mutation_p.A298T|DDX4_ENST00000511853.1_Missense_Mutation_p.A183T|DDX4_ENST00000354991.5_Missense_Mutation_p.A298T|DDX4_ENST00000514278.2_Missense_Mutation_p.A312T	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	332	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GATGGCTTGCGCTCAAACAGG	0.398																																						uc003jqg.3		NA																	0				ovary(1)|skin(1)	2						c.(994-996)GCT>ACT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform							112.0	106.0	108.0					5																	55082475		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55082475G>A	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.994G>A	5.37:g.55082475G>A	ENSP00000424838:p.Ala332Thr					DDX4_uc010ivz.2_Missense_Mutation_p.A312T|DDX4_uc003jqh.3_Missense_Mutation_p.A298T|DDX4_uc003jqj.2_Missense_Mutation_p.A183T	p.A332T	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN			14	1068	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	332			ATP (By similarity).|Helicase ATP-binding.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.994G>A	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509794	0.85282	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	T;T;T;T;T;T	0.55930	1.79;1.79;0.49;1.79;1.79;1.79	5.07	5.07	0.68467	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.110120	0.64402	D	0.000008	D	0.83013	0.5162	H	0.97315	3.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.995;0.997;0.974	D	0.89173	0.3538	10	0.87932	D	0	-24.357	18.6423	0.91399	0.0:0.0:1.0:0.0	.	312;183;298;332	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	T	298;312;332;312;298;183	ENSP00000334167:A298T;ENSP00000425359:A312T;ENSP00000424838:A332T;ENSP00000427167:A312T;ENSP00000347087:A298T;ENSP00000423123:A183T	ENSP00000334167:A298T	A	+	1	0	DDX4	55118232	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.167000	0.94773	2.642000	0.89623	0.591000	0.81541	GCT		0.398	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		8	136	0	0	0	0	8	136				
CMYA5	202333	broad.mit.edu	37	5	79030604	79030604	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr5:79030604G>C	ENST00000446378.2	+	2	6047	c.6016G>C	c.(6016-6018)Gag>Cag	p.E2006Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2006					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAACATAGCAGAGGGGAAGGA	0.408																																						uc003kgc.2		NA																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(6016-6018)GAG>CAG		cardiomyopathy associated 5							61.0	59.0	59.0					5																	79030604		1854	4091	5945	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79030604G>C	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6016G>C	5.37:g.79030604G>C	ENSP00000394770:p.Glu2006Gln						p.E2006Q	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	6088	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2006					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.6016G>C	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955281	0.53293	.	.	ENSG00000164309	ENST00000446378	T	0.55760	0.5	5.83	1.36	0.22044	.	0.200780	0.24999	N	0.033931	T	0.33000	0.0848	L	0.29908	0.895	0.09310	N	1	B	0.33528	0.416	B	0.28638	0.092	T	0.14254	-1.0479	10	0.37606	T	0.19	.	7.6612	0.28404	0.0957:0.5023:0.402:0.0	.	2006	Q8N3K9	CMYA5_HUMAN	Q	2006	ENSP00000394770:E2006Q	ENSP00000394770:E2006Q	E	+	1	0	CMYA5	79066360	0.305000	0.24481	0.093000	0.20910	0.007000	0.05969	0.876000	0.28092	0.740000	0.32651	0.555000	0.69702	GAG		0.408	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		5	45	0	0	0	0	5	45				
PCDHGB7	56099	broad.mit.edu	37	5	140799485	140799485	+	Missense_Mutation	SNP	G	G	A	rs370039875		TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr5:140799485G>A	ENST00000398594.2	+	1	2059	c.2059G>A	c.(2059-2061)Gag>Aag	p.E687K	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	687					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCAGGCTGAGATGCAGTT	0.552																																						uc003lkn.1		NA																	0				ovary(2)	2						c.(2059-2061)GAG>AAG		protocadherin gamma subfamily B, 7 isoform 1							102.0	109.0	107.0					5																	140799485		2195	4295	6490	SO:0001583	missense	56099				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140799485G>A	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.2059G>A	5.37:g.140799485G>A	ENSP00000381594:p.Glu687Lys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.E687K|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	p.E687K	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2204	+			687			Extracellular (Potential).		Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.2059G>A	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	14.78	2.636281	0.47049	.	.	ENSG00000254122	ENST00000398594	T	0.46063	0.88	5.77	5.77	0.91146	.	0.240089	0.20685	U	0.087580	T	0.45657	0.1353	M	0.72576	2.205	0.23724	N	0.997018	B;B	0.29671	0.165;0.254	B;B	0.33750	0.081;0.169	T	0.40156	-0.9578	10	0.33141	T	0.24	.	13.2216	0.59892	0.0722:0.0:0.9278:0.0	.	687;687	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	K	687	ENSP00000381594:E687K	ENSP00000381594:E687K	E	+	1	0	PCDHGB7	140779669	0.008000	0.16893	0.962000	0.40283	0.836000	0.47400	1.752000	0.38349	2.724000	0.93272	0.561000	0.74099	GAG		0.552	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		8	72	0	0	0	0	8	72				
TENM2	57451	broad.mit.edu	37	5	167689098	167689098	+	Silent	SNP	C	C	G			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr5:167689098C>G	ENST00000518659.1	+	29	7647	c.7608C>G	c.(7606-7608)gcC>gcG	p.A2536A	TENM2_ENST00000519204.1_Silent_p.A2415A|TENM2_ENST00000520394.1_Silent_p.A2297A|TENM2_ENST00000403607.2_Silent_p.A2360A|TENM2_ENST00000545108.1_Silent_p.A2535A	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2536					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ATAACCAGGCCTTCATGGCTC	0.507																																						uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(7579-7581)GCC>GCG		odz, odd Oz/ten-m homolog 2							59.0	57.0	57.0					5																	167689098		1961	4137	6098	SO:0001819	synonymous_variant	57451							g.chr5:167689098C>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7608C>G	5.37:g.167689098C>G						ODZ2_uc003lzr.3_Silent_p.A2297A|ODZ2_uc003lzt.3_Silent_p.A1900A|ODZ2_uc010jje.2_Silent_p.A1791A	p.A2527A	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	29	7581	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.7581C>G																																																																																					0.507	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		6	42	0	0	0	0	6	42				
DOCK2	1794	broad.mit.edu	37	5	169477279	169477279	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr5:169477279G>A	ENST00000256935.8	+	41	4171	c.4091G>A	c.(4090-4092)cGc>cAc	p.R1364H	DOCK2_ENST00000540750.1_Missense_Mutation_p.R425H|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R856H	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1364	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCATCTACCGCGGGAAGGAA	0.502																																						uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(4090-4092)CGC>CAC		dedicator of cytokinesis 2							142.0	145.0	144.0					5																	169477279		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169477279G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4091G>A	5.37:g.169477279G>A	ENSP00000256935:p.Arg1364His					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R856H	p.R1364H	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		41	4171	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1364			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4091G>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	33	5.275557	0.95459	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.15017	3.15;2.75;2.46	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.68108	-0.5496	10	0.87932	D	0	.	19.2069	0.93734	0.0:0.0:1.0:0.0	.	856;1364	E7ERW7;Q92608	.;DOCK2_HUMAN	H	1364;856;425	ENSP00000256935:R1364H;ENSP00000429283:R856H;ENSP00000438827:R425H	ENSP00000256935:R1364H	R	+	2	0	DOCK2	169409857	1.000000	0.71417	0.995000	0.50966	0.939000	0.58152	9.869000	0.99810	2.547000	0.85894	0.655000	0.94253	CGC		0.502	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		19	175	0	0	0	0	19	175				
HK3	3101	broad.mit.edu	37	5	176314244	176314244	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr5:176314244G>C	ENST00000292432.5	-	12	1786	c.1695C>G	c.(1693-1695)atC>atG	p.I565M		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	565	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAATGGAGTAGATCTCGCTGG	0.622																																						uc003mfa.2		NA																	0				ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(1693-1695)ATC>ATG		hexokinase 3							107.0	100.0	102.0					5																	176314244		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176314244G>C		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1695C>G	5.37:g.176314244G>C	ENSP00000292432:p.Ile565Met					HK3_uc003mez.2_Missense_Mutation_p.I121M	p.I565M	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1787	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	565			Catalytic.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.1695C>G	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286729	0.23478	.	.	ENSG00000160883	ENST00000292432	D	0.98313	-4.86	4.86	1.98	0.26296	Hexokinase, N-terminal (1);	0.966923	0.08485	N	0.938915	D	0.98356	0.9454	M	0.80508	2.5	0.43226	D	0.99511	P	0.41947	0.766	P	0.56278	0.795	D	0.94078	0.7341	10	0.41790	T	0.15	-9.0148	5.6522	0.17622	0.0747:0.3896:0.4021:0.1335	.	565	P52790	HXK3_HUMAN	M	565	ENSP00000292432:I565M	ENSP00000292432:I565M	I	-	3	3	HK3	176246850	1.000000	0.71417	0.019000	0.16419	0.398000	0.30690	1.032000	0.30178	0.091000	0.17302	-0.304000	0.09214	ATC		0.622	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			11	55	0	0	0	0	11	55				
GPR116	221395	broad.mit.edu	37	6	46847692	46847692	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr6:46847692G>A	ENST00000283296.7	-	9	1187	c.899C>T	c.(898-900)tCc>tTc	p.S300F	GPR116_ENST00000265417.7_Missense_Mutation_p.S300F|GPR116_ENST00000456426.2_Intron|GPR116_ENST00000362015.4_Missense_Mutation_p.S300F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	300	Ig-like 1.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGACACATTGGAGGACAAAAC	0.438																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3		NA																	0				central_nervous_system(1)|skin(1)	2						c.(898-900)TCC>TTC		G-protein coupled receptor 116 precursor							181.0	154.0	163.0					6																	46847692		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46847692G>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.899C>T	6.37:g.46847692G>A	ENSP00000283296:p.Ser300Phe					GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.S300F|GPR116_uc010jzi.1_5'UTR|GPR116_uc003oyr.2_Missense_Mutation_p.S300F	p.S300F	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		9	1188	-			300			Ig-like 1.|Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.899C>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990224	0.35131	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000265417	T;T;T	0.66815	-0.23;-0.23;-0.23	6.08	4.29	0.51040	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.574061	0.16687	N	0.203686	T	0.64638	0.2616	M	0.63843	1.955	0.26665	N	0.971832	D;D	0.60160	0.987;0.987	P;P	0.62885	0.908;0.908	T	0.60203	-0.7309	10	0.72032	D	0.01	-6.1069	7.863	0.29520	0.0806:0.0:0.7596:0.1598	.	300;300	A8K0D8;Q8IZF2	.;GP116_HUMAN	F	300	ENSP00000283296:S300F;ENSP00000354563:S300F;ENSP00000265417:S300F	ENSP00000265417:S300F	S	-	2	0	GPR116	46955651	1.000000	0.71417	0.140000	0.22221	0.037000	0.13140	2.972000	0.49256	0.890000	0.36211	-0.293000	0.09583	TCC		0.438	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		9	80	0	0	0	0	9	80				
CCDC28A	25901	broad.mit.edu	37	6	139101031	139101031	+	Silent	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr6:139101031C>T	ENST00000332797.6	+	3	656	c.501C>T	c.(499-501)tcC>tcT	p.S167S		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	167										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TCCAGCACTCCTTCCTCACTG	0.453																																						uc003qie.2		NA																	0					0						c.(499-501)TCC>TCT		coiled-coil domain containing 28A							128.0	116.0	120.0					6																	139101031		2203	4300	6503	SO:0001819	synonymous_variant	25901							g.chr6:139101031C>T	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.501C>T	6.37:g.139101031C>T							p.S167S	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	3	656	+			167					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Silent	SNP	ENST00000332797.6	37	c.501C>T	CCDS5192.1																																																																																				0.453	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		10	82	0	0	0	0	10	82				
SEMA3E	9723	broad.mit.edu	37	7	83014672	83014672	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr7:83014672G>A	ENST00000307792.3	-	16	2280	c.1813C>T	c.(1813-1815)Cga>Tga	p.R605*	SEMA3E_ENST00000427262.1_Nonsense_Mutation_p.R545*	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	605	Ig-like C2-type.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGTAAAGATCGTGGGGTACAT	0.398																																						uc003uhy.1		NA																	0				ovary(3)	3						c.(1813-1815)CGA>TGA		semaphorin 3E precursor							204.0	183.0	190.0					7																	83014672		2203	4300	6503	SO:0001587	stop_gained	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83014672G>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1813C>T	7.37:g.83014672G>A	ENSP00000303212:p.Arg605*						p.R605*	NM_012431	NP_036563	O15041	SEM3E_HUMAN			16	2279	-		Medulloblastoma(109;0.109)	605			Ig-like C2-type.		B4E1P1|Q75M94|Q75M97	Nonsense_Mutation	SNP	ENST00000307792.3	37	c.1813C>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	39	7.826471	0.98510	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	15.1305	0.72520	0.0:0.0:0.858:0.142	.	.	.	.	X	605;545;605	.	ENSP00000303212:R605X	R	-	1	2	SEMA3E	82852608	0.996000	0.38824	0.966000	0.40874	0.986000	0.74619	2.964000	0.49192	2.597000	0.87782	0.650000	0.86243	CGA		0.398	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		20	132	0	0	0	0	20	132				
COL1A2	1278	broad.mit.edu	37	7	94051241	94051241	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr7:94051241C>T	ENST00000297268.6	+	39	2851	c.2380C>T	c.(2380-2382)Cgg>Tgg	p.R794W		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	794			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGCTGCTGGACGGACTGGTCC	0.458										HNSCC(75;0.22)																												uc003ung.1		NA																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(2380-2382)CGG>TGG		alpha 2 type I collagen precursor	Collagenase(DB00048)						134.0	114.0	121.0					7																	94051241		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94051241C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2380C>T	7.37:g.94051241C>T	ENSP00000297268:p.Arg794Trp	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	p.R794W	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		39	2851	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		794		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2380C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001448	0.74818	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93426	-3.22	5.46	2.49	0.30216	.	0.000000	0.85682	D	0.000000	D	0.96821	0.8962	M	0.88979	2.995	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.97220	0.9877	10	0.72032	D	0.01	.	14.5243	0.67875	0.4592:0.5408:0.0:0.0	.	794	P08123	CO1A2_HUMAN	W	794;795	ENSP00000297268:R794W	ENSP00000297268:R794W	R	+	1	2	COL1A2	93889177	0.767000	0.28508	0.999000	0.59377	0.994000	0.84299	1.592000	0.36676	0.788000	0.33755	0.655000	0.94253	CGG		0.458	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		6	57	0	0	0	0	6	57				
ZKSCAN5	23660	broad.mit.edu	37	7	99117510	99117510	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr7:99117510C>A	ENST00000394170.2	+	4	865	c.614C>A	c.(613-615)tCa>tAa	p.S205*	ZKSCAN5_ENST00000451158.1_Nonsense_Mutation_p.S205*|ZKSCAN5_ENST00000326775.5_Nonsense_Mutation_p.S205*	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTGACAGCTTCACTTCTCTCA	0.517																																						uc003uqv.2		NA																	0				ovary(1)	1						c.(613-615)TCA>TAA		zinc finger with KRAB and SCAN domains 5							95.0	86.0	89.0					7																	99117510		2203	4300	6503	SO:0001587	stop_gained	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99117510C>A	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.614C>A	7.37:g.99117510C>A	ENSP00000377725:p.Ser205*					ZKSCAN5_uc010lfx.2_Nonsense_Mutation_p.S205*|ZKSCAN5_uc003uqw.2_Nonsense_Mutation_p.S205*|ZKSCAN5_uc003uqx.2_Intron|ZKSCAN5_uc003uqy.2_5'UTR	p.S205*	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN			4	738	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		205					A4D280|D6W5S9	Nonsense_Mutation	SNP	ENST00000394170.2	37	c.614C>A	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	C	42	9.755170	0.99256	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	.	.	.	4.12	4.12	0.48240	.	0.187965	0.26359	N	0.024823	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	12.1775	0.54194	0.0:1.0:0.0:0.0	.	.	.	.	X	205	.	ENSP00000322872:S205X	S	+	2	0	ZKSCAN5	98955446	0.974000	0.33945	1.000000	0.80357	0.996000	0.88848	1.621000	0.36986	2.595000	0.87683	0.563000	0.77884	TCA		0.517	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		11	69	1	0	2.27e-07	2.43e-07	11	69				
IQUB	154865	broad.mit.edu	37	7	123142651	123142651	+	Splice_Site	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr7:123142651C>T	ENST00000466202.1	-	6	1599	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	IQUB_ENST00000434450.1_Splice_Site_p.A341A|IQUB_ENST00000488987.1_5'UTR|IQUB_ENST00000324698.6_Splice_Site_p.A341A	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	341	IQ.				cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GTTATCTCACCGCCTTTAGTC	0.358																																						uc003vkn.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(1021-1023)GCG>GCA		IQ motif and ubiquitin domain containing							93.0	89.0	91.0					7																	123142651		2203	4300	6503	SO:0001630	splice_region_variant	154865							g.chr7:123142651C>T	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1023+1G>A	7.37:g.123142651C>T						IQUB_uc003vko.2_Silent_p.A341A|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Silent_p.A341A|IQUB_uc003vkq.2_3'UTR	p.A341A	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			6	1600	-			341			IQ.		A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Silent	SNP	ENST00000466202.1	37	c.1023G>A	CCDS5787.1																																																																																				0.358	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827	Silent	6	71	0	0	0	0	6	71				
XPO7	23039	broad.mit.edu	37	8	21843104	21843104	+	Silent	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr8:21843104G>A	ENST00000252512.9	+	13	1579	c.1479G>A	c.(1477-1479)ctG>ctA	p.L493L	XPO7_ENST00000433566.4_Silent_p.L494L|XPO7_ENST00000434536.1_Silent_p.L502L	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	493					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CAGGAAGGCTGACATGGCTGG	0.498																																						uc003xaa.3		NA																	0				ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5						c.(1477-1479)CTG>CTA		exportin 7 isoform b							153.0	158.0	156.0					8																	21843104		2047	4188	6235	SO:0001819	synonymous_variant	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21843104G>A	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1479G>A	8.37:g.21843104G>A						XPO7_uc010lti.2_Silent_p.L502L|XPO7_uc010ltk.2_Silent_p.L494L	p.L493L	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	13	1581	+			493					O94846|Q6PJK9|Q8NEK7	Silent	SNP	ENST00000252512.9	37	c.1479G>A	CCDS47818.1																																																																																				0.498	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		40	139	0	0	0	0	40	139				
UBR5	51366	broad.mit.edu	37	8	103305835	103305835	+	Silent	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr8:103305835G>A	ENST00000520539.1	-	34	5193	c.4587C>T	c.(4585-4587)agC>agT	p.S1529S	UBR5_ENST00000220959.4_Silent_p.S1529S|UBR5_ENST00000519528.1_5'UTR|UBR5_ENST00000521922.1_Silent_p.S1523S	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1529	Poly-Ser.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CAATTTACCTGCTAGACTGAT	0.433																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(4585-4587)AGC>AGT		ubiquitin protein ligase E3 component n-recognin							126.0	117.0	120.0					8																	103305835		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103305835G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.4587C>T	8.37:g.103305835G>A						UBR5_uc003yks.1_Silent_p.S1529S	p.S1529S	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		34	4620	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1529			Poly-Ser.		B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.4587C>T	CCDS34933.1																																																																																				0.433	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		11	99	0	0	0	0	11	99				
TRAPPC9	83696	broad.mit.edu	37	8	140744267	140744267	+	Silent	SNP	G	G	A	rs373077080		TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr8:140744267G>A	ENST00000438773.2	-	22	3367	c.3234C>T	c.(3232-3234)caC>caT	p.H1078H	TRAPPC9_ENST00000389328.4_Silent_p.H1176H|TRAPPC9_ENST00000389327.3_Silent_p.H1069H|TRAPPC9_ENST00000522504.1_5'UTR	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	1078					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGACGGTGTCGTGCAGGTCGT	0.657													g|||	1	0.000199681	0.0008	0.0	5008	,	,		19031	0.0		0.0	False		,,,				2504	0.0					uc003yvj.2		NA																	0				skin(2)	2						c.(3232-3234)CAC>CAT		trafficking protein particle complex 9 isoform		A	,	1,4403		0,1,2201	129.0	109.0	116.0		3234,3528	-8.5	0.0	8		116	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TRAPPC9	NM_001160372.1,NM_031466.5	,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	1078/1149,1176/1247	140744267	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:140744267G>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.3234C>T	8.37:g.140744267G>A						TRAPPC9_uc003yvh.2_Silent_p.H1176H	p.H1078H	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN			22	3368	-			1078					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.3234C>T	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	g	0.017	-1.490346	0.01018	2.27E-4	0.0	ENSG00000167632	ENST00000520857	.	.	.	4.27	-8.53	0.00916	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.999956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5468	0.45064	0.4774:0.3952:0.1274:0.0	.	.	.	.	X	922	.	.	R	-	1	2	TRAPPC9	140813449	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.326000	0.02685	-2.059000	0.00894	-3.001000	0.00077	CGA		0.657	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		5	11	0	0	0	0	5	11				
EPPK1	83481	broad.mit.edu	37	8	144940690	144940690	+	Silent	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr8:144940690G>A	ENST00000525985.1	-	2	6803	c.6732C>T	c.(6730-6732)agC>agT	p.S2244S				P58107	EPIPL_HUMAN	epiplakin 1	2244						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGGTAGATGCTCATCTTCT	0.711																																						uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(14740-14742)AGC>AGT		epiplakin 1							63.0	61.0	61.0					8																	144940690		2185	4252	6437	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940690G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6732C>T	8.37:g.144940690G>A							p.S4914S	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	14755	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		4914			Plectin 61.		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.14742C>T																																																																																					0.711	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		7	102	0	0	0	0	7	102				
FOCAD	54914	broad.mit.edu	37	9	20789459	20789459	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:20789459C>T	ENST00000380249.1	+	13	1671	c.1307C>T	c.(1306-1308)gCt>gTt	p.A436V	SNORA30_ENST00000365319.1_RNA|FOCAD_ENST00000338382.6_Missense_Mutation_p.A436V	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	436						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GACTGGTTGGCTTCAGTAGAG	0.463																																						uc003zog.1		NA																	0				ovary(8)|breast(1)|kidney(1)	10						c.(1306-1308)GCT>GTT		hypothetical protein LOC54914							187.0	162.0	170.0					9																	20789459		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20789459C>T	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.1307C>T	9.37:g.20789459C>T	ENSP00000369599:p.Ala436Val						p.A436V	NM_017794	NP_060264	Q5VW36	K1797_HUMAN		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	13	1670	+			436					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.1307C>T	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607707	0.28623	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.07114	3.22;3.22	5.71	4.79	0.61399	.	0.597985	0.17394	N	0.175813	T	0.06142	0.0159	N	0.19112	0.55	0.34172	D	0.669905	B	0.24258	0.1	B	0.24541	0.054	T	0.26916	-1.0089	10	0.15066	T	0.55	-27.8832	12.202	0.54331	0.0:0.9181:0.0:0.0819	.	436	Q5VW36	K1797_HUMAN	V	436	ENSP00000369599:A436V;ENSP00000344307:A436V	ENSP00000344307:A436V	A	+	2	0	KIAA1797	20779459	1.000000	0.71417	0.989000	0.46669	0.669000	0.39330	2.545000	0.45769	1.351000	0.45789	0.655000	0.94253	GCT		0.463	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		11	84	0	0	0	0	11	84				
IGFBPL1	347252	broad.mit.edu	37	9	38414183	38414183	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:38414183G>A	ENST00000377694.1	-	2	500	c.478C>T	c.(478-480)Cct>Tct	p.P160S		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	160	Ig-like C2-type.				regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		CTTCGGGGAGGAACGACGACC	0.592																																						uc004aba.2		NA																	0					0						c.(478-480)CCT>TCT		insulin-like growth factor binding protein-like							109.0	94.0	99.0					9																	38414183		2203	4300	6503	SO:0001583	missense	347252				regulation of cell growth	extracellular region	insulin-like growth factor binding	g.chr9:38414183G>A		CCDS35017.1	9p12	2013-01-11			ENSG00000137142	ENSG00000137142		"""Immunoglobulin superfamily / I-set domain containing"""	20081	protein-coding gene	gene with protein product		610413					Standard	NM_001007563		Approved	bA113O24.1	uc004aaz.3	Q8WX77	OTTHUMG00000019937	ENST00000377694.1:c.478C>T	9.37:g.38414183G>A	ENSP00000366923:p.Pro160Ser						p.P160S	NM_001007563	NP_001007564	Q8WX77	IBPL1_HUMAN		GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)	2	501	-			160			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000377694.1	37	c.478C>T	CCDS35017.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038821	0.35989	.	.	ENSG00000137142	ENST00000377694	D	0.83591	-1.74	5.02	5.02	0.67125	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.158216	0.28859	U	0.013913	D	0.86243	0.5886	L	0.46741	1.465	0.34153	D	0.667723	D	0.89917	1.0	D	0.91635	0.999	D	0.84593	0.0668	10	0.11485	T	0.65	-2.347	13.8611	0.63561	0.0:0.0:1.0:0.0	.	160	Q8WX77	IBPL1_HUMAN	S	160	ENSP00000366923:P160S	ENSP00000366923:P160S	P	-	1	0	IGFBPL1	38404183	1.000000	0.71417	0.840000	0.33206	0.232000	0.25224	6.076000	0.71267	2.339000	0.79563	0.563000	0.77884	CCT		0.592	IGFBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052491.1	XM_294567		6	83	0	0	0	0	6	83				
PRUNE2	158471	broad.mit.edu	37	9	79465512	79465512	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:79465512C>T	ENST00000376718.3	-	3	334	c.211G>A	c.(211-213)Gag>Aag	p.E71K	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Missense_Mutation_p.E71K	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	71					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AACCTCGTCTCGGTGAAGTAG	0.393																																						uc010mpk.2		NA																	0					0						c.(211-213)GAG>AAG		prune homolog 2							148.0	155.0	153.0					9																	79465512		2203	4300	6503	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79465512C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.211G>A	9.37:g.79465512C>T	ENSP00000365908:p.Glu71Lys					PRUNE2_uc004akn.2_Missense_Mutation_p.E71K	p.E71K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			3	335	-			71					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.211G>A	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163402	0.94727	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T	0.63580	-0.05	5.78	5.78	0.91487	.	0.060662	0.64402	D	0.000005	T	0.81702	0.4878	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.986	T	0.83099	-0.0129	10	0.87932	D	0	.	20.0175	0.97485	0.0:1.0:0.0:0.0	.	71;71	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	K	71;70;71	ENSP00000365908:E71K	ENSP00000365903:E71K	E	-	1	0	PRUNE2	78655332	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	5.574000	0.67424	2.730000	0.93505	0.650000	0.86243	GAG		0.393	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		16	151	0	0	0	0	16	151				
DAPK1	1612	broad.mit.edu	37	9	90321943	90321943	+	Silent	SNP	G	G	A	rs200815823		TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:90321943G>A	ENST00000408954.3	+	26	4292	c.3957G>A	c.(3955-3957)ccG>ccA	p.P1319P	DAPK1_ENST00000491893.1_Silent_p.P1253P|DAPK1_ENST00000472284.1_Silent_p.P1319P|DAPK1_ENST00000358077.5_Silent_p.P1319P|DAPK1_ENST00000469640.2_Silent_p.P1344P	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1319	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGCTGGACCCGCCCGACCCCC	0.602									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.2		NA																	0				ovary(1)|breast(1)	2						c.(3955-3957)CCG>CCA		death-associated protein kinase 1		G		5,4105		0,5,2050	55.0	64.0	61.0		3957	-11.5	0.1	9		61	0,8346		0,0,4173	yes	coding-synonymous	DAPK1	NM_004938.2		0,5,6223	AA,AG,GG		0.0,0.1217,0.0401		1319/1431	90321943	5,12451	2055	4173	6228	SO:0001819	synonymous_variant	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90321943G>A	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3957G>A	9.37:g.90321943G>A						DAPK1_uc004apd.2_Silent_p.P1319P|DAPK1_uc011ltg.1_Silent_p.P1253P|DAPK1_uc011lth.1_Silent_p.P1056P|DAPK1_uc004apg.2_Silent_p.P296P	p.P1319P	NM_004938	NP_004929	P53355	DAPK1_HUMAN			26	4095	+			1319			Death.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	c.3957G>A	CCDS43842.1																																																																																				0.602	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		9	106	0	0	0	0	9	106				
CENPP	401541	broad.mit.edu	37	9	95094556	95094556	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:95094556G>C	ENST00000375587.3	+	2	727	c.212G>C	c.(211-213)aGt>aCt	p.S71T		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	71					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						TCATTTCTAAGTACGCTTACT	0.348																																						uc004arz.2		NA																	0				ovary(2)	2						c.(211-213)AGT>ACT		centromere protein P							64.0	63.0	63.0					9																	95094556		2203	4300	6503	SO:0001583	missense	401541				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr9:95094556G>C	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.212G>C	9.37:g.95094556G>C	ENSP00000364737:p.Ser71Thr					CENPP_uc010mqx.2_Intron|CENPP_uc004ary.1_Missense_Mutation_p.S71T	p.S71T	NM_001012267	NP_001012267	Q6IPU0	CENPP_HUMAN			2	752	+			71			Potential.		B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	c.212G>C	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	G	9.006	0.981408	0.18812	.	.	ENSG00000188312	ENST00000375587	.	.	.	5.16	3.29	0.37713	.	0.375123	0.26481	N	0.024126	T	0.37461	0.1004	L	0.50333	1.59	0.80722	D	1	P	0.37781	0.608	B	0.34722	0.188	T	0.15009	-1.0452	9	0.08599	T	0.76	-9.0816	7.2988	0.26408	0.1949:0.0:0.8051:0.0	.	71	Q6IPU0	CENPP_HUMAN	T	71	.	ENSP00000364737:S71T	S	+	2	0	CENPP	94134377	0.731000	0.28111	0.894000	0.35097	0.984000	0.73092	0.700000	0.25601	1.461000	0.47929	0.551000	0.68910	AGT		0.348	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267		4	31	0	0	0	0	4	31				
TMOD1	7111	broad.mit.edu	37	9	100331211	100331211	+	Silent	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:100331211G>A	ENST00000259365.4	+	8	975	c.762G>A	c.(760-762)ttG>ttA	p.L254L	TMOD1_ENST00000395211.2_Silent_p.L254L|TMOD1_ENST00000375175.1_Silent_p.L127L	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	254					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		ACAAGGTGTTGAAGACACTGA	0.507																																						uc004axk.1		NA																	0					0						c.(760-762)TTG>TTA		tropomodulin 1							133.0	122.0	126.0					9																	100331211		2203	4300	6503	SO:0001819	synonymous_variant	7111				muscle filament sliding	cytosol	actin binding	g.chr9:100331211G>A		CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.762G>A	9.37:g.100331211G>A						TMOD1_uc004axl.1_Silent_p.L254L	p.L254L	NM_003275	NP_003266	P28289	TMOD1_HUMAN		STAD - Stomach adenocarcinoma(157;0.105)	8	975	+		Acute lymphoblastic leukemia(62;0.154)	254					B2RB77|Q5T7W3|Q9BUF1	Silent	SNP	ENST00000259365.4	37	c.762G>A	CCDS6726.1																																																																																				0.507	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275		13	107	0	0	0	0	13	107				
TMOD1	7111	broad.mit.edu	37	9	100331220	100331220	+	Silent	SNP	G	G	A			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:100331220G>A	ENST00000259365.4	+	8	984	c.771G>A	c.(769-771)ctG>ctA	p.L257L	TMOD1_ENST00000395211.2_Silent_p.L257L|TMOD1_ENST00000375175.1_Silent_p.L130L	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	257					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TGAAGACACTGAATGTGGAAT	0.498																																						uc004axk.1		NA																	0					0						c.(769-771)CTG>CTA		tropomodulin 1							137.0	126.0	130.0					9																	100331220		2203	4300	6503	SO:0001819	synonymous_variant	7111				muscle filament sliding	cytosol	actin binding	g.chr9:100331220G>A		CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.771G>A	9.37:g.100331220G>A						TMOD1_uc004axl.1_Silent_p.L257L	p.L257L	NM_003275	NP_003266	P28289	TMOD1_HUMAN		STAD - Stomach adenocarcinoma(157;0.105)	8	984	+		Acute lymphoblastic leukemia(62;0.154)	257					B2RB77|Q5T7W3|Q9BUF1	Silent	SNP	ENST00000259365.4	37	c.771G>A	CCDS6726.1																																																																																				0.498	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275		15	102	0	0	0	0	15	102				
GALNT12	79695	broad.mit.edu	37	9	101585618	101585618	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:101585618C>T	ENST00000375011.3	+	2	452	c.452C>T	c.(451-453)aCt>aTt	p.T151I		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	151	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GCCTGGTCAACTCTCCTTCGG	0.428																																						uc004ayz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(451-453)ACT>ATT		N-acetylgalactosaminyltransferase 12							105.0	104.0	104.0					9																	101585618		2203	4300	6503	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101585618C>T	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.452C>T	9.37:g.101585618C>T	ENSP00000364150:p.Thr151Ile						p.T151I	NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN			2	452	+		Acute lymphoblastic leukemia(62;0.0559)	151			Catalytic subdomain A.|Lumenal (Potential).		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.452C>T	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.786766	0.90367	.	.	ENSG00000119514	ENST00000375011	T	0.59906	0.23	5.37	5.37	0.77165	Glycosyl transferase, family 2 (1);	0.046336	0.85682	D	0.000000	T	0.80783	0.4689	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84920	0.0853	10	0.87932	D	0	.	16.6177	0.84920	0.0:1.0:0.0:0.0	.	151	Q8IXK2	GLT12_HUMAN	I	151	ENSP00000364150:T151I	ENSP00000364150:T151I	T	+	2	0	GALNT12	100625439	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.738000	0.84966	2.477000	0.83638	0.655000	0.94253	ACT		0.428	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		5	84	0	0	0	0	5	84				
FNBP1	23048	broad.mit.edu	37	9	132740854	132740854	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:132740854C>T	ENST00000446176.2	-	4	421	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	FNBP1_ENST00000355681.3_Missense_Mutation_p.E79K|FNBP1_ENST00000420781.1_Missense_Mutation_p.E79K	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	79	F-BAR domain.|Interaction with microtubules. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.E79K(1)					Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TCATTCATTTCGTTCAGGTTG	0.433			T	MLL	AML																																	uc004byw.1		NA		Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		1	Substitution - Missense(1)		large_intestine(1)		0						c.(235-237)GAA>AAA		formin binding protein 1							128.0	121.0	123.0					9																	132740854		1991	4179	6170	SO:0001583	missense	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132740854C>T	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.235G>A	9.37:g.132740854C>T	ENSP00000413625:p.Glu79Lys					FNBP1_uc011mbv.1_Missense_Mutation_p.E79K|FNBP1_uc011mbw.1_Missense_Mutation_p.E79K|FNBP1_uc004bza.2_Missense_Mutation_p.E79K|FNBP1_uc004byz.1_Missense_Mutation_p.E79K|FNBP1_uc004byx.1_5'UTR|FNBP1_uc004byy.1_5'UTR	p.E79K	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	4	454	-		Ovarian(14;0.000536)	79			Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	ENST00000446176.2	37	c.235G>A	CCDS48040.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918968	0.92249	.	.	ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681	T;T;T	0.21361	2.01;2.01;2.01	5.87	5.87	0.94306	Fps/Fes/Fer/CIP4 homology (2);	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	M	0.90082	3.085	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.74348	0.983;0.962;0.983;0.982;0.983	T	0.63902	-0.6532	10	0.87932	D	0	-38.2741	19.267	0.93990	0.0:1.0:0.0:0.0	.	79;79;79;79;79	B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q96RU3	.;.;.;.;FNBP1_HUMAN	K	79	ENSP00000413625:E79K;ENSP00000407548:E79K;ENSP00000347907:E79K	ENSP00000347907:E79K	E	-	1	0	FNBP1	131780675	1.000000	0.71417	0.142000	0.22268	0.509000	0.34042	7.020000	0.76419	2.788000	0.95919	0.650000	0.86243	GAA		0.433	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			7	50	0	0	0	0	7	50				
CACNA1B	774	broad.mit.edu	37	9	141016410	141016410	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:141016410C>T	ENST00000371372.1	+	47	7124	c.6979C>T	c.(6979-6981)Cgg>Tgg	p.R2327W	CACNA1B_ENST00000371357.1_Missense_Mutation_p.R2326W|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R1521W|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R2325W|CACNA1B_ENST00000277551.2_3'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R2328W	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2327					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGCCGAGCACGGCACAGCTA	0.637																																						uc004cog.2		NA																	0				breast(3)|large_intestine(2)|ovary(1)	6						c.(6979-6981)CGG>TGG		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						25.0	28.0	27.0					9																	141016410		2111	4214	6325	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141016410C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6979C>T	9.37:g.141016410C>T	ENSP00000360423:p.Arg2327Trp					CACNA1B_uc004coi.2_Missense_Mutation_p.R1539W	p.R2327W	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	46	7124	+	all_cancers(76;0.166)		2327			Cytoplasmic (Potential).		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.6979C>T	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958588	0.92726	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.97161	-4.05;-4.27;-4.05;-4.03;-4.03	5.22	5.22	0.72569	.	0.575551	0.16297	N	0.220603	D	0.98040	0.9354	M	0.61703	1.905	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.66979	0.948;0.948	D	0.98789	1.0735	10	0.66056	D	0.02	.	18.7817	0.91934	0.0:1.0:0.0:0.0	.	2326;2325	B1AQK7;B1AQK6	.;.	W	2327;1521;2325;2326;2328	ENSP00000360423:R2327W;ENSP00000277549:R1521W;ENSP00000360414:R2325W;ENSP00000360408:R2326W;ENSP00000360406:R2328W	ENSP00000277549:R1521W	R	+	1	2	CACNA1B	140136231	0.973000	0.33851	0.975000	0.42487	0.768000	0.43524	5.032000	0.64140	2.443000	0.82685	0.561000	0.74099	CGG		0.637	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		9	39	0	0	0	0	9	39				
PTPRN2	5799	broad.mit.edu	37	7	158380276	158380277	+	Frame_Shift_Ins	INS	-	-	G	rs370283162	byFrequency	TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr7:158380276_158380277insG	ENST00000389418.4	-	1	94_95	c.85_86insC	c.(85-87)cgcfs	p.R29fs	PTPRN2_ENST00000389416.4_Frame_Shift_Ins_p.R29fs|PTPRN2_ENST00000409483.1_Frame_Shift_Ins_p.R29fs|PTPRN2_ENST00000389413.3_Frame_Shift_Ins_p.R29fs	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	29					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTGCCGGCCGCGGGGGACGGAC	0.757																																						uc003wno.2		NA																	0				ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(85-87)CGCfs		protein tyrosine phosphatase, receptor type, N																																				SO:0001589	frameshift_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:158380276_158380277insG	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.86dupC	7.37:g.158380281_158380281dupG	ENSP00000374069:p.Arg29fs					PTPRN2_uc003wnp.2_Frame_Shift_Ins_p.R29fs|PTPRN2_uc003wnq.2_Frame_Shift_Ins_p.R29fs|PTPRN2_uc003wnr.2_Frame_Shift_Ins_p.R29fs	p.R29fs	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	1	206_207	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	29			Extracellular (Potential).		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Frame_Shift_Ins	INS	ENST00000389418.4	37	c.85_86insC	CCDS5947.1																																																																																				0.757	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			2	4	NA	NA	NA	NA	2	4	---	---	---	---
SURF2	6835	broad.mit.edu	37	9	136226880	136226882	+	In_Frame_Del	DEL	GGA	GGA	-	rs149969130		TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:136226880_136226882delGGA	ENST00000371964.4	+	4	433_435	c.392_394delGGA	c.(391-396)cggagg>cgg	p.131_132RR>R	SURF2_ENST00000495524.1_3'UTR	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	131						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		CTGGTGCACCGGAGGAGGAGGAG	0.635																																						uc004cdi.2		NA																	0					0						c.(391-396)CGGAGG>CGG		surfeit 2																																				SO:0001651	inframe_deletion	6835						protein binding	g.chr9:136226880_136226882delGGA		CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"""surfeit locus protein 2"""	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.392_394delGGA	9.37:g.136226889_136226891delGGA	ENSP00000361032:p.Arg135del						p.131_132RR>R	NM_017503	NP_059973	Q15527	SURF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)	4	440_442	+			131_132					Q6IBP9|Q96CD1	In_Frame_Del	DEL	ENST00000371964.4	37	c.392_394delGGA	CCDS6967.1																																																																																				0.635	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054883.1	NM_017503		7	35	NA	NA	NA	NA	7	35	---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggggag>ggg	p.E119del	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.66																																					Melanoma(171;120 2705 19495 39241)	uc004dhf.2		NA																	0				ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						c.(334-339)GGGGAG>GGG		RNA binding motif protein 10 isoform 1			,,,,	630,3068		53,380,144,1150,388					,,,,	4.2	1.0			18	1271,5155		67,669,468,1609,1268	no	intron,coding,coding,coding,intron	RBM10	NM_152856.2,NM_005676.4,NM_001204468.1,NM_001204467.1,NM_001204466.1	,,,,	120,1049,612,2759,1656	A1A1,A1R,A1,RR,R		19.779,17.0362,18.7772	,,,,	,,,,		1901,8223				SO:0001651	inframe_deletion	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030561_47030563delGGA	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.336_338delGGA	X.37:g.47030570_47030572delGGA	ENSP00000366829:p.Glu119del					RBM10_uc004dhe.1_In_Frame_Del_p.E109del|RBM10_uc004dhg.2_Intron|RBM10_uc004dhh.2_In_Frame_Del_p.E119del|RBM10_uc010nhq.2_Intron|RBM10_uc004dhi.2_In_Frame_Del_p.E184del	p.E119del	NM_005676	NP_005667	P98175	RBM10_HUMAN			4	715_717	+			119			Poly-Glu.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	c.336_338delGGA	CCDS14274.1																																																																																				0.660	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		4	9	NA	NA	NA	NA	4	9	---	---	---	---
